A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor

Matt Farrer; Katrina Gwinn-Hardy; Manfred Muenter; Fabienne Wavrant DeVrieze; Richard Crook; Jordi Perez-Tur; Sarah Lincoln; Demetrius Maraganore; Charles Adler; Stephanie Newman; Kari MacElwee; Page McCarthy; Carol Miller; Cheryl Waters; John Hardy

doi:10.1093/hmg/8.1.81

A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor

Matt Farrer, Katrina Gwinn-Hardy, Manfred Muenter, Fabienne Wavrant DeVrieze, Richard Crook, Jordi Perez-Tur, Sarah Lincoln, Demetrius Maraganore, Charles Adler, Stephanie Newman, Kari MacElwee, Page McCarthy, Carol Miller, Cheryl Waters, John Hardy

Neurology

Research output: Contribution to journal › Article › peer-review

236 Scopus citations

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.

Original language	English (US)
Pages (from-to)	81-85
Number of pages	5
Journal	Human molecular genetics
Volume	8
Issue number	1
DOIs	https://doi.org/10.1093/hmg/8.1.81
State	Published - 1999

ASJC Scopus subject areas

Molecular Biology
Genetics
Genetics(clinical)

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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.",

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AU - Farrer, Matt

AU - Gwinn-Hardy, Katrina

AU - Muenter, Manfred

AU - DeVrieze, Fabienne Wavrant

AU - Crook, Richard

AU - Perez-Tur, Jordi

AU - Lincoln, Sarah

AU - Maraganore, Demetrius

AU - Adler, Charles

AU - Newman, Stephanie

AU - MacElwee, Kari

AU - McCarthy, Page

AU - Miller, Carol

AU - Waters, Cheryl

AU - Hardy, John

PY - 1999

Y1 - 1999

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AB - 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.

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A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor

Abstract

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