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

Costanza Simoncini, Gabriele Siciliano, Gloria Tognoni and Michelangelo Mancuso

Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Italy

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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