Retrograde nerve growth factor signaling abnormalities and the pathogenesis of familial dysautonomia

作     者：Soumitra Ghosh Lin Li Warren G.Tourtellotte Soumitra Ghosh;Lin Li;Warren G.Tourtellotte

作者机构：Department of Pathology and Laboratory MedicineCedars-Sinai Medical CenterLos AngelesCAUSA Department of NeurologyDepartment of NeurosurgeryDepartment of Biomedical SciencesCedars-Sinai Medical CenterLos AngelesCAUSA 

出 版 物：《Neural Regeneration Research》 (中国神经再生研究（英文版）)

年 卷 期：2021年第16卷第9期

页      面：1795-1796页

核心收录：

学科分类：0710[理学-生物学] 1002[医学-临床医学] 1001[医学-基础医学(可授医学、理学学位)] 100204[医学-神经病学] 10[医学] 

基　　金：NCRR NIH HHS [K26 RR026099] Funding Source: Medline NICHD NIH HHS [R21 HD063078] Funding Source: Medline NIH HHS [K26 OD010945] Funding Source: Medline NINDS NIH HHS [R56 NS089626, R01 NS095894] Funding Source: Medline 

主　　题：al. pathogenesis impairment 

摘      要：Familial dysautonomia(FD,OMIM 223900;also known as HSAN III or Riley-Day syndrome) is the most prevalent form of hereditary sensory and autonomic neuropathy(HSAN;Axelrod et al., 1974). Patients suffering from autonomic and sensory nervous system impairment have no available effective treatment and the average age of death is approximately 24 years.