Two large British kindreds with autosomal dominant Parkinson's disease: a clinical, pathological, and PET study

David Nicholl, J Vaughan, DE Aldous, P Piccine, D Brooks, N Wood

Research output: Contribution to journalArticle

20 Citations (Scopus)

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.
Original languageEnglish
Pages (from-to)44-57
Number of pages14
JournalBrain
Volume125
Issue number1
DOIs
Publication statusPublished - 1 Jan 2002

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