Introduction/aims: Diagnostic evaluation for Lambert-Eaton myasthenic syndrome (LEMS) includes serological testing for voltage-gated calcium channel antibodies (VGCC-P/Q-type [VGCC-PQ] and VGCC-N-type [VGCC-N]). While VGCC-PQ antibodies are well-established biomarkers in LEMS, the clinical utility of VGCC-N antibody testing remains obscure. We aimed to determine the diagnostic value of VGCC-N antibody testing.
View Article and Find Full Text PDFAutoantibodies are important biomarkers for the diagnosis of autoimmune diseases that help to determine treatment strategies and to understand disease pathology. Despite the increasing numbers of neuronal autoantibody discoveries, there are still patients presenting with neurological autoimmune diseases and so far uncharacterized autoantibodies. Between 12/2016 and 06/2024, we collected sera of 314 patients with a distinct uncharacterized IgG pattern in neuronal tissue indirect immunofluorescence assay (IIFA).
View Article and Find Full Text PDFBackground: Post malaria neurologic syndrome (PMNS) is a rare complication of malaria, usually caused by Plasmodium falciparum. The clinical picture is highly variable and ranges from qualitative disturbances of consciousness and psychosis to damage to the peripheral nerves, usually occurring three to eight weeks after treated malaria.
Case Presentation: We report the case of a 54-year-old male who presented with recurrent clinical symptoms three and a half weeks after severe falciparum malaria.
Neurol Neuroimmunol Neuroinflamm
September 2024
Background And Objectives: Autoimmune nodopathies with antibodies against the paranodal proteins show a distinct phenotype of a severe sensorimotor neuropathy. In some patients, complete remission can be achieved after treatment with rituximab whereas others show a chronic course. For optimal planning of treatment, predicting the course of disease and therapeutic response is crucial.
View Article and Find Full Text PDFBackground: Patients suffering from neurological symptoms after COVID-19 vaccination (post-COVID-19 vaccination syndrome (PCVS)) have imposed an increasing challenge on medical practice, as diagnostic precision and therapeutic options are lacking. Underlying autoimmune dysfunctions, including autoantibodies, have been discussed in neurological disorders after SARS-CoV-2 infection and vaccination. Here, we describe the frequency and targets of autoantibodies against peripheral nervous system tissues in PCVS.
View Article and Find Full Text PDFIntroduction: Subgroups of autoantibodies directed against voltage-gated potassium channel (K) complex components have been associated with immunotherapy-responsive clinical syndromes. The high prevalence and the role of autoantibodies directly binding K remain, however, controversial. Our objective was to determine K autoantibody binding requirements and to clarify their contribution to the observed immune response.
View Article and Find Full Text PDFBrain Behav Immun
March 2024
Background: Autoantibodies against the potassium voltage-gated channel subfamily A member 2 (KCNA2) have been described in a few cases of neuropsychiatric disorders, but their diagnostic and pathophysiological role is currently unknown, imposing challenges to medical practice.
Design / Methods: We retrospectively collected comprehensive clinical and paraclinical data of 35 patients with KCNA2 IgG autoantibodies detected in cell-based and tissue-based assays. Patients' sera and cerebrospinal fluid (CSF) were used for characterization of the antigen, clinical-serological correlations, and determination of IgG subclasses.
Anti-NMDA receptor (NMDAR) encephalitis (NMDARE) is an important treatable cause of autoimmune psychosis in all age-groups, which is sometimes associated with tumors, especially ovarian teratomas. Tuberous sclerosis complex (TSC) is an autosomal dominant inherited neurocutaneous disease predisposing for development of benign tumors. We present a case of a 35-year-old woman with recurrent episodes of schizophrenia-like symptoms.
View Article and Find Full Text PDFSchwann cell development and peripheral nerve myelination require the serial expression of transcriptional activators, such as Sox10, Oct6 (also called Scip or Pou3f1) and Krox20 (also called Egr2). Here we show that transcriptional repression, mediated by the zinc-finger protein Zeb2 (also known as Sip1), is essential for differentiation and myelination. Mice lacking Zeb2 in Schwann cells develop a severe peripheral neuropathy, caused by failure of axonal sorting and virtual absence of myelin membranes.
View Article and Find Full Text PDFAnn Clin Transl Neurol
August 2015
Objective: Pelizaeus-Merzbacher disease (PMD) is a progressive and lethal leukodystrophy caused by mutations affecting the proteolipid protein (PLP1) gene. The most common cause of PMD is a duplication of PLP1 and at present there is no curative therapy available.
Methods: By using transgenic mice carrying additional copies of Plp1, we investigated whether curcumin diet ameliorates PMD symptoms.