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The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease

Myotonic dystrophy types 1 and 2 are progressive multisystemic disorders with potential brain involvement. We compared 22 myotonic dystrophy type 1 and 22 myotonic dystrophy type 2 clinically and neuropsychologically well-characterized patients and a corresponding healthy control group using structu...

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Autores principales: Minnerop, Martina, Weber, Bernd, Schoene-Bake, Jan-Christoph, Roeske, Sandra, Mirbach, Sandra, Anspach, Christian, Schneider-Gold, Christiane, Betz, Regina C., Helmstaedter, Christoph, Tittgemeyer, Marc, Klockgether, Thomas, Kornblum, Cornelia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3235566/
https://www.ncbi.nlm.nih.gov/pubmed/22131273
http://dx.doi.org/10.1093/brain/awr299
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author Minnerop, Martina
Weber, Bernd
Schoene-Bake, Jan-Christoph
Roeske, Sandra
Mirbach, Sandra
Anspach, Christian
Schneider-Gold, Christiane
Betz, Regina C.
Helmstaedter, Christoph
Tittgemeyer, Marc
Klockgether, Thomas
Kornblum, Cornelia
author_facet Minnerop, Martina
Weber, Bernd
Schoene-Bake, Jan-Christoph
Roeske, Sandra
Mirbach, Sandra
Anspach, Christian
Schneider-Gold, Christiane
Betz, Regina C.
Helmstaedter, Christoph
Tittgemeyer, Marc
Klockgether, Thomas
Kornblum, Cornelia
author_sort Minnerop, Martina
collection PubMed
description Myotonic dystrophy types 1 and 2 are progressive multisystemic disorders with potential brain involvement. We compared 22 myotonic dystrophy type 1 and 22 myotonic dystrophy type 2 clinically and neuropsychologically well-characterized patients and a corresponding healthy control group using structural brain magnetic resonance imaging at 3 T (T(1)/T(2)/diffusion-weighted). Voxel-based morphometry and diffusion tensor imaging with tract-based spatial statistics were applied for voxel-wise analysis of cerebral grey and white matter affection (P(corrected) < 0.05). We further examined the association of structural brain changes with clinical and neuropsychological data. White matter lesions rated visually were more prevalent and severe in myotonic dystrophy type 1 compared with controls, with frontal white matter most prominently affected in both disorders, and temporal lesions restricted to myotonic dystrophy type 1. Voxel-based morphometry analyses demonstrated extensive white matter involvement in all cerebral lobes, brainstem and corpus callosum in myotonic dystrophy types 1 and 2, while grey matter decrease (cortical areas, thalamus, putamen) was restricted to myotonic dystrophy type 1. Accordingly, we found more prominent white matter affection in myotonic dystrophy type 1 than myotonic dystrophy type 2 by diffusion tensor imaging. Association fibres throughout the whole brain, limbic system fibre tracts, the callosal body and projection fibres (e.g. internal/external capsules) were affected in myotonic dystrophy types 1 and 2. Central motor pathways were exclusively impaired in myotonic dystrophy type 1. We found mild executive and attentional deficits in our patients when neuropsychological tests were corrected for manual motor dysfunctioning. Regression analyses revealed associations of white matter affection with several clinical parameters in both disease entities, but not with neuropsychological performance. We showed that depressed mood and fatigue were more prominent in patients with myotonic dystrophy type 1 with less white matter affection (early disease stages), contrary to patients with myotonic dystrophy type 2. Thus, depression in myotonic dystrophies might be a reactive adjustment disorder rather than a direct consequence of structural brain damage. Associations of white matter affection with age/disease duration as well as patterns of cerebral water diffusion parameters pointed towards an ongoing process of myelin destruction and/or axonal loss in our cross-sectional study design. Our data suggest that both myotonic dystrophy types 1 and 2 are serious white matter diseases with prominent callosal body and limbic system affection. White matter changes dominated the extent of grey matter changes, which might argue against Wallerian degeneration as the major cause of white matter affection in myotonic dystrophies.
