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Spinal Cord Disease
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
HIV antibody testing: ACE: sarcoidosis.NMO antibody to aquaporin-4 for NMO.MOG antibodyParaneoplastic antibodies: Amphiphysin.CRMP-5.Glutamic acid decarboxylase (GAD) (stiff person syndrome: can be positive in either paraneoplastic or primary autoimmune presentations).
Autoimmune disorders that can be mistaken for viral illness
Published in Avindra Nath, Joseph R. Berger, Clinical Neurovirology, 2020
Maxwell Greene, Eric Lancaster
Autoantibodies to amphiphysin are found in some patients with stiff person syndrome. Small cell lung cancer and breast cancers are common. There is a high incidence (about 2/3 of patients) of patients with antibodies to amphiphysin who also have the concomitant presence of other autoantibodies [45].
Companion Diagnostics for Oncogenic Fusion Proteins
Published in Il-Jin Kim, Companion Diagnostics (CDx) in Precision Medicine, 2019
Roman Groisberg, Vivek Subbiah
A common oncogenic fusion involves the amalgamation of a kinase with another gene resulting in constitutive activation of the kinase. For example, the FGFR3–BAIAP2L1 fusion in bladder cancer causes constitutive Bin–Amphiphysin–Rvs (BAR) domain dimerization and resultant kinase activation independent of a binding ligand.4 Other oncogenic fusions result in over-expression of a kinase such as PDGFR by an overactive regulatory element. Such fusions are common in hematologic malignancies.5 Most of these kinase fusions will lead to downstream activation of cell proliferation and survival pathways such as MAPK and PI3K. These types of oncogenic fusions are typically the most clinically targetable by drugs.
Stiff-person syndrome: an atypical presentation and a review of the literature
Published in Hospital Practice, 2021
Benjamin C. Lin, Jaspreet Johal, Keithan Sivakumar, Alissa E. Romano, Hussam A. Yacoub
Paraneoplastic SPS is characterized by autoantibodies to amphiphysin, a 128 kDa intracellular protein which enables endocytosis in the synaptic cleft by binding to dynamin to support vesicle budding [49]. In vivo studies have shown that anti-amphiphysin antibodies enter into neurons via an epitope-dependent mechanism [50]. The antibodies preferentially target GABAergic over glutamatergic synapses and binding to these synapses decreases the amplitude of inhibitory postsynaptic potentials [50]. These findings support the pathogenic role of anti-amphiphysin antibodies in paraneoplastic SPS. Further support of the causative link is demonstrated by animal studies showing that truncal and limb stiffness and spasms can be induced in rats following intrathecal or intraperitoneal injection of the antibodies purified from SPS patients with breast cancer, whereas amphiphysin knockout mice did not have any of these symptoms [50,51]. However, as previously stated, only a small proportion of anti-amphiphysin positive patients have SPS and not all SPS cases associated with neoplasm are positive for anti-amphiphysin IgG. One review of 13 patients with paraneoplastic SPS reported only 4 cases positive for anti-amphiphysin IgG [8].
Evaluation of antineuronal antibodies and 8-OHdG in mothers of children with autism spectrum disorder: a case-control study
Published in International Journal of Psychiatry in Clinical Practice, 2022
Şermin Bilgen Ulgar, Hamza Ayaydın, Hakim Çelik, İsmail Koyuncu, Adnan Kirmit
In a study investigating the relationship between maternal antineuronal antibodies and ASD, 49 healthy mothers of children with autism and 73 healthy mothers of healthy children were compared to the control group in terms of serum antineuronal antibody levels (Ali et al. 2016). Anti-Yo and anti-amphiphysin antibodies were shown to be more abundant in sera from mothers of children with autism than in mothers of healthy children (Ali et al. 2016). Although anti-Hu and anti-Ri were more common in mothers of children with autism than in the control group, no significant relationship was found (Ali et al. 2016). In line with this study, anti-amphiphysin levels were significantly higher in sera of mothers of children with autism in our study. In a study investigating antineuronal antibodies and oxidative DNA damage in children with autism, 35 children with autism aged 3–12 years were compared with 33 healthy children of similar age (Kilicaslan et al. 2019). Anti-Ri antibody positivity was reported in children with autism and was negative in the control group, and the difference was statistically significant. Additionally, anti-Hu and 8-OHdG levels were significantly higher in the case group compared to the control group. Although anti-amphiphysin antibodies were found to be higher in the case group compared to the control group, no significant differences were found between the two groups. Having no differences between the case and control groups in terms of anti-amphiphysin antibodies and the fact that in our study anti-amphiphysin was significantly higher in mothers of children with autism, suggests that the process begins during pregnancy and maternal anti-amphiphysin antibodies were passed to the foetus through the placenta. As anti-amphiphysin antibodies target neuronal synaptic proteins (Lancaster and Dalmau 2012). This process is known to cause cerebral damage.