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 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.
Spacey
S D
SD
Division of Neurology, University of British Columbia, Vancouver, BC, Canada. spacey@interchange.ubc.ca
Adams
P J
PJ
Lam
P C P
PC
Materek
L A
LA
Stoessl
A J
AJ
Snutch
T P
TP
Hsiung
G-Y R
GY
D002170:Canada; D002819:Chorea / Q000235:genetics*; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D004252:DNA Mutational Analysis; D005060:Europe / Q000208:ethnology; D005260:Female; D018740:Genetic Heterogeneity; D005968:Glutamate Decarboxylase / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007527:Isoenzymes / Q000235:genetics; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D009124:Muscle Proteins / Q000235:genetics; D010375:Pedigree; D010641:Phenotype
D007527:Isoenzymes; D009124:Muscle Proteins; C495444:PNKD protein, human; D005968:Glutamate Decarboxylase; C402565:glutamate decarboxylase 1