Neuronal Ceroid Lipofuscinosis 2, NCL2

 

Gene: TPP1

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: Deletion, TPP1 gene; c.325 del.C, p.(R108G fs STOP 6), exon4

Medical systems: Neurologic, lysosomal storage disease

Breed: Dachshund Miniature Longhair/Shorthair, Dachshund Miniature Wirehair, Dachshund Standard Longhair/Shorthair, Dachshund Standard Wirehair

Age of onset of symptoms: Around the age of 9 months

Neuronal Ceroid Lipofuscinosis 2 is a genetic disease caused by a lack of enzymes and an abnormal accumulation of certain proteins in the cells. The neural system is particularly affected. Clinical signs appear at 9 months and include intellectual degeneration with loss of learned behavior, ataxia with tremors, blindness and seizures. There is a rapid progression of symptoms followed by the death of the affected animal by about one year of age.

 

References:

OMIA link: [1472-9615]

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]

Whiting RE, Pearce JW, Castaner LJ, et al. (2015) Multifocal retinopathy in Dachshunds with CLN2 neuronal ceroid lipofuscinosis. Exp Eye Res. 134:123-32. [pubmed/25697710]

Katz ML, Coates JR, Cooper JJ, et al. (2008) Retinal pathology in a canine model of late infantile neuronal ceroid lipofuscinosis. Invest Ophthalmol Vis Sci. 49(6):2686-95. [pubmed/18344450]

Awano T, Katz ML, O’Brien DP, et al. (2006) A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis. Molecular Genetics and Metabolism 89:254-260. [pubmed/16621647]