Laura Serra1, Gabriella Silvestri2, Antonio Petrucci3, Barbara Basile1, Marcella Masciullo4, Elena Makovac1, Mario Torso1, Barbara Spanò1, Chiara Mastropasqua1, Neil A Harrison5, Maria L E Bianchi6, Manlio Giacanelli3, Carlo Caltagirone7, Mara Cercignani5, Marco Bozzali1. 1. Neuroimaging Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Santa Lucia Foundation, Rome, Italy. 2. Department of Geriatrics, Orthopedics and Neuroscience, Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy. 3. Unità Operativa Complessa Neurologia e Neurofisiopatologia, Azienda Ospedaliera San Camillo Forlanini, Rome, Italy. 4. Department of Geriatrics, Orthopedics and Neuroscience, Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy4Department of Neurorehabilitation, IRCCS San Raffaele Pisana, Rome, Italy. 5. Clinical Imaging Sciences Centre, Brighton and Sussex Medical School, University of Sussex, Brighton, England. 6. Department of Geriatrics, Orthopedics and Neuroscience, Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy6Fondazione Don C. Gnocchi Onlus, Milan, Italy. 7. Department of Clinical and Behavioural Neurology, IRCCS Santa Lucia Foundation, Rome, Italy8Department of Neuroscience, University of Rome Tor Vergata, Rome, Italy.
Abstract
IMPORTANCE: 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. DESIGN, SETTING, AND PARTICIPANTS: 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. INTERVENTION: Resting-state functional magnetic resonance imaging. MAIN OUTCOMES AND MEASURES: 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 AND RELEVANCE: 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.
IMPORTANCE: 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. DESIGN, SETTING, AND PARTICIPANTS: 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. INTERVENTION: Resting-state functional magnetic resonance imaging. MAIN OUTCOMES AND MEASURES: 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 DM1patients. We also demonstrated an increase in functional connectivity in the bilateral posterior cingulate and left parietal DMN nodes in DM1patients compared with controls. Moreover, patients with DM1 showed strong associations between DMN functional connectivity and schizotypal-paranoid traits. CONCLUSIONS AND RELEVANCE: 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: Carla Ramon-Duaso; Thomas Gener; Marta Consegal; Cristina Fernández-Avilés; Juan José Gallego; Laura Castarlenas; Maurice S Swanson; Rafael de la Torre; Rafael Maldonado; M Victoria Puig; Patricia Robledo Journal: Cereb Cortex Date: 2019-07-05 Impact factor: 5.357
Authors: T Cabada; J Díaz; M Iridoy; P López; I Jericó; P Lecumberri; B Remirez; R Seijas; M Gomez Journal: Neuroradiology Date: 2020-11-25 Impact factor: 2.804
Authors: Laura Serra; Mara Cercignani; Michela Bruschini; Lisa Cipolotti; Matteo Mancini; Gabriella Silvestri; Antonio Petrucci; Elisabetta Bucci; Giovanni Antonini; Loretta Licchelli; Barbara Spanò; Manlio Giacanelli; Carlo Caltagirone; Giovanni Meola; Marco Bozzali Journal: PLoS One Date: 2016-06-03 Impact factor: 3.240
Authors: Laura Serra; Matteo Mancini; Gabriella Silvestri; Antonio Petrucci; Marcella Masciullo; Barbara Spanò; Mario Torso; Chiara Mastropasqua; Manlio Giacanelli; Carlo Caltagirone; Mara Cercignani; Giovanni Meola; Marco Bozzali Journal: Neural Plast Date: 2016-05-25 Impact factor: 3.599