A website for the inherited neuropathies

遗传性神经病网站

• 批准号: 7942663
• 负责人: STEVEN Simon Scherer
• 金额: $ 16.35万
• 依托单位: WAYNE STATE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-09-30 至 2014-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7942663
• 关键词: Address; Affect; Age; Amaze; Charcot-Marie-Tooth Disease; Classification; Clinical; Databases; Diagnosis; Disease; Electronic Mail; Electrophysiology (science); Epidemiology; Eponyms; Genes; Genetic; Genetic screening method; Goals; Grant; Health Professional; Inherited; Internet; Life; Link; Mutation; Neurons; Neuropathy; Patients; Publishing; Research Personnel; Schwann Cells; Series; Services; Sorting - Cell Movement; Syndrome; United Kingdom; Update; essays; hereditary neuropathy; interest; web site

Charcot-Marie-Tooth disease (CMT) is the eponym for all inherited neuropathies that are not part of a syndrome. CMT is a relatively common disease, affecting ~1:2500 people (Skre, 1974), but the genetic causes of CMT are increasingly diverse, with more than 30 genes identified to date. CMT1, CMT2, and CMT4 collectively constitute the majority of CMT cases, and are the focus of this grant. Mutations that primarily affect myelinating Schwann cells cause demyelinating forms of CMT; mutations that primarily affect neurons cause the "axonal" forms of CMT. The pace of progress is truly amazing, but this has created a void between what is known and what most health care professionals know about CMT. To address this problem, I will develop and maintain a website that incorporates the following features:

Charcot-Marie-Tooth病(CMT)是所有不属于综合征的遗传性神经疾病的代名词。CMT是一种相对常见的疾病，影响约1：2500人(Skre，1974)，但CMT的遗传原因日益多样化，迄今已发现30多个基因。CMT1、CMT2和CMT4共同构成了CMT病例的大多数，并且是本次拨款的重点。主要影响髓鞘雪旺细胞的突变导致脱髓鞘形式的CMT；主要影响神经元的突变导致“轴突”形式的CMT。进展的速度确实令人惊叹，但这在人们所知的和大多数卫生保健专业人员对CMT的了解之间创造了一个空白。为了解决这个问题，我将开发和维护一个包含以下功能的网站：