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Ataxia, Spinocerebellar, SPTBN2-related

Breeds

Relevance Rating: There is moderate evidence or research available in this breed

General

Disease Name
Ataxia, Spinocerebellar, SPTBN2-related
Mutation
p.G1952insRDRGQGRPLLLMHRHGAGAA
Test Type
Genetic Disease/Disorder
Details
Ataxia seems to come in breed-related, or breed-specific types. It is characterized by uncoordinated movements, and can have a range of other movement-related symptoms. Signs include a tendency to lean and fall towards both sides, inability to walk without assistance, and "hopping". Age of onset reported at approximately 4 weeks.
Details 2
A (single) four- week- old male beagle puppy with a ten-day history of severe cerebellar ataxia was investigated. "The dog was the only affected one from a litter of seven puppies. The breeder noticed that the affected puppy was not able to ambulate normally from the onset of walking and the clinical signs had remained stable since then. The puppy was otherwise eating and drinking well and there were no signs of systemic illness in the littermates, in the dam (also during gestation) or in the sire. Physical examination did not reveal any gross abnormalities apart from the neurological signs. Neurological examination revealed severe cerebellar ataxia, with tendency to lean and fall towards both sides, resulting in inability to walk without assistance. Proprioceptive positioning was normal while hopping reactions were abnormal with delayed onset of protraction and exaggerated response, once initiated. Spinal reflexes were normal in all four limbs. Cranial nerve examination revealed an absent menace response bilaterally with normal vision. Occasionally when the head was positioned in extension spontaneous rotatory nystagmus was observed. A lesion involving mainly the cerebellum and spinocerebellar tracts was suspected." (Forman et al. 2012)
Published
Forman, O.P., De Risio, L., Stewart, J., Mellersh, C.S., Beltran, E. : Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation. BMC Genet 13:55, 2012. Pubmed reference: 22781464. DOI: 10.1186/1471-2156-13-55.
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