Novel mutation of the PRNP gene of a clinical CJD case.

ABSTRACT:

Background

Transmissible spongiform encephalopathies (TSEs), a group of neurodegenerative diseases, are thought to be caused by an abnormal isoform of a naturally occurring protein known as cellular prion protein, PrPC. The abnormal form of prion protein, PrPSc accumulates in the brain of affected individuals. Both isoforms are encoded by the same prion protein gene (PRNP), and the structural changes occur post-translationally. Certain mutations in the PRNP gene result in genetic TSEs or increased susceptibility to TSEs.

Case presentation

A 70 year old woman was admitted to the hospital with severe confusion and inability to walk. Relatives recognized memory loss, gait and behavioral disturbances over a six month period prior to hospitalization. Neurological examination reve

SUBMITTER: Kotta K 

PROVIDER: S-EPMC1693557 | biostudies-literature | 2006 Nov

REPOSITORIES: biostudies-literature