title: Familial episodic ataxia type II.
abstract: The familial episodic ataxia type II is a rare, dominantly inherited disease characterized by episodes of ataxia of early onset, often with completely normal cerebellar function between attacks. We report a family with affected members who had features of episodic ataxia type II and cerebellar atrophy on MRI imaging. All the affected members were successfully treated with acetazolamide, a carbonic anhydrase inhibitor. They are asymptomatic at 2 year follow-up.
authors.affiliation: Dept of Neurology, Govt. Mohan Kumaramangalam Medical College Hospital, Salem, Tamil Nadu.
authors.forename: K
authors.initials: K
authors.lastname: Mugundhan
authors.forename: K
authors.initials: K
authors.lastname: Thiruvarutchelvan
authors.forename: S
authors.initials: S
authors.lastname: Sivakumar
mesh_terms: D000086:Acetazolamide / Q000627:therapeutic use*; D000293:Adolescent; D000328:Adult; D000368:Aged; D001259:Ataxia / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics; D002257:Carbonic Anhydrase Inhibitors / Q000627:therapeutic use*; D005500:Follow-Up Studies; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009759:Nystagmus, Pathologic / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics; D010375:Pedigree; D055815:Young Adult
chemical_list: D002257:Carbonic Anhydrase Inhibitors; D000086:Acetazolamide