Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23

被引:59
作者
Marconi, R
De Fusco, M
Aridon, P
Plewnia, K
Rossi, M
Carapelli, S
Ballabio, A
Morgante, L
Musolino, R
Epifanio, A
Micieli, G
De Michele, G
Casari, G
机构
[1] Dibit San Raffaele Sci Inst, Dept Neurosci, Human Mol Genet Unit, I-20132 Milan, Italy
[2] Misercordia Hosp, Dept Neurol, Grosseto, Italy
[3] Univ Palermo, Inst Neuropsychiat, Palermo, Italy
[4] Telethon Inst Genet & Med TIGEM, Naples, Italy
[5] Univ Naples 2, Fac Med, Naples, Italy
[6] Univ Messina, Dept Neurosci, Messina, Italy
[7] C Mondino Inst, Dept Neurol, Pavia, Italy
[8] Univ Naples 2, Dept Neurol, Naples, Italy
关键词
D O I
10.1002/ana.10464
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Familial hemiplegic migraine (FHM) is a rare autosomal dominant disorder characterized by episodes of transient hemiparesis followed by headache. Two chromosomal loci are associated to FHM: FHM1 on chromosome 19 and FHM2 on chromosome 1q21-23. Mutations of the alpha-1A subunit of the voltage gated calcium channel (CACNA1A) are responsible for FHM1. FHM2 critical region spans 28cM, hence hampering the identification of the responsible gene. Here, we report the FHM2 locus refining by linkage analysis on two large Italian families affected by pure FHM. The new critical region covers a small area of 0.9Mb in 1q23 and renders feasible a positional candidate approach. By mutation analysis, we excluded the calsequestrin and two potassium channel genes mapping within the narrowed FHM2 locus.
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页码:376 / 381
页数:6
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