Test Detail
Neuronal ceroid lipofuscinosis (NCL) of the American Staffordshire terrier
Neurological · Dog
Adult-onset neurodegenerative lysosomal storage disease of the American Staffordshire terrier, historically known as the breed's 'old cerebellar ataxia'. It produces accumulation of autofluorescent lipofuscin material in neurons and progressive degeneration of the central nervous system. It is inherited in an autosomal recessive manner and is associated with a mutation in ARSG.
Incidence
American Staffordshire terrier. Limited data on population frequency.
Breeder management
- Genotype breeding dogs before mating
- Do not cross two carriers: 25 % risk of affected homozygotes
- Progressively replace carrier lines while preserving genetic diversity
- A carrier may be crossed with a clear individual; the offspring intended for breeding must be tested
- Exclude affected animals from breeding
- Do not cross two carriers: 25 % risk of affected homozygotes
- Progressively replace carrier lines while preserving genetic diversity
- A carrier may be crossed with a clear individual; the offspring intended for breeding must be tested
- Exclude affected animals from breeding
Specialist notes
Differential diagnosis with other canine NCLs (Teckel NCL2/TPP1, English Setter NCL8/CLN8) and with degenerative cerebellar ataxias. Autofluorescence of nervous tissue on histopathology is diagnostic.
References
1. Abitbol M et al. 2010, una mutación de la arilsulfatasa G (ARSG) canina asociada a lipofuscinosis neuronal ceroide (PMID 20679209)
2. OMIA:001503 Lipofuscinosis neuronal ceroide (ARSG)
2. OMIA:001503 Lipofuscinosis neuronal ceroide (ARSG)