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

Research output: Contribution to journalArticle

234 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 languageEnglish (US)
Pages (from-to)81-85
Number of pages5
JournalHuman molecular genetics
Volume8
Issue number1
DOIs
StatePublished - Jan 26 1999

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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    Farrer, M., Gwinn-Hardy, K., Muenter, M., DeVrieze, F. W., Crook, R., Perez-Tur, J., Lincoln, S., Maraganore, D., Adler, C., Newman, S., MacElwee, K., McCarthy, P., Miller, C., Waters, C., & Hardy, J. (1999). A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor. Human molecular genetics, 8(1), 81-85. https://doi.org/10.1093/hmg/8.1.81