Cognitive assessment in patients with myotonic dystrophy type 2

Perić, Stojan; Gunjic, Ilija; Delic, Neda; Tamaš, Olivera; Salak-Djokic, Biljana; Pešović, Jovan; Djordjevic, Ivana Petrovic; Ivanovic, Vukan; Savić‐Pavićević, Dušanka; Meola, Giovanni; Rakočević-Stojanović, Vidosava

doi:10.1016/j.nmd.2022.06.011

Cited by 4 publications

(5 citation statements)

References 32 publications

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“…A previous review summarized that cognitive impairment was observed in over 50% of DM1 patients, which manifests as a variable combination of global cognitive deficits across various domains, including social cognition, memory, executive function and visuospatial function ( Rosado Bartolomé et al, 2022 ). It explicitly affects frontotemporal functions ( Gaul et al, 2006 ; Sansone et al, 2007 ; Modoni et al, 2008 ; Sistiaga et al, 2010 ), the prominent characteristic of which is executive dysfunction ( Baldanzi et al, 2016 ; Gallais et al, 2017 ; Peric et al, 2017 ; Fujino et al, 2018 ; Peric et al, 2022 ). This manifests as difficulties in planning, organizing, initiating tasks, and making decisions.…”

Section: Cognitive Impairment In Dmmentioning

confidence: 99%

“…Consequently, it can significantly impact the ability to effectively carry out daily activities, resulting in apathy and reduced physical activity. Additionally, visuospatial processing difficulties exist, encompassing the comprehension and interpretation of visual information about spatial connections among objects ( Angeard et al, 2011 ; Douniol et al, 2012 ; Baldanzi et al, 2016 ; Gallais et al, 2017 ; Peric et al, 2017 ; Fujino et al, 2018 ; Labayru et al, 2020a ; Peric et al, 2022 ; Sweere et al, 2023 ). Memory deficits, particularly in working memory and short-term memory domains, are prevalent among patients with DM1, leading to difficulties in recalling recent events and acquiring new knowledge ( Gallais et al, 2017 ; Fujino et al, 2018 ; Woo et al, 2019 ; Sweere et al, 2023 ).…”

Section: Cognitive Impairment In Dmmentioning

confidence: 99%

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Cognitive impairment, neuroimaging abnormalities, and their correlations in myotonic dystrophy: a comprehensive review

Wu,

Wei,

Lin

et al. 2024

Front. Cell. Neurosci.

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Myotonic dystrophy (DM) encompasses a spectrum of neuromuscular diseases characterized by myotonia, muscle weakness, and wasting. Recent research has led to the recognition of DM as a neurological disorder. Cognitive impairment is a central nervous system condition that has been observed in various forms of DM. Neuroimaging studies have increasingly linked DM to alterations in white matter (WM) integrity and highlighted the relationship between cognitive impairment and abnormalities in WM structure. This review aims to summarize investigations into cognitive impairment and brain abnormalities in individuals with DM and to elucidate the correlation between these factors and the potential underlying mechanisms contributing to these abnormalities.

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Section: Cognitive Impairment In Dmmentioning

confidence: 99%

Section: Cognitive Impairment In Dmmentioning

confidence: 99%

Cognitive impairment, neuroimaging abnormalities, and their correlations in myotonic dystrophy: a comprehensive review

Wu,

Wei,

Lin

et al. 2024

Front. Cell. Neurosci.

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“…In a recently published study including 76 Serbian patients with DM2, patients underwent clinical and neuropsychological testing, including cognitive screening and assessment of general intellectual level, attention, executive and visuospatial abilities, and memory, and language assessment [17 ▪▪ ]. The authors used cognitive screening tests such as the Addenbrooke's Cognitive Examination Revised (ACE-R), the Mini Mental State Examination test (MMSE), and Raven's Standard Progressive Matrices (RSPM) to assess general intellectual level.…”

