Clinical features of genetic Creutzfeldt-Jakob disease with V180I mutation in the prion protein gene

OBJECTIVES: Genetic Creutzfeldt-Jakob disease (CJD) due to V180I mutation in the prion protein gene (PRNP) is of great interest because of the differences from sporadic CJD and other genetic prion diseases in terms of clinical features, as well as pathological and biochemical findings. However, few...

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Hauptverfasser: Qina, Temu, Sanjo, Nobuo, Hizume, Masaki, Higuma, Maya, Tomita, Makoto, Atarashi, Ryuichiro, Satoh, Katsuya, Nozaki, Ichiro, Hamaguchi, Tsuyoshi, Nakamura, Yosikazu, Kobayashi, Atsushi, Kitamoto, Tetsuyuki, Murayama, Shigeo, Murai, Hiroyuki, Yamada, Masahito, Mizusawa, Hidehiro
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMJ Publishing Group 2014
Schlagworte:
Neurology
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4025468/
https://ncbi.nlm.nih.gov/pubmed/24838726
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bmjopen-2014-004968
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