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Two new cases of anti-Ca (anti-ARHGAP26/GRAF) autoantibody-associated cerebellar ataxia

Jarius, Sven ; Martínez-García, Pedro ; Hernandez, Adelaida León ; Brase, Jan Christoph ; Borowski, Kathrin ; Regula, Jens Ulrich ; Meinck, Hans Michael ; Stöcker, Winfried ; Wildemann, Brigitte ; Wandinger, Klaus-Peter

In: Journal of Neuroinflammation, 10 (2013), Nr. 7. pp. 1-6. ISSN 1742-2094

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Download (562kB) | Lizenz: Creative Commons LizenzvertragTwo new cases of anti-Ca (anti-ARHGAP26/GRAF) autoantibody-associated cerebellar ataxia by Jarius, Sven ; Martínez-García, Pedro ; Hernandez, Adelaida León ; Brase, Jan Christoph ; Borowski, Kathrin ; Regula, Jens Ulrich ; Meinck, Hans Michael ; Stöcker, Winfried ; Wildemann, Brigitte ; Wandinger, Klaus-Peter underlies the terms of Creative Commons Attribution 3.0 Germany

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Abstract

Recently, we discovered a novel serum and cerebrospinal fluid (CSF) autoantibody (anti-Ca) to Purkinje cells in a patient with autoimmune cerebellar ataxia (ACA) and identified the RhoGTPase-activating protein 26 (ARHGAP26; alternative designations include GTPase regulator associated with focal adhesion kinase pp125, GRAF, and oligophrenin-1-like protein, OPHN1L) as the target antigen. Here, we report on two new cases of ARHGAP26 autoantibody-positive ACA that were first diagnosed after publication of the index case study. While the index patient developed ACA following an episode of respiratory infection with still no evidence for malignancy 52 months after onset, neurological symptoms heralded ovarian cancer in one of the patients described here. Our finding of anti-Ca/anti-ARHGAP26 antibodies in two additional patients supports a role of autoimmunity against ARHGAP26 in the pathogenesis of ACA. Moreover, the finding of ovarian cancer in one of our patients suggests that anti-Ca/anti-ARHGAP26-positive ACA might be of paraneoplastic aetiology in some cases. In conclusion, testing for anti-Ca/anti-ARHGAP26 should be included in the diagnostic work-up of patients with ACA, and an underlying tumour should be considered in patients presenting with anti-Ca/ARHGAP26 antibody-positive ACA.

Item Type: Article
Journal or Publication Title: Journal of Neuroinflammation
Volume: 10
Number: 7
Publisher: BioMed Central
Place of Publication: London
Date Deposited: 27 Jan 2017 13:30
Date: 2013
ISSN: 1742-2094
Page Range: pp. 1-6
Faculties / Institutes: Service facilities > Interdisziplinäres Zentrum für Neurowissenschaften
Medizinische Fakultät Heidelberg > Neurologische Universitätsklinik
Subjects: 610 Medical sciences Medicine
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