Brain Connectomics' Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1

Laura Serra, Matteo Mancini, Gabriella Silvestri, Antonio Petrucci, Marcella Masciullo, Barbara Spano', Mario Torso, Chiara Mastropasqua, Manlio Giacanelli, Carlo Caltagirone, Mara Cercignani, Giovanni Meola, Marco Bozzali

Research output: Contribution to journalArticlepeer-review

Abstract

The adult form of myotonic dystrophy type 1 (DM1) presents with paradoxical inconsistencies between severity of brain damage, relative preservation of cognition, and failure in everyday life. This study, based on the assessment of brain connectivity and mechanisms of plasticity, aimed at reconciling these conflicting issues. Resting-state functional MRI and graph theoretical methods of analysis were used to assess brain topological features in a large cohort of patients with DM1. Patients, compared to controls, revealed reduced connectivity in a large frontoparietal network that correlated with their isolated impairment in visuospatial reasoning. Despite a global preservation of the topological properties, peculiar patterns of frontal disconnection and increased parietal-cerebellar connectivity were also identified in patients' brains. The balance between loss of connectivity and compensatory mechanisms in different brain networks might explain the paradoxical mismatch between structural brain damage and minimal cognitive deficits observed in these patients. This study provides a comprehensive assessment of brain abnormalities that fit well with both motor and nonmotor clinical features experienced by patients in their everyday life. The current findings suggest that measures of functional connectivity may offer the possibility of characterizing individual patients with the potential to become a clinical tool.

Original languageEnglish
Article number2696085
JournalNeural Plasticity
Volume2016
DOIs
Publication statusPublished - 2016

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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