Syndromic parkinsonism and dementia associated with OPA1 missense mutations.

doi:10.1002/ana.24410

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Article

Syndromic parkinsonism and dementia associated with OPA1 missense mutations.

Annals of neurology - 1 Jul 2015

Carelli Valerio, Musumeci Olimpia, Caporali Leonardo, Zanna Claudia, La Morgia Chiara, Del Dotto Valentina, Porcelli Anna Maria, Rugolo Michela, Valentino Maria Lucia, Iommarini Luisa, Maresca Alessandra, Barboni Piero, Carbonelli Michele, Trombetta Costantino, Valente Enza Maria, Patergnani Simone, Giorgi Carlotta, Pinton Paolo, Rizzo Giovanni, Tonon Caterina, Lodi Raffaele, Avoni Patrizia, Liguori Rocco, Baruzzi Agostino, Toscano Antonio, Zeviani Massimo

Abstract excerpt

OBJECTIVE: Mounting evidence links neurodegenerative disorders such as Parkinson disease and Alzheimer disease with mitochondrial dysfunction, and recent emphasis has focused on mitochondrial dynamics and quality control. Mitochondrial dynamics and mtDNA maintenance is another link recently emerged, implicating mutations in the mitochondrial fusion genes OPA1 and MFN2 in the pathogenesis of multisystem syndromes...

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Identifiers

PMID: 25820230
DOI: 10.1002/ana.24410
PMCID: PMC5008165

Genes

OPA1
MFN2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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