Clinical diagnosis and pathomechanism of prion diseases

Tsuyoshi Hamaguchi

Department of Neurology, Kanazawa Medical University

Human prion diseases are divided into three types:sporadic disease of unknown cause, hereditary with prion protein (PrP) gene mutation, and acquired from medical procedures or food.　Sporadic Creutzfeldt-Jakob disease (sCJD) is classified into 6 types according to polymorphism at codon 129 of PrP gene and types of abnormal PrP (PrP^Sc).　Among 6 types of sCJD, MM1 and MV1 show typical clinical features, and we can diagnose them using WHO criteria, but other types show atypical clinical course and are often difficult to diagnose.　We should develop methods of clinical diagnosis for atypical types of sCJD.

Address correspondence to Dr. Tsuyoshi Hamaguchi, Department of Neurology, Kanazawa Medical University (1-1 Daigaku, Uchinada-cho, Kahoku-gun, Ishikawa 920-0293, Japan)