Two large British kindreds with familial Parkinson’s disease: a clinico‐pathological and genetic study | Zendy

David Nicholl | Zendy; Jenny Vaughan | Zendy; Naheed L. Khan | Zendy; S. L. Ho | Zendy; D. E. W. Aldous | Zendy; S. Lincoln | Zendy; Matthew J. Farrer | Zendy; Juliet Gayton | Zendy; Mary B. Davis | Zendy; Paola Piccini | Zendy; S. E. Daniel | Zendy; Graham Lennox | Zendy; David J. Brooks | Zendy; Ann C. Williams | Zendy; Nicholas Wood | Zendy

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Two large British kindreds with familial Parkinson’s disease: a clinico‐pathological and genetic study

Author(s) -

David Nicholl,

Jenny Vaughan,

Naheed L. Khan,

S. L. Ho,

D. E. W. Aldous,

S. Lincoln,

Matthew J. Farrer,

Juliet Gayton,

Mary B. Davis,

Paola Piccini,

S. E. Daniel,

Graham Lennox,

David J. Brooks,

Ann C. Williams,

Nicholas Wood

Publication year - 2002

Publication title -

brain

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 5.142

H-Index - 336

eISSN - 1460-2156

pISSN - 0006-8950

DOI - 10.1093/brain/awf013

Subject(s) - disease , parkinson's disease , degenerative disease , pathological , synuclein , genetic heterogeneity , parkin , pathology , medicine , genetics , alpha synuclein , biology , phenotype , gene

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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