Cognitive impairment in Duchenne muscular dystrophy

Bresolin, Nereo; Castelli, Enrico; Comi, Giacomo P.; Felisari, G.; Bardoni, Alessandra; Perani, Daniela; Grassi, F.; Turconi, Anna Carla; Mazzucchelli, Franca; Gallotti, D.; Moggio, Maurizio; Prelle, A.; Ausenda, Carlo D.; Fazio, G; Scarlato, G.

doi:10.1016/0960-8966(94)90072-8

Cited by 162 publications

(152 citation statements)

References 40 publications

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“…In contrast, al-Qudah et al (24) found no correlation between MRI findings and verbal intelligence scores for four patients, two of whom were found to have mild atrophy (i.e., dilated lateral ventricles, CSF spaces, and cerebral sulci). Similarly, a MRI study by Bresolin and colleagues found no focal or generalized changes, but their sample was very small (n=4) (25).…”

Section: Discussionmentioning

confidence: 99%

Diffusion tensor imaging study in Duchenne muscular dystrophy

Fu¹,

Dong²,

Zhang³

et al. 2016

Ann. Transl. Med.

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Background: Duchenne muscular dystrophy (DMD) is a progressive muscle disorder associated with an intellectual deficit which is non-progressive. The aim of this study was to investigate brain microstructural changes in DMD and to explore the relationship between such changes and cognitive impairment.Methods: All participants (12 DMD patients, 14 age-matched healthy boys), intelligence quotients (IQs) [both full (FIQ) and verbal (VIQ)] were evaluated using the Wechsler intelligence scale for children China revised (WISC-CR) edition, and brain gray matter (GM) and white matter (WM) changes were mapped using diffusion tensor imaging (DTI) with fractional anisotropy (FA). The differences between groups were analyzed using the t-test and the association of cognition with neuroimaging parameters was evaluated using Pearson's correlation coefficient. Conclusions: There were microstructural changes of splenium of CC in DMD patients, which was associated with cognitive impairment.

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Section: Discussionmentioning

confidence: 99%

Diffusion tensor imaging study in Duchenne muscular dystrophy

Fu¹,

Dong²,

Zhang³

et al. 2016

Ann. Transl. Med.

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“…49 In addition, phosphodiesterase (PDE4B) and dystrophin (DMD) have been suggested to be important for cognitive function, deficits in which are a major component of schizophrenic symptomatology. 50,51 Experimental derivation of the DISC1 network of interactions In order to derive a PPI network around DISC1, a series of second round Y2H screens were performed. Eight DISC1 interacting proteins were selected for subsequent screening against fetal brain library ( Figure 1a; Table 1).…”

Section: Disc1 Interacts With Functionally Diverse Proteinsmentioning

confidence: 99%

Disrupted in Schizophrenia 1 Interactome: evidence for the close connectivity of risk genes and a potential synaptic basis for schizophrenia

et al. 2006

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Disrupted in Schizophrenia 1 (DISC1) is a schizophrenia risk gene associated with cognitive deficits in both schizophrenics and the normal ageing population. In this study, we have generated a network of protein-protein interactions (PPIs) around DISC1. This has been achieved by utilising iterative yeast-two hybrid (Y2H) screens, combined with detailed pathway and functional analysis. This so-called 'DISC1 interactome' contains many novel PPIs and provides a molecular framework to explore the function of DISC1. The network implicates DISC1 in processes of cytoskeletal stability and organisation, intracellular transport and cellcycle/division. In particular, DISC1 looks to have a PPI profile consistent with that of an essential synaptic protein, which fits well with the underlying molecular pathology observed at the synaptic level and the cognitive deficits seen behaviourally in schizophrenics. Utilising a similar approach with dysbindin (DTNBP1), a second schizophrenia risk gene, we show that dysbindin and DISC1 share common PPIs suggesting they may affect common biological processes and that the function of schizophrenia risk genes may converge.

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“…13 A TMS study implicated decreased excitability in the left motor cortex in patients with DMD. 14 Brain MR imaging studies did not find prominent structural abnormality in DMD participants 10,12,13 and mdx mice. 15 The results of apparently normal structures on MR imaging in patients with DMD were obtained by visual inspection 12,13 or by measuring the ventricle size.…”

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confidence: 99%

“…14 Brain MR imaging studies did not find prominent structural abnormality in DMD participants 10,12,13 and mdx mice. 15 The results of apparently normal structures on MR imaging in patients with DMD were obtained by visual inspection 12,13 or by measuring the ventricle size. 10 In fact, a modern analysis technique called VBM has been widely used in neuroimaging studies, which measures the GMC in a voxelwise way and is sensitive to subtle gray matter changes.…”

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confidence: 99%