%0 Journal Article
%~ PubMed
%A Dale, Russell C
%A Pillai, Sekhar
%A Brilot, Fabienne
%T Cerebrospinal fluid CD19(+) B-cell expansion in N-methyl-d-aspartate receptor encephalitis.
%B Developmental Medicine and Child Neurology
%D 2013
%C United Kingdom, United States
%I Wiley-Blackwell Publishing Ltd.
%V 55
%N 2
%P 191-193
%@ 0012-1622
%X 
%Z FOR Codes: 111403 110903 110703


%0 Journal Article
%~ PubMed
%A Sinclair, Adriane J
%A Wienholt, Louise
%A Tantsis, Esther
%A Brilot, Fabienne
%A Dale, Russell C
%T Clinical association of intrathecal and mirrored oligoclonal bands in paediatric neurology.
%B Developmental Medicine and Child Neurology
%D 2013
%C United Kingdom
%I Wiley-Blackwell Publishing Ltd.
%V 55
%N 1
%P 71-75
%@ 0012-1622
%X 
%Z FOR Codes: 111403 110703 110903


%0 Journal Article
%~ PubMed
%A Johnson, Alexandra M
%A Dale, Russell C
%A Wienholt, Louise
%A Hadjivassiliou, Marios
%A Aeschlimann, Daniel
%A Lawson, John A
%T Coeliac disease, epilepsy, and cerebral calcifications: association with TG6 autoantibodies.
%B Developmental Medicine and Child Neurology
%D 2013
%C United Kingdom
%I Wiley-Blackwell Publishing Ltd.
%V 55
%N 1
%P 90-93
%@ 0012-1622
%X A 4-year-old boy presented with occipital seizures but normal initial neuroimaging and proved refractory to antiepileptic medications. On repeat neuroimaging after 1???year, he had developed bi-occipital calcification and was then found to have positive coeliac serology. He was diagnosed with coeliac disease, epilepsy, and cerebral calcifications (CEC) and became seizure free after starting the gluten-free diet. Positive antibody binding to neurons and glia was demonstrated on indirect immunofluorescence. High levels of immunoglobulin-A directed against transglutaminase isoenzyme 6 (TG6) were found in the patient''s serum. The positive response to the diet, TG6 antibodies, and neuronal antibody binding suggest that CEC might be autoimmune in nature, as in other extra-intestinal manifestations of gluten-related diseases, such as gluten ataxia.
%Z FOR Codes: 111403


%0 Journal Article
%~ PubMed
%A Dale, Russell C
%A Merheb, Vera
%A Pillai, Sekhar
%A Wang, Dongwei
%A Cantrill, Laurence
%A Murphy, Tanya K
%A Ben-Pazi, Hilla
%A Varadkar, Sophia
%A Aumann, Tim D
%A Horne, Malcolm K
%A Church, Andrew J
%A Fath, Thomas
%A Brilot, Fabienne
%T Antibodies to surface dopamine-2 receptor in autoimmune movement and psychiatric disorders.
%B Brain
%D 2012
%C United Kingdom
%I Oxford University Press
%V 135
%N Pt 11
%P 3453-3468
%@ 1460-2156
%X 
%Z FOR Codes: 110903 111403


%0 Journal Article
%~ PubMed
%A Fung, Eva Lai-Wah
%A Tsung, Lilian Li-Yan
%A Dale, Russell C
%T Aquaporin-4 autoantibody: a neurogenic cause of anorexia and weight loss.
%B Developmental Medicine and Child Neurology
%D 2012
%C United Kingdom, United States
%I Mac Keith Press
%V 54
%N 1
%P 45-47
%@ 0012-1622
%X Neuromyelitis optica (NMO) is a severe inflammatory demyelinating disease often associated with a highly specific autoantibody, aquaporin-4 antibody. Although the classic syndrome involves the optic nerves and spinal cord, aquaporin-4 antibody has been important in defining the true spectrum of NMO, which now includes brain lesions in areas of high aquaporin-4 expression. Brainstem involvement, specifically area postrema involvement in the medulla, has been associated with intractable vomiting in some patients with NMO. We describe a 14-year-old female with positive aquaporin-4 antibody whose clinical course was dominated by severe anorexia with associated weight loss (from 68-41kg; body mass index 25.2-15.6). Magnetic resonance imaging showed lesions in the medulla, pons, and thalami. Although she had asymptomatic radiological longitudinally extensive transverse myelitis, she never had symptoms or signs referable to the spinal cord or the optic nerves. We propose that anorexia and weight loss should be considered part of the NMO spectrum, probably related to area postrema involvement.
%Z FOR Codes: 111403


%0 Journal Article
%A Dale, Russell
%A Banwell, Brenda
%A Bar-Or, Amit
%A Brilot-Turville, Fabienne
%T Autoantibodies against aquaporin-4 and myelin oligodendrocyte glycoprotein in paediatric CNS demyelination: Recent developments and future directions
%B Multiple Sclerosis and Related Disorders
%D 2012
%C Netherlands
%I Elsevier B. V.
%V 1
%N 3
%P 116–122
%@ 2211-0356
%X 
%Z FOR Codes: 110707


%0 Journal Article
%~ PubMed
%A Seshia, Shashi S
%A Dale, Russell C
%A Kirkham, Fenella J
%T Autoantibody associated disorders of the CNS in children: the list keeps growing.
%B Canadian Journal of Neurological Sciences
%D 2012
%C Canada
%I Canadian Journal of Neurological Sciences, Inc.
%V 39
%N 2
%P 129-131
%@ 0317-1671
%X 
%Z FOR Codes: 110904 111403


%0 Journal Article
%~ PubMed
%A Dale, Russell C
%A Brilot, Fabienne
%T Autoimmune Basal Ganglia disorders.
%B Journal of Child Neurology
%D 2012
%C United States
%I Sage Publications, Inc.
%V 27
%N 11
%P 1470-1481
%@ 1708-8283
%X 
%Z FOR Codes: 111403 110903 110703


%0 Journal Article
%~ PubMed
%A Dale, Russell C
%A Gardiner, Alice
%A Antony, Jayne
%A Houlden, Henry
%T Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine.
%B Developmental Medicine and Child Neurology
%D 2012
%C United Kingdom
%I Wiley-Blackwell Publishing Ltd.
%V 54
%N 10
%P 958-960
%@ 0012-1622
%X PRRT2 is the gene recently associated with paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy, and choreoathetosis infantile convulsions. We report four family members with PRRT2 mutations who had heterogeneous paroxysmal disorders. The index patient had transient infantile paroxysmal torticollis, then benign infantile epilepsy that responded to carbamazepine. The index patient''s father had PKD and migraine with aphasia, and his two brothers had hemiplegic migraine with onset in childhood. All four family members had the same PRRT2 c.649dupC mutation. We conclude that heterogeneous paroxysmal disorders are associated with PRRT2 mutations and include paroxysmal torticollis and hemiplegic migraine. We propose that PRRT2 is a new gene for hemiplegic migraine.
%Z FOR Codes: 111403


%0 Journal Article
%~ PubMed
%A Banwell, Brenda
%A Dale, Russell C
%T Lymphohistiocytosis in the brain: recognition of a potentially reversible aspect of primary HLH.
%B Neurology
%D 2012
%C United States
%I Lippincott Williams & Wilkins
%V 78
%N 15
%P 1114-1115
%@ 1526-632X
%X 
%Z FOR Codes: 110904


