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J Korean Med Sci. 2010 Jul;25(7):1097-100. doi: 10.3346/jkms.2010.25.7.1097. Epub 2010 Jun 16.

Familial Creutzfeldt-Jakob disease with V180I mutation.

Author information

1
Department of Neurology, Pusan National University Hospital, Pusan National University School of Medicine and Medical Research Institute, Busan, Korea.

Abstract

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.

KEYWORDS:

Codon 180; Creutzfeldt-Jakob Syndrome; Prion Protein Gene

PMID:
20592908
PMCID:
PMC2890893
DOI:
10.3346/jkms.2010.25.7.1097
[Indexed for MEDLINE]
Free PMC Article
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