Neuronal Ceroid Lipofuscinosis 10, NCL10

 

Gene: CTSD

Transmission: Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Substitution, CTSD gene; c.597 G>A, p.(M199I), exon5

Medical systems: Neurological, lysosomal storage disease

Breed: American Bulldog

Age of onset of symptoms : Young age

The American Bulldog Neuronal Ceroid Lipofuscinosis 10 is a disease caused by an enzymatic defect in lysosomes that is characterized by the accumulation of metabolic byproducts in the cells.  Nerve cells are particularly affected, especially cells within the brain stem and spinal cord.  Affected animals show clinical signs such as ataxia, abnormal gait, weakness and hind limb paralysis.  Signs are progressive, there is no treatment, and affected dogs are eventually euthanized for humanitarian reasons.

 

References:

OMIA link: [1505-9615]

Cerda-Gonzalez S, Packer RA, Garosi L, et al. (2021) International veterinary canine dyskinesia task force ECVN consensus statement: Terminology and classification. J Vet Intern Med 35:1218-1230 [pubmed/33769611]

Story BD, Miller ME, Bradbury AM, et al. (2020) Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci 7:80. [pubmed/32219101]

Awano T, Katz ML, O’Brien DP, et al. (2006) A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis. Mol Genet Metab. 87(4):341-8. [pubmed/16386934]

Evans J, Katz ML, Levesque D, et al. (2005) A variant form of neuronal ceroid lipofuscinosis in American bulldogs. J Vet Intern Med. 19(1):44-51. [pubmed/15715047]