Antineural antibody in patients with Tourette's syndrome and their family members.

Department of Psychiatry, Tri-Service General Hospital, Taipei, Taiwan.
Journal of Biomedical Science (Impact Factor: 2.46). 02/2006; 13(1):101-12. DOI: 10.1007/s11373-005-9033-y
Source: PubMed

ABSTRACT It has been proposed that antineural antibodies were present in patients with Tourette's syndrome (TS) and other neuropsychiatric disorders. The purpose of our study was to investigate the presence of antineural antibodies in the individuals with Tourette's syndrome and the family members of TS patients. The sera of four TS patients with no current streptococcal infection, their tic-free family members including father, mother and sibling, and a age-matched control group who were tic free were assayed for antineural antibodies directed against rat tissue and neurons in primary cell culture. There were prominent antineural antibodies present in TS patients and their first-degree family members, but not in the control group. Western blotting showed proteins of about 120 kDa in their sera that were not present in the sera of controls. The preliminary results of our study suggest the importance of genetic vulnerability in the immunological pathophysiology of tic disorders. Future studies should investigate the interactions of genetics, environment, infectious agents, and immunity on symptom expression in families with tic disorders.

  • [Show abstract] [Hide abstract]
    ABSTRACT: We previously found that antibodies in Tourette's syndrome (TS) patients' sera reacted with a 120 kDa protein from rat brain tissue. Here, we sought to identify this protein and determine if it was involved in TS pathogenesis. The 120 kDa protein was identified using immunoprecipitation, Western blotting, and mass spectrometry. ELISAs were used to quantify anti-120 kDa protein antibodies in serum of interest using samples from 32 TS patients, 47 patients with attention deficit hyperactivity disorder (ADHD) and 14 healthy controls. Involvement of the 120 kDa protein in TS was confirmed using co-localisation assays with GH3 cells. TS sera were micro-infused into SD rats' brain striatum and their stereotypical behaviours were monitored. The brain protein was identified as hyperpolarisation-activated cyclic nucleotide channel 4 (HCN4). TS patients' sera contained significantly more anti-HCN4 antibodies than ADHD patient and control sera. After microinfusing TS serum, SD rats exhibited increased stereotyped tic behaviours, which were correlated with the amount of infused anti-HCN4 antibody. Anti-HCN4 antibodies in the brain might contribute to the pathogenesis of tic symptoms in TS patients. However, further studies are needed to investigate the validity of this animal model of TS induced by microinfusing anti-HCN4 antibody.
    Journal of neuroimmunology 06/2012; 250(1-2):18-26. · 2.84 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: The following is a review of the most recent research concerning the potential role of immune system dysfunction in autism. This body of literature has expanded dramatically over the past few years as researchers continue to identify immune anomalies in individuals with autism. The most exciting of these recent findings is the discovery of autoantibodies targeting brain proteins in both children with autism and their mothers. In particular, circulating maternal autoantibodies directed toward fetal brain proteins are highly specific for autism. This finding has great potential as a biomarker for disease risk and may provide an avenue for future therapeutics and prevention. Additionally, data concerning the cellular immune system in children with autism suggest there may be a defect in signaling pathways that are shared by the immune and central nervous systems. Although studies to explore this hypothesis are ongoing, there is great interest in the commonalities between the neural and immune systems and their extensive interactions. In summary, the exciting research regarding the role of the immune system in autism spectrum disorders may have profound implications for diagnosis and treatment of this devastating disease.
    Current opinion in neurology 02/2010; 23(2):111-7. · 5.43 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Genetic, environmental, immunological, and hormonal factors contribute to the etiology of Tourette syndrome (TS). From the genetic standpoint, TS is a heterogeneous disorder. In our previous study, we found that a single nucleotide polymorphism (SNP) of x-ray repair cross-complementing group 1 (XRCC1), a DNA repair gene, was associated with TS. Previous studies also showed that tyrosyl-DNA phosphodiesterase 1 (TDP1) interacts with XRCC1 to repair damaged DNA. However, the relationship between TS and SNPs of TDP1 gene is unknown. Therefore, the aim of this study was to test the hypothesis that if the TDP1 SNP, rs28365054 (c.400G>A, Ala134Thr), was associated with TS or not. A case-control study was designed to test the hypothesis. A total of 122 TS children and 106 normal children participated in the study. We used polymerase chain reaction to identify the SNP, rs28365054, of the TDP1 gene in the TS patients and the normal children. A polymorphism at position rs28365054 in the TDP1 gene had a significant difference (P < 0.05) in the genotype distributions between the TS patients and the control group. The AG genotype was a risk factor for TS with an odds ratio of 2.26 for the AG versus AA genotype (95% CI 1.08-4.72). The findings of this study suggested that variants in the TDP1 gene might play a role in TS susceptibility.
    Journal of Clinical Laboratory Analysis 07/2013; 27(4):323-7. · 1.36 Impact Factor


Available from