%0 Journal Article
%~ PubMed
%A Dale, Russell C
%A Grattan-Smith, Padraic
%A Nicholson, Michelle
%A Peters, Greg B
%T Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study.
%B Developmental Medicine and Child Neurology
%D 2012
%C United Kingdom, United States
%I Wiley-Blackwell Publishing Ltd.
%V 54
%N 7
%P 618-623
%@ 0012-1622
%X Aim??? Chromosome microarray (CMA) can determine copy number variants such as microdeletions or microduplications. Microdeletions of movement disorder genes including epsilon-sarcoglycan (SGCE) and thyroid transcription factor-1 (TITF1) have been described in patients with myoclonus dystonia and benign hereditary chorea respectively. We examined whether CMA is a valuable tool in the investigation of children with suspected genetic movement disorders. Method??? A genetic movement disorder was suspected if there was a positive first-degree family history, or two or more of the following factors: normal or near-normal magnetic resonance imaging, negative history of brain injury, and negative investigations for metabolic disorders. Tic disorders were excluded. Twenty-five patients (18 males, seven females) with a mean age at movement disorder onset of 4???years 5???month (range 1mo-14y) were prospectively recruited with the following primary movement disorders: dystonia (n=10), paroxysmal kinesigenic dyskinesia (n=5), tremor (n=4), chorea (n=3), myoclonus (n=2), and paroxysmal non-kinesigenic dyskinesia (n=1). Comorbid associated features were common, particularly developmental delay or intellectual disability (19 out of 25) and attention-deficit-hyperactivity disorder (six out of 25). CMA was performed using Agilent aCGH 60K array. Results??? Seven out of twenty-five patients had a microdeletion determined by CMA. None of the microdeletions were considered benign variants. Four patients had a deletion of a known movement disorder gene including paroxysmal kinesigenic dyskinesia (PRRT2; n=2), SGCE (myoclonus dystonia, n=1), and TITF1 (benign hereditary chorea, n=1). Three patients had novel microdeletions of unknown but potential significance including 14q13.3 (chorea, n=1), 19p13.12 (tremor, n=1), and 19q13.12 (progressive dystonia). All seven patients had associated neurodevelopmental or behavioural problems. Interpretation??? Assays that determine copy number variants may be a valuable first-tier investigation in patients with suspected genetic movement disorders, particularly when associated with intellectual disability or developmental disorders. Microdeletion syndromes may help the search for new movement disorder genes.
%Z FOR Codes: 110904


%0 Journal Article
%~ PubMed
%A Khandaker, Gulam
%A Zurynski, Yvonne
%A Buttery, Jim
%A Marshall, Helen
%A Richmond, Peter C
%A Dale, Russell C
%A Royle, Jenny
%A Gold, Michael
%A Snelling, Tom
%A Whitehead, Bruce
%A Jones, Cheryl
%A Heron, Leon
%A McCaskill, Mary
%A Macartney, Kristine
%A Elliott, Elizabeth J
%A Booy, Robert
%T Neurologic complications of influenza A(H1N1)pdm09: Surveillance in 6 pediatric hospitals.
%B Neurology
%D 2012
%C United States
%I Lippincott Williams & Wilkins
%V 79
%N 14
%P 1474-1481
%@ 1526-632X
%X 
%Z FOR Codes: 111403 60502 110902


%0 Journal Article
%~ PubMed
%A Gardiner, Alice R
%A Bhatia, Kailash P
%A Stamelou, Maria
%A Dale, Russell C
%A Kurian, Manju A
%A Schneider, Susanne A
%A Wali, G M
%A Counihan, Tim
%A Schapira, Anthony H
%A Spacey, Sian D
%A Valente, Enza-Maria
%A Silveira-Moriyama, Laura
%A Teive, Hélio A G
%A Raskin, Salmo
%A Sander, Josemir W
%A Lees, Andrew
%A Warner, Tom
%A Kullmann, Dimitri M
%A Wood, Nicholas W
%A Hanna, Michael
%A Houlden, Henry
%T PRRT2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.
%B Neurology
%D 2012
%C United States
%I Lippincott Williams & Wilkins
%V 79
%N 21
%P 2115-2121
%@ 1526-632X
%X 
%Z FOR Codes: 111403


%0 Journal Article
%~ PubMed
%A Dale, Russell C
%A Lang, Bethan
%A Brilot, Fabienne
%A Polfrit, Yann
%A Smith, Grahame H H
%A Wong, Melanie
%T Treatment-responsive pandysautonomia in an adolescent with ganglionic α3-AChR antibodies.
%B European Journal of Paediatric Neurology
%D 2012
%C United Kingdom
%I Elsevier Ltd
%V 16
%N 4
%P 396-398
%@ 1532-2130
%X Autoimmune autonomic ganglionopathy (AAG) is a rare disorder that presents with pandysautonomia typically in middle age and elderly patients. AAG is typically associated with serum autoantibodies that bind to the alpha-3 subunit of the ganglionic acetylcholine receptor (??3-AChR Ab). We report a 13 year old girl who presented with gut pseudo-obstruction, bladder dysfunction and dilated pupils unresponsive to pilocarpine. She had positive ??3-AChR Ab plus other autoantibodies suggesting an autoimmune diathesis. Our patient was initially resistant to steroid therapy but responded to the addition of azathioprine resulting in a near complete clinical remission. We conclude that pandysautonomia associated with ??3-AChR Ab can occur in children and has multi-organ involvement.
%Z FOR Codes: 111403


%0 Journal Article
%~ PubMed
%A Pröbstel, A K
%A Dornmair, K
%A Bittner, R
%A Sperl, P
%A Jenne, D
%A Magalhaes, S
%A Villalobos, A
%A Breithaupt, C
%A Weissert, R
%A Jacob, U
%A Krumbholz, M
%A Kuempfel, T
%A Blaschek, A
%A Stark, W
%A Gärtner, J
%A Pohl, D
%A Rostasy, K
%A Weber, F
%A Forne, I
%A Khademi, M
%A Olsson, T
%A Brilot, F
%A Tantsis, E
%A Dale, R C
%A Wekerle, H
%A Hohlfeld, R
%A Banwell, B
%A Bar-Or, A
%A Meinl, E
%A Derfuss, T
%T Antibodies to MOG are transient in childhood acute disseminated encephalomyelitis.
%B Neurology
%D 2011
%C United States
%I Lippincott Williams & Wilkins
%V 77
%N 6
%P 580-8
%@ 1526-632X
%X To study the longitudinal dynamics of anti-myelin oligodendrocyte glycoprotein (MOG) autoantibodies in childhood demyelinating diseases.
%Z FOR Codes: 111403 110903


%0 Journal Article
%~ PubMed
%A Brilot, F
%A Merheb, V
%A Ding, A
%A Murphy, T
%A Dale, R C
%T Antibody binding to neuronal surface in Sydenham chorea, but not in PANDAS or Tourette syndrome.
%B Neurology
%D 2011
%C United States
%I Lippincott Williams & Wilkins
%V 76
%N 17
%P 1508-13
%@ 1526-632X
%X To test the hypothesis that Sydenham chorea (SC) immunoglobulin G (IgG) autoantibodies bind to specific neuronal surface proteins, whereas IgG from patients with pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS) or Tourette syndrome (TS) do not bind to neuronal surface proteins.
%Z FOR Codes: 1109 1114


