TY - JOUR
T1 - Relationship of white and gray matter abnormalities to clinical and genetic features in myotonic dystrophy type 1
AU - Zanigni, Stefano
AU - Evangelisti, Stefania
AU - Giannoccaro, Maria Pia
AU - Oppi, Federico
AU - Poda, Roberto
AU - Giorgio, Antonio
AU - Testa, Claudia
AU - Manners, David Neil
AU - Avoni, Patrizia
AU - Gramegna, Laura Ludovica
AU - De Stefano, Nicola
AU - Lodi, Raffaele
AU - Tonon, Caterina
AU - Liguori, Rocco
N1 - Ricercatori distaccati presso IRCCS a seguito Convenzione esclusiva con Università di Bologna (Avoni Patrizia, Liguori Rocco)
PY - 2016
Y1 - 2016
N2 - Background Myotonic dystrophy type 1 (DM1) represents a multisystemic disorder in which diffuse brain white and gray matter alterations related to clinical and genetic features have been described. We aimed to evaluate in the brain of adult patients with DM1 (i) white and gray matter differences, including cortical-subcortical gray matter volume and cortical thickness and (ii) their correlation with clinical disability, global neuropsychological performance and triplet expansion. Methods We included 24 adult genetically-confirmed DM1 patients (14 males; age: 38.5 ± 11.8 years) and 25 age- and sex-matched healthy controls (14 males; age: 38.5 ± 11.3 years) who underwent an identical brain MR protocol including high-resolution 3D T1-weighted, axial T2 FLAIR and DTI sequences. All patients underwent an extensive clinical and neuropsychological evaluation. Voxel-wise analyses of white matter, performed by using Tract Based Spatial Statistics, and of gray matter, with Voxel-based Morphometry and Cortical Thickness, were carried out in order to test for differences between patients with DM1 and healthy controls (p <0.05, corrected). The correlation between MRI measures and clinical-genetic features was also assessed. Results Patients with DM1 showed widespread abnormalities of all DTI parameters in the white matter, which were associated with reduced gray matter volume in all brain lobes and thinning in parieto-temporo-occipital cortices, albeit with less extensive cortical alterations when congenital cases were removed from the analyses. White matter alterations correlated with clinical disability, global cognitive performance and triplet expansions. Conclusion In patients with DM1, the combined smaller overall gray matter volume and white matter alterations seem to be the main morpho-structural substrates of CNS involvement in this condition. The correlation of white matter differences with both clinical and genetic findings lends support to this notion.
AB - Background Myotonic dystrophy type 1 (DM1) represents a multisystemic disorder in which diffuse brain white and gray matter alterations related to clinical and genetic features have been described. We aimed to evaluate in the brain of adult patients with DM1 (i) white and gray matter differences, including cortical-subcortical gray matter volume and cortical thickness and (ii) their correlation with clinical disability, global neuropsychological performance and triplet expansion. Methods We included 24 adult genetically-confirmed DM1 patients (14 males; age: 38.5 ± 11.8 years) and 25 age- and sex-matched healthy controls (14 males; age: 38.5 ± 11.3 years) who underwent an identical brain MR protocol including high-resolution 3D T1-weighted, axial T2 FLAIR and DTI sequences. All patients underwent an extensive clinical and neuropsychological evaluation. Voxel-wise analyses of white matter, performed by using Tract Based Spatial Statistics, and of gray matter, with Voxel-based Morphometry and Cortical Thickness, were carried out in order to test for differences between patients with DM1 and healthy controls (p <0.05, corrected). The correlation between MRI measures and clinical-genetic features was also assessed. Results Patients with DM1 showed widespread abnormalities of all DTI parameters in the white matter, which were associated with reduced gray matter volume in all brain lobes and thinning in parieto-temporo-occipital cortices, albeit with less extensive cortical alterations when congenital cases were removed from the analyses. White matter alterations correlated with clinical disability, global cognitive performance and triplet expansions. Conclusion In patients with DM1, the combined smaller overall gray matter volume and white matter alterations seem to be the main morpho-structural substrates of CNS involvement in this condition. The correlation of white matter differences with both clinical and genetic findings lends support to this notion.
KW - cortical thickness
KW - DTI
KW - myotonic dystrophy type 1
KW - TBSS
KW - VBM
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U2 - 10.1016/j.nicl.2016.04.012
DO - 10.1016/j.nicl.2016.04.012
M3 - Article
C2 - 27330968
AN - SCOPUS:84973102486
VL - 11
SP - 678
EP - 685
JO - NeuroImage: Clinical
JF - NeuroImage: Clinical
SN - 2213-1582
ER -