Neurocognitive features of motor premanifest individuals with myotonic dystrophy type 1

van der Plas, E., Koscik, T. R., Magnotta, V., Cumming, S. A., Monckton, D. , Gutmann, L. and Nopoulos, P. (2021) Neurocognitive features of motor premanifest individuals with myotonic dystrophy type 1. Neurology Genetics, 7(2), e577. (doi: 10.1212/NXG.0000000000000577) (PMID:33912661) (PMCID:PMC8075572)

[img] Text
241482.pdf - Published Version
Available under License Creative Commons Attribution Non-commercial No Derivatives.

698kB

Abstract

Objective: The goal of the study was to identify brain and functional features associated with premanifest phases of adult-onset myotonic dystrophy type 1 (i.e., PreDM1). Methods: This cross-sectional study included 68 healthy adults (mean age = 43.4 years, SD = 12.9), 13 individuals with PreDM1 (mean age: 47.4 years, SD = 16.3), and 37 individuals with manifest DM1 (mean age = 45.2 years, SD = 9.3). The primary outcome measures included fractional anisotropy (FA), motor measures (Muscle Impairment Rating Scale, Grooved Pegboard, Finger-Tapping Test, and grip force), general cognitive abilities (Wechsler Adult Intelligence Scales), sleep quality (Scales for Outcomes in Parkinson's Disease–Sleep), and apathy (Apathy Evaluation Scale). Results: Individuals with PreDM1 exhibited an intermediate level of white matter FA abnormality, where whole-brain FA was lower relative to healthy controls (difference of the estimated marginal mean [EMMdifference] = 0.02, 95% confidence interval (CI) 0.01–0.03, p < 0.001), but the PreDM1 group had significantly higher FA than did individuals with manifest DM1 (EMMdifference = 0.02, 95% CI 0.009–0.03, p < 0.001). Individuals with PreDM1 exhibited reduced performance on the finger-tapping task relative to control peers (EMMdifference = 5.70, 95% CI 0.51–11.00, p = 0.03), but performance of the PreDM1 group was better than that of the manifest DM1 group (EMMdifference = 5.60, 95% CI 0.11–11.00, p = 0.05). Hypersomnolence in PreDM1 was intermediate between controls (EMMdifference = −1.70, 95% CI −3.10–0.35, p = 0.01) and manifest DM1 (EMMdifference = −2.10, 95% CI −3.50–0.60, p = 0.006). Conclusions: Our findings highlight key CNS and functional deficits associated with PreDM1, offering insight in early disease course.

Item Type:Articles
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Cumming, Dr Sarah and Monckton, Professor Darren
Authors: van der Plas, E., Koscik, T. R., Magnotta, V., Cumming, S. A., Monckton, D., Gutmann, L., and Nopoulos, P.
College/School:College of Medical Veterinary and Life Sciences > Institute of Molecular Cell and Systems Biology
Journal Name:Neurology Genetics
Publisher:Lippincott, Williams & Wilkins
ISSN:2376-7839
ISSN (Online):2376-7839
Published Online:18 March 2021
Copyright Holders:Copyright © 2021 The Authors
First Published:First published in Neurology Genetics 7(2): e577
Publisher Policy:Reproduced under a Creative Commons License

University Staff: Request a correction | Enlighten Editors: Update this record

Project CodeAward NoProject NamePrincipal InvestigatorFunder's NameFunder RefLead Dept
173651Longitudinal Assessment of Brain Structure and Function in Myotonic DystrophyDarren MoncktonNational Institutes of Health (NIH)R01NS094387Institute of Molecular, Cell & Systems Biology