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Cerebellar Ataxia

Breeds

Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds

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.
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