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spelling pubmed-32355662011-12-14 The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease Minnerop, Martina Weber, Bernd Schoene-Bake, Jan-Christoph Roeske, Sandra Mirbach, Sandra Anspach, Christian Schneider-Gold, Christiane Betz, Regina C. Helmstaedter, Christoph Tittgemeyer, Marc Klockgether, Thomas Kornblum, Cornelia Brain Original Articles Myotonic dystrophy types 1 and 2 are progressive multisystemic disorders with potential brain involvement. We compared 22 myotonic dystrophy type 1 and 22 myotonic dystrophy type 2 clinically and neuropsychologically well-characterized patients and a corresponding healthy control group using structural brain magnetic resonance imaging at 3 T (T(1)/T(2)/diffusion-weighted). Voxel-based morphometry and diffusion tensor imaging with tract-based spatial statistics were applied for voxel-wise analysis of cerebral grey and white matter affection (P(corrected) < 0.05). We further examined the association of structural brain changes with clinical and neuropsychological data. White matter lesions rated visually were more prevalent and severe in myotonic dystrophy type 1 compared with controls, with frontal white matter most prominently affected in both disorders, and temporal lesions restricted to myotonic dystrophy type 1. Voxel-based morphometry analyses demonstrated extensive white matter involvement in all cerebral lobes, brainstem and corpus callosum in myotonic dystrophy types 1 and 2, while grey matter decrease (cortical areas, thalamus, putamen) was restricted to myotonic dystrophy type 1. Accordingly, we found more prominent white matter affection in myotonic dystrophy type 1 than myotonic dystrophy type 2 by diffusion tensor imaging. Association fibres throughout the whole brain, limbic system fibre tracts, the callosal body and projection fibres (e.g. internal/external capsules) were affected in myotonic dystrophy types 1 and 2. Central motor pathways were exclusively impaired in myotonic dystrophy type 1. We found mild executive and attentional deficits in our patients when neuropsychological tests were corrected for manual motor dysfunctioning. Regression analyses revealed associations of white matter affection with several clinical parameters in both disease entities, but not with neuropsychological performance. We showed that depressed mood and fatigue were more prominent in patients with myotonic dystrophy type 1 with less white matter affection (early disease stages), contrary to patients with myotonic dystrophy type 2. Thus, depression in myotonic dystrophies might be a reactive adjustment disorder rather than a direct consequence of structural brain damage. Associations of white matter affection with age/disease duration as well as patterns of cerebral water diffusion parameters pointed towards an ongoing process of myelin destruction and/or axonal loss in our cross-sectional study design. Our data suggest that both myotonic dystrophy types 1 and 2 are serious white matter diseases with prominent callosal body and limbic system affection. White matter changes dominated the extent of grey matter changes, which might argue against Wallerian degeneration as the major cause of white matter affection in myotonic dystrophies. Oxford University Press 2011-12 2011-11-29 /pmc/articles/PMC3235566/ /pubmed/22131273 http://dx.doi.org/10.1093/brain/awr299 Text en © The Author (2011). Published by Oxford University Press on behalf of the Guarantors of Brain. http://creativecommons.org/licenses/by-nc/3.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Articles
Minnerop, Martina
Weber, Bernd
Schoene-Bake, Jan-Christoph
Roeske, Sandra
Mirbach, Sandra
Anspach, Christian
Schneider-Gold, Christiane
Betz, Regina C.
Helmstaedter, Christoph
Tittgemeyer, Marc
Klockgether, Thomas
Kornblum, Cornelia
The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease
title The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease
title_full The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease
title_fullStr The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease
title_full_unstemmed The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease
title_short The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease
title_sort brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3235566/
https://www.ncbi.nlm.nih.gov/pubmed/22131273
http://dx.doi.org/10.1093/brain/awr299
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