MELAS syndrome -: Case-report

被引：0

作者：

Hadac, J

Hnevsová, P

Zeman, J

Konrádová, V

Hansíková, H

Richterová, I

Fendrych, P

Rolencová, E

机构：

[1] Fak Thomayerova Nemocnice, Oddeleni Detske Neurol, Prague 14059 4, Czech Republic

[2] LF UK, Lab Vyzkum Mitochondrialnich Onemocneni 1, Klin Detskeho Dorostoveho Lekarstvi, Prague, Czech Republic

[3] Zakladna Radiodiagnost & Intervencni Radiol IKEM, Prague, Czech Republic

来源：

CESKA A SLOVENSKA NEUROLOGIE A NEUROCHIRURGIE | 2000年 / 63卷 / 03期

关键词：

MELAS syndrome; mitochondrial encephalomyopathy; MR imaging;

D O I：

暂无

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

The authors present a case-report of the MELAS syndrome in a 20-year-old woman. Suspicion that this syndrome is involved was aroused besides the typical clinical, picture also by the finding of laterally changing ischaemic lesions, manifested in particular in the area of the lobes and apparent-during repeated examinations by magnetic resonance. The diagnosis was confirmed by molecular genetic examination which provided evidence of the presence of heteroplasmic point mutation of the type 3243 AG in the gene tRNA(leu) of mitochondrial DNA in muscle tissue and blood.

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页码：180 / 184

页数：5

相关论文

共 14 条

[1] THE EXPANDING CLINICAL SPECTRUM OF MITOCHONDRIAL DISEASES [J].

DEVIVO, DC .

BRAIN & DEVELOPMENT, 1993, 15 (01) :1-22

[2] EXTREME VARIABILITY OF CLINICAL SYMPTOMS AMONG SIBS IN A MELAS FAMILY CORRELATED WITH HETEROPLASMY FOR THE MITOCHONDRIAL A3243G MUTATION [J].

DEVRIES, D ;

DEWIJS, I ;

RUITENBEEK, W ;

BEGEER, J ;

SMIT, P ;

BENTLAGE, H ;

VANOOST, B .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1994, 124 (01) :77-82

[3] MITOCHONDRIAL ENCEPHALOMYOPATHIES [J].

DIMAURO, S ;

MORAES, CT .

ARCHIVES OF NEUROLOGY, 1993, 50 (11) :1197-1208

[4] MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC-ACIDOSIS, AND STROKE-LIKE EPISODES (MELAS) - A CORRELATIVE STUDY OF THE CLINICAL-FEATURES AND MITOCHONDRIAL-DNA MUTATION [J].

GOTO, Y ;

HORAI, S ;

MATSUOKA, T ;

KOGA, Y ;

NIHEI, K ;

KOBAYASHI, M ;

NONAKA, I .

NEUROLOGY, 1992, 42 (03) :545-550

[5] A MUTATION IN THE TRANSFER RNALEU(UUR) GENE ASSOCIATED WITH THE MELAS SUBGROUP OF MITOCHONDRIAL ENCEPHALOMYOPATHIES [J].

GOTO, Y ;

NONAKA, I ;

HORAI, S .

NATURE, 1990, 348 (6302) :651-653

[6] Photic stimulation-induced alteration of brain energy metabolism measured by 31P-MR spectroscopy in patients with MELAS [J].

Kato, T ;

Murashita, J ;

Shioiri, T ;

Terada, M ;

Inubushi, T ;

Kato, N .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1998, 155 (02) :182-185

[7] A POINT MUTATION IN THE MITOCHONDRIAL TRANSFER RNALEU(UUR) GENE IN MELAS (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC-ACIDOSIS AND STROKE-LIKE EPISODES) [J].

KOBAYASHI, Y ;

MOMOI, MY ;

TOMINAGA, K ;

MOMOI, T ;

NIHEI, K ;

YANAGISAWA, M ;

KAGAWA, Y ;

OHTA, S .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1990, 173 (03) :816-822

[8]

KOBAYASHI Y, 1991, AM J HUM GENET, V49, P590

[9]

*MITOMAP, 1999, HUM MIT GEN DAT

[10] Serial imaging in MELAS [J].

Miyamoto, A ;

Oki, J ;

Takahashi, S ;

Itoh, J ;

Kusunoki, Y ;

Cho, K .

NEURORADIOLOGY, 1997, 39 (06) :427-430