Section: Cognitive Deficits and Imaging Abnormalities In Dm2mentioning

confidence: 99%

The current clinical perception of myotonic dystrophy type 2

Kleefeld,

Schoser

2023

Current Opinion in Neurology

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Purpose of review Myotonic dystrophy type 2 (DM2) is a genetic disorder belonging to the spectrum of myotonic dystrophies. DM2 is characterized by progressive muscle weakness, wasting and muscle pain (myalgia), but can also affect many other organ systems. In this review, we provide an updated overview on the research literature on DM2 with a focus on the management of multisystemic involvement and atypical clinical phenotypes. Recent findings Recent studies have focused on different aspects of multisystemic involvement. Early and severe cardiac involvement can occur in DM2 and needs to be managed appropriately. Diabetes has been shown to be more common in DM2 than in DM1, while a combination of symptoms (cataracts, myotonia, tremor) can be used to raise clinical suspicion and initiate genetic testing for DM2. Autoimmune disease has been shown to occur in up to one-third of DM2 patients, possibly due to altered immune pathways. New evidence also suggests a childhood-onset phenotype presenting with foot deformities. Summary The multisystemic aspects of the disease require a multidisciplinary approach for some patients, most likely even including state-of-the-art cardiac and brain imaging to detect and treat complications earlier. Of note, our concept of DM2 as an adult-onset disease is somewhat challenged by evidence suggesting a few pediatric DM2 patients and possibly anticipation, at least in some DM2 families. More studies, including larger cohorts, are needed to better understand this possible early-onset DM2 phenotype variant.

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“…Central nervous system involvement occurs in both types of myotonic dystrophy, with type 1 being more severe and manifested by intellectual disability, reduced intelligence quotient (IQ), memory disorders, visual and hearing impairment, excessive daytime sleepiness, avoidant personality, and low self-esteem [6][7][8][9][10]. In type 2, the IQ is usually normal, while visual-spatial disturbances, excessive daytime sleepiness, and a profile of psychological disorders (avoidant personality) occur at a similar frequency as in DM1, but to a lesser degree [7,11,12].…”

Section: Introductionmentioning

confidence: 99%

Differences in diffusion tensor imaging parameters of brain white matter tracts between patients with myotonic dystrophy type 1 and type 2 — a retrospective single-centre study

Maj,

Wolak,

De Meulder

et al. 2023

Neurol Neurochir Pol.

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Introduction.The main aim of our study was to compare diffusion tensor imaging (DTI) parameters in patients with myotonic dystrophy types 1 and 2 (DM1 and DM2).Clinical rationale for the study. To ascertain whether DTI could be used to assess the integrity of white matter tracts in the brain and identify any abnormalities or disruptions in connectivity between different brain regions in patients with DM. By providing a more detailed understanding of the structural changes in the brain associated with DM, could DTI potentially be used to develop more effective treatments for the cognitive and neurological symptoms of the disorder? Material and methods. We retrospectively compared MRI scans of 19 patients with DM1 to those of 23 healthy, matched controls, and of 16 patients with DM2 to those of 20 healthy, matched controls, and finally compared the DM1 and DM2 samples. Fraction anisotropy (FA), mean diffusivity (MD), radial diffusivity (RD), and axial diffusivity (AD) values were assessed using Tract Based Spatial Statistics (TBSS).Results. In patients with DM1, a statistically significant decrease in the values of the FA parameter was revealed in 45/48 white matter tracts compared to patients with DM2. There was no statistically significant decrease in the values of the FA parameter in patients with DM2 compared to DM1. The values of MD and RD were significantly higher in 47 tracts in DM1 patients compared to DM2 patients. AD values were significantly higher in all 48 tracts in DM1 patients compared to DM2 patients. There were no tracts with increased MD, AD, or RD values in DM2 patients compared to DM1. Conclusions.Our results indicate diffuse disintegration of white matter pathways in DM patients, especially in the DM1 group. The damage to all types of fibres (association, commissural, and projection) may explain the diversity of clinical symptoms, which were more severe in the DM1 group of patients than in the DM2 group.Clinical implications. DTI in patients with DM may help us to understand the neural mechanisms underlying brain involvement during the disease. In future, it may help to identify biomarkers for disease progression and treatment response.

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Cognitive assessment in patients with myotonic dystrophy type 2

Cited by 4 publications

References 32 publications

Cognitive impairment, neuroimaging abnormalities, and their correlations in myotonic dystrophy: a comprehensive review

Cognitive impairment, neuroimaging abnormalities, and their correlations in myotonic dystrophy: a comprehensive review

The current clinical perception of myotonic dystrophy type 2

Differences in diffusion tensor imaging parameters of brain white matter tracts between patients with myotonic dystrophy type 1 and type 2 — a retrospective single-centre study

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