Clinical features of genetic Creutzfeldt-Jakob disease with V180I mutation in the prion protein gene.

ABSTRACT:

Objectives

Genetic Creutzfeldt-Jakob disease (CJD) due to V180I mutation in the prion protein gene (PRNP) is of great interest because of the differences from sporadic CJD and other genetic prion diseases in terms of clinical features, as well as pathological and biochemical findings. However, few systematic observations about the clinical features in patients with this unique mutation have been published. Therefore, the goal of this study was to relate this mutation to other forms of CJD from a clinical perspective.

Design

We analysed clinical symptoms, prion protein genetics, biomarkers in cerebrospinal fluid (CSF) and MRI of patients.

Participants

186 Japanese patients with the V180I mutation in PRNP.

Results

Our results indicate that the V180I mutation caus

SUBMITTER: Qina T 

PROVIDER: S-EPMC4025468 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature