Movement Disorders (revue)

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

Identifieur interne : 002F65 ( Istex/Corpus ); précédent : 002F64; suivant : 002F66

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

Auteurs : Kana Tojo ; Yoshiki Sekijima ; Tamio Suzuki ; Noriyuki Suzuki ; Yasushi Tomita ; Kunihiro Yoshida ; Takao Hashimoto ; Shu-Ichi Ikeda

Source :

RBID : ISTEX:D6C2C3FD86B3724F89BC288FC56469A3799A15BD

English descriptors

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 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. © 2006 Movement Disorder Society

Url:
DOI: 10.1002/mds.21011

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ISTEX:D6C2C3FD86B3724F89BC288FC56469A3799A15BD

Le document en format XML

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<abstract lang="en">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. © 2006 Movement Disorder Society</abstract>
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