Clinicopathological findings of a long-term survivor of V180I genetic Creutzfeldt-Jakob disease
Yuichi Hayashi, Yasushi Iwasaki, Masahiro Waza, Shinei Kato, Akio Akagi, Akio Kimura, Takashi Inuzuka, Katsuya Satoh, Tetsuyuki Kitamoto, Mari Yoshida, Takayoshi Shimohata
Abstract
gene analysis indicated a V180I mutation with methionine homozygosity at codon 129. The symptoms gradually progressed, and she died of aspiration pneumonia 61 months after symptom onset. Neuropathological examination revealed severe cerebral atrophy with moderate to severe gliosis, but the brainstem was well preserved. Various-sized and non-confluent vacuole type spongiform changes were extensively observed in the cerebral cortices. Prion protein (PrP) immunostaining revealed weak and synaptic-type PrP deposits in the cerebral cortices. We consider that long-term tube feeding, and very mild brainstem involvement may be associated with the long-term survival of our V180I gCJD patient.