autosomal recessive spinocerebellar ataxia 4

Term ID

DOID:0111611

Synonyms

• autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
• SCA24
• SCAR4
• SCASI
• spinocerebellar ataxia 24
• spinocerebellar ataxia with saccadic intrusions

Definition

An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13D gene on chromosome 1p36.22-p36.21. https://www.ncbi.nlm.nih.gov/pubmed/29604224

References

• GARD:4952
• MESH:C537310
• MIM:607317
• ORDO:95434
• UMLS_CUI:C1846492

Ontology

Human Disease   ( DOID:0111611 )