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Breeds
Relevance Rating: Unknown, not evaluated or no evidence for test for these breeds
GTPs
General
Disease Name
Cerebellar Ataxia
Mutation
c.1972T>C
Test Type
Genetic Disease/Disorder
Details
This form of ataxia is characterised by being an early-onset, progressive disease resulting in a lack of coordination, difficulty balancing and walking, and tremor. Clinical signs were present by the age of 3 months, and cerebellar shrinkage was detectable through MRI. Progression is fast, with some dogs being euthanized before 6 months of age.
Details 2
Inherited ataxias are characterized by degeneration of the cerebellar structures, which results in progressive motor incoordination... The Finnish Hound suffers from an early-onset progressive cerebellar ataxia... Neurological examinations on ten affected dogs revealed rapidly progressing generalized cerebellar ataxia, tremors, and failure to thrive. Clinical signs were present by the age of 3 months, and cerebellar shrinkage was detectable through MRI. Pathological and histological examinations indicated cerebellum-restricted neurodegeneration. (Kyostila et al, 2012)
Published
Kyostila, K., Cizinauskas, S., Seppala, E.H., Suhonen, E., Jeserevics, J., Sukura, A., Syrja, P., Lohi, H. : A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum-Associated Protein Degradation (ERAD) Machinery. PLoS Genet 8:e1002759, 2012. Pubmed reference: 22719266. DOI: 10.1371/journal.pgen.1002759.
