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Case Reports
. 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

Tae-Il Yang  1 , Dae-Soo Jung, Bo-Young Ahn, Byung-Hoon Jeong, Han-Jeong Cho, Yong-Sun Kim, Duk L Na, Michael D Geschwind, Eun-Joo Kim
Affiliations
Case Reports

Familial Creutzfeldt-Jakob disease with V180I mutation

Tae-Il Yang et al. J Korean Med Sci. 2010 Jul.

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.

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Figures

Fig. 1
Fig. 1
Diffusion weighted (upper row) and FLAIR (lower row) axial brain MRIs show high signal intensity in diffuse cerebral cortex with dominant involvement of right hemisphere. Cerebellum and medial occipital lobes posterior to the parieto-occipital sulcus indicated by arrows are spared.
Fig. 2
Fig. 2
(A) DNA sequence at codon 180 of PRNP gene from the patient (left) and a control (right). The Letter "N" indicates a point mutation causing a substitution of GTC (Val) by ATC (Ile) at codon 180. Sequence in a control is homozygous for GTC (Val) at codon 180. (B) Homozygosity for methionine at codon 129 and (C) homozygosity for glutamate at codon 219 are also identified in the sequence analysis of PRNP gene mutation of the patient.
See this image and copyright information in PMC

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