Association of a polymorphism of the prion protein gene with age at onset and rate of cognitive decline in Alzheimer's disease

2000 ◽  
Vol 21 ◽  
pp. 176
Author(s):  
Valeria M. Casadei ◽  
Massimo Franceschi ◽  
Fabrizio Veglia ◽  
Armando Gavazzi ◽  
Elena Calabrese ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Cognitive Decline ◽  
Prion Protein ◽  
Protein Gene ◽  
Age At Onset ◽  
Prion Protein Gene

scholarly journals No association of prion protein gene polymorphisms with Alzheimer's disease in Korean population

2006 ◽  
Vol 38 (6) ◽  
pp. 727-731 ◽  
Author(s):  
Kyungsook Ahn ◽  
Eunkyung Kim ◽  
Young-A Kwon ◽  
Doh Kwan Kim ◽  
Jong-Eun Lee ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Prion Protein ◽  
Gene Polymorphisms ◽  
Protein Gene ◽  
Korean Population ◽  
Prion Protein Gene

Absence of association between codon 129/219 polymorphisms of the prion protein gene and Alzheimer's disease in Japan

2003 ◽  
Vol 54 (4) ◽  
pp. 553-554 ◽  
Author(s):  
Takuya Ohkubo ◽  
Yuji Sakasegawa ◽  
Takashi Asada ◽  
Toru Kinoshita ◽  
Yuichi Goto ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Prion Protein ◽  
Protein Gene ◽  
Prion Protein Gene ◽  
Codon 129

Prion protein gene M129 allele is a risk factor for Alzheimer’s disease

2006 ◽  
Vol 113 (11) ◽  
pp. 1747-1751 ◽  
Author(s):  
M. Gacia ◽  
K. Safranow ◽  
M. Styczyńska ◽  
K. Jakubowska ◽  
B. Pepłońska ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Risk Factor ◽  
Prion Protein ◽  
Protein Gene ◽  
Prion Protein Gene

P3-267: Polymorphisms of prion protein gene in Alzheimer's disease patients in a Brazilian sample

2008 ◽  
Vol 4 ◽  
pp. T600-T600
Author(s):  
Jerusa Smid ◽  
Michele C. Landemberger ◽  
Valeria S. Bahia ◽  
Vilma R. Martins ◽  
Ricardo Nitrini
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Prion Protein ◽  
Protein Gene ◽  
Prion Protein Gene ◽  
Brazilian Sample

Codon 129 polymorphism of prion protein gene in sporadic Alzheimer’s disease

2008 ◽  
Vol 15 (2) ◽  
pp. 173-178 ◽  
Author(s):  
A. Poleggi ◽  
A. Bizzarro ◽  
A. Acciarri ◽  
P. Antuono ◽  
S. Bagnoli ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Prion Protein ◽  
Protein Gene ◽  
Prion Protein Gene ◽  
Sporadic Alzheimer’S Disease ◽  
Codon 129

scholarly journals Creutzfeldt-Jakob disease associated with a missense mutation at codon 200 of the prion protein gene in Brazil

2007 ◽  
Vol 1 (2) ◽  
pp. 222-224
Author(s):  
Jerusa Smid ◽  
Vilma Regina Martins ◽  
Michele Christine Landemberger ◽  
Daniele Riva ◽  
Renato Anghinah ◽  
...  
Keyword(s):  
Cognitive Decline ◽  
Missense Mutation ◽  
Prion Protein ◽  
Clinical Picture ◽  
Protein Gene ◽  
Clinical Presentation ◽  
Prion Protein Gene ◽  
Periodic Activity ◽  
Jakob Disease ◽  
Sporadic Cjd

Abstract Genetic Creutzfeldt-Jakob disease (gCJD) represents less than 15% of CJD cases, and its clinical picture may be either indistinguishable from that of sporadic CJD (sCJD) or be atypical, usually with younger onset and longer duration. We report a case of 59-year old Brazilian man who presented rapidly progressive cognitive decline and cerebellar ataxia. EEG revealed periodic activity. A brother and a cousin of the patient had CJD. A point mutation at codon 200 (E200K) of the prion protein gene (PRNP) was found and death occurred 11 months after onset of symptoms. Autopsy was not performed. The clinical presentation of gCJD associated with E200K, which is the most frequent PRNP mutation, is quite similar to sCDJ. This is the first report of E200K mutation in Brazil, and it is possible that a more systematic search for its occurrence may show it to be relatively frequent in Brazil.

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