Functional MRI changes in the central motor system in myotonic dystrophy type 1

Caramia, Francesca; Mainero, Caterina; Gragnani, F.; Tinelli, Emanuele; Fiorelli, Marco; Ceschin, V.; Pantano, Patrizia; Bucci, Elisabetta; Barra, Veronica; Bozzao, L.; Antonini, Giovanni

doi:10.1016/j.mri.2009.07.006

Cited by 22 publications

(17 citation statements)

References 55 publications

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“…A correlation between motor areas volumes and CTG triplet expansion has been previously reported [17]. In addition, a functional MRI study showed an altered pattern of motor system activations in DM1 patients during a motor task [38]. In our study, DM1 patients also showed a severe involvement of the dorsolateral prefrontal cortex, cingulum, medial and lateral parietal regions, occipital and temporal lobes, that has been associated with cognitive deficits and personality changes in many neurological and psychiatric diseases.…”

Section: Discussionsupporting

confidence: 85%

Cognitive Impairment in Myotonic Dystrophy Type 1 Is Associated with White Matter Damage

et al. 2014

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ObjectiveTo investigate grey (GM) and white matter (WM) abnormalities and their effects on cognitive and behavioral deficits in a large, phenotypically and genotypically well-characterized cohort of classic adult (aDM1, age at onset ≥20 years) or juvenile (jDM1, age at onset <20 years) patients with myotonic dystrophy type 1 (DM1).MethodsA case-control study including 51 DM1 patients (17 jDM1 and 34 aDM1) and 34 controls was conducted at an academic medical center. Clinical, cognitive and structural MRI evaluations were obtained. Quantitative assessments of regional GM volumes, WM hyperintensities (WMHs), and microstructural WM tract damage were performed. The association between structural brain damage and clinical and cognitive findings was assessed.ResultsDM1 patients showed a high prevalence of WMHs, severe regional GM atrophy including the key nodes of the sensorimotor and main cognitive brain networks, and WM microstructural damage of the interhemispheric, corticospinal, limbic and associative pathways. WM tract damage extends well beyond the focal WMHs. While aDM1 patients had severe patterns of GM atrophy and WM tract damage, in jDM1 patients WM abnormalities exceeded GM involvement. In DM1, WMHs and microstructural damage, but not GM atrophy, correlated with cognitive deficits.ConclusionsWM damage, through a disconnection between GM structures, is likely to be the major contributor to cognitive impairment in DM1. Our MRI findings in aDM1 and jDM1 patients support the hypothesis of a degenerative (premature aging) origin of the GM abnormalities and of developmental changes as the principal substrates of microstructural WM alterations in DM1.

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Section: Discussionsupporting

confidence: 85%

Cognitive Impairment in Myotonic Dystrophy Type 1 Is Associated with White Matter Damage

et al. 2014

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“…The external capsule contains corticostriatal projection fibres connecting (pre)-frontal and temporal areas with basal ganglia, known to play a major role in motion planning and execution. A recent functional MRI study in myotonic dystrophy type 1 showed activation patterns in central motor system areas that resembled those in healthy older subjects (Caramia et al , 2010). Taken together, these findings give evidence of impaired central motor functioning in myotonic dystrophies, potentially reflecting an accelerated or increased ageing process.…”

Section: Discussionmentioning

confidence: 94%

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

Minnerop

Weber

Schoene-Bake

et al. 2011

Brain

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291

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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 (T1/T2/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 (Pcorrected < 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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“…A wide range of structural brain abnormalities are known to be present in DM1, including most importantly white matter disease and atrophy . Functional alteration was also found in DM1 by a functional MRI study; the results implied accelerated aging of the brain .…”

Section: Introductionmentioning

confidence: 86%