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H411

Cerebellar Ataxia (CA) is a rare disorder characterised by progressive cerebellar neurodegeneration.

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Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

General information

Cerebellar Ataxia (CA) is a rare disorder characterised by progressive cerebellar neurodegeneration. CA is characterised by degeneration of the cerebellar structures, which results in progressive motor incoordination. This variant of the disorder, found in the Finnish Hound, is also known as Finnish Hound Ataxia (FHA). It is caused by a recessive mutation to the gene SEL1L.

Clinical features

Affected dogs have an uncoordinated gait (ataxia). Ataxia is a neurological symptom of defective motor coordination that can affect gait, balance, speech and gaze.

Additional information

References

Pubmed ID: 22719266

Omia ID: 1692

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