Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation
Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation
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一个 ADAR1 基因突变家族中的肌张力障碍、智力退化和对称性遗传色素沉着症
DOI：
10.1002/mds.21011
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发表时间：
2006-09-01
影响因子：
8.6
通讯作者：
Ikeda, Shu-ichi
中科院分区：
文献类型：
--
作者：
Tojo, Kana;Sekijima, Yoshiki;Ikeda, Shu-ichi
一个家族与肌张力障碍相关的遗传性色素异常症（DSH），精神恶化，组织钙化。先证者具有作用于RNA 1基因的腺苷脱氨酶（ADAR 1）突变Gly 1007 Arg。这种ADAR 1突变可能会干扰大脑中谷氨酸受体Q/R位点的RNA编辑，增加神经元中的Ca 2+内流，这被认为会引起肌张力障碍和智力退化。我们家族的观察结果提出了ADAR 1突变可能是遗传性退行性肌张力障碍的直接原因或诱发因素的可能性。ADAR 1突变的进一步研究将揭示DSH的基因型-表型相关性。(c)2006年，《社会运动》创刊。
A family with dystonia associated with dyschromatosis symmetrica hereditaria (DSH), mental deterioration, and tissue calcification is described. The proband possessed an adenosine deaminase acting on the RNA 1 gene (ADAR1) mutation Gly1007Arg. This ADAR1 mutation could disturb RNA editing at Q/R sites of glutamate receptor in the brain and increase Ca2+ influx into neurons, which is thought to induce dystonia and mental deterioration. The observations in our family raise the possibility that the ADAR1 mutation might be a direct cause or a predisposing factor for heredodegenerative dystonia. Further investigation of ADAR1 mutations will shed light on the genotype-phenotype correlation in DSH. (c) 2006 Movement Disorder Society.