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NEUROLOGY 2006;66:1588-1590
© 2006 American Academy of Neurology
Brief Communications

Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia

S. D. Spacey, MD, P. J. Adams, BSc, P.C.P. Lam, L. A. Materek, BSc, A. J. Stoessl, MD, T. P. Snutch, PhD and G. -Y.R. Hsiung, MD

From the Division of Neurology (S.D.S., A.J.S., G.-Y.R.H.), Brain Research Center (S.D.S., A.J.S., G.-Y.R.H.), Michael Smith Laboratories (S.D.S., P.J.A., P.C.P.L., L.A.M., T.P.S.), University of British Columbia, Vancouver, BC, Canada; iCAPTURE Centre (G.-Y.R.H.), St. Paul's Hospital, University of British Columbia, BC, Canada.

Address correspondence and reprint requests to Dr. Sian Spacey, Neurology and Neurogenetics, Room S-127, 2211 Wesbrook Mall, UBC Hospital, Vancouver, BC V6T 2B5, Canada; e-mail: spacey{at}interchange.ubc.ca

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.

Dr. Spacey is supported by the Vancouver Coastal Health Authority Clinician-Scientist Award and Dr. Snutch is supported by a CIHR Senior Scientist Award.

Disclosure: The authors report no conflicts of interest.

Received August 18, 2005. Accepted in final form March 2, 2006.




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