Creutzfeldt–Jakob病

• 岩崎 靖

  愛知医科大学加齢医科学研究所神経病理部門

書誌事項

タイトル別名

• Creutzfeldt–Jakob disease

抄録

Prion disease, previously known as transmissible spongiform encephalopathy, is a fatal neurodegenerative disease affecting humans and other mammals. The word “prion”, coined in 1982 by Stanley B. Prusiner, stands for “proteinaceous infectious particle”. In humans, prion diseases are extremely rare with an annual mortality rate of 1 per million. Sporadic Creutzfeldt–Jakob disease (CJD) is the most common human prion disease identified worldwide, accounting for over 85% of cases of prion disease in humans. Sporadic CJD usually has a rapid clinical course and patients reach the akinetic mutism state several months after disease onset. Among Caucasians, about 90% of patients with sporadic CJD die within 1 year of disease onset ; however, Japanese patients generally have longer survival because of the management procedures followed in Japan. The crucial factor resulting in longer survival is thought to be the introduction of tube feeding. The clinicopathologic manifestations of sporadic CJD are influenced by several factors, particularly prion protein (PrP) gene polymorphism and prion strain (type 1/type 2) in the patients. According to the genotype of the methionine (M)/valine (V) polymorphism at codon 129 of the PrP gene and the physicochemical properties of type 1 PrP/type 2 PrP, sporadic CJD has been classified into six subtypes : MM1, MM2, MV1, MV2, VV1, and VV2. MM2–type sporadic CJD is further divided into two types on the basis of clinicopathological phenotype : MM2–cortical–type and MM2–thalamic–type. Comprehensive analyses of the clinical and neuropathologic findings as well as analyses of PrP gene and PrP type should be applied to better understand these atypical cases. The neuropathology of CJD typically shows a spongiform change, gliosis (hypertrophic astrocytosis in particular), neuropil rarefaction, neuron loss, and PrP deposition. In sporadic CJD variants, the MM1–type shows the typical clinicopathological findings of CJD, wherein the fine vacuole–type spongiform change with diffuse granular synaptic–type PrP deposition. MM2–cortical–type is relatively frequent in Japan, and shows atypical findings, which include a large confluent vacuole–type spongiform change and perivacuolar–type PrP deposition.

収録刊行物

• 神経治療学

  神経治療学 33 (3), 333-337, 2016

  日本神経治療学会

キーワード

• Creutzfeldt–Jakob disease
• myoclonus
• akinetic mutism state
• prion disease
• prion protein

詳細情報

• CRID: 1390282679611702272
• NII論文ID: 130005279092
• DOI: 10.15082/jsnt.33.3_333
• ISSN: 21897824
• ISSN: 09168443
• 本文言語コード: ja
• データソース種別:
  • JaLC
  • CiNii Articles
  • KAKEN
• 抄録ライセンスフラグ: 使用不可