Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia
2006; Lippincott Williams & Wilkins; Volume: 66; Issue: 10 Linguagem: Inglês
10.1212/01.wnl.0000217332.51740.7c
ISSN1526-632X
AutoresSian Spacey, Paul J. Adams, Pauline Lam, Luke A. Materek, A. Jon Stoessl, T P Snutch, Ging‐Yuek Robin Hsiung,
Tópico(s)Neurological disorders and treatments
ResumoParoxysmal nonkinesigenic dyskinesia (PNKD) is characterized by attacks of dystonia or chorea lasting minutes to hours. Recently, mutations in the myofibrillogenesis regulator 1 gene ( MR-1 ) have been identified in 10 unrelated PNKD kindreds. The authors describe a Canadian PNKD family who does not have mutations in the MR-1 gene and links to a separate locus at 2q31. This indicates that there are at least two different genes responsible for PNKD.
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