%0 Journal Article
%~ PubMed
%A Dale, Russell C
%A Yin, Katie
%A Ding, Alice
%A Merheb, Vera
%A Varadkhar, Sophie
%A McKay, Damien
%A Singh-Grewal, Davinder
%A Brilot, Fabienne
%T Antibody binding to neuronal surface in movement disorders associated with lupus and antiphospholipid antibodies.
%B Developmental Medicine and Child Neurology
%D 2011
%C United Kingdom, United States
%I Mac Keith Press
%V 53
%N 6
%P 522-528
%@ 0012-1622
%X Aim??? Systemic lupus erythematosus is a multi-organ autoimmune disorder associated with autoantibodies of complex diversity. Antiphospholipid antibodies (aPL), which are commonly associated with lupus, create a pro-thrombotic tendency, but are also associated with non-thrombotic neurological features. Movement disorders are rare neuropsychiatric complications of lupus and antiphospholipid syndrome, and autoimmune and thromboembolic disease mechanisms have been proposed. Method??? We describe the clinical features, investigation findings, treatment, and outcome of six paediatric participants with movement disorders associated with lupus and/or aPL (six females, median age 13y, range 8-15). To examine the autoantibody hypothesis, we used a neuronal cell line with dopaminergic characteristics and measured serum antibody binding to neuronal cell-surface antigens using flow cytometry. For comparison with the six participants, we used serum from healthy individuals (n=12, six females, median age 11y, range 9-13) and children with other neurological diseases (n=13, seven females, median age 7y, range 2-15). Results??? Of the six participants, two had lupus only, two had lupus with aPL, and two had aPL only. The movement disorder was chorea in four and parkinsonism in two. All four participants with chorea had aPL and movement disorder relapses. The two participants with parkinsonism did not have aPL, but had a progressive course until rituximab or plasma exchange resulted in neuropsychiatric remission. All six participants demonstrated elevated serum antibody binding to neuronal cell-surface antigens compared with healthy individuals and those with other neurological diseases. Interpretation??? This report supports the association of chorea with aPL, but suggests a different autoimmune mechanism operates in lupus parkinsonism. The presence of antibody binding to neuronal cell-surface antigens supports a possible direct action of autoantibodies on neurons in patients with movement disorders associated with lupus and aPL.
%Z FOR Codes: 111403 110903


%0 Journal Article
%~ PubMed
%A Dale, Russell C
%A Tantsis, Esther
%A Merheb, Vera
%A Brilot, Fabienne
%T Cerebrospinal fluid B-cell expansion in longitudinally extensive transverse myelitis associated with neuromyelitis optica immunoglobulin G.
%B Developmental medicine and child neurology
%D 2011
%C United Kingdom, United States
%I Mac Keith Press
%V 53
%N 9
%P 856-60
%@ 0012-1622
%X A first episode of central nervous system (CNS) demyelination may represent heterogeneous entities such as acute disseminated encephalomyelitis, clinically isolated syndrome, neuromyelitis optica (NMO), or multiple sclerosis. As new immune therapies become available, it is increasingly important to make an early diagnosis. Autoantibodies such as NMO immunoglobulin G (IgG) and myelin oligodendrocyte glycoprotein IgG are increasingly being employed to define subgroups of CNS demyelination or guide treatment. Similarly, cerebrospinal fluid (CSF) immunophenotyping can demonstrate B-lymphocyte subpopulation expansion, which has been used to guide therapy in other autoimmune CNS disorders. We present a report on a 15-year-old male with longitudinally extensive transverse myelitis with magnetic resonance imaging findings of oedema, cavitation, and gadolinium enhancement. NMO-IgG and aquaporin 4 IgG were positive; thus, we diagnosed a limited form of NMO. Acute CSF immunophenotyping revealed a 3.6% expansion of CD19 B-cell populations, whereas a comparison group of five children (4 males, age range 2-15y; mean age 7y) with other neurological disorders showed only a 0.51% expansion (SD 0.25%). In view of the diagnosis of a ''limited form of neuromyelitis optica'', we therefore elected to treat him aggressively from the outset with a prolonged steroid regimen and mycophenylate mofetil. This case demonstrates a correlation between autoantibody production and CSF B lymphocyte expansion in an individual with CNS demyelination. These approaches could be used in individuals with a first episode of CNS demyelination to help delineate immunological subgroups and guide treatment.
%Z FOR Codes: 111403 110903


%0 Journal Article
%~ PubMed
%A Illingworth, Marjorie A
%A Hanrahan, Donncha
%A Anderson, Claire E
%A O'Kane, Kathryn
%A Anderson, Jennifer
%A Casey, Maureen
%A de Sousa, Carlos
%A Cross, J Helen
%A Wright, Sukvhir
%A Dale, Russell C
%A Vincent, Angela
%A Kurian, Manju A
%T Elevated VGKC-complex antibodies in a boy with fever-induced refractory epileptic encephalopathy in school-age children (FIRES).
%B Developmental Medicine and Child Neurology
%D 2011
%C United Kingdom, United States
%I Mac Keith Press
%V 53
%N 11
%P 1053-1057
%@ 0012-1622
%X Fever-induced refractory epileptic encephalopathy in school-age children (FIRES) is a clinically recognized epileptic encephalopathy of unknown aetiology. Presentation in previously healthy children is characterized by febrile status epilepticus. A pharmacoresistant epilepsy ensues, occurring in parallel with dramatic cognitive decline and behavioural difficulties. We describe a case of FIRES in a 4-year-old boy that was associated with elevated voltage-gated potassium channel (VGKC) complex antibodies and a significant clinical and immunological response to immunomodulation. This case, therefore, potentially expands the clinical phenotype of VGKC antibody-associated disease to include that of FIRES. Prior to immunomodulation, neuropsychology assessment highlighted significant attention, memory, and word-finding difficulties. The UK version of the Wechsler Preschool and Primary Scale of Intelligence assessment indicated particular difficulties with verbal skills (9th centile). Immunomodulation was initially administered as intravenous methylprednisolone (followed by maintenance oral prednisolone) and later in the disease course as regular monthly intravenous immunoglobulin infusions and low-dose azathioprine. Now aged 6???years, the seizure burden in this child is much reduced, although increased seizure frequency is observed in the few days before his monthly immunoglobulin infusions. Formal IQ assessment has not been repeated but there is no clinical suggestion of further cognitive regression. VGKC complex antibodies have been reported in a range of central and peripheral neurological disorders (predominantly presenting in adulthood), and the identification of elevated VGKC complex antibodies, combined with the response to immunotherapies in this child, supports an autoimmune pathogenesis in FIRES with potential diagnostic and therapeutic implications.
%Z FOR Codes: 111403 110903


%0 Journal Article
%~ PubMed
%A Dale, Russell C
%A Nasti, Julian J
%A Peters, Greg B
%T Familial 7q21.3 microdeletion involving epsilon-sarcoglycan causing myoclonus dystonia, cognitive impairment, and psychosis.
%B Movement disorders : official journal of the Movement Disorder Society
%D 2011
%C United States
%I John Wiley & Sons, Inc.
%V 26
%N 9
%P 1774-5
%@ 1531-8257
%X 
%Z FOR Codes: 1109 1114


%0 Journal Article
%~ PubMed
%A Suleiman, Jehan
%A Brenner, Tanja
%A Gill, Deepak
%A Troedson, Christopher
%A Sinclair, Adriane J
%A Brilot, Fabienne
%A Vincent, Angela
%A Lang, Bethan
%A Dale, Russell C
%T Immune-mediated steroid-responsive epileptic spasms and epileptic encephalopathy associated with VGKC-complex antibodies.
%B Developmental medicine and child neurology
%D 2011
%C United Kingdom, United States
%I Mac Keith Press
%V 53
%N 11
%P 1058-60
%@ 0012-1622
%X Autoantibodies that bind to voltage-gated potassium-channel complex proteins (VGKC-complex antibodies) occur frequently in adults with limbic encephalitis presenting with cognitive impairment and seizures. Recently, VGKC-complex antibodies have been described in a few children with limbic encephalitis, and children with unexplained encephalitis presenting with status epilepticus. We report a case of infantile-onset epileptic spasms and developmental delay compatible with epileptic encephalopathy. Our patient was a female infant, aged 4 months at presentation. She had evidence of immune activation in the central nervous system with elevated cerebrospinal fluid neopterin and mirrored oligoclonal bands, which prompted testing for autoantibodies. VGKC-complex antibodies were elevated (201 pmol/L, normal<100), but extended antibody testing, including leucine-rich glioma-inactivated 1 (LGI1) and contactin-associated protein 2 (CASPR2), was negative. The patient showed a partial response to steroid treatment, which was started late in the disease course. On review at 13 months of age, her development was consistent with an age of 5 to 6 months. These results suggest that VGKC-complex antibodies might represent a marker of immune therapy responsiveness in a subgroup of patients with infantile epileptic encephalopathy.
%Z FOR Codes: 111403 110903


