Clinical features of Creutzfeldt-Jakob disease with V180I mutation

K. Jin, Y. Shiga, S. Shibuya, K. Chida, Y. Sato, H. Konno, K. Doh-Ura, T. Kitamoto, Y. Itoyama

Research output: Contribution to journalArticlepeer-review

55 Citations (Scopus)


The authors describe the clinical features of Creutzfeldt-Jakob disease (CJD) with the causative point mutation at codon 180. The symptoms never started with visual or cerebellar involvement. The patients showed slower progression of the disease compared with sporadic CJD. They never showed periodic sharp and wave complexes in EEG. MRI demonstrated remarkable high-intensity areas with swelling in the cerebral cortex except for the medial occipital and cerebellar cortices. These characteristic MRI findings are an important clue for an accurate premortem diagnosis.

Original languageEnglish
Pages (from-to)502-505
Number of pages4
Issue number3
Publication statusPublished - 2004 Feb 10


Dive into the research topics of 'Clinical features of Creutzfeldt-Jakob disease with V180I mutation'. Together they form a unique fingerprint.

Cite this