• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

相似文献

1
Clinical and brain MR imaging features focusing on the brain stem and cerebellum in patients with myoclonic epilepsy with ragged-red fibers due to mitochondrial A8344G mutation.线粒体A8344G突变所致的肌阵挛性癫痫伴破碎红纤维患者中聚焦于脑干和小脑的临床及脑部磁共振成像特征
AJNR Am J Neuroradiol. 2008 Feb;29(2):392-5. doi: 10.3174/ajnr.A0865. Epub 2007 Nov 7.
2
Teaching NeuroImages: Imaging phenotype of myoclonic epilepsy with ragged-red fibers.教学神经影像：伴有破碎红纤维的肌阵挛癫痫的影像表型
Neurology. 2020 May 19;94(20):e2187-e2188. doi: 10.1212/WNL.0000000000009438. Epub 2020 Apr 23.
3
Measuring brain stem and cerebellar damage in parkinsonian syndromes using diffusion tensor MRI.使用扩散张量磁共振成像测量帕金森综合征中的脑干和小脑损伤。
Neurology. 2006 Dec 26;67(12):2199-205. doi: 10.1212/01.wnl.0000249307.59950.f8.
4
Tissue segregation of a heteroplasmic mtDNA mutation in MERRF (myoclonic epilepsy with ragged red fibers) encephalomyopathy.肌阵挛性癫痫伴破碎红纤维（MERRF）脑病中异质性线粒体DNA突变的组织分离
Hum Genet. 1992 Nov;90(3):251-4. doi: 10.1007/BF00220072.
5
Myoclonic epilepsy with ragged-red fibers (MERRF): an immunohistochemical study of the brain.伴有破碎红纤维的肌阵挛性癫痫（MERRF）：大脑的免疫组织化学研究
Brain Pathol. 1995 Apr;5(2):125-33. doi: 10.1111/j.1750-3639.1995.tb00586.x.
6
Immunohistochemical demonstration of spinal ventral horn cells involvement in a case of "myoclonus epilepsy with ragged red fibers" (MERRF).免疫组织化学证实“肌阵挛性癫痫伴破碎红纤维”（MERRF）病例中脊髓腹角细胞受累。
Clin Neuropathol. 2000 Jul-Aug;19(4):200-7.
7
A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).与肌阵挛性癫痫伴蓬毛样红纤维（MERRF）相关的tRNA（Lys）基因中的一种新的线粒体DNA突变。
Am J Hum Genet. 1992 Dec;51(6):1213-7.
8
A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features.一种与肌阵挛性癫痫伴破碎红纤维及其他神经学特征相关的新型线粒体转运RNAPro基因突变。
Arch Neurol. 2009 Mar;66(3):399-402. doi: 10.1001/archneurol.2008.576.
9
Fibrous dysplasia in a child with mitochondrial A8344G mutation.一名患有线粒体A8344G突变的儿童的纤维性发育不良。
J Child Neurol. 2008 Dec;23(12):1447-50. doi: 10.1177/0883073808318541. Epub 2008 Sep 4.
10
Mitochondrial dysfunction with myoclonus epilepsy and ragged-red fibers point mutation in nerve, muscle, and adipose tissue of a patient with multiple symmetric lipomatosis.一名患有多发性对称性脂肪瘤病患者的神经、肌肉和脂肪组织中存在线粒体功能障碍伴肌阵挛性癫痫和破碎红纤维点突变。
Muscle Nerve. 1997 Jul;20(7):833-9. doi: 10.1002/(sici)1097-4598(199707)20:7<833::aid-mus7>3.0.co;2-8.

引用本文的文献

1
Spectrum of clinical neuroimaging in mitochondrial disorders: a neuroanatomical approach.线粒体疾病的临床神经影像学谱：一种神经解剖学方法
Pediatr Radiol. 2025 May 2. doi: 10.1007/s00247-025-06252-z.
2
Mitochondrial disease and epilepsy in children.儿童线粒体疾病与癫痫
Front Neurol. 2025 Jan 9;15:1499876. doi: 10.3389/fneur.2024.1499876. eCollection 2024.
3
-Ataxia as a Manifestation of Primary Coenzyme Q Deficiency.共济失调作为原发性辅酶Q缺乏症的一种表现形式。
Metabolites. 2022 Oct 8;12(10):955. doi: 10.3390/metabo12100955.
4
Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity.线粒体共济失调：分子分类与临床异质性
Neurol Int. 2022 Apr 2;14(2):337-356. doi: 10.3390/neurolint14020028.
5
Leigh Syndrome as a Phenotype of Near-Homoplasmic m.8344 A>G Variant in Children.Leigh综合征作为儿童近均质型m.8344 A>G变异的一种表型
Child Neurol Open. 2021 Mar 2;8:2329048X21991382. doi: 10.1177/2329048X21991382. eCollection 2021 Jan-Dec.
6
Mitochondrial DNA heteroplasmy in disease and targeted nuclease-based therapeutic approaches.疾病中的线粒体 DNA 异质性和基于靶向核酸酶的治疗方法。
EMBO Rep. 2020 Mar 4;21(3):e49612. doi: 10.15252/embr.201949612. Epub 2020 Feb 19.
7
Cerebellar atrophy is common among mitochondrial disorders.小脑萎缩在线粒体疾病中很常见。
Metab Brain Dis. 2018 Aug;33(4):987-988. doi: 10.1007/s11011-018-0238-y. Epub 2018 May 1.
8
Molecular Diagnosis of Myoclonus Epilepsy Associated with Ragged-Red Fibers Syndrome in the Absence of Ragged Red Fibers.无破碎红纤维情况下的肌阵挛性癫痫伴破碎红纤维综合征的分子诊断
Front Neurol. 2017 Sep 29;8:520. doi: 10.3389/fneur.2017.00520. eCollection 2017.
9
Posterior fossa involvement in the diagnosis of adult-onset inherited leukoencephalopathies.后颅窝受累在成人起病的遗传性白质脑病诊断中的作用
J Neurol. 2016 Dec;263(12):2361-2368. doi: 10.1007/s00415-016-8131-2. Epub 2016 Apr 28.
10
Magnetic resonance imaging differential diagnosis of brainstem lesions in children.儿童脑干病变的磁共振成像鉴别诊断
World J Radiol. 2016 Jan 28;8(1):1-20. doi: 10.4329/wjr.v8.i1.1.

