title: Early onset hereditary spinocerebellar ataxia: an autosomal recessive disorder distinct from Friedreich's ataxia.
abstract: The important clinical features of seven patients with an early onset slowly progressive heredofamilial spinocerebellar degenerative disorder of probably autosomal recessive inheritance included limb ataxia, retained and/or exaggerated tendon reflexes (biceps and knee), pyramidal weakness of lower limbs and normal sensory action potentials. This rare disorder is probably distinct from Friedreich's ataxia and carries a better prognosis.
authors.forename: D
authors.initials: D
authors.lastname: Kumar
authors.forename: C E
authors.initials: CE
authors.lastname: Blank
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D005621:Friedreich Ataxia / Q000175:diagnosis*; D006801:Humans; D008297:Male; D013132:Spinocerebellar Degenerations / Q000175:diagnosis* / Q000235:genetics