Brain pathogenesis and potential therapeutic strategies in myotonic dystrophy type 1

J Liu, ZN Guo, XL Yan, Y Yang… - Frontiers in aging …, 2021 - frontiersin.org
Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy that affects
multiple systems including the muscle and heart. The mutant CTG expansion at the 3′-UTR …

Central nervous system involvement as outcome measure for clinical trials efficacy in myotonic dystrophy type 1

C Simoncini, G Spadoni, E Lai, L Santoni… - Frontiers in …, 2020 - frontiersin.org
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 …

White matter integrity changes and neurocognitive functioning in adult-late onset DM1: a follow-up DTI study

G Labayru, B Camino, A Jimenez-Marin… - Scientific Reports, 2022 - nature.com
Abstract Myotonic Dystrophy Type 1 (DM1) is a multisystemic disease that affects gray and
white matter (WM) tissues. WM changes in DM1 include increased hyperintensities and …

Longitudinal study in patients with myotonic dystrophy type 1: correlation of brain MRI abnormalities with cognitive performances

T Cabada, J Díaz, M Iridoy, P López, I Jericó… - Neuroradiology, 2021 - Springer
Purpose Myotonic dystrophy type 1 (DM1) is a muscular dystrophy with neurological,
cognitive, and radiological abnormalities. The developmental or degenerative nature of …

Cognitive deficits, apathy, and hypersomnolence represent the core brain symptoms of adult-onset myotonic dystrophy type 1

JN Miller, A Kruger, DJ Moser, L Gutmann… - Frontiers in …, 2021 - frontiersin.org
Myotonic dystrophy type 1 is the most common form of muscular dystrophy in adults, and is
primarily characterized by muscle weakness and myotonia, yet some of the most disabling …

Neurodegeneration trajectory in pediatric and adult/late DM1: A follow‐up MRI study across a decade

G Labayru, A Jimenez‐Marin… - Annals of clinical …, 2020 - Wiley Online Library
Objective To characterize the progression of brain structural abnormalities in adults with
pediatric and adult/late onset DM1, as well as to examine the potential predictive markers of …

Transcriptional signatures of synaptic vesicle genes define myotonic dystrophy type I neurodegeneration

A Jimenez‐Marin, I Diez, G Labayru… - Neuropathology and …, 2021 - Wiley Online Library
Aim To delineate the neurogenetic profiles of brain degeneration patterns in myotonic
dystrophy type I (DM1). Methods In two cohorts of DM1 patients, brain maps of volume loss …

In vivo Parieto-occipital white matter metabolism is correlated with visuospatial deficits in adult DM1 patients

S Evangelisti, LL Gramegna, S De Pasqua, MJ Rochat… - Diagnostics, 2022 - mdpi.com
Myotonic dystrophy type 1 (DM1) is a genetic disorder caused by a (CTG) expansion in the
DM protein kinase (DMPK) gene, representing the most common adult muscular dystrophy …

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

Y Wu, Q Wei, J Lin, H Shang, R Ou - Frontiers in Cellular …, 2024 - frontiersin.org
Myotonic dystrophy (DM) encompasses a spectrum of neuromuscular diseases
characterized by myotonia, muscle weakness, and wasting. Recent research has led to the …

Tau positron emission tomography, cerebrospinal fluid and plasma biomarkers of neurodegeneration, and neurocognitive testing: an exploratory study of participants …

RJ Laforce, C Dallaire-Théroux, AM Racine, G Dent… - Journal of …, 2022 - Springer
Abstract Objective To investigate Tau pathology using multimodal biomarkers of
neurodegeneration and neurocognition in participants with myotonic dystrophy type 1 …