本文引用的文献

1
Diffusion anisotropy measurement of brain white matter is affected by voxel size: underestimation occurs in areas with crossing fibers.脑白质的扩散各向异性测量受体素大小影响：在存在交叉纤维的区域会出现低估现象。
AJNR Am J Neuroradiol. 2007 Jun-Jul;28(6):1102-6. doi: 10.3174/ajnr.A0488.
2
Effects of number of diffusion gradient directions on derived diffusion tensor imaging indices in human brain.扩散梯度方向数量对人脑衍生扩散张量成像指标的影响。
AJNR Am J Neuroradiol. 2006 Sep;27(8):1776-81.
3
Apparent diffusion coefficient measurements of the middle cerebellar peduncle differentiate the Parkinson variant of MSA from Parkinson's disease and progressive supranuclear palsy.小脑中间脚的表观扩散系数测量可将多系统萎缩的帕金森变异型与帕金森病及进行性核上性麻痹区分开来。
Brain. 2006 Oct;129(Pt 10):2679-87. doi: 10.1093/brain/awl166. Epub 2006 Jun 30.
4
Diffusion anisotropy and diffusivity of white matter tracts within the temporal stem in Alzheimer disease: evaluation of the "tract of interest" by diffusion tensor tractography.阿尔茨海默病颞叶干内白质束的扩散各向异性和扩散率：通过扩散张量纤维束成像评估“感兴趣纤维束”
AJNR Am J Neuroradiol. 2006 May;27(5):1040-5.
5
Quantitative evaluation of the pyramidal tract segmented by diffusion tensor tractography: feasibility study in patients with amyotrophic lateral sclerosis.经扩散张量纤维束成像分割的锥体束定量评估：肌萎缩侧索硬化症患者的可行性研究
Radiat Med. 2005 May;23(3):195-9.
6
Clinical phenotype, prognosis and mitochondrial DNA mutation load in mitochondrial encephalomyopathies.线粒体脑肌病的临床表型、预后及线粒体DNA突变负荷
J Biomed Sci. 2002;9(6 Pt 1):527-33. doi: 10.1159/000064725.
7
Neurological mitochondrial cytopathies.神经线粒体细胞病
Neurol India. 2002 Jun;50(2):162-7.
8
SPECT findings in mitochondrial encephalomyopathy.线粒体脑肌病的单光子发射计算机断层扫描（SPECT）检查结果
J Nucl Med. 1998 Jun;39(6):961-4.
9
The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome.线粒体tRNALeu(UUR)第3243位核苷酸处的A到G转换可能导致肌阵挛性癫痫伴破碎红纤维综合征（MERRF综合征）。
J Neurol Neurosurg Psychiatry. 1996 Jul;61(1):47-51. doi: 10.1136/jnnp.61.1.47.
10
Proton MR spectroscopic characterization of differences in regional brain metabolic abnormalities in mitochondrial encephalomyopathies.线粒体脑肌病中脑局部代谢异常差异的质子磁共振波谱特征分析
Neurology. 1993 Dec;43(12):2484-90. doi: 10.1212/wnl.43.12.2484.

线粒体A8344G突变所致的肌阵挛性癫痫伴破碎红纤维患者中聚焦于脑干和小脑的临床及脑部磁共振成像特征

Clinical and brain MR imaging features focusing on the brain stem and cerebellum in patients with myoclonic epilepsy with ragged-red fibers due to mitochondrial A8344G mutation.

作者信息

Ito S, Shirai W, Asahina M, Hattori T

机构信息

Department of Neurology, Graduate School of Medicine, Chiba University, Chiba, Japan.

出版信息

AJNR Am J Neuroradiol. 2008 Feb;29(2):392-5. doi: 10.3174/ajnr.A0865. Epub 2007 Nov 7.

DOI:10.3174/ajnr.A0865
PMID:17989367
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8118999/
Abstract

We report 3 patients with myoclonic epilepsy with ragged-red fibers (MERRF) diagnosed by mitochondrial A8344G mutation. Cerebellar ataxia was the first symptom in all patients. Conventional brain MR imaging showed atrophy of the superior cerebellar peduncles and the cerebellum in all patients and brain stem atrophy in 2 patients. In diffusion tensor analysis, fractional anisotropy of the superior cerebellar peduncles was mildly decreased in 1 patient. There was a discrepancy between clinical disabilities (severe) and radiologic abnormalities (mild). This discrepancy and atrophy of the superior cerebellar peduncles and the cerebellum may be important findings suggesting a diagnosis of MERRF.

摘要

我们报告了3例经线粒体A8344G突变确诊的伴有破碎红纤维的肌阵挛性癫痫（MERRF）患者。小脑共济失调是所有患者的首发症状。常规脑磁共振成像显示，所有患者均有小脑上脚和小脑萎缩，2例患者有脑干萎缩。在扩散张量分析中，1例患者小脑上脚的分数各向异性轻度降低。临床残疾（严重）与影像学异常（轻度）之间存在差异。这种差异以及小脑上脚和小脑的萎缩可能是提示MERRF诊断的重要发现。