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Diffuse leukodystrophy with a large-scale mitochondrial DNA deletion.

A Nakai·Y Goto·K Fujisawa·Y Shigematsu·Y Kikawa·Y Konishi·I Nonaka·M Sudo
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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.

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Base SequenceBrainChildDNA, MitochondrialDiffuse Cerebral Sclerosis of SchilderFemaleHumansMagnetic Resonance ImagingMusclesSequence DeletionCase ReportsJournal Article

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A Nakai, Y Goto, K Fujisawa, Y Shigematsu, Y Kikawa, Y Konishi, I Nonaka, M Sudo. 1994-06-04. Diffuse leukodystrophy with a large-scale mitochondrial DNA deletion.. https://doi.org/10.1016/s0140-6736(94)92527-5

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