Sporadic Creutzfeldt-Jakob Disease in the young (50 and below): 10-year review of United Kingdom surveillance.

ABSTRACT:

Introduction

Sporadic Creutzfeldt-Jakob Disease (sCJD) is the commonest human prion disease, with a median age of onset of 68 years. We characterise the clinical, investigation, and neuropathological features in young individuals with sCJD using data from UK national CJD surveillance.

Methods

Referrals between 2011 and 2021 were examined, with definite (post-mortem confirmed) or probable sCJD cases included. Clinical features, MRI, EEG, CSF RT-QuIC, 14-3-3, PRNP sequencing and neuropathological findings were examined. We compared younger (≤ 50 years age of onset) with older individuals. Records of Non-sCJD referrals were also reviewed.

Results

46 (4%) young individuals were identified (age at onset 25-50) from 1178 cases. 15 (33%) were autopsy confirmed. Psychiatric d

SUBMITTER: Tam J 

PROVIDER: S-EPMC9886636 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature