Dement Neurocogn Disord.  2017 Sep;16(3):91-93. 10.12779/dnd.2017.16.3.91.

Familial Creutzfeldt-Jakob Disease with M232R Mutation Progressed Slowly like Alzheimer's Disease

• Lee S
• Bae HW
• Yang Y

• KMID: 2442823
• DOI: http://doi.org/10.12779/dnd.2017.16.3.91

Abstract

No abstract available.

MeSH Terms

Alzheimer Disease*
Creutzfeldt-Jakob Syndrome*

Figure

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  Fig. 1 Initial DWI and 18F-fluorodeoxyglucose PET CT. A: DWI demonstrates cortical high-signals. B: PET study shows diffuse hypometabolism of bilateral frontoparietal lobes. DWI: diffusion weighted image, PET: positron emission tomography.

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  Fig. 2 DNA sequence at codon 232 of the prion protein gene. There is a point mutation causing a substitution of ATG (Methionine) by AGC (Arginine) at codon 232.

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  Fig. 3 DWI (A) and 18F-fluorodeoxyglucose PET CT (B) obtained 26 months later. Compared with previous DWI and PET CT, there are no interval change. DWI: diffusion weighted image, PET: positron emission tomography.

Reference

1. Choi BY, Kim SY, Seo SY, An SS, Kim SY, Park SE, et al. Mutations at codons 178, 200-129, and 232 contributed to the inherited prion diseases in Korean patients. BMC Infect Dis. 2009; 9:132.

2. Shiga Y, Satoh K, Kitamoto T, Kanno S, Nakashima I, Sato S, et al. Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution. J Neurol. 2007; 254:1509–1517.