Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia.

Abstract

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.

• Authors: S D Spacey, P J Adams, P C P Lam, L A Materek, A J Stoessl, T P Snutch, G-Y R Hsiung
• Journal: Neurology (Neurology) Vol. 66 Issue 10 Pg. 1588-90 (May 23 2006) ISSN: 1526-632X [Electronic] United States
• PMID: 16717228 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Isoenzymes
• Muscle Proteins
• PNKD protein, human
• Glutamate Decarboxylase
• glutamate decarboxylase 1

Topics

• Canada
• Chorea (genetics)
• Chromosome Mapping
• Chromosomes, Human, Pair 2 (genetics)
• DNA Mutational Analysis
• Europe (ethnology)
• Female
• Genetic Heterogeneity
• Glutamate Decarboxylase (genetics)
• Haplotypes (genetics)
• Humans
• Isoenzymes (genetics)
• Lod Score
• Male
• Microsatellite Repeats
• Muscle Proteins (genetics)
• Pedigree
• Phenotype