Haplotype analysis at the DYT1 Locus in ashkenazi jewish patients with occupational hand dystonia
Identifieur interne : 002F12 ( Istex/Curation ); précédent : 002F11; suivant : 002F13Haplotype 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.
English descriptors
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.
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DOI: 10.1002/mds.870110208
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="1996-03">1996-03</date><biblScope unit="vol">11</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="163">163</biblScope><biblScope unit="page" to="166">166</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">D2074A90A78531103E8FFDF948C4D774F884B7C7</idno><idno type="DOI">10.1002/mds.870110208</idno><idno type="ArticleID">MDS870110208</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>DYT1 locus</term><term>Genetics of dystonia</term><term>Hand dystonia</term><term>Musician's cramp</term><term>Writer's cramp</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><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></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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