Session Information
Date: Monday, September 23, 2019
Session Title: Functional (Psychogenic) Movement Disorders
Session Time: 1:45pm-3:15pm
Location: Les Muses Terrace, Level 3
Objective: The aim of this study was to evaluate the relationship between single nucleotide polymorphisms (SNPs) at the level of stress-related genes, childhood trauma, and several phenotypical characteristics of FMD.
Background: Several phenotypical characteristics of Functional Movement Disorders (FMD), such as increased stress reactivity, hyperarousal and increased amygdala reactivity, are observed in stress-related disorders, suggesting they may share overlapping neurobiological substrates. A large number of studies has indicated that genetic variations at the level of stress-related genes contribute, directly and interactively with childhood trauma, to the prevalence and clinical presentation of these disorders. While the role of stress and trauma has been largely studied in FMD with mixed results, to date no study has investigated the effects of these genetic variations, and their interaction with childhood trauma, on FMD phenotype.
Method: Seventy-two patients with a diagnosis of ‘clinically defined’ FMD were recruited. In addition to medical and neurological examination, an extensive psychiatric and psychological evaluation was performed, including the administration of the Beck Depression Inventory (BDI), the Childhood Trauma Questionnaire (CTQ), and the State Trait Anxiety Inventory (STAI). Participants were genotyped using the Illumina OmniExpress BeadChip array (Illumina, San Diego, CA, USA) including more than 700,000 SNPs. Ancestry was determined via a genome-wide panel of ancestry informative markers.
Results: Among the SNPs analyzed, we found that a tryptophan hydroxylase 2 (TPH2) gene polymorphism (rs4570625) was significantly associated with earlier age of onset of FMD, and increased FMD disability and severity scores. Furthermore, this TPH2 polymorphism significantly interacted with CTQ in predicting the age of onset of FMD. We also found a significant interaction between CTQ and a C-Reactive Protein gene polymorphism (rs1130864) on FMD severity and on comorbid diagnosis of anxiety disorders. Finally, we found a significant effect of CTQ on FMD age of onset and severity, as well as on depressive symptoms and self-reported anxiety levels.
Conclusion: To the best of our knowledge, this is the first study showing that genetic variations in genes involved in stress response and childhood trauma directly and interactively modulate the phenotype exhibited by patients with FMD.
To cite this abstract in AMA style:
P. Spagnolo, C. Maurer, G. Norato, C. Hodgkinson, M. Hallett. The role of stress-related genes and childhood trauma in the clinical phenotype of Functional Movement Disorders [abstract]. Mov Disord. 2019; 34 (suppl 2). https://www.mdsabstracts.org/abstract/the-role-of-stress-related-genes-and-childhood-trauma-in-the-clinical-phenotype-of-functional-movement-disorders/. Accessed June 14, 2025.« Back to 2019 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/the-role-of-stress-related-genes-and-childhood-trauma-in-the-clinical-phenotype-of-functional-movement-disorders/