The Features of Genetic Prion Diseases Based on Chinese Surveillance Program.

ABSTRACT:

Objective

To identify the features of Chinese genetic prion diseases.

Methods

Suspected Creutzfeldt-Jakob disease (CJD) cases that were reported under CJD surveillance were diagnosed and subtyped using the diagnostic criteria issued by the WHO. The general information concerning the patient, their clinical, MRI and EEG data, and the results of CSF 14-3-3 and PRNP sequencing were carefully collected from the database of the national CJD surveillance program and analyzed using the SPSS 11.5 statistical software program.

Results

Since 2006, 69 patients were diagnosed with genetic prion diseases and as having 15 different mutations. The median age of the 69 patients at disease onset was 53.5 years, varying from 19 to 80 years. The majority of patients displaying clinical

SUBMITTER: Shi Q 

PROVIDER: S-EPMC4619501 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature