title: Adult onset Leigh syndrome with mitochondrial DNA 8344 A>G mutation.
abstract: We report a pedigree of adult-onset Leigh syndrome (LS) with mitochondrial mutation 8344 A>G. A 38-year-old woman presented with optic neuropathy, weakness and cognitive impairment. Family history of optic neuropathy and systemic involvement was suggestive of mitochondrial encephalopathy. Genetic and radiologic studies showed m.8344 A>G mutation with characteristics of LS. To our knowledge this is the first case of adult-onset LS demonstrating the m.8344 A>G mutation.
authors: Department of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, 28 Yongon-Dong, Chongno-gu, Seoul 110-744, Republic of Korea.
authors: Jee-Young
authors: JY
authors: Han
authors: Department of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, 28 Yongon-Dong, Chongno-gu, Seoul 110-744, Republic of Korea. Electronic address: jjsaint@snu.ac.kr.
authors: Jung-Joon
authors: JJ
authors: Sung
authors: Department of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, 28 Yongon-Dong, Chongno-gu, Seoul 110-744, Republic of Korea.
authors: Hong-Kyun
authors: HK
authors: Park
authors: Department of Neurology, Inha University Medical College, Incheon, Republic of Korea.
authors: Byung-Nam
authors: BN
authors: Yoon
authors: Department of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, 28 Yongon-Dong, Chongno-gu, Seoul 110-744, Republic of Korea.
authors: Kwang-Woo
authors: KW
authors: Lee
mesh_terms: D000225:Adenine; D000328:Adult; D017668:Age of Onset; D001921:Brain / Q000473:pathology*; D060825:Cognitive Dysfunction / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D038524:Diffusion Magnetic Resonance Imaging; D005260:Female; D005820:Genetic Testing; D006147:Guanine; D006801:Humans; D007888:Leigh Disease / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D008569:Memory Disorders / Q000235:genetics; D018908:Muscle Weakness / Q000235:genetics; D009154:Mutation; D015418:Optic Atrophies, Hereditary / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D010375:Pedigree
chemical_list: D004272:DNA, Mitochondrial; D006147:Guanine; D000225:Adenine
keywords: Adult-onset; Leigh syndrome; Mitochondrial disorders; Mitochondrial encephalopathy; Myoclonic epilepsy and ragged red fibers