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

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.