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.

American Staffordshire terrier. Limited data on population frequency.

- Progressive cerebellar ataxia with adult onset
- Behavioural alterations
- Epileptic seizures
- Possible visual impairment
- Slowly progressive course

Neuronal ceroid lipofuscinosis of the American Staffordshire Terrier and pit bull breeds was described as an adult-onset form with autosomal recessive inheritance. Abitbol et al. (2010) identified the causal variant in exon 2 of the ARSG gene (arylsulfatase G), c.296G>A p.(R99H), which markedly reduces sulfatase activity and segregates with the disease. ARSG does not belong to the classic CLN genes and should not be confused with NCL10 (CTSD gene), which is a different entity.

- 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

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.

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)