title: Diffuse leukodystrophy with a large-scale mitochondrial DNA deletion.
abstract: An 8-year-old girl with progressive ataxia and bulbar palsy showed diffuse white-matter lesions in the occipital to parietal lobes on magnetic resonance imaging. Since she had slightly elevated lactate in the cerebrospinal fluid, a muscle biopsy was done which revealed scattered ragged-red fibres and focal cytochrome c oxidase deficiency. Southern blot and polymerase-chain-reaction analyses revealed a large-scale mitochondrial DNA deletion, which was 6990 base-pairs in length with 6 base-pair (-TCATCG-) direct repeats at the junctions. Mitochondrial DNA mutation should be considered as one of the candidate causes for diffuse leukodystrophy in children.
authors.affiliation: Department of Paediatrics, Fukui Medical School, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Nakai
authors.forename: Y
authors.initials: Y
authors.lastname: Goto
authors.forename: K
authors.initials: K
authors.lastname: Fujisawa
authors.forename: Y
authors.initials: Y
authors.lastname: Shigematsu
authors.forename: Y
authors.initials: Y
authors.lastname: Kikawa
authors.forename: Y
authors.initials: Y
authors.lastname: Konishi
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
authors.forename: M
authors.initials: M
authors.lastname: Sudo
mesh_terms: D001483:Base Sequence; D001921:Brain / Q000473:pathology; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009132:Muscles / Q000473:pathology; D017384:Sequence Deletion
chemical_list: D004272:DNA, Mitochondrial