MeSH Browser

MeSH Supplementary: Episodic Ataxia, Type 2
Unique ID: C535506
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535506
Entry Term(s): Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia; Acetazolamide-responsive episodic ataxia syndrome; Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia; Ataxia, Episodic, With Nystagmus; Ataxia, Familial Paroxysmal; Ataxia, familial, paroxysmal; Cerebellar ataxia, paroxysmal, Acetazolamide-responsive; Cerebellopathy, hereditary paroxysmal; Episodic Ataxia, Nystagmus-Associated; Episodic ataxia type 2; Episodic ataxia with nystagmus; Nystagmus-associated episodic ataxia
Registry Number: 0
Heading Mapped to: *Ataxia; *Nystagmus, Pathologic
Frequency: 42
Note: The most common form of episodic ataxia, a genetically heterogeneous condition characterized by episodes of incoordiantion and imbalance similar to progressive ataxia. Episodic ataxia 2 exhibits autosomal dominant inheritance and is further characterized by onset in childhood or adolescence and the occurence of nystagmus, TINNITUS; MIGRAINE HEADACHE, and other neurologic symptoms. Episodes are often triggered by sudden movements, fatigue, stress, stimulant or alcohol use and may be treated by ACETAZOLAMIDE. Mutations in the CACNA1A gene have been identified. OMIM: 108500
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Episodic Ataxia, Type 2 MeSH Supplementary Concept Data 2024