Syndromic parkinsonism and dementia associated with <scp> <i>OPA</i> </scp> <i>1</i> missense mutations

Abstract

The association of CPEO and parkinsonism/dementia with subclinical optic neuropathy widens the phenotypic spectrum of OPA1 mutations, highlighting the association of defective mitochondrial dynamics, mtDNA multiple deletions, and altered mitophagy with parkinsonism.