| Autor: |
Robbins MS; The Montefiore Headache Center, Saul R. Korey Department of Neurology, Albert Einstein College of Medicine, 1575 Blondell Avenue, Suite 225, Bronx, NY 10461, USA., Lipton RB, Laureta EC, Grosberg BM |
| Jazyk: |
angličtina |
| Zdroj: |
Headache [Headache] 2009 Jul; Vol. 49 (7), pp. 1042-6. Date of Electronic Publication: 2009 May 27. |
| DOI: |
10.1111/j.1526-4610.2009.01464.x |
| Abstrakt: |
Mutations in the CACNA1A gene on chromosome 19 have been associated with a variety of clinical disorders, including familial hemiplegic migraine type 1 and episodic ataxia type 2 (EA2). We report a patient with 2 distinct attack types, one representing EA2 and the other, basilar-type migraine. Genetic testing revealed a novel nonsense mutation in the CACNA1A gene at codon position 583. Treatment with acetazolamide relieved both types of attacks. We hypothesize that the CACNA1A gene mutation may contribute to both typical EA2 and typical basilar-type migraine, extending the spectrum of clinical manifestations associated with CACNA1A mutations. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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