Literature DB >> 28690391

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

Costanza Simoncini1, Gabriele Siciliano1, Gloria Tognoni1, Michelangelo Mancuso1.   

Abstract

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.

Entities:  

Keywords:  ANT1; adPEO; cognitive impairment; mitochondrial dementia; mitochondrial disease

Mesh：

Substances：

Year:  2017        PMID： 28690391      PMCID： PMC5479106     

Source DB:  PubMed          Journal:  Acta Myol        ISSN： 1128-2460


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