title: Distinctive distribution of brain volume reductions in MELAS and mitochondrial DNA A3243G mutation carriers: A voxel-based morphometric study.
abstract: The aim of this study was to investigate the clinically latent brain atrophy of patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) harboring a mitochondrial DNA A3243G mutation (A3243G) and A3243G carriers without stroke-like episodes (SEs).
  
  
  
  We used voxel-based morphometry (VBM) with magnetic resonance imaging to investigate gray matter (GM) and white matter (WM) volume reductions in four MELAS patients and in five A3243G carriers compared to 16 healthy controls. In addition, we investigated the regions of previous SEs using conventional MRI.
  
  
  
  All four MELAS patients showed significant GM volume reductions in the left superior parietal lobule (SPL), right precuneus, right middle temporal gyrus (MTG), and bilateral posterior lobes of the cerebellum. These areas of GM volume reduction were beyond the regions of previous SEs. As for A3243G carriers, GM volume reductions in the left SPL, right precuneus, right MTG, and bilateral posterior lobes of the cerebellum were detected in three, one, two, and five subjects, respectively. All four MELAS patients showed significant WM volume reductions in the bilateral or unilateral temporal sub-gyral regions, which were included in the regions of previous SEs. No A3243G carriers showed WM volume reductions.
  
  
  
  The distribution patterns of GM volume reductions in VBM may reflect a common vulnerability of the brains among MELAS patients and A3243G carriers.
authors: Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan; Department of Neurology, Nagoya Daini Red Cross Hospital, Nagoya, Japan.
authors: Koyo
authors: K
authors: Tsujikawa
authors: Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan; Department of Neurology, Komaki City Hospital, Komaki, Japan.
authors: Joe
authors: J
authors: Senda
authors: Department of Neurology, Nagoya Daini Red Cross Hospital, Nagoya, Japan.
authors: Keizo
authors: K
authors: Yasui
authors: Department of Neurology, Nagoya Daini Red Cross Hospital, Nagoya, Japan; Department of Occupational Therapy, College of Life and Health Sciences, Chubu University, Kasugai, Japan.
authors: Yasuhiro
authors: Y
authors: Hasegawa
authors: Brain and Mind Research Center, Nagoya University, Nagoya, Japan.
authors: Minoru
authors: M
authors: Hoshiyama
authors: Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors: Masahisa
authors: M
authors: Katsuno
authors: Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan; Nagoya University Graduate School of Medicine, Nagoya, Japan. Electronic address: sobueg@med.nagoya-u.ac.jp.
authors: Gen
authors: G
authors: Sobue
mesh_terms: D000293:Adolescent; D000328:Adult; D000886:Anthropometry; D001284:Atrophy / Q000000981:diagnostic imaging / Q000473:pathology*; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology*; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D017241:MELAS Syndrome / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: D004272:DNA, Mitochondrial
keywords: MELAS; Middle temporal gyrus; Mitochondrial DNA A3243G mutation carriers; Posterior lobe; Precuneus; Superior parietal lobule; Voxel-based morphometry