Successful treatment of anti‐GAD antibody‐associated autoimmune cerebellar ataxia with combined immunotherapies

2021 ◽  
Author(s):  
Yoshio Omote ◽  
Chika Matsuoka ◽  
Ryo Sasaki ◽  
Nozomi Hishikawa ◽  
Yuko Kawahara ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Successful Treatment ◽  
Autoimmune Cerebellar Ataxia

Autoimmune Cerebellar Ataxia due to Inflammation of the Inferior Olivary Nuclei

2021 ◽  
Author(s):  
Jae-Gyum Kim ◽  
Young-Bin Park ◽  
Sun-Uk Lee ◽  
Sung-Wook Yu ◽  
Kun-Woo Park ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Autoimmune Cerebellar Ataxia ◽  
Inferior Olivary

scholarly journals Autoantibody to the Rab6A/Rab6B in Autoimmune Cerebellar Ataxia Associated with Sjogren’s Syndrome

2020 ◽  
Author(s):  
Liyuan Guo ◽  
Haitao Ren ◽  
Siyuan Fan ◽  
Hongzhi Guan ◽  
Jing Wang
Keyword(s):  
Purkinje Cell ◽  
Cerebellar Ataxia ◽  
Sjögren’S Syndrome ◽  
Sjögren's Syndrome ◽  
Sjogren’S Syndrome ◽  
Sjogren's Syndrome ◽  
Hek293 Cells ◽  
Rat Cerebellum ◽  
Autoimmune Cerebellar Ataxia ◽  
Sjögren‘S Syndrome

Abstract Background To report a novel autoantibody against Purkinje cell in a patient with autoimmune cerebellar ataxia (ACA) associated to Sjogren’s syndrome (SS).Methods The Patients on one centre with cerebellar ataxia of unknown cause, who were tested positive with tissue-based indirect immunofluorescence assay (TBA) on rat cerebellum sections and negative for comprehensive anti-neural autoantibodies panel, were investigated for novel autoantibody identification. Among them, one patient with comorbid ACA and SS was qualified for further exploration. His-immunoprecipitation (HIP) combined with mass spectrometric (MS) analysis was used to identify the target antigen, which was confirmed by recombinant cell based assay (CBA) and antibody neutralization experiments. Results TBA of the patient’s serum and cerebrospinal fluid (CSF) for autoantibody testing revealed binding of IgG antibody, mainly IgG1, to Purkinje cell and granular layer of rat cerebellum. Rab6A was identified as the autoantigen by MS and Western blot, subsequently verified by CBA with HEK293 cells expressing human Rab6A/Rab6B. Furthermore, recombinant human Rab6A/Rab6B protein to neutralize the autoantibodies’ tissue reaction was performed by a parallel confirmed approach.Conclusion Autoantibody against Rab6A/Rab6B may be a novel biomarker in diagnosis of ACA, especially in patients with comorbid ACA and SS. The role of the antibody in mechanism of ACA warrants further study.

scholarly journals Diagnostic Criteria for Primary Autoimmune Cerebellar Ataxia—Guidelines from an International Task Force on Immune-Mediated Cerebellar Ataxias

2020 ◽  
Vol 19 (4) ◽  
pp. 605-610 ◽  
Author(s):  
Marios Hadjivassiliou ◽  
Francesc Graus ◽  
Jerome Honnorat ◽  
Sven Jarius ◽  
Maarten Titulaer ◽  
...  
Keyword(s):  
Diagnostic Criteria ◽  
Cerebellar Ataxia ◽  
Task Force ◽  
Immune Mediated ◽  
Autoimmune Cerebellar Ataxia ◽  
Cerebellar Ataxias

scholarly journals Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies

2017 ◽  
Vol 75 (3) ◽  
pp. 142-146 ◽  
Author(s):  
Tiago Silva Aguiar ◽  
Andrea Fragoso ◽  
Carolina Rouanet de Albuquerque ◽  
Patrícia de Fátima Teixeira ◽  
Marcus Vinícius Leitão de Souza ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Pancreatic Beta Cells ◽  
Clinical Characteristics ◽  
Immunoglobulin Therapy ◽  
Acid Decarboxylase ◽  
Partial Recovery ◽  
Gamma Aminobutyric Acid ◽  
Intravenous Immunoglobulin Therapy ◽  
Autoimmune Cerebellar Ataxia ◽  
Insidious Onset

