Neuroimaging Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Santa Lucia Foundation, Rome, Italy.
Department of Geriatrics, Orthopedics and Neuroscience, Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.
JAMA Neurol. 2014 May;71(5):603-11. doi: 10.1001/jamaneurol.2014.130.
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.
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.
Resting-state functional magnetic resonance imaging.
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.
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.
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.
1 型肌强直性营养不良（DM1）是成年人中最常见的肌肉营养不良症，是一种遗传多系统疾病，除了骨骼肌外，还会影响其他几个器官，包括大脑。已经报道了认知和人格异常；然而，尚无研究调查 DM1 患者的脑功能网络及其与人格特征/障碍的关系。
使用静息态功能磁共振成像来评估 DM1 患者人格特征/障碍与默认模式网络（DMN）内功能连接变化之间的潜在关系。
设计、地点和参与者：我们纳入了 27 名经基因证实的 DM1 患者和 16 名匹配的健康对照者。患者通过临床访谈和明尼苏达多相人格问卷-2 进行人格评估；所有参与者均接受静息态功能磁共振成像检查。研究在圣路加基金会罗马天主教圣心大学圣心研究医院和圣卡米洛福拉尼尼医院进行。
静息态功能磁共振成像。
患者的人格特征测量值以及患者和对照组 DMN 内功能连接的变化。患者的功能连接变化与非典型人格特征相关。
我们结合明尼苏达多相人格问卷-2 和临床访谈的结果，在我们的 DM1 患者中确定了从精神分裂样人格特征到偏执型人格障碍的非典型人格特征连续谱。我们还证明，与对照组相比，DM1 患者双侧后扣带回和左顶叶 DMN 节点的功能连接增加。此外，DM1 患者的 DMN 功能连接与精神分裂样-偏执特征之间存在强烈关联。
我们的研究结果提供了新的生物学证据，表明 DM1 不仅是一种涉及大脑功能连接改变的临床疾病。我们推测，这些功能性大脑异常与明显的精神障碍类似，可能解释了 DM1 患者观察到的非典型人格特征。
