‘Medusa head ataxia’: the expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia. Part 1: Anti-mGluR1, anti-Homer-3, anti-Sj/ITPR1 and anti-CARP VIII

摘要: Serological testing for anti-neural autoantibodies is important in patients presenting with idiopathic cerebellar ataxia, since these may indicate cancer, determine treatment and predict prognosis. While some of them target nuclear antigens present all or most CNS neurons (e.g. anti-Hu, anti-Ri), others more specifically the cytoplasm plasma membrane Purkinje cells (PC). In this series articles, we provide a detailed review clinical paraclinical features, oncological, therapeutic prognostic implications, pathogenetic relevance, differential laboratory diagnosis 12 common PC (often referred to as ‘Medusa-head antibodies’ due their characteristic somatodendritic binding pattern when tested by immunohistochemistry). To assist immunologists neurologists diagnosing disorders, typical high-resolution immunohistochemical images reactivities are presented, diagnostic pitfalls discussed currently available assays reviewed. Of note, antibodies involved mGluR1/calcium pathway essential function survival. Many also play role spinocerebellar ataxia. Part 1 focuses on anti-metabotropic glutamate receptor 1-, anti-Homer protein homolog 3-, anti-Sj/inositol 1,4,5-trisphosphate receptor- anti-carbonic anhydrase-related VIII-associated autoimmune ataxia (ACA); part 2 covers anti-protein kinase C gamma-, anti-glutamate delta-2-, anti-Ca/RhoGTPase-activating 26- anti-voltage-gated calcium channel-associated ACA; 3 reviews current knowledge anti-Tr/delta notch-like epidermal growth factor-related receptor-, anti-Nb/AP3B2-, anti-Yo/cerebellar degeneration-related 2- cell antibody 2-associated ACA, discusses aspects provides summary outlook.