Creutzfeldt–Jakob disease (CJD) is a fatal neurodegenerative disease characterized
by accumulation of an abnormal isoform of prion protein. More than 30 polymorphisms
and mutations of the prion protein gene (PRNP) are involved in the development of genetic CJD [
[1]
]. A substitution from methionine to arginine at the PRNP codon 232 (M232R) is the fourth most frequent mutation in Japanese genetic prion
disease (approximately 15%) [
[2]
]. However, the pathogenic roles of M232R substitution for CJD have been controversial
[
[3]
], and all reported CJD patients with M232R mutation carry the heterozygous substitution
[
[2]
]. Here, we describe the first CJD patient with homozygous M232R mutation, and our
observations suggest pathogenicity of the mutation for CJD.Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Journal of the Neurological SciencesAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Prion disease genetics.Eur J Hum Genet. 2006; 14: 273-281
- Prospective 10-year surveillance of human prion diseases in Japan.Brain. 2010; 133: 3043-3057
- Prion protein gene M232R variation is probably an uncommon polymorphism rather than a pathogenic mutation.Brain. 2012; 135 ([author reply e10]): e209
- Two different clinical phenotypes of Creutzfeldt–Jakob disease with a M232R substitution.J Neurol. 2007; 254: 1509-1517
- An autopsied case of Creutzfeldt–Jakob disease with mutation in the prion protein gene codon 232 and type 1 + 2 prion protein.Neuropathology. 2013; 33: 568-575
- Creutzfeldt–Jakob disease: patterns of worldwide occurrence and the significance of familial and sporadic clustering.Ann Neurol. 1979; 5: 177-188
- Diffusion-weighted MRI hyperintensity patterns differentiate CJD from other rapid dementias.Neurology. 2011; 76: 1711-1719
- A patient with dementia with Lewy bodies and codon 232 mutation of PRNP.Neurology. 2002; 59: 1619-1621
- Mutation in the prion protein gene at codon 232 in Japanese patients with Creutzfeldt–Jakob disease: a clinicopathological, immunohistochemical and transmission study.Acta Neuropathol. 1996; 92: 441-446
Article info
Publication history
Published online: March 19, 2015
Accepted:
March 11,
2015
Received in revised form:
March 5,
2015
Received:
December 31,
2014
Identification
Copyright
© 2015 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