ABSTRACT The enzyme glutamic acid decarboxylase (GAD), present in GABAergic neurons and in pancreatic beta cells, catalyzes the conversion of gamma-aminobutyric acid (GABA). The cerebellum is highly susceptible to immune-mediated mechanisms, with the potentially treatable autoimmune cerebellar ataxia associated with the GAD antibody (CA-GAD-ab) being a rare, albeit increasingly detected condition. Few cases of CA-GAD-ab have been described. Methods This retrospective and descriptive study evaluated the clinical characteristics and outcomes of patients with CA-GAD-ab. Result Three patients with cerebellar ataxia, high GAD-ab titers and autoimmune endocrine disease were identified. Patients 1 and 2 had classic stiff person syndrome and insidious-onset cerebellar ataxia, while Patient 3 had pure cerebellar ataxia with subacute onset. Patients received intravenous immunoglobulin therapy with no response in Patients 1 and 3 and partial recovery in Patient 2. Conclusion CA-GAD-ab is rare and its clinical presentation may hamper diagnosis. Clinicians should be able to recognize this potentially treatable autoimmune cerebellar ataxia.

Neurochondrin Antibody Serum Positivity in Three Cases of Autoimmune Cerebellar Ataxia

2019 ◽  
Vol 18 (6) ◽  
pp. 1137-1142 ◽  
Author(s):  
Zhang Weihua ◽  
Ren Haitao ◽  
Fang Fang ◽  
Yang Xunzhe ◽  
Wang Jing ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Autoimmune Cerebellar Ataxia

scholarly journals Prevalence of Autoantibodies and the Efficacy of Immunotherapy for Autoimmune Cerebellar Ataxia

2016 ◽  
Vol 55 (5) ◽  
pp. 449-454 ◽  
Author(s):  
Kazunori Nanri ◽  
Misaki Okuma ◽  
Saki Sato ◽  
Makoto Yoneda ◽  
Takeshi Taguchi ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Autoimmune Cerebellar Ataxia

scholarly journals Update in Autoimmune Movement Disorders: Newly Described Antigen Targets in Autoimmune and Paraneoplastic Cerebellar Ataxia

2021 ◽  
Vol 12 ◽  
Author(s):  
Madeline Garza ◽  
Amanda L. Piquet
Keyword(s):  
Cerebellar Ataxia ◽  
Movement Disorders ◽  
Metabotropic Glutamate Receptor ◽  
Neurological Diseases ◽  
Treatment Options ◽  
Adaptor Protein ◽  
Clinical Syndrome ◽  
Case Examples ◽  
Autoimmune Cerebellar Ataxia

Movement disorders are a common feature of many antibody-associated neurological disorders. In fact, cerebellar ataxia is one of the most common manifestations of autoimmune neurological diseases. Some of the first autoantibodies identified against antigen targets include anti-neuronal nuclear antibody type 1 (ANNA-1 or anti-Hu) and Purkinje cell cytoplasmic antibody (PCA-1) also known as anti-Yo have been identified in paraneoplastic cerebellar degeneration. Historically these antibodies have been associated with an underlying malignancy; however, recently discovered antibodies can occur in the absence of cancer as well, resulting in the clinical syndrome of autoimmune cerebellar ataxia. The pace of discovery of new antibodies associated with autoimmune or paraneoplastic cerebellar ataxia has increased rapidly over the last few years, and pathogenesis and potential treatment options remains to be explored. Here we will review the literature on recently discovered antibodies associated with autoimmune and paraneoplastic cerebellar ataxia including adaptor protein-3B2 (AP3B2); inositol 1,4,5-trisphophate receptor type 1 (ITPR1); tripartite motif-containing (TRIM) proteins 9, 67, and 46; neurochondrin; neuronal intermediate filament light chain (NIF); septin 5; metabotropic glutamate receptor 2 (mGluR2); seizure-related 6 homolog like 2 (SEZ6L2) and homer-3 antibodies. We will review their clinical characteristics, imaging and CSF findings and treatment response. In addition, we will discuss two clinical case examples of autoimmune cerebellar ataxia.

scholarly journals Selective loss of Purkinje cells in a patient with anti-gliadin-antibody-positive autoimmune cerebellar ataxia

2011 ◽  
Vol 6 (1) ◽  
Author(s):  
Kazunori Nanri ◽  
Makoto Shibuya ◽  
Takeshi Taguchi ◽  
Akira Hasegawa ◽  
Nobuyuki Tanaka
Keyword(s):  
Cerebellar Ataxia ◽  
Purkinje Cells ◽  
Selective Loss ◽  
Autoimmune Cerebellar Ataxia ◽  
Gliadin Antibody
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