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Article

Familial Creutzfeldt-Jakob disease with a mutation at codon 180 presenting with an atypical phenotype.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Jan 2013

Yeo Min-Ju, Lee Seung-Hwan, Lee Seo-Young, Jeon Yong-Chul, Park Seok-Joo, Cho Han-Jeong, Choi Kyoung-Chan, Kim Yong-Sun, Kim Sung-Hun

Abstract excerpt

The clinical features of familial Creutzfeldt-Jakob disease (fCJD) with a mutation at codon 180 (V180I) are less typical than those of patients with sporadic CJD. We describe a patient with pathologically confirmed CJD carrying the V180I mutation who had atypical cerebrospinal fluid and electroencephalography findings. Similar to other prion protein mutations, this report suggests that the V180I mutation is not...

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PMID: 22999564
DOI: 10.1016/j.jocn.2012.01.044

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