Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation.
Identifieur interne : 001761 ( Ncbi/Curation ); précédent : 001760; suivant : 001762Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation.
Auteurs : Kana Tojo [Japon] ; Yoshiki Sekijima ; Tamio Suzuki ; Noriyuki Suzuki ; Yasushi Tomita ; Kunihiro Yoshida ; Takao Hashimoto ; Shu-Ichi IkedaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.
English descriptors
- KwdEn :
- Adenosine Deaminase (genetics), Adult, Aortic Valve Stenosis (diagnosis), Aortic Valve Stenosis (genetics), Brain (pathology), Calcinosis (diagnosis), Calcinosis (genetics), Calcium (metabolism), DNA Mutational Analysis, Dystonia Musculorum Deformans (diagnosis), Dystonia Musculorum Deformans (genetics), Female, Heterozygote Detection, Humans, Intellectual Disability (diagnosis), Intellectual Disability (genetics), Magnetic Resonance Imaging, Male, Neurons (metabolism), Nucleotide Mapping, Pigmentation Disorders (diagnosis), Pigmentation Disorders (genetics), RNA Editing (genetics), RNA-Binding Proteins, Receptors, Glutamate (genetics), Tomography, X-Ray Computed.
- MESH :
- chemical , genetics : Adenosine Deaminase, Receptors, Glutamate.
- diagnosis : Aortic Valve Stenosis, Calcinosis, Dystonia Musculorum Deformans, Intellectual Disability, Pigmentation Disorders.
- genetics : Aortic Valve Stenosis, Calcinosis, Dystonia Musculorum Deformans, Intellectual Disability, Pigmentation Disorders, RNA Editing.
- chemical , metabolism : Calcium, Neurons.
- pathology : Brain.
- Adult, DNA Mutational Analysis, Female, Heterozygote Detection, Humans, Magnetic Resonance Imaging, Male, Nucleotide Mapping, RNA-Binding Proteins, Tomography, X-Ray Computed.
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.
DOI: 10.1002/mds.21011
PubMed: 16817193
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uniqKey="Suzuki N" first="Noriyuki" last="Suzuki">Noriyuki Suzuki</name></author><author><name sortKey="Tomita, Yasushi" sort="Tomita, Yasushi" uniqKey="Tomita Y" first="Yasushi" last="Tomita">Yasushi Tomita</name></author><author><name sortKey="Yoshida, Kunihiro" sort="Yoshida, Kunihiro" uniqKey="Yoshida K" first="Kunihiro" last="Yoshida">Kunihiro Yoshida</name></author><author><name sortKey="Hashimoto, Takao" sort="Hashimoto, Takao" uniqKey="Hashimoto T" first="Takao" last="Hashimoto">Takao Hashimoto</name></author><author><name sortKey="Ikeda, Shu Ichi" sort="Ikeda, Shu Ichi" uniqKey="Ikeda S" first="Shu-Ichi" last="Ikeda">Shu-Ichi Ikeda</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2006">2006</date><idno type="doi">10.1002/mds.21011</idno><idno type="RBID">pubmed:16817193</idno><idno type="pmid">16817193</idno><idno type="wicri:Area/PubMed/Corpus">002B76</idno><idno type="wicri:Area/PubMed/Curation">002B76</idno><idno 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sort="Suzuki, Tamio" uniqKey="Suzuki T" first="Tamio" last="Suzuki">Tamio Suzuki</name></author><author><name sortKey="Suzuki, Noriyuki" sort="Suzuki, Noriyuki" uniqKey="Suzuki N" first="Noriyuki" last="Suzuki">Noriyuki Suzuki</name></author><author><name sortKey="Tomita, Yasushi" sort="Tomita, Yasushi" uniqKey="Tomita Y" first="Yasushi" last="Tomita">Yasushi Tomita</name></author><author><name sortKey="Yoshida, Kunihiro" sort="Yoshida, Kunihiro" uniqKey="Yoshida K" first="Kunihiro" last="Yoshida">Kunihiro Yoshida</name></author><author><name sortKey="Hashimoto, Takao" sort="Hashimoto, Takao" uniqKey="Hashimoto T" first="Takao" last="Hashimoto">Takao Hashimoto</name></author><author><name sortKey="Ikeda, Shu Ichi" sort="Ikeda, Shu Ichi" uniqKey="Ikeda S" first="Shu-Ichi" last="Ikeda">Shu-Ichi Ikeda</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2006" type="published">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adenosine Deaminase (genetics)</term><term>Adult</term><term>Aortic Valve Stenosis (diagnosis)</term><term>Aortic Valve Stenosis (genetics)</term><term>Brain (pathology)</term><term>Calcinosis (diagnosis)</term><term>Calcinosis (genetics)</term><term>Calcium (metabolism)</term><term>DNA Mutational Analysis</term><term>Dystonia Musculorum Deformans (diagnosis)</term><term>Dystonia Musculorum Deformans (genetics)</term><term>Female</term><term>Heterozygote Detection</term><term>Humans</term><term>Intellectual Disability (diagnosis)</term><term>Intellectual Disability (genetics)</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Neurons (metabolism)</term><term>Nucleotide Mapping</term><term>Pigmentation Disorders (diagnosis)</term><term>Pigmentation Disorders (genetics)</term><term>RNA Editing (genetics)</term><term>RNA-Binding Proteins</term><term>Receptors, Glutamate (genetics)</term><term>Tomography, X-Ray Computed</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Adenosine Deaminase</term><term>Receptors, Glutamate</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Aortic Valve Stenosis</term><term>Calcinosis</term><term>Dystonia Musculorum Deformans</term><term>Intellectual Disability</term><term>Pigmentation Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Aortic Valve Stenosis</term><term>Calcinosis</term><term>Dystonia Musculorum Deformans</term><term>Intellectual Disability</term><term>Pigmentation Disorders</term><term>RNA Editing</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Calcium</term><term>Neurons</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>DNA Mutational Analysis</term><term>Female</term><term>Heterozygote Detection</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Nucleotide Mapping</term><term>RNA-Binding Proteins</term><term>Tomography, X-Ray Computed</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml: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 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.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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