Article
A patient with spastic paralysis finally diagnosed as V180I genetic Creutzfeldt-Jakob disease 9 years after onset.
Prion - 1 Dec 2020
Nomura Taichi, Iwata Ikuko, Naganuma Ryoji, Matsushima Masaaki, Satoh Katsuya, Kitamoto Tetsuyuki, Yabe Ichiro
Abstract excerpt
Genetic Creutzfeldt-Jakob disease (gCJD) with a mutation in codon 180 of the prion protein gene (V180I gCJD) is the most common form of gCJD in Japan, but only a few cases have been reported in Europe and the United States. It is clinically characterized by occurring in the elderly and presenting as slowly progressive dementia, although it generally shows less cerebellar and pyramidal symptoms than sporadic CJD....
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