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Article

[A case of Creutzfeldt-Jakob disease with a double mutation (V180I/M232R) in the PRNP gene].

Rinsho shinkeigaku = Clinical neurology - 1 Jan 2015

Koh Kishin, Takaki Ryusuke, Miwa Michiaki, Nagasaka Takamura, Shindo Kazumasa, Takiyama Yoshihisa

Abstract excerpt

Creutzfeldt-Jakob disease (CJD) presents with rapidly progressive dementia associated with several symptoms including pyramidal, extrapyramidal, and cerebellar signs. In Japan, patients with PRNP gene mutations comprise 18.3% of CJD cases. In the present study, we report a 74-year-old man with a double mutation in the PRNP gene. He showed dysarthria, gait disturbance, and cognitive impairment. High signal...

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Identifiers

PMID: 26103817
DOI: 10.5692/clinicalneurol.cn-000646

Genes

PRNP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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