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

研究成果: Article査読

50 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)502-505
ページ数4
ジャーナルNeurology
62
3
DOI
出版ステータスPublished - 2004 2 10

ASJC Scopus subject areas

  • Clinical Neurology

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