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Lesion distribution and substrate of white matter damage in myotonic dystrophy type 1: Comparison with multiple sclerosis

  • Leddy, Sara1, 2
  • Serra, Laura3
  • Esposito, Davide1
  • Vizzotto, Camilla1
  • Giulietti, Giovanni3
  • Silvestri, Gabriella4
  • Petrucci, Antonio5
  • Meola, Giovanni6, 7
  • Lopiano, Leonardo8
  • Cercignani, Mara1, 3
  • Bozzali, Marco1, 5
  • 1 Clinical Imaging Sciences Centre, Brighton and Sussex Medical School, Brighton, United Kingdom
  • 2 Brighton and Sussex University Hospital Trust, Brighton, United Kingdom
  • 3 Neuroimaging Laboratory, Santa Lucia Foundation, Rome, Italy
  • 4 Department of Neuroscience, Fondazione Policlinico Gemelli IRCCS, Università Cattolica del S. Cuore, Rome, Italy
  • 5 UOC Neurologia e Neurofisiopatologia, AO San Camillo Forlanini, Rome, Italy
  • 6 Department of Neurorehabilitation Sciences, Casa di Cura Policlinico, Milan, Italy
  • 7 Department of Biomedical Science for Health, University of Milan, Milan, Italy
  • 8 ‘Rita Levi Montalcini’ Department of Neuroscience, University of Torino, Turin, Italy
Published Article
NeuroImage Clinical
Publication Date
Jan 14, 2021
DOI: 10.1016/j.nicl.2021.102562
PMID: 33516936
PMCID: PMC7848627
PubMed Central


Myotonic Dystrophy type 1 (DM1) is an autosomal dominant condition caused by expansion of the CTG triplet repeats within the myotonic dystrophy protein of the kinase (DMPK) gene. The central nervous system is involved in the disease, with multiple symptoms including cognitive impairment. A typical feature of DM1 is the presence of widespread white matter (WM) lesions, whose total volume is associated with CTG triplet expansion. The aim of this study was to characterize the distribution and pathological substrate of these lesions as well as the normal appearing WM (NAWM) using quantitative magnetization transfer (qMT) MRI, and comparing data from DM1 patients with those from patients with multiple sclerosis (MS). Twenty-eight patients with DM1, 29 patients with relapsing-remitting MS, and 15 healthy controls had an MRI scan, including conventional and qMT imaging. The average pool size ratio (F), a proxy of myelination, was computed within lesions and NAWM for every participant. The lesion masks were warped into MNI space and lesion probability maps were obtained for each patient group. The lesion distribution, total lesion load and the tissue-specific mean F were compared between groups. The supratentorial distribution of lesions was similar in the 2 patient groups, although mean lesion volume was higher in MS than DM1. DM1 presented higher prevalence of anterior temporal lobe lesions, but none in the cerebellum and brainstem. Significantly reduced F values were found within DM1 lesions, suggesting a loss of myelin density. While F was reduced in the NAWM of MS patients, it did not differ between DM1 and controls. Our results provide further evidence for a need to compare histology and imaging using new MRI techniques in DM1 patients, in order to further our understanding of the underlying disease process contributing to WM disease.

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