Studies on codon 129 genotype of PrP gene and phenotypic features of sporadic Creutzfeldt-Jakob disease in China
- VernacularTitle:散发性克-雅病PrP基因129密码子基因型与临床表型14例研究
- Author:
Jiexu ZHAO
;
Shihe LIN
;
Shanji NAN
;
Al ET
- Publication Type:Journal Article
- Keywords:
Creutzfeldt Jakob syndrome;
PrPSc proteins;
Prions;
Genotype
- From:
Chinese Journal of Neurology
2001;0(01):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the relationship between polymorphism at codon 129 of prion protein gene and the phenotypic features of sporadic Creutzfeldt Jakob disease(CJD)in China Methods The prion protein genotype of 14 cases with sporadic CJD were tested and clinical data were analysed Results (1) 8 cases with definite CJD and 6 cases with probable CJD were diagnosed depending on diagnostic criteria (2) Of the 8 definite CJD cases,6 were homozygous for methionine at codon 129, 2 cases were methionine/valine at codon 129,while all the probable CJD cases were methionine homozygotes (3) There were four group symptoms at onset in 12 cases with methionive homozygous at codon 129: cognitive and mental impairment as first symptom in 8 cases,ataxia in 1 case,blurred sight in 2 cases,myoclonus in 1 case;during illness there were epilepsy in 5 cases,myoclonus in 6 cases,blurred sight in 6 cases,PSD in 7 cases The longest illness duration was 20 months,and the shortest was two and a half months (4) Ataxia was the first symptoms in 2 cases with metionine/ valine at codon 129 The illness duration was 6 and 20 months,and there was no PSD (5) Spongyform degeneration in different degree and neuronal loss were seen in the 8 cases with definite CJD,synaptic deposition of abnormal PrP was shown in 5 cases Conclusions (1)Of the 14 cases with CJD, homozygosity for methionine at condon 129 of the prion protein gene was shown in 12 cases,but there was distinct phenotypic variant (2)The frequence of methionine and valine of 129 allilic distribution for sCJD was similar to that in Japan,and different from that in Western cases There was no sCJD case with valine homozygous genotype at codon 129 in our study
