title: Relationship between neuropsychological impairment and grey and white matter changes in adult-onset myotonic dystrophy type 1.
abstract: Myotonic dystrophy type 1 (DM1) has a wide phenotypic spectrum and potentially may affect central nervous system with mild to severe involvement. Our aim was to investigate grey matter (GM) and white matter (WM) structural alterations in a sample of adult-onset DM1 patients and to evaluate relationship with clinical and cognitive variables. Thirty DM1 patients underwent neuropsychological investigation and 3T-MRI protocol. GM and WM changes were evaluated calculating brain parenchymal fraction (BPF), voxel-based morphometry (VBM), white matter lesion load (LL% and Fazekas scale) and tract based spatial statistical (TBSS). Patients showed main impairment in tests exploring executive and mnesic domains with visuo-spatial involvement, significantly related to BPF. VBM revealed clusters of widespread GM reduction and TBSS revealed areas of decreased fractional anisotropy (FA) and increased radial diffusivity (RD), mean diffusivity (MD) and axial diffusivity (AD) in patients compared to a group of matched healthy controls. Multiple regression analyses showed areas of significant negative relationship between left temporal atrophy and verbal memory, between RD and mnesic and visuo-spatial cognitive domains, and between AD and verbal memory. TBSS results indicate that the involvement of normal appearance WM, beyond the signal changes detected with conventional MR imaging (Fazekas scale and LL%), was associated with neuropsychological deficit. These data suggest that disrupted complex neuronal networks can underlie cognitive-behavioural dysfunctions in DM1.
authors.affiliation: Department of Clinical and Experimental Medicine, University of Pisa, via Savi 10, 56126 Pisa, Italy.
authors.forename: Sigrid
authors.initials: S
authors.lastname: Baldanzi
authors.affiliation: Neuroradiology Unit, S.Chiara Hospital, via Roma 67, 56126 Pisa, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Cecchi
authors.affiliation: Neuroradiology Unit, S.Chiara Hospital, via Roma 67, 56126 Pisa, Italy.
authors.forename: Serena
authors.initials: S
authors.lastname: Fabbri
authors.affiliation: Neuroradiology Unit, S.Chiara Hospital, via Roma 67, 56126 Pisa, Italy.
authors.forename: Ilaria
authors.initials: I
authors.lastname: Pesaresi
authors.affiliation: Department of Clinical and Experimental Medicine, University of Pisa, via Savi 10, 56126 Pisa, Italy.
authors.forename: Costanza
authors.initials: C
authors.lastname: Simoncini
authors.affiliation: Fondazione Ospedale S.Camillo, IRCCS, Via Alberoni 70, 30126 Lido Venice, Italy.
authors.forename: Corrado
authors.initials: C
authors.lastname: Angelini
authors.affiliation: Department of Clinical and Experimental Medicine, University of Pisa, via Savi 10, 56126 Pisa, Italy.
authors.forename: Ubaldo
authors.initials: U
authors.lastname: Bonuccelli
authors.affiliation: Neuroradiology Unit, S.Chiara Hospital, via Roma 67, 56126 Pisa, Italy; Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, via Savi 10, 56126 Pisa, Italy.
authors.forename: Mirco
authors.initials: M
authors.lastname: Cosottini
authors.affiliation: Department of Clinical and Experimental Medicine, University of Pisa, via Savi 10, 56126 Pisa, Italy.
authors.forename: Gabriele
authors.initials: G
authors.lastname: Siciliano
mesh_terms: D000328:Adult; D000368:Aged; D016880:Anisotropy; D001284:Atrophy; D001921:Brain / Q000473:pathology*; D060825:Cognitive Dysfunction / Q000150:complications / Q000473:pathology*; D005260:Female; D066128:Gray Matter / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000150:complications / Q000473:pathology* / Q000523:psychology*; D009483:Neuropsychological Tests; D066127:White Matter / Q000473:pathology*; D055815:Young Adult
keywords: DM1; MR imaging; Neuropsychology; TBSS; VBM