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  • 标题:A Case of Familial Creutzfeldt-Jacob Disease (V180I) Initially Presenting with Depression
  • 本地全文:下载
  • 作者:Joo, JaeJeong ; Yang, YoungSoon ; Kang, Jin Ho
  • 期刊名称:Dementia and Neurocognitive Disorders
  • 印刷版ISSN:1738-1495
  • 出版年度:2012
  • 卷号:11
  • 期号:2
  • 页码:74-77
  • DOI:10.12779/dnd.2012.11.2.74
  • 语种:Korean
  • 出版社:KoreaMed Synapse
  • 摘要:

    Creutzfeldt-Jakob disease (CJD) is a degenerative neurological disorder that is incurable and invariably fatal. It is characterized by rapidly progressive dementia presenting with memory loss, personality changes and hallucinations. The symptoms of CJD are caused by progressive death of neurons in the central nervous system, which is associated with build-up of the abnormal prion proteins forming amyloids. In human, CJD can be acquired genetically through a mutation of the gene encoding for the prion protein (PRNP). This occurs in only 5-10% of all CJD cases. We report a 64-year old woman with CJD carrying a V180I mutation that features late onset, rapid progression, no periodic sharp wave complexes on electroencephalography, and cortical signal change and edema in bilateral frontotemporoparietal lobes and basal ganglia on MRI.

  • 关键词:Creutzfeldt-Jakob Disease; Prion protein; V180I mutation
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