%0 Journal Article
%~ PubMed
%A Dale, Russell C
%A Grattan-Smith, Padraic
%A Fung, Victor S C
%A Peters, Greg B
%T Infantile convulsions and paroxysmal kinesigenic dyskinesia with 16p11.2 microdeletion.
%B Neurology
%D 2011
%C United States
%I Lippincott Williams & Wilkins
%V 77
%N 14
%P 1401-2
%@ 1526-632X
%X 
%Z FOR Codes: 111403 110903


%0 Journal Article
%~ PubMed
%A Lo, Harriet P
%A Bertini, Enrico
%A Mirabella, Massimiliano
%A Domazetovska, Ana
%A Dale, Russell C
%A Petrini, Stefania
%A D'Amico, Adele
%A Valente, Enza Maria
%A Barresi, Rita
%A Roberts, Mark
%A Tozzi, Giulia
%A Tasca, Giorgio
%A Cooper, Sandra T
%A Straub, Volker
%A North, Kathryn N
%T Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies.
%B Neuromuscular disorders : NMD
%D 2011
%C United Kingdom
%I Elsevier Ltd
%V 21
%N 3
%P 194-203
%@ 1873-2364
%X Inherited rippling muscle disease is an autosomal dominant disorder usually associated with caveolin-3 mutations. Rare cases of acquired rippling muscle disease with abnormal caveolin-3 localisation have been reported, without primary caveolin-3 mutations and in association with myasthenia gravis and acetylcholine receptor autoantibodies, or thymoma. We present three new patients with electrically-silent muscle rippling and abnormal caveolin-3 localisation, but without acetylcholine receptor autoantibodies, or clinical or electrophysiological evidence of myasthenia gravis. An autoimmune basis for rippling muscle disease is supported by spontaneous recovery and normalisation of caveolin-3 staining in one patient and alleviation of symptoms in response to plasmapheresis and immunosuppression in another. These patients expand the autoimmune rippling muscle disease phenotype, and suggest that autoantibodies to additional unidentified muscle proteins result in autoimmune rippling muscle disease.
%Z FOR Codes: 110904


%0 Journal Article
%~ PubMed
%A Banwell, Brenda
%A Bar-Or, Amit
%A Giovannoni, Gavin
%A Dale, Russell C
%A Tardieu, Marc
%T Therapies for multiple sclerosis: considerations in the pediatric patient.
%B Nature Reviews. Neurology
%D 2011
%C United Kingdom
%I Nature Publishing Group
%V 7
%N 2
%P 109-122
%@ 1759-4766
%X Current and emerging therapies for multiple sclerosis (MS) offer promise for improved disease control and long-term clinical outcome. To date, these therapies have been evaluated solely in the context of adult MS. However, onset of MS in children is being increasingly recognized, and recent studies have identified a significant impact of MS onset during childhood on cognitive and physical functioning. Optimization of pediatric MS care requires that promising new therapies be made available to children and adolescents, but also that safety and tolerability and potential influence of therapies on the developing immune and neural networks of pediatric patients be closely considered. We propose care algorithms illustrating models for therapy that detail careful monitoring of pediatric patients with MS, provide definitions for inadequate treatment response and treatment escalation, and foster multinational collaboration in future therapeutic trials.
%Z FOR Codes: 110903


%0 Journal Article
%~ PubMed
%A Suleiman, J
%A Brenner, T
%A Gill, D
%A Brilot, F
%A Antony, J
%A Vincent, A
%A Lang, B
%A Dale, R C
%T VGKC antibodies in pediatric encephalitis presenting with status epilepticus.
%B Neurology
%D 2011
%C United States
%I Lippincott Williams & Wilkins
%V 76
%N 14
%P 1252-1255
%@ 1526-632X
%X Voltage-gated potassium channel antibodies (VGKC Ab) are associated with limbic encephalitis and neuromyotonia in adults. There have been no systematic investigations in children to date.
%Z FOR Codes: 110903


%0 Journal Article
%~ PubMed
%A Dale, Russell C
%A Singh, Harry
%A Troedson, Christopher
%A Pillai, Sekhar
%A Gaikiwari, Shilpa
%A Kozlowska, Kasia
%T A prospective study of acute movement disorders in children.
%B Developmental medicine and child neurology
%D 2010
%C United Kingdom, United States
%I Mac Keith Press
%V 52
%N 8
%P 739-48
%@ 0012-1622
%X The purpose of this study was to report a prospective cohort of children with acute-onset movement disorders.
%Z FOR Codes: 110903


%0 Journal Article
%~ PubMed
%A Chan, Sophelia H S
%A Wong, Virginia C N
%A Fung, Cheuk-wing
%A Dale, Russell C
%A Vincent, Angela
%T Anti-NMDA receptor encephalitis with atypical brain changes on MRI.
%B Pediatric Neurology
%D 2010
%C United States
%I Elsevier Inc.
%V 43
%N 4
%P 274-278
%@ 1873-5150
%X A young girl with antibodies to the N-methyl-D-aspartate receptor presented with a clinical syndrome suggestive of dyskinetic encephalitis lethargica with neuropsychiatric features at presentation, movement disorder, mutism, sleep disorder, and seizures. Persistent lesions in the white matter and pons were observed in magnetic resonance imaging of the brain, findings that have not been described previously in N-methyl-D-aspartate receptor antibody encephalitis.
%Z FOR Codes: 110903 110320


%0 Journal Article
%~ PubMed
%A Selter, R C
%A Brilot, F
%A Grummel, V
%A Kraus, V
%A Cepok, S
%A Dale, R C
%A Hemmer, B
%T Antibody responses to EBV and native MOG in pediatric inflammatory demyelinating CNS diseases.
%B Neurology
%D 2010
%C United States
%I Lippincott Williams & Wilkins
%V 74
%N 21
%P 1711-5
%@ 1526-632X
%X Epstein-Barr virus (EBV) has been discussed as a possible causative agent in inflammatory demyelinating diseases of the CNS. Cross-reactivity between EBV and myelin proteins has been proposed as a potential mechanism by which EBV could elicit an autoimmune response targeting the CNS. Recently, high antibody titers to native myelin oligodendrocyte glycoprotein (nMOG) were found in children affected by the first inflammatory demyelinating event. The relation between antibody responses to EBV and nMOG has not been addressed in children so far.
%Z FOR Codes: 110903


%0 Book Section
%A Vincent, Angela
%A Dale, Russell
%T Autoimmune Channelopathies and Other Antibody-Associated Neurological Disorders
%B Inflammatory and Autoimmune Disorders of the Nervous System in Children
%D 2010
%C London,  UK
%I MacKeith Press
%V 
%N 
%P 365-387
%@ 9781989683667
%E Vincent, Angela
%E Dale, Russell
%X 
%Z FOR Codes: 110904


%0 Journal Article
%~ PubMed
%A Dale, Russell C
%A Brilot, Fabienne
%T Biomarkers of inflammatory and auto-immune central nervous system disorders.
%B Current opinion in pediatrics
%D 2010
%C United States
%I Lippincott Williams & Wilkins
%V 22
%N 6
%P 718-25
%@ 1040-8703
%X Inflammatory and auto-immune disorders of the central nervous system are a heterogeneous group of disorders. Many of these disorders are potentially treatable with immune therapies that can reduce disability or prevent death. We review the clinical value of biomarkers which can aid in the diagnosis of paediatric inflammatory and auto-immune central nervous system (CNS) disorders.
%Z FOR Codes: 110903


