title: Leber's hereditary optic neuropathy with dystonia in a Japanese family.
abstract: We investigated a Japanese family with generalized dystonia attributed to striatal degeneration, which occurred in childhood, and late-onset optic neuropathy. We determined the entire nucleotide sequence of mitochondrial DNA (mtDNA) from the proband and compared our findings with the 2001 Revised Cambridge Reference Sequence. The mtDNA of the proband showed a total of 42 nucleotide changes. We identified two A3203G and G14459A mutations, which were completely absent in a population of 200 healthy Japanese, by estimating the frequency of each nucleotide change. The nucleotide G14459A mutation occurs in NADH dehydrogenase subunit 6, and has been suggested previously as the disease-causing mutation in Hispanic, African-American and Caucasian families of Leber's hereditary optic neuropathy (LHON) and/or dystonia. The significance of the A3203G mutation remains unknown. To our knowledge, this is the first case of LHON with dystonia that revealed a mtDNA mutation in a Japanese family.
authors.affiliation: Department of Neurology, Kumamoto Saishunso Hospital, National Hospital Organization, 2659 Suya, Nishigoshi, Kikuchi-gun, 861-1196, Japan.
authors.forename: Masaki
authors.initials: M
authors.lastname: Watanabe
authors.forename: Shuji
authors.initials: S
authors.lastname: Mita
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Takita
authors.forename: Yu-ichi
authors.initials: Y
authors.lastname: Goto
authors.forename: Makoto
authors.initials: M
authors.lastname: Uchino
authors.forename: Shigehiro
authors.initials: S
authors.lastname: Imamura
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001480:Basal Ganglia Diseases / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D001483:Base Sequence / Q000235:genetics; D003342:Corpus Striatum / Q000473:pathology / Q000503:physiopathology; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000032:analysis / Q000235:genetics; D004421:Dystonia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009245:NADH Dehydrogenase / Q000235:genetics; D029242:Optic Atrophy, Hereditary, Leber / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree
chemical_list: D004272:DNA, Mitochondrial; D009245:NADH Dehydrogenase