更新于：2024-11-01

Charcot-Marie-Tooth Disease, Axonal, Type 2A2

轴索型Charcot-Marie-Tooth病2A2型

更新于：2024-11-01

基本信息

别名

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2、CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)、CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A2

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简介-

关联

项与轴索型Charcot-Marie-Tooth病2A2型相关的临床试验

JPRN-UMIN000015184 / Completed临床2期IIT

Phase II study of pre and post operative combination chemotherapy using carboplatin and dose dense paclitaxel (dose dense TC therapy) for locally advanced cervical cancer - SGSG016 study

开始日期2014-09-18

申办/合作机构-

NCT05902351 / RecruitingN/A

Global Registry for Inherited Neuropathies Natural History Study for Charcot Marie Tooth Disease

The goal of this Natural History Study for Charcot-Marie-Tooth is to acquire, record, and analyze patient-reported data and associated genetic reports, Electronic Health Records (EHRs) and clinical notes to identify the burden, diagnostic journey, and prevalence of disease that will aid scientists in their work toward finding a cure.
Participants will be asked to complete a Natural History Survey.

开始日期2013-11-01

申办/合作机构

Hereditary Neuropathy Foundation, Inc.

100 项与轴索型Charcot-Marie-Tooth病2A2型相关的临床结果

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100 项与轴索型Charcot-Marie-Tooth病2A2型相关的转化医学

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0 项与轴索型Charcot-Marie-Tooth病2A2型相关的专利（医药）

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项与轴索型Charcot-Marie-Tooth病2A2型相关的文献（医药）

2023-05-11·[Zhonghua yan ke za zhi] Chinese journal of ophthalmology

[Optic atrophy in a patient with axonal Charcot-Marie-Tooth disease 2A2A due to MFN2 gene mutations].

Article

作者: Sun, M M ; Pan, C Y ; Bai, W H ; Wei, S H ; Zhou, H F

1例27岁双眼渐进性视力下降男性患者，表现为双眼黄斑区节细胞受损，全身伴四肢肌萎缩改变，完善线粒体全外显子基因检测，诊断为轴突型腓骨肌萎缩症2A2A型。该病临床尚无有效治疗方法，营养线粒体可能缓解临床症状。.

2022-07-01·Stem Cell Research4区 · 医学

Generation of a human induced pluripotent stem cell (iPSC) line (JUCTCi019-A) from a patient with Charcot-Marie-Tooth disease type 2A2 (CMT2A2) due to a heterozygous missense substitution c.2119C > T (p.Arg707Trp) in MFN2 gene

4区 · 医学

ArticleOA

作者: A Ismail, Mohammad ; Hadidi, Sabal Al ; Awidi, Abdalla ; Muamar, Ahmed S H ; Sallam, Malik ; Hassona, Yazan ; Ali, Dema ; Abdulelah, Ahmed A ; Masri, Amira ; Barham, Raghda ; Madadha, Adan ; Ababneh, Nidaa A ; Al-Kurdi, Ban

Charcot-Marie-Tooth disease (CMT) is an inherited neurological disorder characterized by the progressive damage of the peripheral nerves. We generated a human induced pluripotent stem cell (iPSC) line JUCTCi019-A using dermal fibroblasts-derived from a 50-year-old CMT2A2 patient carrying a heterozygous missense substitution c.2119C > T (p.Arg707Trp) in the MFN2 gene. Fibroblasts were reprogrammed by Sendai viruses encoding for the reprogramming factors: OCT4, SOX2, KLF4 and c-MYC. Characterization showed normal iPSC morphology and karyotype, expression of pluripotency markers and differentiation into three-germ layers. This iPSC line represents an ideal source for disease modelling and drug development of CMT2A2 disease.

2020-06-01·Molecular Case Studies

Early-onset cerebellar ataxia in a patient with CMT2A2

Article

作者: Madrid, Ricardo ; Korosh, William ; Haworth, Andrea ; Guariglia, Sara R ; Gavin, Maureen ; Lyon, Gholson J

A 9-yr 8-mo-old right-handed female presented with a history of gait difficulties, which first became apparent at age 9 mo of age, along with slurred speech and hand tremors while holding a tray. Her past medical history was significant for global developmental delay, and she was attending fourth grade special education classes. On examination, she had an ataxic gait, dysarthria, absent deep tendon reflexes, and flexor plantar responses. There were no signs of optic atrophy or hearing loss. Nerve conduction studies were consistent with an axonal neuropathy. A fascicular sural nerve biopsy showed a marked decrease of myelinated fibers larger than 6 µm in diameter as compared with an age-matched control. By electron microscopy, clusters of degenerating axonal mitochondria in both myelinated and unmyelinated fibers were frequently found. Whole-exome sequencing revealed a heterozygous c.314C > T (p.Thr105Met) missense variant in MFN2 in the patient but not in her mother. The father was unavailable for testing. The phenotypes with MFN2 variants can be quite variable, including intellectual disability, optic atrophy, auditory impairment, spinal atrophy with or without hydromyelia, and hydrocephalus. We report here that early onset ataxia with intellectual disability can also be associated with MFN2-related Charcot–Marie–Tooth, Type 2A2A diagnosis, the most common type of autosomal dominant axonal neuropathy.