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Updated: Jul 6, 2026

The Use of Primary Human Fibroblasts for Monitoring Mitochondrial Phenotypes in the Field of Parkinson's Disease
Published on: October 3, 2012
Two large British kindreds with familial Parkinson's disease: a clinico-pathological and genetic study
D J Nicholl1, J R Vaughan, N L Khan
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.
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