MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY (MNGIE) - CLINICAL, BIOCHEMICAL, AND GENETIC FEATURES OF AN AUTOSOMAL RECESSIVE MITOCHONDRIAL DISORDER

被引:344
作者
HIRANO, M
SILVESTRI, G
BLAKE, DM
LOMBES, A
MINETTI, C
BONILLA, E
HAYS, AP
LOVELACE, RE
BUTLER, I
BERTORINI, TE
THRELKELD, AB
MITSUMOTO, H
SALBERG, LM
ROWLAND, LP
DIMAURO, S
机构
[1] COLUMBIA UNIV,COLL PHYS & SURG,COLUMBIA PRESBYTERIAN MED CTR,DEPT NEUROL,NEW YORK,NY
[2] COLUMBIA UNIV,COLL PHYS & SURG,COLUMBIA PRESBYTERIAN MED CTR,DEPT PATHOL,DIV NEUROPATHOL,NEW YORK,NY
[3] UNIV TEXAS,MED CTR,HOUSTON,TX
[4] LEXINGTON CLIN,LEXINGTON,KY
[5] UNIV TENNESSEE,DEPT NEUROL,MEMPHIS,TN
[6] WILMER OPHTHALMOL INST,BALTIMORE,MD
[7] CLEVELAND CLIN FDN,CLEVELAND,OH 44195
[8] INDIANA UNIV,MED CTR,DEPT NEUROL,GARY,IN
关键词
D O I
10.1212/WNL.44.4.721
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
We studied the clinical, biochemical, and genetic features of eight patients with the autosomal recessive mitochondrial syndrome mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). MNGIE is clinically characterized by ophthalmoparesis, peripheral neuropathy, leukoencephalopathy, gastrointestinal symptoms (recurrent nausea, vomiting, or diarrhea) with intestinal dysmotility, and histologically abnormal mitochondria in muscle. Brain MRI scans were consistent with leukodystrophy in seven patients examined. Nerve conduction and EMG studies were compatible with a sensorimotor neuropathy; quantitative EMG of two patients suggested a myogenic process. Muscle mitochondrial enzyme analysis revealed a partial defect of cytochrome c oxidase activity in five patients; three had additional respiratory chain enzyme defects. Two patients had isolated complex I defects, and one had normal respiratory chain function. Southern blot analysis revealed multiple deletions of mitochondrial DNA in four of eight patients.
引用
收藏
页码:721 / 727
页数:7
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