title: Abnormal functional brain connectivity and personality traits in myotonic dystrophy type 1.
abstract: OBJECTIVE
  Myotonic dystrophy type 1 (DM1), the most common muscular dystrophy observed in adults, is a genetic multisystem disorder affecting several other organs besides skeletal muscle, including the brain. Cognitive and personality abnormalities have been reported; however, no studies have investigated brain functional networks and their relationship with personality traits/disorders in patients with DM1.
  
  
  OBJECTIVE
  To use resting-state functional magnetic resonance imaging to assess the potential relationship between personality traits/disorders and changes to functional connectivity within the default mode network (DMN) in patients with DM1.
  
  
  METHODS
  We enrolled 27 patients with genetically confirmed DM1 and 16 matched healthy control individuals. Patients underwent personality assessment using clinical interview and Minnesota Multiphasic Personality Inventory-2 administration; all participants underwent resting-state functional magnetic resonance imaging. Investigations were conducted at the Istituto di Ricovero e Cura a Carattere Scientifico Santa Lucia Foundation, Catholic University of Sacred Heart, and Azienda Ospedaliera San Camillo Forlanini.
  
  
  METHODS
  Resting-state functional magnetic resonance imaging.
  
  
  METHODS
  Measures of personality traits in patients and changes in functional connectivity within the DMN in patients and controls. Changes in functional connectivity and atypical personality traits in patients were correlated.
  
  
  RESULTS
  We combined results obtained from the Minnesota Multiphasic Personality Inventory-2 and clinical interview to identify a continuum of atypical personality profiles ranging from schizotypal personality traits to paranoid personality disorder within our DM1 patients. We also demonstrated an increase in functional connectivity in the bilateral posterior cingulate and left parietal DMN nodes in DM1 patients compared with controls. Moreover, patients with DM1 showed strong associations between DMN functional connectivity and schizotypal-paranoid traits.
  
  
  CONCLUSIONS
  Our findings provide novel biological evidence that DM1 is a clinical condition that also involves an alteration of functional connectivity of the brain. We speculate that these functional brain abnormalities, similarly to frank psychiatric disorders, may account for the atypical personality traits observed in patients with DM1.
authors.affiliation: Neuroimaging Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Santa Lucia Foundation, Rome, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Serra
authors.affiliation: Department of Geriatrics, Orthopedics and Neuroscience, Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.
authors.forename: Gabriella
authors.initials: G
authors.lastname: Silvestri
authors.affiliation: Unità Operativa Complessa Neurologia e Neurofisiopatologia, Azienda Ospedaliera San Camillo Forlanini, Rome, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Petrucci
authors.affiliation: Neuroimaging Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Santa Lucia Foundation, Rome, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Basile
authors.affiliation: Department of Geriatrics, Orthopedics and Neuroscience, Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy4Department of Neurorehabilitation, IRCCS San Raffaele Pisana, Rome, Italy.
authors.forename: Marcella
authors.initials: M
authors.lastname: Masciullo
authors.affiliation: Neuroimaging Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Santa Lucia Foundation, Rome, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Makovac
authors.affiliation: Neuroimaging Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Santa Lucia Foundation, Rome, Italy.
authors.forename: Mario
authors.initials: M
authors.lastname: Torso
authors.affiliation: Neuroimaging Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Santa Lucia Foundation, Rome, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Spanò
authors.affiliation: Neuroimaging Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Santa Lucia Foundation, Rome, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Mastropasqua
authors.affiliation: Clinical Imaging Sciences Centre, Brighton and Sussex Medical School, University of Sussex, Brighton, England.
authors.forename: Neil A
authors.initials: NA
authors.lastname: Harrison
authors.affiliation: Department of Geriatrics, Orthopedics and Neuroscience, Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy6Fondazione Don C. Gnocchi Onlus, Milan, Italy.
authors.forename: Maria L E
authors.initials: ML
authors.lastname: Bianchi
authors.affiliation: Unità Operativa Complessa Neurologia e Neurofisiopatologia, Azienda Ospedaliera San Camillo Forlanini, Rome, Italy.
authors.forename: Manlio
authors.initials: M
authors.lastname: Giacanelli
authors.affiliation: Department of Clinical and Behavioural Neurology, IRCCS Santa Lucia Foundation, Rome, Italy8Department of Neuroscience, University of Rome Tor Vergata, Rome, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Caltagirone
authors.affiliation: Clinical Imaging Sciences Centre, Brighton and Sussex Medical School, University of Sussex, Brighton, England.
authors.forename: Mara
authors.initials: M
authors.lastname: Cercignani
authors.affiliation: Neuroimaging Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Santa Lucia Foundation, Rome, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Bozzali
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology*; D015331:Cohort Studies; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000175:diagnosis* / Q000503:physiopathology / Q000523:psychology*; D009415:Nerve Net / Q000473:pathology*; D010551:Personality / Q000502:physiology; D010555:Personality Inventory