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 characterized by neurodegeneration and accumulation of mtDNA multiple deletions in postmitotic tissues. Here, we report 2 Italian families affected by dominant chronic progressive external ophthalmoplegia (CPEO) complicated by parkinsonism and dementia.

Syndromic parkinsonism and dementia associated with OPA1 missense mutations

CARELLI, VALERIO;Caporali, L.;ZANNA, CLAUDIA;LA MORGIA, CHIARA;DEL DOTTO, VALENTINA;PORCELLI, ANNA MARIA;RUGOLO, MICHELA;VALENTINO, MARIA LUCIA;IOMMARINI, LUISA;MARESCA, ALESSANDRA;RIZZO, GIOVANNI;TONON, CATERINA;LODI, RAFFAELE;AVONI, PATRIZIA;LIGUORI, ROCCO;
2015

Abstract

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 characterized by neurodegeneration and accumulation of mtDNA multiple deletions in postmitotic tissues. Here, we report 2 Italian families affected by dominant chronic progressive external ophthalmoplegia (CPEO) complicated by parkinsonism and dementia.
ANNALS OF NEUROLOGY
Carelli, V.; Musumeci, O.; Caporali, L.; Zanna, C.; La Morgia, C.; Del Dotto, V.; Porcelli, A.M.; Rugolo, M.; Valentino, M.L.; Iommarini, L.; Maresca, A.; Barboni, P.; Carbonelli, M.; Trombetta, C.; Valente, E.M.; Patergnani, S.; Giorgi, C.; Pinton, P.; Rizzo, G.; Tonon, C.; Lodi, R.; Avoni, P.; Liguori, R.; Baruzzi, A.; Toscano, A.; Zeviani, M.
File in questo prodotto:
File Dimensione Formato  
ana.24410.pdf

accesso aperto

Tipo: Versione (PDF) editoriale
Licenza: Licenza per Accesso Aperto. Creative Commons Attribuzione - Non commerciale - Non opere derivate (CCBYNCND)
Dimensione 1.32 MB
Formato Adobe PDF
1.32 MB Adobe PDF Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11585/515671
Citazioni
  • ???jsp.display-item.citation.pmc??? 61
  • Scopus 113
  • ???jsp.display-item.citation.isi??? 110
social impact