Response to Letter regarding case report, “Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes due to m.3243A > G mutation in a 76-year-old woman ”

We appreciate Dr. Finsterer's comments [1] regarding our case report in which we described a previously healthy 76-year-old woman who developed non-convulsive status epilepticus (NCSE) as a stroke-like episode [2]. Her son, who had developed mitochondrial encephalopathy due to m.3243A  > G at the age of 40 before her, presented with similar neurological symptoms and MRI findings. Using a quantitative digital PCR method, we detected 1.3% of the m.3243A > G mutation in mitochondrial DNA prepared from peripheral leukocytes in our case.

Source: Journal of the Neurological Sciences - May 18, 2020 Category: Neurology Authors: Tetsuro Ago, Kana Ueki, Yoshinobu Wakisaka, Kuniyuki Nakamura, Takanari Kitazono Tags: Response to letter to the Editor Source Type: research