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Nonsyndromic Parkinson disease in a family with autosomal dominant optic atrophy due to OPA1 mutations

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posted on 23.08.2019, 15:00 by DS Lynch, SH Loh, J Harley, AJ Noyce, LM Martins, NW Wood, H Houlden, H Plun-Favreau
Many genes implicated in familial Parkinson disease (PD) code for proteins with mitochondrial function.1 Several of these genes, including PINK1 and PARK2, are involved in mitophagy, a mitochondrial quality control pathway.2 We describe a family with 3 members affected by autosomal dominant optic atrophy in which 2 affected members also developed PD. While the role of mitophagy-related genes in PD is well established, this report provides further evidence of PD risk conferred through abnormal mitochondrial fusion and cristae morphology.

Funding

Leonard Wolfson Experimental Neurology Centre, the Medical Research Council, and the Wellcome Trust.

History

Citation

Neurology Genetics, 2017, 3 (5), pp. e188-e188

Author affiliation

/Organisation/COLLEGE OF LIFE SCIENCES/Biological Sciences/Molecular & Cell Biology

Version

VoR (Version of Record)

Published in

Neurology Genetics

Publisher

American Academy of Neurology

eissn

2376-7839

Acceptance date

05/07/2017

Copyright date

2017

Available date

23/08/2019

Language

en

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