| Literature DB >> 9887334 |
M Farrer1, K Gwinn-Hardy, M Muenter, F W DeVrieze, R Crook, J Perez-Tur, S Lincoln, D Maraganore, C Adler, S Newman, K MacElwee, P McCarthy, C Miller, C Waters, J Hardy.
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 samepathogenic mutation as Lewy body parkinsonism.Entities:
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Year: 1999 PMID： 9887334 DOI： 10.1093/hmg/8.1.81
Source DB: PubMed Journal: Hum Mol Genet ISSN： 0964-6906 Impact factor: 6.150