Term Name: | autosomal recessive spinocerebellar ataxia 8 |
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Synonyms: | ARCA1, autosomal recessive ataxia, Beauce type, Autosomal recessive cerebellar ataxia type 1, recessive ataxia of Beauce, SCAR8, SYNE1-related autosomal recessive cerebellar ataxia |
Definition: | An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2. |
Ontology: | Human Disease [DOID:0111618] ( DOID:0111618 ) |