MovDisordV3, Main, Exploration, bibRecord, 005643

Haplotype analysis at the DYT1 Locus in ashkenazi jewish patients with occupational hand dystonia

Identifieur interne : 005643 ( Main/Exploration ); précédent : 005642; suivant : 005644

Haplotype analysis at the DYT1 Locus in ashkenazi jewish patients with occupational hand dystonia

Auteurs : T. Gasser [États-Unis, Allemagne] ; C. M. Bove [États-Unis] ; L. J. Ozelius [États-Unis] ; M. Hallett [États-Unis] ; M. E. Charness [États-Unis] ; F. H. Hochberg [États-Unis] ; Breakefield [États-Unis]

Source :

Movement Disorders [ 0885-3185 ] ; 1996-03.

RBID : ISTEX:D2074A90A78531103E8FFDF948C4D774F884B7C7

Descripteurs français

Pascal (Inist)
- Crampe écrivain, Dystonie, Exploration, Haplotype, Homme, Locus DYT1, Main.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Adult, Aged, Chromosome Aberrations (genetics), Chromosome Disorders, Chromosome Mapping, Chromosomes, Human, Pair 9, DNA Mutational Analysis, DYT1 locus, Dystonia, Dystonia Musculorum Deformans (genetics), Exploration, Female, Genes, Dominant, Genetic Markers (genetics), Genetics of dystonia, Hand, Hand dystonia, Handwriting, Haplotype, Haplotypes (genetics), Human, Humans, Jews (genetics), Male, Middle Aged, Muscle Cramp (genetics), Music, Musician's cramp, Occupational Diseases (diagnosis), Occupational Diseases (genetics), Phenotype, Polymorphism, Genetic, Writer cramp, Writer's cramp.
MESH :
- chemical , genetics : Genetic Markers.
- diagnosis : Occupational Diseases.
- genetics : Chromosome Aberrations, Dystonia Musculorum Deformans, Haplotypes, Jews, Muscle Cramp, Occupational Diseases.
- Adult, Aged, Chromosome Disorders, Chromosome Mapping, Chromosomes, Human, Pair 9, DNA Mutational Analysis, Female, Genes, Dominant, Handwriting, Humans, Male, Middle Aged, Music, Phenotype, Polymorphism, Genetic.

Abstract

Genetic haplotypes at five marker loci that are closely linked to the DYT1 gene on chromosome 9q were determined in 10 Ashkenazi Jewish patients with focal hand dystonia (eight with musician's cramp, two with writer's cramp). The founder haplotype associated with >90% of cases of generalized dystonia in the Ashkenazi Jewish population could not be constructed from any of the twenty chromosomes. Potential haplotypes were determined, and no common haplotype was discerned in these patients. These findings argue against a role for the founder mutation in the DYT1 gene in the etiology of occupational hand dystonia in this ethnic group. Further, if the DYT1 gene is involved in these later onset dystonias, there is no evidence for a common mutation in the Ashkenazic Jewish population. It appears that excessive, repetitive use, possibly in combination with ulnar neuropathy, may serve as the inciting cause of some focal dystonias.

Url:

https://api.istex.fr/document/D2074A90A78531103E8FFDF948C4D774F884B7C7/fulltext/pdf

DOI: 10.1002/mds.870110208

Affiliations:

Le document en format XML

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<term>Chromosome Mapping</term>
<term>Chromosomes, Human, Pair 9</term>
<term>DNA Mutational Analysis</term>
<term>DYT1 locus</term>
<term>Dystonia</term>
<term>Dystonia Musculorum Deformans (genetics)</term>
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<front><div type="abstract" xml:lang="en">Genetic haplotypes at five marker loci that are closely linked to the DYT1 gene on chromosome 9q were determined in 10 Ashkenazi Jewish patients with focal hand dystonia (eight with musician's cramp, two with writer's cramp). The founder haplotype associated with >90% of cases of generalized dystonia in the Ashkenazi Jewish population could not be constructed from any of the twenty chromosomes. Potential haplotypes were determined, and no common haplotype was discerned in these patients. These findings argue against a role for the founder mutation in the DYT1 gene in the etiology of occupational hand dystonia in this ethnic group. Further, if the DYT1 gene is involved in these later onset dystonias, there is no evidence for a common mutation in the Ashkenazic Jewish population. It appears that excessive, repetitive use, possibly in combination with ulnar neuropathy, may serve as the inciting cause of some focal dystonias.</div>
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Movement Disorders (revue)

Haplotype analysis at the DYT1 Locus in ashkenazi jewish patients with occupational hand dystonia

Haplotype analysis at the DYT1 Locus in ashkenazi jewish patients with occupational hand dystonia

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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