Longitudinal diffusion imaging across the C9orf72 clinical spectrum.

ABSTRACT:

Introduction

Discrepancies between diffusion tensor imaging (DTI) findings and functional rating scales in amyotrophic lateral sclerosis (ALS) may be due to symptom heterogeneity, particularly coexisting cognitive-behavioural dysfunction affecting non-motor regions of the brain. Carriers of expansion mutations in the C9orf72 gene, whose motor and cognitive-behavioural symptoms span a range from ALS to frontotemporal dementia, present an opportunity to evaluate the relationship between symptom heterogeneity and DTI changes.

Methods

Twenty-eight C9orf72 mutation carriers with varied cognitive and motor symptoms underwent clinical evaluation and DTI imaging. Twenty returned for two or more follow-up evaluations. Each evaluation included motor, executive and behavi

SUBMITTER: Floeter MK 

PROVIDER: S-EPMC6454927 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature