Characterization of the Pattern of Cognitive Impairment in Myotonic Dystrophy Type 1

Modoni, Anna; Silvestri, Gabriella; Pomponi, Maria Grazia; Mangiola, Fortunato; Tonali, P.; Marra, Camillo

doi:10.1001/archneur.61.12.1943

Cited by 144 publications

(102 citation statements)

References 23 publications

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“…Negative correlations between the CTG repeat expansion size and FSIQ and VIQ were found in all subgroups, but correlations with PIQ were only found in mild congenital DM1. These results confirm the findings from other studies on congenital DM1 5 and on childhood DM1. 8 Most verbal subtests were correlated with the CTG repeat expansion size in both mild congenital and childhood DM1.…”

Section: Discussionsupporting

confidence: 92%

Cognition and adaptive skills in myotonic dystrophy type 1: a study of 55 individuals with congenital and childhood forms

Ekström

Hakenäs-Plate

Tulinius

et al. 2009

Develop Med Child Neuro

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Aims To investigate cognitive abilities and adaptive skills in children and adolescents with myotonic dystrophy type 1 (DM1) and correlate the findings to the cytosine‐thymine‐guanine (CTG) repeat expansion size. Method Cognitive level was assessed in 55 children and adolescents with DM1 (31 males, 24 females; mean age 12y 1mo, SD 5y 1mo; range 2y 7mo–21y 5mo) divided into the following categories: severe congenital DM1 (n=19), mild congenital DM1 (n=18), and childhood DM1 (n=18). The Griffiths Mental Developmental Scale, the Wechsler Scales, and the Vineland Adaptive Behavior Scales (VABS) for adaptive skills were used for this purpose. Results Learning disability was found in 95% of the severe congenital group, 83% of the mild congenital group, and 89% of the childhood DM1 group. The more severe the form of DM1, the lower the full‐scale IQ (FSIQ; rs=0.28, p=0.044). The individuals with severe congenital and childhood DM1 had a significantly higher verbal IQ than performance IQ (severe congenital: mean difference 5.7, SD 5.7, p=0.008; childhood DM1: mean difference 9.8, SD 18.0, p=0.038). CTG repeat expansion correlated negatively with FSIQ (rs=−0.63, p<0.006). Almost all participants showed poor results on the VABS. There was a positive relationship between cognitive level and adaptive skills in the mild congenital (rs=0.95, p<0.01) and childhood DM1 groups (rs=0.92, p<0.01). Interpretation Children and adolescents with DM1 exhibit significant cognitive and adaptive problems.

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Section: Discussionsupporting

confidence: 92%

Cognition and adaptive skills in myotonic dystrophy type 1: a study of 55 individuals with congenital and childhood forms

Ekström

Hakenäs-Plate

Tulinius

et al. 2009

Develop Med Child Neuro

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“…Although DM1 has long been considered mainly as a muscle disorder, there is extensive evidence for the involvement of the central nervous system. Psychological dysfunction, mental retardation, excessive daytime sleepiness, and neuropathological abnormalities have been described in DM1 patients (Abe et al, 1994;Delaporte, 1998;Modoni et al, 2004;Modoni et al, 2008;Perini et al, 1999;Turnpenny et al, 1994). Nevertheless, in contrast to the substantial advances in understanding DM1 muscle pathology, the molecular and functional bases of DM1 in the central nervous system are still largely unknown.…”

Section: Introductionmentioning

confidence: 99%

mTOR-dependent proliferation defect in human ES-derived neural stem cells affected by Myotonic Dystrophy Type1

Denis

Gauthier

Rachdi

et al. 2013

Journal of Cell Science

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SummaryPatients with myotonic dystrophy type 1 exhibit a diversity of symptoms that affect many different organs. Among these are cognitive dysfunctions, the origin of which has remained elusive, partly because of the difficulty in accessing neural cells. Here, we have taken advantage of pluripotent stem cell lines derived from embryos identified during a pre-implantation genetic diagnosis for mutant-gene carriers, to produce early neuronal cells. Functional characterization of these cells revealed reduced proliferative capacity and increased autophagy linked to mTOR signaling pathway alterations. Interestingly, loss of function of MBNL1, an RNA-binding protein whose function is defective in DM1 patients, resulted in alteration of mTOR signaling, whereas gain-of-function experiments rescued the phenotype. Collectively, these results provide a mechanism by which DM1 mutation might affect a major signaling pathway and highlight the pertinence of using pluripotent stem cells to study neuronal defects.

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“…Classical types of the disease, juvenile and adult, develop cognitive decline, characterizing dementia. Personality, motivation, and emotional changes can lead to social isolation [14][15][16] .…”

Section: Central Nervous Systemmentioning

confidence: 99%

Anestesia para colecistectomia videolaparoscópica em paciente portador de Doença de Steinert: relato de caso e revisão de literatura

Bisinotto¹,

Fabri²,

Calçado³

et al. 2010

Rev. Bras. Anestesiol.

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Characterization of the Pattern of Cognitive Impairment in Myotonic Dystrophy Type 1

Cited by 144 publications

References 23 publications

Cognition and adaptive skills in myotonic dystrophy type 1: a study of 55 individuals with congenital and childhood forms

Cognition and adaptive skills in myotonic dystrophy type 1: a study of 55 individuals with congenital and childhood forms

mTOR-dependent proliferation defect in human ES-derived neural stem cells affected by Myotonic Dystrophy Type1

Anestesia para colecistectomia videolaparoscópica em paciente portador de Doença de Steinert: relato de caso e revisão de literatura

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