Lynch, DS;
Loh, SHY;
Harley, J;
Noyce, AJ;
Martins, LM;
Wood, NW;
Houlden, H;
(2017)
Nonsyndromic Parkinson disease in a family with autosomal dominant optic atrophy due to OPA1 mutations.
Neurology Genetics
, 3
(5)
, Article e188. 10.1212/NXG.0000000000000188.
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Abstract
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.
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