How genetics affects the brain to produce higher-level dysfunctions in myotonic dystrophy type 1

Laura Serra, Antonio Petrucci, Barbara Spanò, Mario Torso, Giusy Olivito, Ludovico Lispi, Sandro Costanzi-Porrini, Giovanni Giulietti, Giacomo Koch, Manlio Giacanelli, Carlo Caltagirone, Mara Cercignani, Marco Bozzali

Research output: Contribution to journalArticlepeer-review


Myotonic dystrophy type 1 (DM1) is a multisystemic disorder dominated by muscular impairment and brain dysfunctions. Although brain damage has previouslybeen demonstrated in DM1, its associations with the genetics and clinical/neuropsychological features of the disease are controversial. This study assessed the differential role of gray matter (GM) and white matter (WM) damage in determining higher-level dysfunctions in DM1. Ten patients with genetically confirmed DM1 and 16 healthy matched controls entered the study. The patients underwent a neuropsychological assessment and quantification of CTG triplet expansion. All the subjects underwent MR scanning at 3T, with studies including T1-weighted volumes and diffusion-weighted images. Voxel-based morphometry and tractbased spatial statistics were used for unbiased quantification of regional GM atrophy and WM integrity. The DM1 patients showed widespread involvement of both tissues. The extent of the damage correlated with CTG triplet expansion and cognition. This study supports the idea that genetic abnormalities in DM1mainly target the WM, but GM involvement is also crucial in determining the clinical characteristics of DM1.

Original languageEnglish
Pages (from-to)21-31
Number of pages11
JournalFunctional Neurology
Issue number1
Publication statusPublished - Jul 30 2015


  • Cognition
  • Diffusion imaging
  • DM1
  • Genetics
  • VBM

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)


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