Do not biopsy the MELAS brain
We read with interest the article by Hass et al. on a 67-year-old female with mitochondrial encephalopathy, lactic acidosis, and stroke-like episode (MELAS) syndrome due to the variant m.3243A > G with a heteroplasmy rate of 10% in blood, which was initially incorrectly identified as progressive supra-nuclear palsy (PSP) [1]. The mtDNA variant manifested itself phenotypically with cognitive impairment, headache, hypoacusis, gait disturbance falls, and diabetes [1]. Her son also suffered from “stroke”, hypoacusis, and seizures [1].
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Josef Finsterer, Sounira Mehri Tags: Correspondence Source Type: research