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

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...

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Bibliographic Details
Published in:Human molecular genetics 1999-01, Vol.8 (1), p.81-85
Main Authors: Farrer, Matt, Gwinn-Hardy, Katrina, Muenter, Manfred, DeVrieze, Fabienne Wavrant, Crook, Richard, Perez-Tur, Jordi, Lincoln, Sarah, Maraganore, Demetrius, Adler, Charles, Newman, Stephanie, MacElwee, Kari, McCarthy, Page, Miller, Carol, Waters, Cheryl, Hardy, John
Format: Article
Language:English
Subjects:
Biological and medical sciences
chromosome 4
Chromosome Mapping
Chromosomes, Human, Pair 4 - genetics
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Female
Genes, Dominant
Haplotypes
Humans
Levodopa - therapeutic use
Lod Score
Male
Medical sciences
Neurology
Parkinson Disease - drug therapy
Parkinson Disease - genetics
Parkinson's disease
Pedigree
Phenotype
Posture
Tremor - genetics
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Summary: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.
ISSN:0964-6906
1460-2083
1460-2083
DOI:10.1093/hmg/8.1.81