DIFFUSE LEUKODYSTROPHY WITH A LARGE-SCALE MITOCHONDRIAL-DNA DELETION

被引：31

作者：

NAKAI, A ^{[1
]}

GOTO, Y ^{[1
]}

FUJISAWA, K ^{[1
]}

SHIGEMATSU, Y ^{[1
]}

KIKAWA, Y ^{[1
]}

KONISHI, Y ^{[1
]}

NONAKA, I ^{[1
]}

SUDO, M ^{[1
]}

机构：

[1] NATL CTR NEUROL & PSYCHIAT,NATL INST NEUROSCI,DIV ULTRASTRUCT RES,KODAIRA 187,TOKYO,JAPAN

来源：

LANCET | 1994年 / 343卷 / 8910期

关键词：

D O I：

10.1016/S0140-6736(94)92527-5

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：1397 / 1398

页数：2

共 10 条

[1] THE INHERITED LEUKODYSTROPHIES - A CLINICAL OVERVIEW [J].

AICARDI, J .

JOURNAL OF INHERITED METABOLIC DISEASE, 1993, 16 (04) :733-743

[2]

DEMANGE P, 1989, AM J NEURORADIOL, V10, P91

[3]

ELSAS T, 1988, ACTA OPHTHALMOL, V66, P469

[4]

LESTIENNE P, 1988, LANCET, V1, P885

[5]

NAKAGAWA M, 1991, CLIN NEUROL, V31, P981

[6] MITOCHONDRIAL-DNA DELETIONS IN INHERITED RECURRENT MYOGLOBINURIA [J].

OHNO, K ;

TANAKA, M ;

SAHASHI, K ;

IBI, T ;

SATO, W ;

YAMAMOTO, T ;

TAKAHASHI, A ;

OZAWA, T .

ANNALS OF NEUROLOGY, 1991, 29 (04) :364-369

[7]

ROTIG A, 1988, LANCET, V2, P567

[8]

SANDHU FS, 1991, AM J NEURORADIOL, V12, P375

[9] A DIRECT REPEAT IS A HOTSPOT FOR LARGE-SCALE DELETION OF HUMAN MITOCHONDRIAL-DNA [J].

SCHON, EA ;

RIZZUTO, R ;

MORAES, CT ;

NAKASE, H ;

ZEVIANI, M ;

DIMAURO, S .

SCIENCE, 1989, 244 (4902) :346-349

[10]

SHINDO K, 1991, CLIN NEUROL TOKYO, V31, P539

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