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Hereditary cerebellar ataxia is characterised by incoordination of movement which is typically incurable.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
General information
Hereditary cerebellar ataxia is characterised by incoordination of movement which is typically incurable. This hereditary ataxia is caused by a variant in the KCNIP4 gene which leads to the dysfunction of the cerebellum or its pathways.
Clinical features
The incoordination usually occurs in the limbs, gait or eyes, due to the dysfunction of the cerebellum.
Additional information
References
Pubmed ID: 31999692
Omia ID: 2240
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