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CNS atrophy and cerebellar ataxia (CACA) is part of a heterogeneous group of neurological disorders with dysfunction of the cerebellum.
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Specifiche
Breeds | |
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Gene | |
Organ | |
specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
Mode of Inheritance | |
Chromosome | |
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Informazioni generali
CNS atrophy and cerebellar ataxia (CACA) is part of a heterogeneous group of neurological disorders with dysfunction of the cerebellum. Affected dogs develop uncoordinated movements and tremor at two weeks of age and might need to be euthanized on humane grounds. CACA is found in a family of Belgian Malinois (or Belgian Shepherd dogs) and is caused by an autosomal recessive deletion of the SELENOP gene (a.k.a. SEPP1), which is associated with a defect in selenium transport.
Caratteristiche cliniche
CACA is characterized by irregular and clumsy movements, decreased coordination, tremors, wide-based stance and dysarthria. The severity of clinical signs can be highly variable.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 34339417
Omia ID: 2367