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Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation

✍ Scribed by Kana Tojo; Yoshiki Sekijima; Tamio Suzuki; Noriyuki Suzuki; Yasushi Tomita; Kunihiro Yoshida; Takao Hashimoto; Shu-ichi Ikeda

Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 112 KB
Volume: 21
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.21011

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✦ Synopsis

Abstract

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 Ca^2+^ 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. © 2006 Movement Disorder Society

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