| Familial Creutzfeldt-Jakob disease with V180I mutation. | |
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MedLine Citation:
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PMID: 20592908 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Creutzfeldt-Jakob disease (CJD) is an uncommon neurodegenerative disorder with an incidence of 1 per 1000,000 per year typically characterized by rapidly progressive dementia, ataxia, myoclonus and behavioral changes. Genetic prion diseases, which develop due to a mutations in the prion protein gene (PRNP), account for an estimated 10 to 15% of all CJD cases. We report a 75-yr-old woman with familial CJD carrying a V180I mutation which features late onset, slow progression, no periodic sharp wave complexes on electroencephalography, and extensive cortical ribboning with spared the cerebellum and the medial occipital lobes posterior to the parieto-occipital sulcus on MRI. To our knowledge, this is the first documented case of a point mutation at codon 180 in South Korea. |
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Authors:
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Tae-Il Yang; Dae-Soo Jung; Bo-Young Ahn; Byung-Hoon Jeong; Han-Jeong Cho; Yong-Sun Kim; Duk L Na; Michael D Geschwind; Eun-Joo Kim |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2010-06-16 |
Journal Detail:
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Title: Journal of Korean medical science Volume: 25 ISSN: 1598-6357 ISO Abbreviation: J. Korean Med. Sci. Publication Date: 2010 Jul |
Date Detail:
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Created Date: 2010-07-01 Completed Date: 2010-09-29 Revised Date: 2011-06-17 |
Medline Journal Info:
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Nlm Unique ID: 8703518 Medline TA: J Korean Med Sci Country: Korea (South) |
Other Details:
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Languages: eng Pagination: 1097-100 Citation Subset: IM |
Affiliation:
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Department of Neurology, Pusan National University Hospital, Pusan National University School of Medicine and Medical Research Institute, Busan, Korea. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Aged Base Sequence Codon Creutzfeldt-Jakob Syndrome / genetics*, physiopathology DNA Mutational Analysis Female Humans Neuropsychological Tests Point Mutation* Prions / genetics* Republic of Korea |
| Grant Support | |
ID/Acronym/Agency:
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R01 AG031189-04/AG/NIA NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Codon; 0/Prions |
| Comments/Corrections | |
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