spinocerebellar ataxia, autosomal recessive 4 (SCAR4, SCASI)

Genetics

• chromosome 1p36

Clinical manifestations

• features of spinocerebellar ataxia
• progressive ataxia beginning in the 3rd decade with gait unsteadiness & difficulty reading
• eventually gait ataxia, trunk ataxia, & limb ataxia
• pyramidal tract signs
• hyperreflexia, extensor plantar responses
• myoclonic jerks, fasciculations
• cerebellar dysarthria
• mild pes cavus
• disturbance of eye movements
  • horizontal macrosaccadic oscillations of a high velocity induced with each gaze shift
• all sensory modalities, including vibration, joint position, pain & temperatyre sensation impaired over the feet & calves

More general terms

• spinocerebellar ataxia, autosomal recessive

Database

• OMIM: https://mirror.omim.org/entry/607317
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=260415