Journal article
Neurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1
Neurology. Genetics, Vol.7(2), pp.e577-e577
04/2021
DOI: 10.1212/NXG.0000000000000577
PMID: 33912661
Abstract
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).
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).
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 [EMM
] = 0.02, 95% confidence interval (CI) 0.01-0.03,
< 0.001), but the PreDM1 group had significantly higher FA than did individuals with manifest DM1 (EMM
= 0.02, 95% CI 0.009-0.03,
< 0.001). Individuals with PreDM1 exhibited reduced performance on the finger-tapping task relative to control peers (EMM
= 5.70, 95% CI 0.51-11.00,
= 0.03), but performance of the PreDM1 group was better than that of the manifest DM1 group (EMM
= 5.60, 95% CI 0.11-11.00,
= 0.05). Hypersomnolence in PreDM1 was intermediate between controls (EMM
= -1.70, 95% CI -3.10-0.35,
= 0.01) and manifest DM1 (EMM
= -2.10, 95% CI -3.50-0.60,
= 0.006).
Our findings highlight key CNS and functional deficits associated with PreDM1, offering insight in early disease course.
Details
- Title: Subtitle
- Neurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1
- Creators
- Ellen van der Plas - University of Iowa, PsychiatryTimothy R Koscik - University of Iowa, PsychiatryVincent Magnotta - University of Iowa, RadiologySarah A Cumming - Department of Psychiatry (E.v.d.P., T.R.K., P.N.), Department of Radiology (V.M.), and Department of Neurology (L.G.), University of Iowa Hospitals and Clinics; and Institute of Molecular, Cell and Systems Biology (S.A.C., D.M.), University of Glasgow, Scotland, United KingdomDarren Monckton - Department of Psychiatry (E.v.d.P., T.R.K., P.N.), Department of Radiology (V.M.), and Department of Neurology (L.G.), University of Iowa Hospitals and Clinics; and Institute of Molecular, Cell and Systems Biology (S.A.C., D.M.), University of Glasgow, Scotland, United KingdomLaurie Gutmann - University of Iowa, NeurologyPeggy Nopoulos - University of Iowa, Psychiatry
- Resource Type
- Journal article
- Publication Details
- Neurology. Genetics, Vol.7(2), pp.e577-e577
- DOI
- 10.1212/NXG.0000000000000577
- PMID
- 33912661
- ISSN
- 2376-7839
- eISSN
- 2376-7839
- Language
- English
- Date published
- 04/2021
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Neurology; Radiology; Psychiatry; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
- Record Identifier
- 9984120578902771
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