Two large British kindreds with familial Parkinson's disease: a clinico-pathological and genetic study

Brain. 2002 Jan;125(Pt 1):44-57. doi: 10.1093/brain/awf013.

Abstract

We present the findings of a study of two large unrelated kindreds with autosomal dominant Parkinson's disease. The affected members were assessed clinically and with [(18)F]6-fluorodopa-PET and were indistinguishable from patients with the sporadic form of Parkinson's disease. In one kindred, an affected member was examined subsequently at autopsy and Lewy bodies were present in a distribution typical of sporadic Parkinson's disease. These kindreds are distinct from other Parkinsonian kindreds with identified genetic loci (PARK1-4) and provide further evidence for genetic heterogeneity in familial Parkinson's disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Brain / metabolism
  • Brain / pathology*
  • Data Interpretation, Statistical
  • Female
  • Genetic Linkage
  • Genetic Predisposition to Disease
  • Humans
  • Immunohistochemistry
  • Lewy Bodies / pathology
  • Male
  • Middle Aged
  • Neurons / metabolism
  • Neurons / pathology
  • Parkinson Disease / genetics*
  • Parkinson Disease / pathology*
  • Parkinson Disease / physiopathology
  • Pedigree
  • Tomography, Emission-Computed
  • United Kingdom