Literature DB >> 19830016

Human Prion disease with a T188K mutation in Chinese: a case report.

Qi Shi1, Chen Gao, Wei Zhou, Bao-Yun Zhang, Chan Tian, Jian-Ming Chen, Hui-Ying Jiang, Jun Han, Xiao-Ping Dong.   

Abstract

Inherited Prion diseases are characterized by mutations in the PRNP gene predispose to disease by causing the expression of abnormal PrP protein. We report a 58-year-old Chinese female with mutation in codon 188 (T188K) of the PRNP gene, while the codon 129 was a methionine homozygous genotype. The patient displayed 4-year long slowly progressive sleeping disturbance and rapid exacerbation of neurological status after other neurological manifestations appeared. Cerebral spinal fluid 14-3-3 protein was positive.

Entities:  

Year:  2009        PMID： 19830016      PMCID： PMC2740053          DOI： 10.1186/1757-1626-2-7820

Source DB:  PubMed          Journal:  Cases J        ISSN： 1757-1626


  6 in total

Review 1.  Clinical aspects of human spongiform encephalopathies, with the exception of iatrogenic forms.

Authors:  J P Brandel
Journal:  Biomed Pharmacother       Date:  1999       Impact factor: 6.529

2.  High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.

Authors:  U Finckh; T Müller-Thomsen; U Mann; C Eggers; J Marksteiner; W Meins; G Binetti; A Alberici; C Hock; R M Nitsch; A Gal
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

3.  Cellular phenotyping of secretory and nuclear prion proteins associated with inherited prion diseases.

Authors:  Holger Lorenz; Otto Windl; Hans A Kretzschmar
Journal:  J Biol Chem       Date:  2001-12-27       Impact factor: 5.157

4.  Molecular genetics of human prion diseases in Germany.

Authors:  O Windl; A Giese; W Schulz-Schaeffer; I Zerr; K Skworc; S Arendt; C Oberdieck; M Bodemer; S Poser; H A Kretzschmar
Journal:  Hum Genet       Date:  1999-09       Impact factor: 4.132

5.  Novel prion protein gene mutation in an octogenarian with Creutzfeldt-Jakob disease.

Authors:  S Collins; A Boyd; A Fletcher; K Byron; C Harper; C A McLean; C L Masters
Journal:  Arch Neurol       Date:  2000-07

Review 6.  [Familial prion disease (GSS, familial CJD, FFI)].

Authors:  Hitoshi Arata; Hiroshi Takashima
Journal:  Nihon Rinsho       Date:  2007-08
  6 in total
  5 in total

1.  The Levels of Tau Isoforms Containing Exon-2 and Exon-10 Segments Increased in the Cerebrospinal Fluids of the Patients with Sporadic Creutzfeldt-Jakob Disease.

Authors:  Cao Chen; Wei Zhou; Yan Lv; Qi Shi; Jing Wang; Kang Xiao; Li-Na Chen; Bao-Yun Zhang; Xiao-Ping Dong
Journal:  Mol Neurobiol       Date:  2015-07-19       Impact factor: 5.590

2.  The epidemiological, clinical, and laboratory features of sporadic Creutzfeldt-Jakob disease patients in China: surveillance data from 2006 to 2010.

Authors:  Chen Gao; Qi Shi; Chan Tian; Cao Chen; Jun Han; Wei Zhou; Bao-Yun Zhang; Hui-Ying Jiang; Jin Zhang; Xiao-Ping Dong
Journal:  PLoS One       Date:  2011-08-31       Impact factor: 3.240

3.  A Chinese Creutzfeldt-Jakob disease patient with E196K mutation in PRNP.

Authors:  Qi Shi; Cao Chen; Xiao-Nan Song; Chen Gao; Chan Tian; Wei Zhou; Xu-Hua Song; Lai-Shun Yao; Jun Han; Xiao-Ping Dong
Journal:  Prion       Date:  2011-04-01       Impact factor: 3.931

4.  Profiles of 14-3-3 and Total Tau in CSF Samples of Chinese Patients of Different Genetic Prion Diseases.

Authors:  Cao Chen; Chao Hu; Qi Shi; Wei Zhou; Kang Xiao; Yuan Wang; Lian Liu; Jia Chen; Ying Xia; Xiao-Ping Dong
Journal:  Front Neurosci       Date:  2019-09-04       Impact factor: 4.677

Review 5.  Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases.

Authors:  Eva Bagyinszky; Vo Van Giau; Young Chul Youn; Seong Soo A An; SangYun Kim
Journal:  Neuropsychiatr Dis Treat       Date:  2018-08-14       Impact factor: 2.570
  5 in total

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