Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation.
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.
Tojo
Kana
K
Department of Neurology, Shinshu University School of Medicine, Matsumoto, Japan.
Sekijima
Yoshiki
Y
Suzuki
Tamio
T
Suzuki
Noriyuki
N
Tomita
Yasushi
Y
Yoshida
Kunihiro
K
Hashimoto
Takao
T
Ikeda
Shu-Ichi
S
D000243:Adenosine Deaminase / Q000235:genetics*; D000328:Adult; D001024:Aortic Valve Stenosis / Q000175:diagnosis / Q000235:genetics; D001921:Brain / Q000473:pathology; D002114:Calcinosis / Q000175:diagnosis / Q000235:genetics*; D002118:Calcium / Q000378:metabolism; D004252:DNA Mutational Analysis; D004422:Dystonia Musculorum Deformans / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D009474:Neurons / Q000378:metabolism; D009710:Nucleotide Mapping; D010859:Pigmentation Disorders / Q000175:diagnosis / Q000235:genetics*; D017393:RNA Editing / Q000235:genetics; D016601:RNA-Binding Proteins; D017470:Receptors, Glutamate / Q000235:genetics; D014057:Tomography, X-Ray Computed
D016601:RNA-Binding Proteins; D017470:Receptors, Glutamate; C567955:ADARB1 protein, human; D000243:Adenosine Deaminase; D002118:Calcium