%0 Book Section
%A Mikaeloff, Yann
%A Dale, Russell
%A Tardieu, Marc
%T Childhood Multiple Sclerosis
%B Inflammatory and Autoimmune Disorders of the Nervous System in Children
%D 2010
%C London,  UK
%I MacKeith Press
%V 
%N 
%P 48-64
%@ 9781989683667
%E Vincent, Angela
%E Dale, Russell
%X 
%Z FOR Codes: 110904


%0 Journal Article
%~ PubMed
%A Pillai, Sekhar C
%A Gill, Deepak
%A Webster, Richard
%A Howman-Giles, Robert
%A Dale, Russell C
%T Cortical Hypometabolism Demonstrated by PET in Relapsing NMDA Receptor Encephalitis.
%B Pediatric Neurology
%D 2010
%C United States
%I Elsevier Inc.
%V 43
%N 3
%P 217-220
%@ 1873-5150
%X N-methyl-d-aspartate (NMDA) receptor encephalitis is a newly defined type of autoimmune encephalitis. Two girls (age 3 years, case 1, and 7 years, case 2) with relapsing NMDA receptor encephalitis each had the classic clinical features of encephalopathy, movement disorders, psychiatric symptoms, seizures, insomnia, and mild autonomic dysfunction. Both patients had persistent neuropsychiatric disability, despite immune therapies. Positron emission tomography (PET) scans were performed during clinical relapse at 6 weeks (case 1) and 5 months (case 2). In both cases, the scans demonstrated reduced fluorodeoxyglucose metabolism in the cerebral cortex, with the temporal regions being most affected. PET imaging was more sensitive than magnetic resonance imaging in these patients. In contrast, the one previous report of acute NMDA receptor encephalitis indicated cortical hypermetabolism. Thus, NMDA receptor encephalitis may be associated with variable PET findings, possibly dependent upon the timing of the study, or other factors. Future studies should investigate whether cortical hypometabolism is associated with a relapsing course, and whether it is predictive of a poorer outcome in NMDA receptor encephalitis.
%Z FOR Codes: 110903


%0 Journal Article
%~ PubMed
%A Dale, Russell C
%A Gornall, Hannah
%A Singh-Grewal, Davinder
%A Alcausin, Melanie
%A Rice, Gillian I
%A Crow, Yanick J
%T Familial Aicardi-Gouti??res syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures.
%B American Journal of Medical Genetics. Part A
%D 2010
%C United States
%I John Wiley & Sons, Inc.
%V 152A
%N 4
%P 938-942
%@ 1552-4833
%X We report on two siblings doubly heterozygous for null mutations in the recently identified AGS5 gene SAMHD1. The older female child showed mild intellectual disability with microcephaly. Her brother demonstrated a significant spastic paraparesis with normal intellect and head size. Both children had an unclassified chronic inflammatory skin condition with chilblains, and recurrent mouth ulcers. One child had a chronic progressive deforming arthropathy of the small and large joints, with secondary contractures. This family illustrate the remarkable phenotypic diversity accruing from mutations in genes associated with Aicardi-Gouti??res syndrome (AGS). The association of arthropathy with SAMHD1 mutations highlights a phenotypic overlap of AGS with familial autoinflammatory disorders such as chronic infantile neurological cutaneous and articular syndrome (CINCA). This family therefore illustrate the need to consider mutation analysis of SAMHD1 in non-specific inflammatory phenotypes of childhood. We propose that arthropathy with progressive contractures should now be considered part of the spectrum of Aicardi-Gouti??res syndrome because of SAMHD1 mutations.
%Z FOR Codes: 110903


%0 Journal Article
%~ PubMed
%A Dale, Russell C
%A Melchers, Anna
%A Fung, Victor Sc
%A Grattan-Smith, Padraic
%A Houlden, Henry
%A Earl, John
%T Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency.
%B Developmental medicine and child neurology
%D 2010
%C United Kingdom, United States
%I Mac Keith Press
%V 52
%N 6
%P 583-6
%@ 0012-1622
%X Paroxysmal exercise-induced dystonia (PED) is one of the rarer forms of paroxysmal dyskinesia, and can occur in sporadic or familial forms. We report a family (male index case, mother and maternal grandfather) with autosomal dominant inheritance of paroxysmal exercise-induced dystonia. The dystonia began in childhood and was only ever induced after many minutes of exercise, and was never present at rest, or on initiation of movements. In addition, family members suffered restless legs syndrome (RLS), depression, and adult-onset Parkinsonism. The index case had low cerebrospinal fluid neurotransmitters and pterins. The PED and RLS stopped on initiation of L-Dopa therapy. Both live family members were found to have a nonsense mutation (p.E84X) in exon 1 of the GTP-cyclohydrolase 1 (GCH-1) gene. We propose that GCH-1 mutations should be considered a genetic cause of familial PED, especially if additional clinical features of monoaminergic deficiency are present in affected individuals.
%Z FOR Codes: 110903


%0 Book Section
%A Dale, Russell
%A Tenembaum, Silvia N
%T New International Definitions for Central Nervous System Demyelination Syndromes in Children
%B Inflammatory and Autoimmune Disorders of the Nervous System in Children
%D 2010
%C London,  UK
%I MacKeith Press
%V 
%N 
%P 14-19
%@ 9781989683667
%E Vincent, Angela
%E Dale, Russell
%X 
%Z FOR Codes: 110904


%0 Book Section
%A Dale, Russell
%T Other Immune-Mediated Extrapyramidal Movement Disorders
%B Inflammatory and Autoimmune Disorders of the Nervous System in Children
%D 2010
%C London,  UK
%I MacKeith Press
%V 
%N 
%P 174-189
%@ 9781989683667
%E Vincent, Angela
%E Dale, Russell
%X 
%Z FOR Codes: 110904


%0 Journal Article
%~ PubMed
%A Evesson, Frances J
%A Peat, Rachel A
%A Lek, Angela
%A Brilot, Fabienne
%A Lo, Harriet P
%A Dale, Russell C
%A Parton, Robert G
%A North, Kathryn N
%A Cooper, Sandra T
%T Reduced plasma membrane expression of dysferlin mutants is due to accelerated endocytosis via a syntaxin-4 associated pathway.
%B The Journal of biological chemistry
%D 2010
%C United States
%I American Society for Biochemistry and Molecular Bi
%V 285
%N 37
%P 28529-39
%@ 1083-351X
%X Ferlins are an ancient family of C2 domain-containing proteins, with emerging roles in vesicular trafficking and human disease. Dysferlin mutations cause inherited muscular dystrophy, and dysferlin also shows abnormal plasma membrane expression in other forms of muscular dystrophy. We establish dysferlin as a short-lived (protein half-life approximately 4-6 h) and transitory transmembrane protein (plasma membrane half-life approximately 3 h), with a propensity for rapid endocytosis when mutated, and an association with a syntaxin-4 endocytic route. Dysferlin plasma membrane expression and endocytic rate is regulated by the C2B-FerI-C2C motif, with a critical role identified for C2C. Disruption of C2C dramatically reduces plasma membrane dysferlin (by 2.5-fold), due largely to accelerated endocytosis (by 2.5-fold). These properties of reduced efficiency of plasma membrane expression due to accelerated endocytosis are also a feature of patient missense mutant L344P (within FerI, adjacent to C2C). Importantly, dysferlin mutants that demonstrate accelerated endocytosis also display increased protein lability via endosomal proteolysis, implicating endosomal-mediated proteolytic degradation as a novel basis for dysferlin-deficiency in patients with single missense mutations. Vesicular labeling studies establish that dysferlin mutants rapidly transit from EEA1-positive early endosomes through to dextran-positive lysosomes, co-labeled by syntaxin-4 at multiple stages of endosomal transit. In summary, our studies define a transient biology for dysferlin, relevant to emerging patient therapeutics targeting dysferlin replacement. We introduce accelerated endosomal-directed degradation as a basis for lability of dysferlin missense mutants in dysferlinopathy, and show that dysferlin and syntaxin-4 similarly transit a common endosomal pathway in skeletal muscle cells.
%Z FOR Codes: 110904


