This is the largest study on FFI patients in China, as well as in Asia, which is helpful to enrich the knowledge of FFI. The median survival was 10 months varying from 5 to 30 months. 126 individual from 14 families conducted prion gene (PRNP) sequencing and 36 asymptomatic carriers of D178N mutation and M129M homozygous were identified, among them 7 mutation carriers from 5 families were in the parent-generation and 5 from 3 families were elder siblings of the probands. Sporadic Creutzfeldt-Jakob disease (sCJD) associated abnormalities on MRI were recorded only in 6 patients with the onset-age ≥ 50 y. 37.9% cases were cerebrospinal fluid (CSF) 14-3-3 positive and 25% were CSF RT-QuIC positive. 85% patients showed hypertension and 57.5% had obvious weight loss. Sympathetic symptoms, such as excessive sweating, salivation and minor evening pyrexia, were commonly noticed. Sleeping disturbances, mental problems and recognition disorders were most common foremost symptoms, in which sleeping disturbances and recognition disorders were significantly frequent in the patients with positive family history and those with the onset age ≥ 50 y, respectively. 45% cases displayed clinical symptoms less than 50 y and 32.5% cases did not have definitely disease family history. The median onset age was 51 year-old (from 19-70 y) and the gender ratio was 1:1.5 (M:F). Despite of the distribution in 12 provinces, apparently more cases located in Henan and Guangdong provinces. In this study, the epidemiological, clinical, laboratory and genetic features of 40 Chinese FFI patients were systematically analyzed. National Institute for Viral Disease Control and Prevention, Chinese Center for Disease, Control and Prevention, Chang-Bai Rd 155, Beijing 102206, Chinaįatal familial insomnia (FFI) is one of the subtypes of human genetic prion diseases and is the most frequently identified genetic prion disease in China. State Key Laboratory for Infectious Disease Prevention and Control, Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases (Zhejiang University), National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, China *Corresponding Author: Xiao-Ping Dong Qi Shi, Kang Xiao, Wei Zhou, Jing Wang, Cao Chen, Chen Gao and Xiao-Ping Dong *
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