Familial paroxysmal ataxia: report of a family.
Three cases from one kindred who suffer from dominant paroxysmal ataxia are described. This is a rare benign non-progressive disorder of childhood onset, characterised by bouts of ataxia with abrupt onset lasting minutes or hours. Cases may be identified on the basis of a suggestive history, nystagmus persisting between episodes, and dominant inheritance. Treatment with acetazolamide is often dramatically effective. This family is thought to be the first described in the UK but many more probably exist, mislabelled as epilepsy or migraine.
Hawkes
C H
CH
Ipswich Hospital, Neurological Centre, Suffolk.
D000086:Acetazolamide / Q000627:therapeutic use; D000328:Adult; D001284:Atrophy; D002531:Cerebellum / Q000473:pathology; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009460:Neurologic Examination; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*
D000086:Acetazolamide