Inherited Neurophathies Consortium (RDCRC)

Charcot玛丽牙病（CMT）是遗传性周围神经病变的代名词。这些是 是最常见的遗传性神经肌肉疾病之一，大约每2500人中就有1人患病。 超过30个基因的突变导致CMT，超过40个额外基因的位点已经被发现。 鉴定CMT可分为三个特定组：（1）CMT 1，显性遗传性脱髓鞘 神经病;（2）CMT 2，显性遗传性轴突神经病;和（3）CMT 4，隐性遗传性 神经病遗传上真实的动物模型存在许多形式的CMT，并提供了数据 迫使目前正在进行的CMT 1A的人体临床试验。尽管取得了这些进展，但 有效的治疗方法可用于任何形式的CMT，自然史数据仅可用于大多数CMT。 常见类型（CMT 1A和CMT 1X），以及许多潜在的基因型-表型相关性仍然存在 未知为了解决这些问题，我们创建了遗传性神经病联盟（HNC）， 在CMT方面具有专业知识的临床研究人员的集合。HNC内的站点包括韦恩 州立大学、伦敦国立神经病学/神经外科医院、 罗切斯特/肌肉研究小组（MSG），宾夕法尼亚大学/费城儿童医院 （CHOP）和佛罗里达的迈阿密大学。将开展两个试点项目。Gyula Acsadi博士， 华盛顿州立大学将在来自伦敦的Muntoni博士和Dr. 我是CHOP的Finkel谢勒博士将为患者和研究人员开发一个OMIM模式的网站 对CMT感兴趣将开展两项临床研究项目。来自WSU的Shy博士将进行一项 CMT 1B、CMT 2A和CMT 4A的自然史分析。来自迈阿密的Zuchner博士和万斯博士将表演 寻找各种形式CMT的修饰基因。来自伦敦的玛丽赖利博士将领导一个培训项目 为博士后研究员和初级教员，将涉及所有网站，包括味精。博士 来自罗切斯特的McDermott将担任HNC生物统计学家。Charcot玛丽牙协会， 联合王国CMT和联合国国家导弹防御系统各组织将与国家委员会进行广泛的互动。

Charcot Marie Tooth disease (CMT) is the eponym for heritable peripheral neuropathy. These are among the most common inherited neuromuscular diseases, affecting approximately 1 in 2500 people. Mutations in more than 30 genes cause CMT, and loci for more than 40 additional genes have been identified. CMT is separable into three specific groups: (1) CMT1, dominantly inherited demyelinating neuropathies; (2) CMT2, dominantly inherited axonal neuropathies; and (3) CMT4, recessively inherited neuropathies. Genetically authentic animal models exist for many forms of CMT, and have provided the data compelling the clinical trials in humans that are currently underway for CMT1 A. Despite these advances, no effective therapies are available for any form of CMT, natural history data are available for only the most common types (CMT1A and CMT1X), and many potential genotype-phenotype correlations remain unknown. To address these issues, we have created the Hereditary Neuropathy Consortium (HNC), a collection of clinical researchers with demonstrated expertise in CMT. Sites within the HNC include Wayne State University, the National Hospital for Neurology/Neurosurgery in London, the University of Rochester/Muscle Study Group (MSG), the University of Pennsylvania/Children's Hospital of Philadelphia (CHOP), and the University of Miami, Florida. Two Pilot Projects will be performed. Dr. Gyula Acsadi from WSU will develop a Pediatric Scoring System for CMT patients, aided by Dr. Muntoni from London and Dr. Finkel from CHOP. Dr. Scherer will develop a Website patterned after OMIM for patients and researchers interested in CMT. Two Clinical Research Projects will be performed. Dr. Shy, from WSU, will undertake a natural history analysis of CMT1B, CMT2A, and CMT4A. Drs Zuchner and Vance, from Miami, will perform a search for modifier genes in various forms of CMT. Dr. Mary Reilly from London will lead a training program for postdoctoral fellows and junior faculty members that will involve all sites including the MSG. Dr. McDermott, from Rochester, will be the HNC Biostatistician. The Charcot Marie Tooth Association (CMTA), CMT United Kingdom (CMTUK) and TREAT-NMD organizations will interact extensively with the HNC.