248th ENMC International Workshop: Myotonic dystrophies: Molecular approaches for clinical purposes, framing a European molecular research network, Hoofddorp, the Netherlands, 11–13 October 2019

Wansink, Derick G.; Gourdon, Geneviève; Engelen, B.G.M. van; Schöser, Benedikt

doi:10.1016/j.nmd.2020.03.011

Cited by 1 publication

(2 citation statements)

References 68 publications

(58 reference statements)

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“…Both beneficial effects on primary and secondary outcomes were sustained at 16 months. On the contrary, depression and apathy evaluations were stable (135). So, currently data, although at the moment there is a lack of strength empirical studies on this regard, encourage to provide DM1 patients and their families with neurocognitive rehabilitation as well as psychological support programs (86).…”

Section: Discussionmentioning

confidence: 99%

“…However, despite the number of studies published in the literature on this topic, there are not comprehensive enough consensus protocols for neuroimaging and cognitive testing in DM1. Recent international workshops stressed the needs to design patient questionnaires and clinical neuropsychological tests to better size and confidently reproduce what cognitive domains of CNS are affected in DM; moreover, more longitudinal natural history studies with CNS measures are strongly needed to understand the pattern of progression and decline in DM1 over time (135). Finally, we also need terms of comparison along longitudinal time-elapsed studies between neuroimaging and neuropsychological data that will help to correlate any decline in cognitive functioning with a change in brain morphology.…”

Section: Methods To Assess Cns Involvement In Dm1 As Possible Outcomementioning

confidence: 99%

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Central Nervous System Involvement as Outcome Measure for Clinical Trials Efficacy in Myotonic Dystrophy Type 1

et al. 2020

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Increasing evidences indicate that in Myotonic Dystrophy type 1 (DM1 or Steinert disease), an autosomal dominant multisystem disorder caused by a (CTG)n expansion in DMPK gene on chromosome 19q13. 3, is the most common form of inherited muscular dystrophy in adult patients with a global prevalence of 1/8000, and involvement of the central nervous system can be included within the core clinical manifestations of the disease. Variable in its severity and progression rate over time, likely due to the underlying causative molecular mechanisms; this component of the clinical picture presents with high heterogeneity involving cognitive and behavioral alterations, but also sensory-motor neural integration, and in any case, significantly contributing to the disease burden projected to either specific functional neuropsychological domains or quality of life as a whole. Principle manifestations include alterations of the frontal lobe function, which is more prominent in patients with an early onset, such as in congenital and childhood onset forms, here associated with severe intellectual disabilities, speech and language delay and reduced IQ-values, while in adult onset DM1 cognitive and neuropsychological findings are usually not so severe. Different methods to assess central nervous system involvement in DM1 have then recently been developed, these ranging from more classical psychometric and cognitive functional instruments to sophisticated psycophysic, neurophysiologic and especially computerized neuroimaging techniques, in order to better characterize this disease component, at the same time underlining the opportunity to consider it a suitable marker on which measuring putative effectiveness of therapeutic interventions. This is the reason why, as outlined in the conclusive section of this review, the Authors are lead to wonder, perhaps in a provocative and even paradoxical way to arise the question, whether or not the myologist, by now the popular figure in charge to care of a patient with the DM1, needs to remain himself a neurologist to better appreciate, evaluate and speculate on this important aspect of Steinert disease.

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Section: Discussionmentioning

confidence: 99%

Section: Methods To Assess Cns Involvement In Dm1 As Possible Outcomementioning

confidence: 99%

Central Nervous System Involvement as Outcome Measure for Clinical Trials Efficacy in Myotonic Dystrophy Type 1

et al. 2020

View full text Add to dashboard Cite

show abstract

248th ENMC International Workshop: Myotonic dystrophies: Molecular approaches for clinical purposes, framing a European molecular research network, Hoofddorp, the Netherlands, 11–13 October 2019

Cited by 1 publication

References 68 publications

Central Nervous System Involvement as Outcome Measure for Clinical Trials Efficacy in Myotonic Dystrophy Type 1

Central Nervous System Involvement as Outcome Measure for Clinical Trials Efficacy in Myotonic Dystrophy Type 1

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