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)
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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: | Monckton, Professor Darren and Cumming, Dr Sarah |
| 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 > School of Molecular Biosciences |
| 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 |
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