Clinical,histopathological and genetic studies in a family with fatal familial insomnia |
| |
| Authors: | Xiao-Hong Shi Jun Han Jin Zhang Qi Shi Jian-Ming Chen Sheng-Li Xia Zhi-Qiang Xie Xiao-Jing Shen Bing Shan Yan-Jun Lei Song Shi Wei Zhou Bao-Yun Zhang Chen Gao Ying-Hui Liu Juan Song Yan-Jun Guo De-Xin Wang Bian-Li Xu Xiao-Ping Dong |
| |
| Institution: | 1. Department of Neurology, Henan Province People''s Hospital, Zhengzhou, China;2. State Key Laboratory for Infectious Disease Prevention and Control, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Ying-Xin Rd 100, Beijing 100052, China;3. Henan Provincial Center for Disease Control and Prevention, Zhengzhou, China;4. Department of Neurology, Beijing Friendship Hospital, Capital University of Medical Science, Yong-An Rd 95, Beijing 100050, China;1. School of Medicine, Universidad Espíritu Santo—Ecuador, Guayaquil, Ecuador;2. Gastroenterology Department, Vanderbilt University, Nashville, Tennessee;3. Sleep Disorders Center, Mayo Clinic College of Medicine, Jacksonville, Florida;1. Department of Pharmaceutical Care and Health Sciences, Faculty of Pharmaceutical Sciences, Fukuoka University, 8-19-1 Nanakuma, Jonan-ku, Fukuoka 814-0180, Japan;2. Department of Pharmaceutical and Health Care Management, Faculty of Pharmaceutical Sciences, Fukuoka University, 8-19-1 Nanakuma, Jonan-ku, Fukuoka 814-0180, Japan;1. Department of Neurology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA;2. Department of Neurosurgery, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA;1. Kansas City University of Medicine and Biosciences, Kansas City, MO;2. Department of Pathology, Ohio State University, Columbus, OH;3. Department of Pathology, University of Texas Health Science Center at Houston, Houston, TX;1. Department of Pediatrics, Tokyo Medical University, Tokyo, Japan;2. Department of Gastroenterology and Hepatology, Tokyo Medical University, Tokyo, Japan;3. Division of Infectious Diseases and Immunology, Saitama Children’s Medical Center, Saitama, Japan |
| |
| Abstract: | We compared clinical data from two related Chinese patients with fatal familial insomnia (FFI) and collected information about their pedigree. The clinical features in the two cases were similar and included initial progressive insomnia and sympathetic activation, which persisted throughout the clinical course. A total of 135 members of this family, across seven generations, were retrospectively investigated. Eleven family members, including the two FFI cases, were found to have died with similar neurological problems. Analysis of PRNP in 32 family members revealed eleven carrying the D178N allele, including the two FFI patients. Spongiform degeneration in brains was not found, but gliosis was obvious in the thalamus of the two cases at postmortem. Proteinase K-resistant prion protein (PrP) was not found in proband's brain by immunohistochemistry, but observed in some areas of brain for both cases by PrP-specific Western blot. Investigation of the pedigree has led to the identification of an additional 9 family members who had similar clinical symptoms and 9 currently healthy individuals with the D178N mutation. |
| |
| Keywords: | |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
