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Original Investigation |

Abnormal Functional Brain Connectivity and Personality Traits in Myotonic Dystrophy Type 1

Laura Serra, PhD1; Gabriella Silvestri, MD2; Antonio Petrucci, MD3; Barbara Basile, PhD1; Marcella Masciullo, MD2,4; Elena Makovac, PhD1; Mario Torso, PsyD1; Barbara Spanò, MD, PhD1; Chiara Mastropasqua, MSc1; Neil A. Harrison, MBBS, PhD5; Maria L. E. Bianchi, MD2,6; Manlio Giacanelli, MD3; Carlo Caltagirone, MD7,8; Mara Cercignani, PhD5; Marco Bozzali, MD1
[+] Author Affiliations
1Neuroimaging Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Santa Lucia Foundation, Rome, Italy
2Department of Geriatrics, Orthopedics and Neuroscience, Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy
3Unità Operativa Complessa Neurologia e Neurofisiopatologia, Azienda Ospedaliera San Camillo Forlanini, Rome, Italy
4Department of Neurorehabilitation, IRCCS San Raffaele Pisana, Rome, Italy
5Clinical Imaging Sciences Centre, Brighton and Sussex Medical School, University of Sussex, Brighton, England
6Fondazione Don C. Gnocchi Onlus, Milan, Italy
7Department of Clinical and Behavioural Neurology, IRCCS Santa Lucia Foundation, Rome, Italy
8Department of Neuroscience, University of Rome Tor Vergata, Rome, Italy
JAMA Neurol. 2014;71(5):603-611. doi:10.1001/jamaneurol.2014.130.
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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.

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Figure 1.
Distribution of Elevated Minnesota Multiphasic Personality Inventory-2 (MMPI-2) Scale Scores in Patients With Myotonic Dystrophy Type 1 (DM1)

A, The number of DM1 patients with elevated T scores (>65) in the different MMPI-2 Clinical scales. B, The number of DM1 patients with elevated T scores (>65) in the different Harris-Lingoes Clinical subscales. D indicates Depression; Hs, Hypochondriasis; Hy, Hysteria; Ma, Hypomania; Mf, Masculinity/Femininity; Pa, Paranoia; Pd, Psychopathic Deviate; Pt, Psychasthenia; Sc, Schizophrenia; Si, Social Introversion. Harris-Lingoes Clinical subscales include D1, Subjective Depression; D2, Psychomotor Retardation; D3, Physical Malfunctioning; D4, Mental Dullness; D5, Brooding; Hy1, Denial of Social Anxiety; Hy2, Need for Affection; Hy3, Lassitude-Malaise; Hy4, Somatic Complaints; Hy5, Inhibition of Aggression; Ma1, Amorality; Ma2, Psychomotor Acceleration; Ma3, Imperturbability; Ma4, Ego Inflation; Pa1, Persecutory Ideas; Pa2, Poignancy; Pa3, Naïveté; Pd1, Familial Discord; Pd2, Authority Problems; Pd3, Social Imperturbability; Pd4, Social Alienation; Pd5, Self-alienation; Sc1, Social Alienation; Sc2, Emotional Alienation; Sc3, Lack of Ego Mastery–Cognitive; Sc4, Lack of Ego Mastery–Conative; Sc5, Lack of Ego Mastery–Defective Inhibition; and Sc6, Bizarre Sensory Experiences.

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Figure 2.
Conventional Magnetic Resonance Imaging (MRI) of a Patient With Myotonic Dystrophy Type 1 (DM1) Compared With a Healthy Control

Macroscopic abnormalities typically detected in patients with DM1. A, Fluid-attenuated inversion recovery (FLAIR), T2-weighted, and modified driven equilibrium Fourier transformation (MDEFT) images from a representative patient of our cohort. B, A similar set of images obtained from an age- and sex-matched healthy control. Abnormalities include white matter hyperintensities in T2-weighted and FLAIR images, with a predominant distribution to the temporal areas, and signs of diffuse atrophy. R indicates right.

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Figure 3.
Pattern of Reduced Functional Connectivity (FC) in Patients With Myotonic Dystrophy Type 1 (DM1)

The main effect of default mode network (DMN) FC (blue) across participants (DM1 patients and healthy controls [HS]). In addition, those DMN areas in which DM1 patients, compared with controls, have a significant increase in FC (red) are shown (P < .05, family-wise error [FWE] corrected [Corr] at the cluster level). The scatterplot shows the between-group difference in FC in a cluster located in the posterior cingulate cortex. The results are overlaid on the SPM8 (Statistical Parametric Mapping 8) T1-weighted template in the Montreal Neurological Institute (MNI) coordinates. L indicates left.

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Figure 4.
Positive Effect of the Minnesota Multiphasic Personality Inventory-2 (MMPI-2) 8-6-1 Code-Type Component (CTc) Score on Default Mode Network (DMN) Functional Connectivity (FC) in Patients With Myotonic Dystrophy Type 1

Positive association (P < .05, family-wise error [FWE] corrected [Corr] at cluster level) between DMN FC and the most frequent cluster of personality traits on the MMPI-2 Clinical scales (Schizophrenia-Paranoia-Hypochondriasis [8-6-1 CTc score]). The results are overlaid on the SPM 8 (Statistical Parametric Mapping 8) T1-weighted template in the Montreal Neurological Institute (MNI) coordinates. L indicates left.

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Figure 5.
Negative Effect of the Minnesota Multiphasic Personality Inventory-2 (MMPI-2) 8-6-1 Code-Type Component (CTc) Score on Default Mode Network (DMN) Functional Connectivity (FC) in Patients With Myotonic Dystrophy Type 1

Negative association (P < .05, family-wise error [FWE] corrected [Corr] at cluster level) between DMN FC and the most frequent cluster of personality traits on the MMPI-2 Clinical scales (Schizophrenia-Paranoia-Hypochondriasis [8-6-1 CTc score]). The results are overlaid on the SPM 8 (Statistical Parametric Mapping 8) T1-weighted template in the Montreal Neurological Institute (MNI) coordinates. L indicates left.

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