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  • Title: Two large British kindreds with familial Parkinson's disease: a clinico-pathological and genetic study.
    Author: Nicholl DJ, Vaughan JR, Khan NL, Ho SL, Aldous DE, Lincoln S, Farrer M, Gayton JD, Davis MB, Piccini P, Daniel SE, Lennox GG, Brooks DJ, Williams AC, Wood NW.
    Journal: Brain; 2002 Jan; 125(Pt 1):44-57. PubMed ID: 11834592.
    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.
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