A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q

G. T. Fouad, S. Servidei, S. Durcan, E. Bertini, L. J. Ptacek

Research output: Contribution to journalArticle

Abstract

Dyskinesias are hyperkinetic and involuntary movements that may result from any of a number of different genetic, infectious, and drug-induced causes. Some of the hereditary dyskinetic syndromes are characterized by paroxysmal onset of the abnormal movements. The classification of the familial paroxysmal dyskinesias (FPD) recognizes several distinct, although overlapping, phenotypes. Different forms of the disorder include attacks that are (1) induced by sudden movement (kinesiogenic); (2) spontaneous (non- kinesiogenic); and (3) induced by prolonged periods of exertion. Linkage analysis was pursued in a family segregating an autosomal dominant allele for non-kinesiogenic FPD. The disease allele was mapped to a locus on chromosome 2q31-36 (LOD score 4.64, θ = 0). Identification of distinct genetic loci for the paroxysmal dyskinesias will lead to a new genetic classification and to better understanding of these disorders.

Original languageEnglish
Pages (from-to)135-139
Number of pages5
JournalAmerican Journal of Human Genetics
Volume59
Issue number1
Publication statusPublished - 1996

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Chorea
Dyskinesias
Chromosomes
Alleles
Genes
Hyperkinesis
Genetic Loci
Phenotype
Pharmaceutical Preparations

ASJC Scopus subject areas

  • Genetics

Cite this

Fouad, G. T., Servidei, S., Durcan, S., Bertini, E., & Ptacek, L. J. (1996). A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. American Journal of Human Genetics, 59(1), 135-139.

A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. / Fouad, G. T.; Servidei, S.; Durcan, S.; Bertini, E.; Ptacek, L. J.

In: American Journal of Human Genetics, Vol. 59, No. 1, 1996, p. 135-139.

Research output: Contribution to journalArticle

Fouad, GT, Servidei, S, Durcan, S, Bertini, E & Ptacek, LJ 1996, 'A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q', American Journal of Human Genetics, vol. 59, no. 1, pp. 135-139.
Fouad, G. T. ; Servidei, S. ; Durcan, S. ; Bertini, E. ; Ptacek, L. J. / A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. In: American Journal of Human Genetics. 1996 ; Vol. 59, No. 1. pp. 135-139.
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