Jones, LA;
Baber, W;
Wardle, M;
Robertson, NP;
Morris, HR;
Church, A;
Llewelyn, JG;
(2019)
A Case of Treatment Resistance and Complications in a Patient with Stiff Person Syndrome and Cerebellar Ataxia.
Tremor and Pther Hyperkinetic Movements
, 9
, Article v0.677. 10.7916/tohm.v0.677.
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Abstract
BACKGROUND: Antibodies against glutamic acid decarboxylase (GAD) are associated with Stiff Person Syndrome (SPS). CASE REPORT: A 50-year-old woman presented with symptoms progressed over 9 years, resulting in a cerebellar ataxia and right upper limb tremor. Investigations revealed elevated serum and CSF anti-GAD antibody titres (98.6 and 53.4 μ/ml, respectively). Treatment included intravenous immunoglobulin and immunomodulation (infliximab and rituximab), improving her stiffness, but with no impact on the ataxia-related symptoms. Subsequent high-dose steroids led to diabetic ketoacidosis and unmasking of an insulin-dependent diabetes mellitus. DISCUSSION: This case illustrates several key features: (1) the combined clinical picture of SPS and cerebellar ataxia is a rare phenotype associated with anti-GAD antibodies; (2) the cerebellar ataxia described was progressive and poorly responsive to immunomodulatory therapy; and (3) the potential for development of further autoimmune sequelae in response to immunosuppression, namely, the development of insulin-dependent diabetes in response to treatment with high-dose oral steroids.
| Type: | Article |
|---|---|
| Title: | A Case of Treatment Resistance and Complications in a Patient with Stiff Person Syndrome and Cerebellar Ataxia |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.7916/tohm.v0.677 |
| Publisher version: | https://doi.org/10.7916/tohm.v0.677 |
| Language: | English |
| Additional information: | © 2019 Jones et al. This is an open-access article distributed under the terms of the Creative Commons Attribution–Noncommercial–No Derivatives License (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
| Keywords: | Stiff Person Syndrome, GAD autoantibodies, cerebellar ataxia, movement disorder, cerebellum, autoimmune, anti-GAD, treatment |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10084588 |
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