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家族性偏瘫性偏头痛基因定位于19号染色体。

A gene for familial hemiplegic migraine maps to chromosome 19.

作者信息

Joutel A, Bousser M G, Biousse V, Labauge P, Chabriat H, Nibbio A, Maciazek J, Meyer B, Bach M A, Weissenbach J

机构信息

Laboratoire de Pathologie de l'Immunité, Faculté de Médecine Necker, Paris, France.

出版信息

Nat Genet. 1993 Sep;5(1):40-5. doi: 10.1038/ng0993-40.

Abstract

Familial hemiplegic migraine is an autosomal dominant disorder of unknown pathogenesis in which the migrainous attacks are marked by the occurrence of a transient hemiplegia during the aura. While investigating CADASIL, mapped previously to chromosome 19, we observed that some patients had recurrent attacks of migraine with aura. Although the clinical and neuroimaging features of familial hemiplegic migraine differ markedly from CADASIL, we hypothesized that the same gene could be involved in the pathogenesis of both conditions. We chose two large pedigrees for linkage analysis of familial hemiplegic migraine. A maximum lod score > 8 was found with two markers that are also strongly linked to CADASIL. Multilocus linkage analysis suggested that the loci responsible for the two diseases reside within an interval of about 30 cM on chromosome 19.

摘要

家族性偏瘫性偏头痛是一种常染色体显性疾病,其发病机制不明,偏头痛发作的特点是在先兆期出现短暂性偏瘫。在对先前定位于19号染色体的伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(CADASIL)进行研究时,我们观察到一些患者有反复发作的伴先兆偏头痛。尽管家族性偏瘫性偏头痛的临床和神经影像学特征与CADASIL明显不同,但我们推测这两种疾病的发病机制可能涉及相同的基因。我们选择了两个大家系进行家族性偏瘫性偏头痛的连锁分析。在与CADASIL也有强连锁关系的两个标记物上发现最大对数优势分数>8。多位点连锁分析表明,这两种疾病的致病基因座位于19号染色体上约30厘摩的区间内。

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