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

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

DOI

  • D. J. Nicholl, Queen Elizabeth Hospital, University Hospital Birmingham NHS Foundation Trust
  • ,
  • J. R. Vaughan, Institute of Neurology
  • ,
  • N. L. Khan
  • S. L. Ho, Division of Neurology, The University of Hong Kong
  • ,
  • D. E.W. Aldous, Queen Elizabeth Hospital, University Hospital Birmingham NHS Foundation Trust
  • ,
  • S. Lincoln, Mayo Clinic in Jacksonville, Florida
  • ,
  • M. Farrer, Mayo Clinic in Jacksonville, Florida
  • ,
  • J. D. Gayton
  • ,
  • M. B. Davis, Institute of Neurology
  • ,
  • P. Piccini, Hammersmith Hospital
  • ,
  • S. E. Daniel, Parkinson's Disease Society Brain Research Centre
  • ,
  • G. G. Lennox, Addenbrooke's Hospital
  • ,
  • D. J. Brooks
  • A. C. Williams, Queen Elizabeth Hospital, University Hospital Birmingham NHS Foundation Trust
  • ,
  • N. W. Wood, Institute of Neurology

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.

Original languageEnglish
JournalBrain
Volume125
Issue1
Pages (from-to)44-57
Number of pages14
ISSN0006-8950
DOIs
Publication statusPublished - 1 Jan 2002
Externally publishedYes

    Research areas

  • Familial, Lewy body, Parkin, Parkinson's disease, α-synuclein

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