期刊
NEUROGENETICS
卷 10, 期 3, 页码 191-198出版社
SPRINGER
DOI: 10.1007/s10048-008-0169-6
关键词
Migraine; Linkage; Genetics; Familial hemiplegic migraine
资金
- Ministerio de Educacion y Ciencia [SAF 2003/04704, SAF200613893-C02-01]
- Fundacio La Marato de TV3 [061330, AGAUR 2005SGR00848]
- Ministerio de Educacion y Ciencia
- R. C. by Institut de Recerca Vall d'Hebron, Spain
We sought to map the disease-causing gene in a large Spanish kindred with familial hemiplegic migraine (FHM). Patients were classified according to the ICHD-II criteria. After ruling out linkage to known migraine genetic loci, a single nucleotide polymorphism-based, 0.62-cM density genome-wide scan was performed. Among 13 affected subjects, FHM was the prevailing migraine phenotype in six, migraine with aura in four and migraine without aura in three. Linkage analysis revealed a disease locus in a 4.15-Mb region on 14q32 with a maximum two-point logarithm of odds (LOD) score of 3.1 and a multipoint parametric LOD score of 3.8. This genomic region does not overlap with the reported migraine loci on 14q21-22. Sequence analysis of three candidate genes in the region, SLC24A4, ATXN3 and ITPK1, failed to show disease-causing mutations in our patients. Genetic heterogeneity in FHM may be greater than previously suspected.
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