Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia

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 h...

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Veröffentlicht in:	Neurology 2006-05, Vol.66 (10), p.1588-1590
Hauptverfasser:	SPACEY, S. D, ADAMS, P. J, LAM, P. C. P, MATEREK, L. A, STOESSL, A. J, SNUTCH, T. P, HSIUNG, G.-Y. R
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Canada Chorea - genetics Chromosome Mapping Chromosomes, Human, Pair 2 - genetics Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DNA Mutational Analysis Drug toxicity and drugs side effects treatment Europe - ethnology Female Genetic Heterogeneity Glutamate Decarboxylase - genetics Haplotypes - genetics Humans Isoenzymes - genetics Lod Score Male Medical sciences Microsatellite Repeats Muscle Proteins - genetics Neurology Pedigree Pharmacology. Drug treatments Phenotype Toxicity: nervous system and muscle
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Zusammenfassung:	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.
ISSN:	0028-3878 1526-632X
DOI:	10.1212/01.wnl.0000217332.51740.7c