Objective: The overall goal was to delineate which aspects of the immune system may be most relevant to the biology of CD.

Background: Although several potential causes have been identified for cervical dystonia (CD), the vast majority of cases are idiopathic.  Prior studies have suggested a relationship between CD and autoimmune disease, suggesting immune and inflammatory mechanisms may play a pathogenic role in a subgroup of cases.

Method: The methods included a broad anti-neuronal antibody screen, a multiplex immunoassay investigating 37 immunological markers, analysis of the relative immune cell frequencies by flow cytometry, transcriptomics, and sequencing of HLA alleles related to autoimmune disorders.  For each of these methods, different numbers of subjects were available.  Where possible, CD subjects were divided into subgroups with or without coincidental autoimmune thyroid disease to enrich for a population where immune mechanisms might be relevant.

Results: Screening for anti-neuronal antibodies did not reveal significant differences between CD (N=58) and controls (N=30).  Blood based transcriptomic studies revealed abnormalities in immune and inflammatory pathways in CD (N=20) versus controls (N=10), and the multiplex assay pointed more specifically towards abnormal T cell signaling in CD (M=20) versus controls (N=20).  Flow cytometry analysis revealed more than a third of CD cases (N=20) versus matched controls (N=20) had changes in the relative frequencies of monocytes, B cells, and T cell subsets. Sequencing HLA alleles indicated a possible association of CD (N=20) versus controls (N=20) with DRB1*15:03, which is reported to mediate the penetrance of autoimmune disorders.

Conclusion: Altogether, the association of CD and blood-based immune measures point to abnormalities in cell-mediated immune mechanisms. Further studies with larger numbers of cases investigating immune cell subset function are needed to further delineate this subgroup. Ultimately, these studies may guide the development of novel biomarkers or treatment strategies targeting the immune system.

« Back to 2024 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/a-survey-of-immunological-mechanisms-in-cervical-dystonia/