SynthesisNeuropathology : official journal of the Japanese Society of Neuropathology2021
Human brain pathology in myotonic dystrophy type 1: A systematic review.
Synthesis in Neuropathology : official journal of the Japanese Society of Neuropathology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- Cognitive decline over time in myotonic dystrophy type 1: a systematic review of longitudinal studies.Frontiers in neurology · 2026Pooled it
- Annual assessment of ECG intervals in patients with myotonic dystrophy type 1 using a mobile 6‑lead ECG device: TeleCheck-DM1.International journal of cardiology. Heart & vasculature · 2026Article
- Quantitative susceptibility mapping in myotonic dystrophy: clinical relevance of subcortical iron accumulation.Brain communications · 2026Article
- Plasma Neurofilament Light Chain and Phosphorylated Tau Are Elevated in Myotonic Dystrophy Type 1.Journal of clinical medicine · 2025Article
- 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
- In Myotonic Dystrophy Type 1 Head Repositioning Errors Suggest Impaired Cervical Proprioception.Journal of clinical medicine · 2024Article
- Heterogeneity of cognitive impairments in myotonic dystrophy type 1 explained by three distinct cognitive profiles.Journal of neurology · 2024Article
- The six brain-specific TAU isoforms and their role in Alzheimer's disease and related neurodegenerative dementia syndromes.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Review
- Transcranial brain parenchyma sonographic findings in patients with myotonic dystrophy type 1 and 2.Heliyon · 2024Article
- Cognitive impairment, neuroimaging abnormalities, and their correlations in myotonic dystrophy: a comprehensive review.Frontiers in cellular neuroscience · 2024Review
- The Role of Cognition, Affective Symptoms, and Apathy in Treatment Adherence with Noninvasive Home Mechanical Ventilation in Myotonic Dystrophy.Journal of neuromuscular diseases · 2024Article
- A cyclic pyrrole-imidazole polyamide reduces pathogenic RNA in CAG/CTG triplet repeat neurological disease models.The Journal of clinical investigation · 2023Article
- Application of Antisense Conjugates for the Treatment of Myotonic Dystrophy Type 1.International journal of molecular sciences · 2023Review
- Fluid Biomarkers of Central Nervous System (CNS) Involvement in Myotonic Dystrophy Type 1 (DM1).International journal of molecular sciences · 2023Review
- Central Bradypnea and Ataxic Breathing in Myotonic Dystrophy Type 1 - A Clinical Case Report.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
- Elevated serum Neurofilament Light chain (NfL) as a potential biomarker of neurological involvement in Myotonic Dystrophy type 1 (DM1).Journal of neurology · 2022Article
- Cellular Senescence and Aging in Myotonic Dystrophy.International journal of molecular sciences · 2022Review
- DM1 Transgenic Mice Exhibit Abnormal Neurotransmitter Homeostasis and Synaptic Plasticity in Association with RNA Foci and Mis-Splicing in the Hippocampus.International journal of molecular sciences · 2022Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Brain involvement in myotonic dystrophy type 1 (DM1) is characterized by heterogeneous cognitive, behavioral, and affective symptoms and imaging alterations indicative of widespread grey and white matter involvement. The aim of the present study was to systematically review the literature on brain pathology in DM1. We conducted a structured search in EMBASE (index period 1974-2017) and MEDLINE (index period 1887-2017) on December 11, 2017, using free text and index search terms related to myotonic dystrophy type 1 and brain structures or regions. Eligible studies were full-text studies reporting on microscopic brain pathology of DM1 patients without potentially interfering comorbidity. We discussed the findings based on the anatomical region and the nature of the anomaly. Neuropathological findings in DM1 can be classified as follows: (1) protein and nucleotide deposits; (2) changes in neurons and glial cells; and (3) white matter alterations. Most findings are unspecific to DM1 and may occur with physiological aging, albeit to a lesser degree. There are similarities and contrasts with Alzheimer's disease; both show the appearance of neurofibrillary tangles in the limbic system without plaque occurrence. Likewise, there is myelin loss and gliosis, and there are dilated perivascular spaces in the white matter resemblant of cerebral small vessel disease. However, we did not find evidence of lacunar infarction or microbleeding. The various neuropathological findings in DM1 are reflective of the heterogeneous clinical and neuroimaging features of the disease. The strength of conclusions from this study's findings is bounded by limited numbers of participants in studies, methodological constraints, and lack of assessed associations between histopathology and clinical or neuroimaging findings.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.