Phenotypic overlap among paroxysmal dyskinesia subtypes: Lesson from a family with PRRT2 gene mutation.

Paroxysmal dyskinesia (PD) is a group of rare neurological conditions which was divided into paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD) and paroxysmal exercise-induced dyskinesia (PED) according to their clinical features. PRRT2 gene was initially identified as the major gene responsible for PKD followed by presence of various PRRT2 mutations discovered in families with benign familial infantile convulsions (BFIC) and infantile convulsions and choreoathetosis (ICCA). We describe a family with characteristic PD showing overlaps in clinical pictures among the three PD subgroups, and a nonsense PRRT2 mutation c.649C>T (p.Arg217X) was also detected. This broadens the phenotypic spectrum in PRRT2-related disorders. In addition, an unusual exercise trigger observed in the proband, likely representing an underestimated occurrence, together with the current clinical PD classification is also elucidated.
AuthorsKang Wang, Xiaoyu Zhao, Yue Du, Fangping He, Guoping Peng, Benyan Luo
JournalBrain & development (Brain Dev) Vol. 35 Issue 7 Pg. 664-6 (Aug 2013) ISSN: 1872-7131 [Electronic] Netherlands
PMID22902309 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
CopyrightCopyright © 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
Chemical References
  • Codon, Nonsense
  • Membrane Proteins
  • Nerve Tissue Proteins
  • PRRT2 protein, human
  • Adolescent
  • Adult
  • Base Sequence
  • Chorea (genetics, physiopathology)
  • Codon, Nonsense
  • DNA Mutational Analysis
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Male
  • Membrane Proteins (genetics)
  • Nerve Tissue Proteins (genetics)
  • Pedigree
  • Phenotype

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