Expanding the clinical spectrum of the mitochondrial mutation A13084T in the ND5 gene.

Abstract

Our group previously published about a patient with a LS/MELAS (Leigh syndrome/mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) overlap phenotype associated with a novel mitochondrial mutation in the ND5 gene.1 At that time, his 38-year-old mother presented only migraine and asymptomatic bilateral optic atrophy, without other neurologic signs or symptoms. Headache attacks, occurring about twice a month, were localized mainly in the right frontoparietal region, sometimes associated with nausea or vomit or phonophotophobia, and were responsive to nonsteroidal anti-inflammatory drugs. She carried lower levels of heteroplasmy of the same A13084T mutation (57% in lymphocytes and 48% in fibroblasts) compared with her son (82% in blood and 72% in fibroblasts). The authors gratefully thank the Associazione Centro Dino Ferrari for its support.