Longitudinal clinical, neuropsychological, and neuroimaging characterization of a kindred with a 12-octapeptide repeat insertion in PRNP: the next generation.

ABSTRACT:

Background

Highly penetrant inherited mutations in the prion protein gene (PRNP) offer a window to study the pathobiology of prion disorders.

Method

Clinical, neuropsychological, and neuroimaging characterization of a kindred.

Results

Three of four mutation carriers have progressed to a frontotemporal dementia phenotype. Declines in neuropsychological function coincided with changes in FDG-PET at the identified onset of cognitive impairment.

Conclusions and relevance

Gene silencing treatments are on the horizon and when they become available, early detection will be crucial. Longitudinal studies involving familial mutation kindreds can offer important insights into the initial neuropsychological and neuroimaging changes necessary for early detection.

SUBMITTER: Townley RA 

PROVIDER: S-EPMC7426006 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature