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.
