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Neuronal Ceroid Lipofuscinosis 4a (NCL4a)

General

Disease Name
Neuronal Ceroid Lipofuscinosis 4a (NCL4a)
OMIA
1503
Gene Name
ARSG
Mutation
c.296G>A
OMIM
204300
Disease Code
NCL4a
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Neuronal ceroid lipofuscinosis - adult onset 4A, cerebellar ataxia, cerebellar cortical degeneration
Details
The Neuronal ceroid lipofuscinosis (NCLs) are a group of inherited neurodegenerative diseases characterized by accumulation of autofluorescent cytoplasmic antibodies within cells of the nervous system. Affected dogs typically exhibit a condition of cerebellar dysfunction in which voluntary muscular movements tend to result in loss of control and coordination. Symptoms (3-5 years of age) : problems with balance, abnormal eye movements and stiffening of the body. Disease progression: Difficulty in walking, frequent falling, seizures, and behavioural changes
Details 2
The Neuronal ceroid lipofuscinosis (NCLs) are a group of inherited neurodegenerative diseases characterized by accumulation of autofluorescent cytoplasmic antibodies within cells of the nervous system. Affected dogs typically exhibit a condition of cerebellar dysfunction in which voluntary muscular movements tend to result in loss of control and coordination. Symptoms (3-5 years of age) : problems with balance, abnormal eye movements and stiffening of the body. Disease progression: Difficulty in walking, frequent falling, seizures, and behavioural changes
Published
Abitbol, M., Thibaud, J.L., Olby, N.J., Hitte, C., Puech, J.P., Maurer, M., Pilot-Storck, F., Hedan, B., Dreano, S., Brahimi, S., Delattre, D., Andre, C., Gray, F., Delisle, F., Caillaud, C., Bernex, F., Panthier, J.J., Aubin-Houzelstein, G., Blot, S., Tiret, L. : A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis. Proc Natl Acad Sci U S A 107:14775-80, 2010. Pubmed reference: 20679209. DOI: 10.1073/pnas.0914206107.
Body/System/Process
Metabolic
Inheritance
AR
Gene Name Text
arylsulfatase G
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