Familial Creutzfeldt–Jakob disease with a mutation at codon 180 presenting with an atypical phenotype
| Autor: | Yong-Sun Kim, Seo-Young Lee, Han-Jeong Cho, Sung Hun Kim, Kyoung-Chan Choi, Seok-Joo Park, Yong-Chul Jeon, Min-Ju Yeo, Seung-Hwan Lee |
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| Rok vydání: | 2013 |
| Předmět: |
Prions
animal diseases Disease Creutzfeldt-Jakob Syndrome Physiology (medical) mental disorders Humans Medicine Atypical phenotype Prion protein Codon Aged Genetics Sporadic CJD business.industry Valine General Medicine Virology Phenotype nervous system diseases Neurology Mutation Mutation (genetic algorithm) Familial Creutzfeldt-Jakob Female Surgery Neurology (clinical) business |
| Zdroj: | Journal of Clinical Neuroscience. 20:180-182 |
| ISSN: | 0967-5868 |
| DOI: | 10.1016/j.jocn.2012.01.044 |
| Popis: | 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 the exclusive determinant of the phenotype. |
| Databáze: | OpenAIRE |
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