%0 Journal Article
%~ PubMed
%A Webster, R I
%A Hazelton, B
%A Suleiman, J
%A Macartney, K
%A Kesson, A
%A Dale, R C
%T Severe encephalopathy with Swine origin influenza a h1n1 infection in childhood: case reports.
%B Neurology
%D 2010
%C United States
%I Lippincott Williams & Wilkins
%V 74
%N 13
%P 1077-1078
%@ 1526-632X
%X 
%Z FOR Codes: 110903


%0 Journal Article
%~ PubMed
%A Brilot, Fabienne
%A Dale, Russell C
%A Selter, Rebecca C
%A Grummel, Verena
%A Reddy Kalluri, Sudhakar
%A Aslam, Muhammad
%A Busch, Verena
%A Zhou, Dun
%A Cepok, Sabine
%A Hemmer, Bernhard
%T Antibodies to native myelin oligodendrocyte glycoprotein in children with inflammatory demyelinating central nervous system disease.
%B Annals of neurology
%D 2009
%C United States
%I John Wiley & Sons, Inc.
%V 66
%N 6
%P 833-42
%@ 1531-8249
%X Myelin oligodendrocyte glycoprotein (MOG) is a candidate target antigen in demyelinating diseases of the central nervous system (CNS). Although MOG is encephalitogenic in different animal models, the relevance of this antigen in human autoimmune diseases of the CNS is still controversial.
%Z FOR Codes: 110903


%0 Journal Article
%~ PubMed
%A Forrest, Katharine M L
%A Young, Helen
%A Dale, Russell C
%A Gill, Deepak S
%T Benefit of corticosteroid therapy in Angelman syndrome.
%B Journal of Child Neurology
%D 2009
%C United States
%I Sage Publications, Inc.
%V 24
%N 8
%P 952-958
%@ 1708-8283
%X Angelman syndrome is often associated with an intractable seizure disorder. We describe 4 children who demonstrated an excellent response to corticosteroid therapy. The benefits included not only reduction in clinical seizures but also modification of the "typical'''' Angelman electroencephalogram. In addition, there was improvement in the myoclonic jerks, sleep pattern, and developmental progress. Corticosteroids appeared to have a broad benefit on the epileptic encephalopathy. We believe that these cases pose a challenge to the conventional management of intractable epilepsy in Angelman syndrome.
%Z FOR Codes: 110904


%0 Journal Article
%~ PubMed
%A Dale, Russell C
%A Brilot, Fabienne
%A Fagan, Elizabeth
%A Earl, John
%T Cerebrospinal fluid neopterin in paediatric neurology: a marker of active central nervous system inflammation.
%B Developmental Medicine and Child Neurology
%D 2009
%C United Kingdom, Unit
%I Mac Keith Press
%V 51
%N 4
%P 317-323
%@ 0012-1622
%X AIM: Cerebrospinal fluid (CSF) neopterin production is increased by interferon-gamma stimulation and appears to act as a marker of intrathecal immune activation. We aimed to test the usefulness of elevated CSF neopterin as a biological marker of central nervous system (CNS) inflammation. METHOD: We retrospectively reviewed CSF neopterin in 158 children (89 males, 69 females, mean age 4y 1mo, SD 3y 11mo, range 1mo-15y). RESULTS: CSF neopterin levels in children with chronic static CNS disorders (n=105) were predominantly low, suggesting that inflammation is rare in these patients. We created an upper value of normal (chronic static group 95th centile 27.4 nmol/l). CSF neopterin was elevated in all 10 patients with acute encephalitis and in 10 of 12 patients with other acute inflammatory CNS disorders (demyelination, post-infectious ataxia, myelitis). CSF neopterin was also significantly elevated in patients with chronic progressive disorders of inflammatory origin. Interestingly, CSF neopterin was elevated in four of six patients with chronic static disorders who were tested during a febrile exacerbation of seizures or dystonia, suggesting that intrathecal immune activation may be important in this setting. INTERPRETATION: Neopterin has a short half-life and was useful for monitoring inflammation activity in a patient with relapsing-remitting encephalitis. CSF neopterin is a useful marker of inflammation in a broad range of acute and chronic CNS disorders, and is a significantly more sensitive marker of inflammation than CSF pleocytosis.
%Z FOR Codes: 60104 110903 110707


%0 Journal Article
%~ PubMed
%A Martino, Davide
%A Dale, Russell C
%A Gilbert, Donald L
%A Giovannoni, Gavin
%A Leckman, James F
%T Immunopathogenic mechanisms in tourette syndrome: A critical review.
%B Movement Disorders
%D 2009
%C United States
%I John Wiley & Sons, Inc.
%V 24
%N 9
%P 1267-1279
%@ 1531-8257
%X Tourette syndrome (TS) has a multifactorial etiology, in which genetic, environmental, immunological and hormonal factors interact to establish vulnerability. This review: (i) summarizes research exploring the exposure of TS patients to immune-activating environmental factors, and (ii) focuses on recent findings supporting a role of the innate and adaptive immune systems in the pathogenesis of TS and related disorders. A higher exposure prior to disease onset to group A beta-haemolytic streptococcal (GABHS) infections in children with tics and obsessive-compulsive (OC) symptoms has been documented, although their influence upon the course of disease remains uncertain. Increased activation of immune responses in TS is suggested by changes in gene expression profiles of peripheral immune cells, relative frequency of lymphocyte subpopulations, and synthesis of immune effector molecules. Increased activity of cell-mediated mechanisms is suggested by the increased expression of genes controlling natural killer and cytotoxic T cells, increased plasma levels of some pro-inflammatory cytokines which correlate with disease severity, and increased synthesis of antineuronal antibodies. Important methodological differences might account for some inconsistency among results of studies addressing autoantibodies in TS. Finally, a general predisposition to autoimmune responses in TS patients is indicated by the reduced frequency of regulatory T cells, which induce tolerance towards self-antigens. Although the pathogenic role of immune activation in TS has not been definitively proven, a pathophysiological model is proposed to explain the possible effect of immunity upon dopamine transmission regulation and the generation of tics.
%Z FOR Codes: 110903


%0 Journal Article
%~ PubMed
%A Dale, Russell C
%A Irani, Sarosh R
%A Brilot, Fabienne
%A Pillai, Sekhar
%A Webster, Richard
%A Gill, Deepak
%A Lang, Bethan
%A Vincent, Angela
%T N-methyl-D-aspartate receptor antibodies in pediatric dyskinetic encephalitis lethargica.
%B Annals of neurology
%D 2009
%C United States
%I John Wiley & Sons, Inc.
%V 66
%N 5
%P 704-9
%@ 1531-8249
%X Encephalitis lethargica (EL) describes an encephalitis with psychiatric, sleep, and extrapyramidal movement disorders. Dyskinetic and parkinsonian forms have been described. EL shares clinical features with the anti-N-methyl-D-aspartate receptor (NMDAR-Ab) encephalitis. We studied 20 sera from pediatric patients with contemporary EL. Ten sera (from 2 males and 8 females, aged 1.3-13 years) and 6/6 cerebrospinal fluid samples were positive for NMDAR-Ab. NMDAR-Ab-positive patients had dyskinesias, agitation, seizures, and insomnia, whereas parkinsonism and somnolence dominated in the NMDAR-Ab-negative children. We were unable to identify any tumors. The dyskinetic form of EL is an NMDAR-Ab encephalitis and can affect very young children.
%Z FOR Codes: 110903


