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Brain. 2002 Jan;125(Pt 1):44-57.

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

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  • 1Department of Neurology, Queen Elizabeth Hospital, Birmingham, UK. d.j.nicholl@bham.ac.uk

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.

PMID:
11834592
[PubMed - indexed for MEDLINE]
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