Abstract | BACKGROUND: OBJECTIVE: To investigate the involvement of the CACNA1A calcium channel subunit gene in SHM. METHODS: We screened 27 patients with SHM for mutations in the CACNA1A gene by a combination of single-strand conformational polymorphism analysis and sequence analysis. RESULTS: One patient with SHM also had ataxia, nystagmus, and cerebellar atrophy on computed tomography and carried a T666M mutation. Another patient with SHM who had no cerebellar signs carried an R583Q mutation. No mutations or interictal neurological abnormalities were found in the remaining 25 patients with SHM. CONCLUSIONS: Most patients with SHM do not have a CACNA1A mutation. The results of this study, combined with the findings reported in the literature, show that the presence of cerebellar symptoms in addition to the hemiplegic attacks increases the chance of finding a CACNA1A mutation. In addition, to our knowledge, we have found a first patient with SHM without cerebellar signs with a mutation.
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Authors | Gisela Terwindt, Esther Kors, Joost Haan, Frans Vermeulen, Arn Van den Maagdenberg, Rune Frants, Michel Ferrari |
Journal | Archives of neurology
(Arch Neurol)
Vol. 59
Issue 6
Pg. 1016-8
(Jun 2002)
ISSN: 0003-9942 [Print] United States |
PMID | 12056940
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
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Chemical References |
- CACNA1A protein, human
- Calcium Channels
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Topics |
- Adolescent
- Adult
- Aged
- Calcium Channels
(genetics)
- Cerebellar Ataxia
(genetics, physiopathology)
- Child
- DNA Mutational Analysis
(methods, statistics & numerical data)
- Female
- Humans
- Male
- Middle Aged
- Migraine with Aura
(genetics, physiopathology)
- Mutation
(genetics)
- Polymorphism, Single-Stranded Conformational
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