Use of Multimodal Imaging and Clinical Biomarkers in Presymptomatic Carriers of C9orf72 Repeat Expansion.

ABSTRACT:

Importance

During a time with the potential for novel treatment strategies, early detection of disease manifestations at an individual level in presymptomatic carriers of a hexanucleotide repeat expansion in the C9orf72 gene (preSxC9) is becoming increasingly relevant.

Objectives

To evaluate changes in glucose metabolism before symptom onset of amyotrophic lateral sclerosis or frontotemporal dementia in preSxC9 using simultaneous fluorine 18-labeled fluorodeoxyglucose ([18F]FDG positron emission tomographic (PET) and magnetic resonance imaging as well as the mutation's association with clinical and fluid biomarkers.

Design, setting, and participants

A prospective, case-control study enrolled 46 participants from November 30, 2015, until December 11, 2018. The study wa

SUBMITTER: De Vocht J 

PROVIDER: S-EPMC7417970 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature