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.
(c) 2006 Movement Disorder Society.
MeSH terms
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Adenosine Deaminase / genetics*
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Adult
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Aortic Valve Stenosis / diagnosis
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Aortic Valve Stenosis / genetics
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Brain / pathology
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Calcinosis / diagnosis
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Calcinosis / genetics*
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Calcium / metabolism
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DNA Mutational Analysis*
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Dystonia Musculorum Deformans / diagnosis
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Dystonia Musculorum Deformans / genetics*
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Female
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Genetic Carrier Screening
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Humans
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Intellectual Disability / diagnosis
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Intellectual Disability / genetics*
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Magnetic Resonance Imaging
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Male
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Neurons / metabolism
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Nucleotide Mapping
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Pigmentation Disorders / diagnosis
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Pigmentation Disorders / genetics*
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RNA Editing / genetics
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RNA-Binding Proteins
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Receptors, Glutamate / genetics
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Tomography, X-Ray Computed
Substances
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RNA-Binding Proteins
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Receptors, Glutamate
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ADARB1 protein, human
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Adenosine Deaminase
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Calcium