Observational studyNeuroradiology2021
Longitudinal study in patients with myotonic dystrophy type 1: correlation of brain MRI abnormalities with cognitive performances.
Observational study in Neuroradiology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Cognitive decline over time in myotonic dystrophy type 1: a systematic review of longitudinal studies.Frontiers in neurology · 2026Pooled it
- Myotonic dystrophy type 1: clinical diversity, molecular insights and therapeutic perspectives.Nature reviews. Neurology · 2025Review
- Theory of Mind in Myotonic Dystrophy Type 1 Is Associated With Cortical Gyrification and White Matter Hyperintensities.European journal of neurology · 2025Article
- Two distinct trajectories of brain volume loss in myotonic dystrophy type 1 via machine learning.Brain communications · 2025Article
- Common Characteristics Between Frailty and Myotonic Dystrophy Type 1: A Narrative Review.Aging and disease · 2024Review
- Greater cortical thinning and microstructural integrity loss in myotonic dystrophy type 1 compared to myotonic dystrophy type 2.Journal of neurology · 2024Article
- Neurocognitive disorder in Myotonic dystrophy type 1.Heliyon · 2024Article
- Cognitive impairment, neuroimaging abnormalities, and their correlations in myotonic dystrophy: a comprehensive review.Frontiers in cellular neuroscience · 2024Review
- Longitudinal changes in white matter as measured with diffusion tensor imaging in adult-onset myotonic dystrophy type 1.Neuromuscular disorders : NMD · 2023Article
- Fluid Biomarkers of Central Nervous System (CNS) Involvement in Myotonic Dystrophy Type 1 (DM1).International journal of molecular sciences · 2023Review
- Longitudinal Changes in Neuropsychological Functioning in Japanese Patients with Myotonic Dystrophy Type 1: A Five Year Follow-Up Study.Journal of neuromuscular diseases · 2023Article
- In Vivo Parieto-Occipital White Matter Metabolism Is Correlated with Visuospatial Deficits in Adult DM1 Patients.Diagnostics (Basel, Switzerland) · 2022Article
- White matter integrity changes and neurocognitive functioning in adult-late onset DM1: a follow-up DTI study.Scientific reports · 2022Article
- Gray Matter Abnormalities in Myotonic Dystrophy Type 1: A Voxel-Wise Meta-Analysis.Frontiers in neurology · 2022Article
- Cognitive Deficits, Apathy, and Hypersomnolence Represent the Core Brain Symptoms of Adult-Onset Myotonic Dystrophy Type 1.Frontiers in neurology · 2021Article
- Brain Pathogenesis and Potential Therapeutic Strategies in Myotonic Dystrophy Type 1.Frontiers in aging neuroscience · 2021Review
- Altered Local Brain Amplitude of Fluctuations in Patients With Myotonic Dystrophy Type 1.Frontiers in aging neuroscience · 2021Article
Corrections and comments
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Authors and funding
9 authors.
Funding
Abstract
purposeMyotonic dystrophy type 1 (DM1) is a muscular dystrophy with neurological, cognitive, and radiological abnormalities. The developmental or degenerative nature of these abnormalities, and their progression over time, remains unclear. The aim of this study is to perform a longitudinal assessment of imaging and cognitive performances in a group of patients with DM1.
methodsA longitudinal observational study was conducted in a group of 33 DM1 patients. All patients underwent cognitive and MRI evaluation, including the use of structural and diffusion tensor imaging techniques, at baseline and follow-up evaluation (4 years). Longitudinal changes in white matter lesion (WML), volumetric analysis, and diffusivity values were assessed and correlated with neuropsychological test findings.
resultsAn increase in WML was observed in 16 patients (48.5%). An increase in ventricular system volume and a decrease in volume of the left thalamus, caudates, putamen, and hippocampus were observed (p < 0.001). Global cortical volume showed a significant decrease (p < 0.001), although no changes were observed in white matter volume. A significant increase in mean diffusivity and decrease in fractional anisotropy for the white matter were found (p < 0.001). Neuropsychological evaluation showed a significant deterioration in test performance that measures working memory (Letter-Number Sequencing, p = 0.049) and visuospatial skills (Benton Visual Retention Test, p = 0.001). These findings were significantly associated with WML load (working memory p = 0.002 and visuospatial skills p = 0.021) and mean diffusivity increase (visuospatial skills p = 0.003 in the corpus callosum and working memory p = 0.043 in the right cerebral white matter).
conclusionWhite matter and grey matter involvement in DM1 patients is progressive. Patients experience a worsening in cognitive impairment that correlates with white matter involvement. These findings support the neurodegenerative nature of this disease.
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Registered trials
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