Abstract
Background: To date, 10 patients with GTPase Regulator Associated with Focal Adhesion Kinase 1/Rho GTPase Activating Protein 26-Immunoglobulin (GRAF1/ARHGAP26-IgG) associated neurological disorders have been described, most with ataxia. Objective: To report the clinical, oncological, and radiological associations of GRAF1 autoantibodies. Methods: We identified 17 patients whose serum and/or cerebrospinal fluid IgG was confirmed to target GRAF1/ARHGAP26-IgG by both tissue-based immunofluorescence and transfected cell-based assay. Clinical information was available on 14 patients. Results: The median age at neurological symptom onset was 51 years, and 8 (47%) were men. The predominant clinical features were subacute progressive cerebellar ataxia (13) or peripheral neuropathy (2). Magnetic resonance imaging brain (7 available) showed cerebellar atrophy (4, 1 also cerebrum and brainstem atrophy). Of 7 cerebrospinal fluids available for testing, 5 showed pleocytosis with oligoclonal bands in 3. Squamous cell carcinoma was observed in 3 patients (head and neck [2], lung [1]). Conclusion: GTPase Regulator Associated with Focal Adhesion Kinase 1 autoimmunity manifests commonly with subacute ataxia and cerebellar degeneration with a potential association with squamous cell carcinoma. Peripheral neuropathy may also be encountered. Cases in this series responded poorly to immunotherapy.
Original language | English (US) |
---|---|
Pages (from-to) | 904-909 |
Number of pages | 6 |
Journal | Movement Disorders Clinical Practice |
Volume | 7 |
Issue number | 8 |
DOIs | |
State | Published - Nov 1 2020 |
Keywords
- GTPase regulator, ataxia, neuropathy, tissue-based immunofluorescence, paraneoplastic, GRAF1
ASJC Scopus subject areas
- Neurology
- Clinical Neurology