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

Citation
M. Farrer et al., A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor, HUM MOL GEN, 8(1), 1999, pp. 81-85
Citations number
35
Categorie Soggetti
Molecular Biology & Genetics
Journal title
HUMAN MOLECULAR GENETICS
ISSN journal
09646906 → ACNP
Volume
8
Issue
1
Year of publication
1999
Pages
81 - 85
Database
ISI
SICI code
0964-6906(199901)8:1<81:AC4HSW>2.0.ZU;2-9
Abstract
We investigated a large family with levodopa-responsive, Lewy body parkinso nism in which the disease segregates as an apparent autosomal dominant trai t, After performing a genome screen, we identified a chromosome 4p haplotyp e 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 t hat in some circumstances postural tremor can be an alternative phenotype o f the same pathogenic mutation as Lewy body parkinsonism.