%0 Journal Article
%~ PubMed
%A Dale, Russell C
%A Brilot, Fabienne
%A Banwell, Brenda
%T Pediatric central nervous system inflammatory demyelination:  acute disseminated encephalomyelitis, clinically isolated  syndromes, neuromyelitis optica, and multiple sclerosis.
%B Current Opinion in Neurology
%D 2009
%C United States
%I Lippincott Williams & Wilkins
%V 22
%N 3
%P 233-240
%@ 1473-6551
%X PURPOSE OF REVIEW: We review the recent consensus definitions for acute disseminated encephalomyelitis,clinically isolated syndromes, neuromyelitis optica, and multiple sclerosis (MS) in children. We also discuss the importance of clinically defined consistency, the need for biomarker-based patient delineation, the likelihood of subsequent MS diagnosis following acute demyelination, and current therapeutic options. RECENT FINDINGS: Studies of children after a first episode of demyelination have identified disease onset in adolescence, intrathecal oligoclonal bands and optic neuritis as associated with a higher MS risk, whereas prepubertal onset, presence of polyfocal features with encephalopathy, and transverse myelitis have been associated with a lower risk of subsequent MS. The relapsing-remitting form of MS accounts for over 96% of all MS in children. Neuromyelitis optica appears to be a distinct clinical and biological entity for which neuromyelitis optica IgG provides a high degree of specificity. Neuroimaging plays a key role in the diagnosis of acute demyelination, and serial imaging can provide evidence of lesion dissemination in time that can confirm a diagnosis of MS even in the absence of clinical relapse. SUMMARY: Although clinical definitions, increased awareness, and MRI have contributed to the increasing identification of acute demyelination and MS in children, challenges remain in predicting MS risk. Identification of reliable biomarkers or application of more advanced neuroimaging techniques would serve as invaluable tools to distinguish monophasic demyelination from the first attack of MS.
%Z FOR Codes: 110903 110701


%0 Journal Article
%~ PubMed
%A Dale, Russell C
%T Acute disseminated encephalomyelitis: where does it start and where does it stop?
%B Developmental medicine and child neurology
%D 2008
%C UK, US.
%I Mac Keith Press
%V 50
%N 5
%P 326-327
%@ 0012-1622
%X 
%Z FOR Codes: 110902


%0 Journal Article
%~ PubMed
%A Troedson, Chris
%A Gill, Deepak
%A Dale, Russell C
%T Emergence of acute necrotising encephalopathy in Australia.
%B Journal of paediatrics and child health
%D 2008
%C Via Bradano 3/C, Rome, Italy, 00199
%I Blackwell Science Asia
%V 44
%N 10
%P 599-601
%@ 1440-1754
%X 
%Z FOR Codes: 110903


%0 Journal Article
%~ PubMed
%A Branson, Joceline A
%A Dale, Russell C
%T Transient bilateral blindness and posterior reversible encephalopathy syndrome: a rare complication of enuresis treatment.
%B Journal of paediatrics and child health
%D 2008
%C United Kingdom
%I Wiley-Blackwell Publishing Ltd.
%V 44
%N 6
%P 380-382
%@ 1440-1754
%X Enuresis is a common paediatric problem which is sometimes treated with anticholinergic drugs. We report a 4-year-old girl who presented with acute bilateral blindness, a focal seizure and hypertension 10 days after commencing oxybutynin to treat enuresis. Magnetic resonance imaging brain showed features of posterior reversible encephalopathy syndrome, a recognised but rare complication of hypertension in children. Discontinuing the oxybutynin leads to complete neurological recovery associated with normalisation of her blood pressure. We believe this case represents a rare complication of anticholinergic therapy. Posterior reversible encephalopathy syndrome is a treatable and reversible cause of acute encephalopathy with blindness, as long as an early diagnosis is made.
%Z FOR Codes: 110903


%0 Journal Article
%~ PubMed
%A Martino, Davide
%A Defazio, Giovanni
%A Church, Andrew J
%A Dale, Russell C
%A Giovannoni, Gavin
%A Robertson, Mary M
%A Orth, Michael
%T Antineuronal antibody status and phenotype analysis in Tourette's syndrome.
%B Movement disorders : official journal of the Movement Disorder Society
%D 2007
%C United States
%I John Wiley & Sons, Inc.
%V 22
%N 10
%P 1424-1429
%@ 0885-3185
%X The Gilles de la Tourette syndrome (GTS) spectrum includes psychiatric comorbidities, mainly obsessive-compulsive disorder (OCD) and attention-deficit-hyperactivity disorder (ADHD). The role of environmental factors, e.g., antineuronal antibodies (ANeA), remains unclear. We compared the clinical features of ANeA-positive and ANeA-negative patients in 53 children and 75 adults with GTS. All diagnoses were made according to DSM-IV-TR criteria. A positive ANeA Western immunoblot showed bands for at least 1 of 3 reported striatal antigens (40, 45, and 60 kDa). Twelve children (23%) and 18 adults (25%) with GTS were ANeA-positive. Disease duration, tic phenomenology and severity, frequency of echo/pali/coprophenomena, self-injurious and aggressive behavior, or frequency of OCD comorbidity did not significantly differ between ANeA-positive and negative patients. Similar findings were obtained analyzing separately the three different antibody reactivities. A comorbid diagnosis of ADHD was significantly less frequent in GTS patients positive for the anti-60 kDa antibody only. Using a multivariate logistic regression model, adjusting for age, gender, and age at disease onset, a comorbid diagnosis of ADHD remained inversely associated with anti-60 kDa antibodies (odds ratio = 0.14; P = 0.002; 95% confidence interval 0.04-0.49). ANeA status does not differentiate a specific phenotype of GTS.
%Z FOR Codes: 1109


%0 Journal Article
%~ PubMed
%A Dale, Russell C
%A Webster, Richard
%A Gill, Deepak
%T Contemporary encephalitis lethargica presenting with agitated catatonia, stereotypy, and dystonia-parkinsonism.
%B Movement disorders : official journal of the Movement Disorder Society
%D 2007
%C United States
%I John Wiley & Sons Inc.
%V 22
%N 15
%P 2281-4
%@ 0885-3185
%X Encephalitis lethargica (EL) syndrome was classically described by Von Economo and has somnolent-ophthalmoplegic, hyperkinetic, and amyostatic-akinetic forms. We describe 2 recent cases of EL characterized by an acute encephalitis with mixed movement disorders (dystonia-Parkinsonism plus stereotypy) and psychiatric disorders (agitated catatonia, coprolalia, and echo phenomena). Both patients suffered concurrent hyperkinetic and Parkinsonian features resulting in therapeutic challenges. Bradykinetic features responded to dopamine replacement therapy and both patients also had adverse affects to dopamine antagonists (oculogyric crises plus neuroleptic malignant syndrome). Investigation was unremarkable other than the presence of CSF lymphocytosis and oligoclonal bands. Despite prolonged in-patient stays and intensive care management, both patients have made complete recoveries. We believe these cases support the hypothesis that this syndrome is an inflammatory encephalitis that specifically effects dopamine neurotransmission.
%Z FOR Codes: 110903


