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Dorst, Maud van; Okkersen, Kees; Kessels, Roy P. C.; Meijer, Frederick J. A.; Monckton, Darren G.; van Engelen, Baziel G. M.; Tuladhar, Anil M.; Raaphorst, Joost; Nikolaus, Stephanie; Cornelissen, Yvonne; Nimwegen, Marlies van; Maas, Daphne; Klerks, Ellen; Bouman, Sacha; Knoop, Hans; Heskamp, Linda; Heerschap, Arend; Rahmadi, Ridho; Groot, Perry; Heskes, Tom; Kapusta, Katarzyna; Glennon, Jeffrey; Abghari, Shaghayegh; Aschrafi, Armaz; Poelmans, Geert; Lochmüller, Hanns; Gorman, Grainne; Moreno, Aura Cecilia Jimenez; Trenell, Michael; Laar, Sandra van; Wood, Libby; Cassidy, Sophie; Newman, Jane; Charman, Sarah; Steffaneti, Renae; Taylor, Louise; Brownrigg, Allan; Day, Sharon; Atalaia, Antonio; Schoser, Benedikt; Wenninger, Stephan; Schueller, Angela; Stahl, Kristina; Kuenzel, Heike; Wolf, Martin; Jelinek, Anna; Bassez, Guillaume; Daidj, Ferroudja; Lignier, Baptiste; Couppey, Florence; Delmas, Stephanie; Deux, Jean-Francois; Hankiewicz, Karolina; Dogan, Celine; Minier, Lisa; Chevalier, Pascale; Hamadouche, Amira; Cumming, Sarah A.; Donnan, Peter; Hapca, Adrian; Hannah, Michael; Hogarth, Fiona; Littleford, Roberta; McKenzie, Emma; Rauchhaus, Petra; Catt, Michael; Hees, Vincent van; Catt, Sharon; Schwalber, Ameli; Dittrich, Juliane; Treweek, Shaun; Faber, Catharina; Merkies, Ingemar and Kierkegaard, Marie (2019): Structural white matter networks in myotonic dystrophy type 1. In: Neuroimage-Clinical, Vol. 21, UNSP 101615

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The myriad of neuropsychiatric manifestations reported in myotonic dystrophy type 1 may have its origin in alterations of complex brain network interactions at the structural level. In this study, we tested the hypothesis that altered white matter microstructural integrity and network organisation were present in a cohort of individuals with DM1 compared to unaffected controls, which was expected to be associated with CNS related disease manifestations of DM1. We performed a cross-sectional neuropsychological assessment and brain MRI in 25 myotonic dystrophy type 1 (DM1) patients and 26 age, sex and educational level matched unaffected controls. Patients were recruited from the Dutch cohort of the OPTIMISTIC study, a concluded trial which had included ambulant, genetically confirmed DM1 patients who were severely fatigued. We applied graph theoretical analysis on structural networks derived from diffusion tensor imaging (DTI) data and deterministic tractography to determine global and local network properties and performed group-wise comparisons. Furthermore, we analysed the following variables from structural MRI imaging: semi-quantitative white matter hyperintensity load and white matter tract integrity using tract-based spatial statistics (TBSS). Structural white matter networks in DM1 were characterised by reduced global efficiency, local efficiency and strength, while the network density was compatible to controls. Other findings included increased white matter hyperintensity load, and diffuse alterations of white matter microstructure in projection, association and commissural fibres. DTI and network measures were associated (partial correlations coefficients ranging from 0.46 to 0.55) with attention (d2 Test), motor skill (Purdue Pegboard test) and visual-constructional ability and memory (copy subtest of the Rey-Osterrieth Complex Figure Test). DTI and network measures were not associated with clinical measures of fatigue (checklist individual strength, fatigue subscale) or apathy (apathy evaluation scale - clinician version). In conclusion, our study supports the view of brain involvement in DM1 as a complex network disorder, characterised by white matter network alterations that may have relevant neuropsychological correlations. This work was supported by the European Community's Seventh Framework Programme (FP7/2007-2013;grant agreement n degrees 305,697) and the Marigold Foundation.

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