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PLoS One. 2019 Mar 7;14(3):e0213381. doi: 10.1371/journal.pone.0213381. eCollection 2019.

Tracking the brain in myotonic dystrophies: A 5-year longitudinal follow-up study.

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Department of Neurology, University Hospital Bonn, Bonn, Germany.
Institute of Neuroscience and Medicine (INM-1), Research Center Juelich, Juelich, Germany.
Center for Movement Disorders and Neuromodulation, Department of Neurology and Institute of Clinical Neuroscience and Medical Psychology, Medical Faculty, Heinrich-Heine University, Düsseldorf, Germany.
German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.
Life and Brain Center, Department of NeuroCognition-Imaging, Bonn, and Department of Epileptology, University Hospital Bonn, Bonn, Germany.
Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.
Department of Epileptology, University Hospital Bonn, Bonn, Germany.
Institute of Clinical Neuroscience and Medical Psychology/ Institute of Systems Neuroscience, Medical Faculty, Heinrich-Heine University, Düsseldorf, Germany.
Department of Neurology, Ruhr-University Bochum, St. Josef Hospital, Bochum, Germany.
Institute of Human Genetics, University Bonn, Bonn, Germany.
Max-Planck-Institute for Neurological Research, Cologne, Germany.
C. and O. Vogt Institute for Brain Research, Medical Faculty, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Center for Rare Diseases Bonn (ZSEB), University Hospital Bonn, Bonn, Germany.
Center for Economics and Neuroscience, University Bonn, Bonn, Germany.



The aim of this study was to examine the natural history of brain involvement in adult-onset myotonic dystrophies type 1 and 2 (DM1, DM2).


We conducted a longitudinal observational study to examine functional and structural cerebral changes in myotonic dystrophies. We enrolled 16 adult-onset DM1 patients, 16 DM2 patients, and 17 controls. At baseline and after 5.5 ± 0.4 years participants underwent neurological, neuropsychological, and 3T-brain MRI examinations using identical study protocols that included voxel-based morphometry and diffusion tensor imaging. Data were analyzed by (i) group comparisons between patients and controls at baseline and follow-up, and (ii) group comparisons using difference maps (baseline-follow-up in each participant) to focus on disease-related effects over time.


We found minor neuropsychological deficits with mild progression in DM1 more than DM2. Daytime sleepiness was restricted to DM1, whereas fatigue was present in both disease entities and stable over time. Comparing results of cross-sectional neuroimaging analyses at baseline and follow-up revealed an unchanged pattern of pronounced white matter alterations in DM1. There was mild additional gray matter reduction in DM1 at follow-up. In DM2, white matter reduction was of lesser extent, but there were some additional alterations at follow-up. Gray matter seemed unaffected in DM2. Intriguingly, longitudinal analyses using difference maps and comparing them between patients and controls did not reveal any significant differences of cerebral changes over time between patients and controls.


The lack of significant disease-related progression of gray and white matter involvement over a period of five years in our cohort of DM1 and DM2 patients suggests either a rather slowly progressive process or even a stable course of cerebral changes in middle-aged adult-onset patients. Being the first longitudinal neuroimaging trial in DM1 and DM2, this study provides useful additional information regarding the natural history of brain involvement.

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Conflict of interest statement

The authors have declared that no competing interests exist.

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