%0 Journal Article
%~ PubMed
%A Dale, Russell C
%A Pillai, Sekhar C
%T Early relapse risk after a first CNS inflammatory demyelination episode: examining international consensus definitions.
%B Developmental medicine and child neurology
%D 2007
%C UK, US.
%I Mac Keith Press
%V 49
%N 12
%P 887-893
%@ 0012-1622
%X The International Pediatric Multiple Sclerosis Study Group (IPMS) has recently proposed consensus definitions for paediatric multiple sclerosis (MS) and related disorders. The term''acute disseminated encephalomyelitis''(ADEM) has been used previously to describe any monophasic episode of disseminated demyelination. The study group now propose that ADEM must be multifocal, polysymptomatic, and include encephalopathy (as an essential requirement). An alternative diagnosis for a first acute inflammatory event is''clinically isolated syndrome''(CIS). A CIS event may be either monofocal (such as isolated optic neuritis) or multifocal, but cannot include encephalopathy. As with adults, children with two or more discrete demyelinating events separated in time and space meet criteria for MS. In children with MS, the demyelination events must not meet ADEM criteria. To test the usefulness of these new criteria, a new cohort of 40 patients (18 males, 22 females; mean age 8y [SD 4y 4mo]) with central nervous system (CNS) demyelination were studied. Using IPMS definitions, the presenting diagnosis was ADEM in 12 patients and CIS in 28 patients. At presentation, patients with CIS were more likely to have intrathecal synthesis of oligoclonal bands and fulfil KIDMUS MS magnetic resonance imaging criteria, compared with patients with ADEM (p<0.025). Patients were followed-up for a mean of 2 years 2 months. Only one of 12 patients with ADEM went on to develop MS during the study period, whereas 13 of 28 patients with CIS relapsed and fulfilled a diagnosis of MS (p<0.025). The new diagnostic criteria for ADEM may be criticized for being overly restrictive (particularly with encephalopathy being an essential criterion), and it is suspected that many practising physicians will be of the opinion that these new criteria will underdiagnose ADEM, and overdiagnose MS at the expense of multiphasic ADEM. However, it is hoped that these new criteria may improve prognostic specificity and provide uniformity to future paediatric CNS demyelination research.
%Z FOR Codes: 110903


%0 Journal Article
%~ PubMed
%A Dale, Russell C
%A Candler, Paul M
%A Church, Andrew J
%A Wait, Robin
%A Pocock, Jennifer M
%A Giovannoni, Gavin
%T Neuronal surface glycolytic enzymes are autoantigen targets in post-streptococcal autoimmune CNS disease.
%B Journal of neuroimmunology
%D 2007
%C Netherlands
%I Elsevier BV
%V 172
%N 1-2
%P 187-97
%@ 0165-5728
%X Infection with the Group A Streptococcus (GAS) can result in immune mediated brain disease characterised by a spectrum of movement and psychiatric disorders. We have previously described anti-neuronal antibodies in patients that bind to a restricted group of brain antigens with molecular weights 40 kDa, 45 kDa (doublet) and 60 kDa. The aim of this study was to define these antigens using 2-dimensional electrophoresis or ion exchange and hydrophobic interaction chromatography, followed by mass spectrometry. The findings were confirmed using commercial antibodies, commercial antigens and recombinant human antigens. The autoantigens were neuronal glycolytic enzymes--NGE (pyruvate kinase M1, aldolase C, neuronal-specific and non-neuronal enolase). These are multifunctional proteins that are all expressed intracellularly and on the neuronal cell surface. On the neuronal plasma membrane, NGE are involved in energy metabolism, cell signalling and synaptic neurotransmission. Anti-NGE antibodies were more common in the 20 unselected post-streptococcal CNS patients compared to 20 controls. In vitro experiments using cultured neurons showed that commercial anti-NGE antibodies induced apoptosis compared to blank incubation and control anti-HuD antibody. GAS also expresses glycolytic enzymes on cell surfaces that have 0-49% identity with human NGE, suggesting molecular mimicry and autoimmune cross-reactivity may be the pathogenic mechanism in post-streptococcal CNS disease.
%Z FOR Codes: 110904


%0 Journal Article
%~ PubMed
%A Chapman, Miles D
%A Thompson, Edward J
%A Candler, Paul M
%A Dale, Russell C
%A Church, Andrew J
%A Giovannoni, Gavin
%T Quantitative demonstration of intrathecal synthesis of high affinity immunoglobulin G in herpes simplex encephalitis using affinity-mediated immunoblotting.
%B Journal of Neuroimmunology
%D 2007
%C Netherlands
%I Elsevier BV
%V 185
%N 1-2
%P 130-135
%@ 0165-5728
%X Three paired serial samples of CSF and serum (from days 8, 13 and 22) were taken from a patient referred to the National Hospital for Neurology and Neurosurgery with what was duly confirmed as having herpes simplex encephalitis using PCR. The samples were investigated using affinity-mediated immunoblotting followed by incubation with sodium thiocyanate. Digitisation of the blots enabled further analysis. We showed that the clones of antigen-specific IgG, which were produced intrathecally, were of higher relative affinity than polyclonal antigen-specific IgG.
%Z FOR Codes: 1109


%0 Journal Article
%~ PubMed
%A O'Connor, Kevin C
%A McLaughlin, Katherine A
%A De Jager, Philip L
%A Chitnis, Tanuja
%A Bettelli, Estelle
%A Xu, Chenqi
%A Robinson, William H
%A Cherry, Sunil V
%A Bar-Or, Amit
%A Banwell, Brenda
%A Fukaura, Hikoaki
%A Fukazawa, Toshiyuki
%A Tenembaum, Silvia
%A Wong, Susan J
%A Tavakoli, Norma P
%A Idrissova, Zhannat
%A Viglietta, Vissia
%A Rostasy, Kevin
%A Pohl, Daniela
%A Dale, Russell C
%A Freedman, Mark
%A Steinman, Lawrence
%A Buckle, Guy J
%A Kuchroo, Vijay K
%A Hafler, David A
%A Wucherpfennig, Kai W
%T Self-antigen tetramers discriminate between myelin autoantibodies to native or denatured protein.
%B Nature Medicine
%D 2007
%C United States
%I Nature Publishing Group
%V 13
%N 2
%P 211-217
%@ 1078-8956
%X The role of autoantibodies in the pathogenesis of multiple sclerosis (MS) and other demyelinating diseases is controversial, in part because widely used western blotting and ELISA methods either do not permit the detection of conformation-sensitive antibodies or do not distinguish them from conformation-independent antibodies. We developed a sensitive assay based on self-assembling radiolabeled tetramers that allows discrimination of antibodies against folded or denatured myelin oligodendrocyte glycoprotein (MOG) by selective unfolding of the antigen domain. The tetramer radioimmunoassay (RIA) was more sensitive for MOG autoantibody detection than other methodologies, including monomer-based RIA, ELISA or fluorescent-activated cell sorting (FACS). Autoantibodies from individuals with acute disseminated encephalomyelitis (ADEM) selectively bound the folded MOG tetramer, whereas sera from mice with experimental autoimmune encephalomyelitis induced with MOG peptide immunoprecipitated only the unfolded tetramer. MOG-specific autoantibodies were identified in a subset of ADEM but only rarely in adult-onset MS cases, indicating that MOG is a more prominent target antigen in ADEM than MS.
%Z FOR Codes: 1109


%0 Journal Article
%A Dale, Russell
%A Church, AJ
%A Candler, PM
%A Chapman, M
%A Martino, D
%A Giovannoni, G
%A Singer, Harvey S
%A Hong, John J
%A Yoon, Dustin Y
%A Williams, Phillip N
%T Serum autoantibodies do not differentiate PANDAS and Tourette syndrome from controls
%B Neurology
%D 2007
%C United States
%I Lippincott Williams and Wilkins
%V 66
%N 
%P 1612
%@ 0028-3878
%X 
%Z FOR Codes: 110904


%0 Book Section
%A Martino, Davide
%A Dale, Russell
%T Post-streptococcal autoimmune brain disorder
%B Recent Advances in Paediatrics 23
%D 2006
%C United States
%I Royal Society of Medicine Press Ltd.
%V 
%N 
%P 17-32
%@ 1853156523
%E David, Timothy J.
%X 
%Z FOR Codes: 110904 111403


%0 Journal Article
%A Dale, Russell
%A Church, AJ
%A Candler, PM
%A Chapman, M
%A Martino, D
%A Giovannoni, G
%A Singer, Harvey S
%A Hong, John J
%A Yoon, Dustin Y
%A Williams, Phillip N
%T Serum autoantibodies do not differentiate PANDAS and Tourette syndrome from controls
%B Neurology
%D 2006
%C United States
%I Lippincott Williams & Wilkins
%V 66
%N 10
%P 1612
%@ 1526-632X
%X 
%Z FOR Codes: 110904