Neuronal ceroid lipifuscinosis (NCL) - American Staffordshire Terrier*

General description

NCL (also called Ataxia) is a neurodegenerative disease: the clinical course includes increasing levels of agitation and possible outbursts of aggression, hallucinations, hyperactivity and epileptic fits. Most animals lose their ability to coordinate everyday muscular activities. As the extent of neurodegeneration increases, all affected dogs develop psychological abnormalities and ataxia.

Breeds

American Staffordshire Terrier

Order details
Test number8396
AbbreviationNCL
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexneurological
Inheritanceautosomal recessive
Causalitycausally
GeneARSG
MutationG-A
LiteratureOMIA:001503-9615
Detailed description

NCL is a neurodegenerative disease, caused by lysosomal storage dysfunction.
The clinical course includes increasing levels of agitation and possible outbursts of aggression, hallucinations, hyperactivity and epileptic fits. Most animals lose their ability to coordinate everyday muscular activities. As the extent of neurodegeneration increases, all affected dogs develop psychological abnormalities and ataxia.

* Service is done by partner lab