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Publication Detail
Two large British kindreds with familial Parkinson's disease: A clinico-pathological and genetic study
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Journal Article
  • Authors:
    Nicholl DJ, Vaughan JR, Khan NL, Ho SL, Aldous DEW, Lincoln S, Farrer M, Gayton JD, Davis MB, Piccini P, Daniel SE, Lennox GG, Brooks DJ, Williams AC, Wood NW
  • Publication date:
  • Pagination:
    44, 57
  • Journal:
  • Volume:
  • Issue:
  • Status:
  • Print ISSN:
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 [18F]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.
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