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Mitochondrial encephalo-neuro-myopathy with myoclonus epilepsy, basal nuclei calcification and hyperlactacidemia.

作者信息

Federico A, Cornelio F, Di Donato S, Ederli E, Fabrizi G M, Manneschi L, Guazzi G C

机构信息

Istituto di Scienze Neurologiche e Centro per lo studio delle Encefalo-Neuro-Miopatie Genetiche, dell'Università di Siena.

出版信息

Ital J Neurol Sci. 1988 Feb;9(1):65-71. doi: 10.1007/BF02334410.

DOI:10.1007/BF02334410
PMID:3356526
Abstract

We report a new case of MERRF (myoclonus epilepsy with ragged red fibers) syndrome with basal nuclei calcification on the brain CT scan, without hormonal abnormalities, with high CSF protein and hyperlactacidemia, juvenile onset and death at 18 years. Biochemical study of mitochondrial muscle enzymes showed decreased NADH-cytochrome-C-reductase and Succinate-cytochrome C-reductase activity, suggesting a Complex III defect of the respiratory chain. Similar reported cases are reviewed.

摘要

相似文献

1
Mitochondrial encephalo-neuro-myopathy with myoclonus epilepsy, basal nuclei calcification and hyperlactacidemia.
Ital J Neurol Sci. 1988 Feb;9(1):65-71. doi: 10.1007/BF02334410.
2
Lactic acidosis and mitochondrial myopathy associated with deficiency of several components of complex III of the respiratory chain.乳酸酸中毒和线粒体肌病与呼吸链复合体III的几种成分缺乏相关。
Pediatr Res. 1984 Oct;18(10):991-9. doi: 10.1203/00006450-198410000-00017.
3
Myoclonus epilepsy with ragged red fibers and multiple mtDNA deletions.伴有破碎红纤维和多种线粒体DNA缺失的肌阵挛性癫痫
Neurology. 1998 Feb;50(2):524-5. doi: 10.1212/wnl.50.2.524.
4
Lactic acidemia, mitochondrial myopathy, and basal ganglia calcification.乳酸性酸中毒、线粒体肌病和基底节钙化。
Neurology. 1979 Jul;29(7):1057-60. doi: 10.1212/wnl.29.7.1057.
5
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome.线粒体肌病、脑病、乳酸酸中毒和卒中样发作：一种独特的临床综合征。
Ann Neurol. 1984 Oct;16(4):481-8. doi: 10.1002/ana.410160409.
6
[MELAS (mitochondrial encephalopathy, lactic acidosis and stroke-like episodes): report of a case].[线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）：一例报告]
Arq Neuropsiquiatr. 1987 Sep;45(3):288-94. doi: 10.1590/s0004-282x1987000300009.
7
Mitochondrial myopathy. Biochemical studies revealing a deficiency of NADH--cytochrome b reductase activity.线粒体肌病。生化研究显示NADH - 细胞色素b还原酶活性缺乏。
J Neurol Sci. 1981 Apr;50(1):1-13. doi: 10.1016/0022-510x(81)90038-1.
8
Functional respiratory chain studies in mitochondrial cytopathies. Support for mitochondrial DNA heteroplasmy in myoclonus epilepsy and ragged red fibers (MERRF) syndrome.线粒体细胞病中的功能性呼吸链研究。对肌阵挛性癫痫伴蓬毛样红纤维（MERRF）综合征中线粒体DNA异质性的支持。
Acta Neuropathol. 1991;81(3):318-23. doi: 10.1007/BF00305874.
9
Mosaicism of mitochondria in mitochondrial myopathy: an electronmicroscopic analysis of cytochrome c oxidase.线粒体肌病中线粒体的异质性：细胞色素c氧化酶的电子显微镜分析
Acta Neuropathol. 1990;80(6):642-8. doi: 10.1007/BF00307633.
10
Myoclonus and mitochondrial myopathy.肌阵挛与线粒体肌病
Adv Neurol. 1986;43:105-17.

引用本文的文献

1
Brain Calcifications: Genetic, Molecular, and Clinical Aspects.脑内钙化：遗传、分子和临床方面。
Int J Mol Sci. 2023 May 19;24(10):8995. doi: 10.3390/ijms24108995.

本文引用的文献

1
An electron-transport system associated with the outer membrane of liver mitochondria. A biochemical and morphological study.与肝线粒体外膜相关的电子传递系统。一项生化与形态学研究。
J Cell Biol. 1967 Feb;32(2):415-38. doi: 10.1083/jcb.32.2.415.
2
A tapetoretinal degeneration with symmetrical calcifications of the basal ganglia. A hereditary disease.一种伴有基底节对称性钙化的视网膜色素变性。一种遗传性疾病。
Eur Neurol. 1982;21(4):249-55. doi: 10.1159/000115488.
3
Mitochondrial encephalomyopathies: biochemical studies in two cases revealing defects in the respiratory chain.
线粒体脑肌病：两例生化研究揭示呼吸链缺陷
Brain. 1982 Sep;105 (Pt 3):553-82. doi: 10.1093/brain/105.3.553.
4
[Extrapyramidal rigidity with dystonia, optic atrophy and bilateral putaminal lesions in an adolescent. Juvenile form of Leigh's disease (author's transl)].
Rev Neurol (Paris). 1982;138(2):143-8.
5
[Spinocerebellar degeneration, optic atrophy, epilepsy, myoclonus and mitochondrial myopathy: a case report (author's transl)].[脊髓小脑变性、视神经萎缩、癫痫、肌阵挛和线粒体肌病：一例报告（作者译）]
Rev Neurol (Paris). 1982;138(3):187-200.
6
Mitochondrial myopathy and lactic acidaemia with myoclonic epilepsy, ataxia and hypothalamic infertility: a variant of Ramsay-Hunt syndrome?伴有肌阵挛性癫痫、共济失调和下丘脑性不育的线粒体肌病和乳酸性血症：拉姆齐-亨特综合征的一种变异型？
J Neurol Neurosurg Psychiatry. 1981 Jan;44(1):79-82. doi: 10.1136/jnnp.44.1.79.
7
Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature.伴有破碎红纤维（线粒体异常）的肌阵挛性癫痫：疾病实体还是综合征？两例病例的光镜和电镜研究及文献复习
J Neurol Sci. 1980 Jul;47(1):117-33. doi: 10.1016/0022-510x(80)90031-3.
8
A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis.一种婴儿期进行性家族性脑病，伴有基底节钙化和慢性脑脊液淋巴细胞增多。
Ann Neurol. 1984 Jan;15(1):49-54. doi: 10.1002/ana.410150109.
9
Skeletal muscle NAD+(P) and NADP+-dependent malic enzyme in Friedreich's ataxia.
Neurology. 1983 Jun;33(6):712-6. doi: 10.1212/wnl.33.6.712.
10
Mitochondrial encephalomyopathy with lactate-pyruvate elevation and brain infarctions.
Neurology. 1984 Jan;34(1):72-7. doi: 10.1212/wnl.34.1.72.