Familial episodic ataxia type Ii
Mugundhan, K.; Thiruvarutchelvan, K.; Sivakumar, S.
Journal of the Association of Physicians of India 59: 668-670
2011
ISSN/ISBN: 0004-5772 PMID: 22479753 Document Number: 650926
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.