Medline ® Abstract for Reference 103
of 'Classification and evaluation of dystonia'
103
TI
Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia.
AU
Spacey SD, Adams PJ, Lam PC, Materek LA, Stoessl AJ, Snutch TP, Hsiung GY
SO
Neurology. 2006;66(10):1588.
Paroxysmal 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.
AD
Division of Neurology, University of British Columbia, Vancouver, BC, Canada. spacey@interchange.ubc.ca
PMID