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.
Carelli, V., Musumeci, O., Caporali, L., Zanna, C., La Morgia, C., Del Dotto, V., et al. (2015). Syndromic parkinsonism and dementia associated with OPA1 missense mutations. ANNALS OF NEUROLOGY, 78(1), 21-38 [10.1002/ana.24410].
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.File | Dimensione | Formato | |
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