Article
Comparison of the pathologic and pathogenic features in six different regions of postmortem brains of three patients with fatal familial insomnia.
International journal of molecular medicine - 1 Jan 2013
Xie Wu-Ling, Shi Qi, Xia Sheng-Li, Zhang Bao-Yun, Gong Han-Shi, Wang Shao-Bin, Xu Yin, Guo Yan, Tian Chan, Zhang Jin, Xu Bian-Li, Liu Yong, Dong Xiao-Ping
Abstract excerpt
Fatal familial insomnia (FFI) is an autosomal dominant prion disease clinically characterized by rapidly progressive insomnia, prominent autonomic alterations and behavioral disturbance. The D178N mutation of the prion protein gene (PRNP) on chromosome 20 in conjunction with methionine at codon 129 is a molecular feature. Although the neuropathological...
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