Journal List > Dement Neurocogn Disord > v.11(2) > 1120805

Dement Neurocogn Disord. 2012 Jun;11(2):74-77. Korean.
Published online Jun 30, 2012.  https://doi.org/10.12779/dnd.2012.11.2.74
Copyright© 2012 Korean Dementia Association
A Case of Familial Creutzfeldt-Jacob Disease (V180I) Initially Presenting with Depression
JaeJeong Joo, M.D., YoungSoon Yang, M.D., Jin Ho Kang, M.D., Sun Hwa Lee, M.D., Sang Won Ha, M.D., Jung Ho Han, M.D., Eun Kyung Cho, M.D. and Doo Eung Kim, M.D.
Department of Neurology, Veterans hospital, Seoul Medical Center, Seoul, Korea.

Address for correspondence: Young Soon Yang, M.D. Department of Neurology, Veterans Hospital, Seoul Medical Center, 6-2 Dunchon 2-dong, Gangdong-gu, Seoul 134-791, Korea. Tel: +82-2-2225-4106, Fax: +82-2-2225-4105, Email: astro76@naver.com
Received Jun 12, 2012; Revised Jun 22, 2012; Accepted Jun 22, 2012.

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.


Abstract

Creutzfeldt-Jakob disease (CJD) is a degenerative neurological disorder that is incurable and invariably fatal. It is characterized by rapidly progressive dementia presenting with memory loss, personality changes and hallucinations. The symptoms of CJD are caused by progressive death of neurons in the central nervous system, which is associated with build-up of the abnormal prion proteins forming amyloids. In human, CJD can be acquired genetically through a mutation of the gene encoding for the prion protein (PRNP). This occurs in only 5-10% of all CJD cases. We report a 64-year old woman with CJD carrying a V180I mutation that features late onset, rapid progression, no periodic sharp wave complexes on electroencephalography, and cortical signal change and edema in bilateral frontotemporoparietal lobes and basal ganglia on MRI.

Keywords: Creutzfeldt-Jakob disease; Prion protein; V180I mutation

Figures


Fig. 1
Diffusion weighted MR images show cortical signal change and edema in both frontotemporoparietal lobes and both basal ganglia. Both cerebellum and occipital lobes are spared.
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Fig. 2
T2 weighted MRI also shows cortical signal change and edema in both frontotemporoparietal lobes and both basal ganglia. Both cerebellum and occipital lobes are spared.
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Fig. 3
Brain PET-CT shows marked hypometabolism in bilateral cerebral hemispheres with sparing of the occipital regions and primary motor sensory cortices.
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Fig. 4
MR spectroscopy shows decreased NAA peak and increased choline peak in both frontotemporoparietal lobes and both basal ganglia.
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Fig. 5
EEG shows intermittent theta-to-delta range slow waves in both cerebral hemispheres.
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Fig. 6
(A) DNA sequence at codon 180 of the PRNP gene from the patient (left) and a normal control (right). There is a point mutation causing a substitution of GTC(Val) by ATC(Ile) at codon 180. (B) Homozygosity for methionine at codon 129 and homozygosity for glutamate at codon 219 are also identified in the sequence analysis of the PRNP gene mutation of the patient.
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