autosomal recessive spinocerebellar ataxia 8

Term ID

DOID:0111618

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. (2)

References

• GARD:12234
• MESH:C565188
• OMIM:610743
• ORDO:88644
• UMLS_CUI:C1853116

Ontology

Human Disease   ( DOID:0111618 )