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

摘要

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.