一个非洲大家庭中因CACNA1S基因R1239H突变导致的低钾性周期性麻痹
Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family.
作者信息
Houinato Dismand, Laleye Anatole, Adjien Constant, Adjagba Marius, Sternberg Damien, Hilbert Pascale, Vallat Jean-Michel, Darboux Raphaël Barthélémy, Funalot Benoît, Avode Dossou Gilbert
机构信息
UFR de Neurologie, Faculté des Sciences de la Santé, Cotonou, Benin.
出版信息
Neuromuscul Disord. 2007 May;17(5):419-22. doi: 10.1016/j.nmd.2007.01.020. Epub 2007 Apr 5.
Hypokalaemic periodic paralysis (HypoKPP) is a skeletal muscle channelopathy caused by mutations in calcium (CACNA1S) and sodium (SCN4A) channel subunits. A small number of causative mutations have been found in European and Asian patients, but not in African patients yet. We have identified a large Beninese family in which HypoKPP segregated over five generations and was caused by the CACNA1S R1239H mutation. We report on the clinical and histopathological spectrum of the disorder in this family. A later age at onset (15.8+/-8.8years), and particular triggering factors due to specific African life conditions seem to be characteristic of our observation.
低钾性周期性麻痹（HypoKPP）是一种由钙（CACNA1S）和钠（SCN4A）通道亚基突变引起的骨骼肌离子通道病。在欧洲和亚洲患者中已发现少数致病突变，但在非洲患者中尚未发现。我们在一个贝宁大家族中发现低钾性周期性麻痹在五代人中呈分离状态，且由CACNA1S基因的R1239H突变引起。我们报告了该家族中这种疾病的临床和组织病理学特征。发病年龄较晚（15.8±8.8岁），以及特定非洲生活条件导致的特殊触发因素似乎是我们观察到的特征。
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