ParkinsonV1, Main, Exploration, bibRecord, 001D08

A Chromosome 4P Haplotype Segregating with Parkinson's Disease and Postural Tremor

Identifieur interne : 001D08 ( Main/Exploration ); précédent : 001D07; suivant : 001D09

A Chromosome 4P Haplotype Segregating with Parkinson's Disease and Postural Tremor

Auteurs : Matt Farrer [États-Unis] ; Katrina Gwinn-Hardy [États-Unis] ; Manfred Muenter [États-Unis] ; Fabienne Wavrant Devrieze [États-Unis] ; Richard Crook [États-Unis] ; Jordi Perez-Tur [États-Unis] ; Sarah Lincoln [États-Unis] ; Demetrius Maraganore ; Charles Adler [États-Unis] ; Stephanie Newman [États-Unis] ; Kari Macelwee [États-Unis] ; Page Mccarthy [États-Unis] ; Carol Miller [États-Unis] ; Cheryl Waters ; John Hardy [États-Unis]

Source :

Human Molecular Genetics [ 0964-6906 ] ; 1999-01.

RBID : ISTEX:F6BF00977AB6A4566A60C223CD75F2EC547052A1

Abstract

We investigated a large family with levodopa-responsive, Lewy body parkinsonism in which the disease segregates as an apparent autosomal dominant trait. After performing a genome screen, we identified a chromosome 4p haplotype that segregates with the disease. However, this haplotype also occurs in individuals in the pedigree who do not have clinical Lewy body parkinsonism but rather suffer from postural tremor, consistent with essential tremor. These data demonstrate a new locus for Lewy body parkinsonism and suggest that in some circumstances postural tremor can be an alternative phenotype of the same pathogenic mutation as Lewy body parkinsonism.

Url:

https://api.istex.fr/document/F6BF00977AB6A4566A60C223CD75F2EC547052A1/fulltext/pdf

DOI: 10.1093/hmg/8.1.81

Affiliations:

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Le document en format XML

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<author><name sortKey="Gwinn Hardy, Katrina" sort="Gwinn Hardy, Katrina" uniqKey="Gwinn Hardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name>
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<front><div type="abstract">We investigated a large family with levodopa-responsive, Lewy body parkinsonism in which the disease segregates as an apparent autosomal dominant trait. After performing a genome screen, we identified a chromosome 4p haplotype that segregates with the disease. However, this haplotype also occurs in individuals in the pedigree who do not have clinical Lewy body parkinsonism but rather suffer from postural tremor, consistent with essential tremor. These data demonstrate a new locus for Lewy body parkinsonism and suggest that in some circumstances postural tremor can be an alternative phenotype of the same pathogenic mutation as Lewy body parkinsonism.</div>
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A Chromosome 4P Haplotype Segregating with Parkinson's Disease and Postural Tremor

A Chromosome 4P Haplotype Segregating with Parkinson's Disease and Postural Tremor

Source :

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