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Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation
Author(s) -
Tojo Kana,
Sekijima Yoshiki,
Suzuki Tamio,
Suzuki Noriyuki,
Tomita Yasushi,
Yoshida Kunihiro,
Hashimoto Takao,
Ikeda Shuichi
Publication year - 2006
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.21011
Subject(s) - dystonia , mutation , proband , adenosine deaminase , genetics , medicine , biology , gene , endocrinology , psychiatry , adenosine
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