Disorder - Neuronal ceroid lipofuscinosis; Ceroid lipofuscinosis

Organ Systems Involved
Nervous/sensory

Alternative disorders described within LIDA

Niemann-Pick disease; Gangliosidosis

Alternative Names
Amaurotic idiocy

Presenting Signs

Neuronal ceroid lipofuscinosis, or ceroid lipofuscinosis, is a genetic disorder causing degeneration of the nervous system. It is inherited recessively; this means that both parents must carry the gene for any of the offspring to be affected. In this disease a material accumulates in the central nervous system. It is thought to be a complex fat (lipid) related to lipofuscin or ceroid. In other species, including humans, the lipid may be stored outside of the nervous system as well, however, in the cat this does not seem to occur. This stored material causes a loss of cells throughout the brain. It is also stored within the lysosomes (cells which mop up toxins and unwanted cells and destroy them). This material impedes the functioning of the muscle and brain cells, and leads to clinical signs including myoclonus (sudden twitching of muscles), seizures, ataxia (uncoordinated gait) and loss of vision.

Cats at Risk

Usually between 7-22 months at onset of clinical signs of disease

Breeds Affected
Siamese


PubMed References
Neuronal ceroid lipofuscinosis; Ceroid lipofuscinosis

Contributor
Thea Couture