Mitochondrial ANT-1 related adPEO leading to cognitive impairment: is there a link?

ANT1 is one of the nuclear genes responsible of autosomal dominant progressive external ophthalmoplegia (adPEO) with mitochondrial DNA multiple deletions. The course of ANT1- related adPEO is relatively benign, symptoms being generally restricted to skeletal muscle. Here we report the case of an Ita...

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Detalles Bibliográficos
Autores principales: Simoncini, Costanza, Siciliano, Gabriele, Tognoni, Gloria, Mancuso, Michelangelo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore SRL 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5479106/
https://www.ncbi.nlm.nih.gov/pubmed/28690391
Descripción
Sumario:ANT1 is one of the nuclear genes responsible of autosomal dominant progressive external ophthalmoplegia (adPEO) with mitochondrial DNA multiple deletions. The course of ANT1- related adPEO is relatively benign, symptoms being generally restricted to skeletal muscle. Here we report the case of an Italian 74 years old woman with ANT1-related adPEO and dementia. Further studies are needed to assess the prevalence of central neurological manifestations in ANT1 mitochondrial disease.

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