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

Mov Disord. 2006 Sep;21(9):1510-3. doi: 10.1002/mds.21011.

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.

Publication types

  • Case Reports

MeSH terms

  • 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
  • Genetic Carrier Screening
  • 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

Substances

  • RNA-Binding Proteins
  • Receptors, Glutamate
  • ADARB1 protein, human
  • Adenosine Deaminase
  • Calcium