Delineating <i>MT-ATP6</i> -associated disease

Abstract

In this currently largest series of patients with mitochondrial <i>MT-ATP6</i> mutations, the phenotypic spectrum ranged from asymptomatic to early onset multisystemic neurodegeneration. The degree of mutation heteroplasmy did not reliably predict disease severity. Leigh syndrome was found in more than half of the patients, whereas classic NARP syndrome was rare. Oligosymptomatic presentations were rather frequent in adult-onset patients, indicating the need to include <i>MT-ATP6</i> mutations in the differential diagnosis of both ataxias and neuropathies.