Cerebellar ataxia with GAD 65 antibodies – a clinical case report
Bulgarian Medical Journal, 2024, 18(1), 51-56.
S. Zhelyazkova1,2, I. Tournev1,2,3
1 Clinic of Nervous System Diseases, University Hospital “Alexandrovska” – Sofia
2 Department of Neurology, Medical University – Sofia
3 Department of Cognitive Science and Psychology, New Bulgarian University – Sofia
Abstract. Cerebellar ataxia associated with glutamic acid decarboxylase autoantibodies (GAD 65-ab) is a rare and progressive immune-mediated disease. The most common symptoms include moderate to severe gait and limb ataxia, dysarthria, and nystagmus. The onset is usually subacute or chronic with an insidious progression over months or years. GAD 65-ab cerebellar ataxia is often included in a complex dysimmune syndrome with type 1 diabetes, Grave‘s disease, pernicious anemia, vitiligo, coeliac disease. We present a 37-year-old man with history of rapidly progressing gait instability, difficulty walking, dysarthria and insulin dependent diabetes. The family history is unremarkable. Brain magnetic resonance imaging (MRI) showed mild cerebellar atrophy. The patient had markedly elevated anti-GAD 65 antibody titers in serum and the cerebrospinal fluid. The clinical symptoms and the laboratory and neuroimaging results were compatible with ataxia associated with anti-GAD 65 antibodies. The patient was treated with corticosteroids and immunoglobulins with no response. Although cerebellar ataxia associated with anti-GAD 65 antibodies can be characterized as treatable ataxia, immunotherapy seems to be effective only at the early stages of the disease. This case report and analyses of previous data suggest that testing for GAD antibodies may be indicated in patients with sporadic cerebellar ataxia, particularly when type 1 diabetes is present.
Key words: cerebellar ataxia, GAD 65 antibodies, a case report
Address for correspondence: Sashka Georgieva Zhelyazkova, Clinic of Nervous Diseases, University Hospital “Alexandrovska”, 1 “Georgi Sofiyski” St., Bg – 1431 Sofia, e-mail: doc_sashka@abv.bg