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Updated: Feb 27, 2026

Author Spotlight: Decoding Mitochondrial Aging
Published on: June 30, 2023
Mitochondrial ANT-1 related adPEO leading to cognitive impairment: is there a link?
Costanza Simoncini1, Gabriele Siciliano1, Gloria Tognoni1
1Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Italy.
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.
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