Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A.
Neurology
; 65(6): 944-6, 2005 Sep 27.
Article
in En
| MEDLINE
| ID: mdl-16186543
ABSTRACT
Episodic ataxia type 2 (EA2) is caused by calcium channel (CACNA1A) mutations and typically begins before age 20 years. The molecular basis of late-onset EA2 is unclear. The authors describe a case of late-onset EA2 associated with the first multiple-base pair insertion in CACNA1A. Molecular expression revealed evidence of impaired calcium channel function, suggesting that genetically induced reduction in calcium channel function may associate with cases of late-onset EA2.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Calcium Channels
/
Spinocerebellar Degenerations
/
Point Mutation
/
Genetic Predisposition to Disease
Limits:
Adult
/
Aged
/
Animals
/
Humans
/
Male
Language:
En
Journal:
Neurology
Year:
2005
Document type:
Article