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: A Nakai, Y Goto, K Fujisawa, Y Shigematsu, Y Kikawa, Y Konishi, I Nonaka, M Sudo
• Journal: Lancet (London, England) (Lancet) Vol. 343 Issue 8910 Pg. 1397-8 (Jun 04 1994) ISSN: 0140-6736 [Print] England
• PMID: 7910887 (Publication Type: Case Reports, Journal Article)

Chemical References

• DNA, Mitochondrial

Topics

• Base Sequence
• Brain (pathology)
• Child
• DNA, Mitochondrial (genetics)
• Diffuse Cerebral Sclerosis of Schilder (diagnosis, genetics, pathology)
• Female
• Humans
• Magnetic Resonance Imaging
• Muscles (pathology)
• Sequence Deletion