Improvement with corticosteroids and azathioprine in GAD65-associated cerebellar ataxia.

摘要

High levels of antibodies to the 65-kd isoform of glutamic acid decarboxylase (GAD65) are observed in some cases of sporadic, progressive cerebellar ataxia and suggest a potential autoimmune etiology. Few studies have examined immunotherapy in GAD65-associated ataxia. We describe a patient with GAD65 ataxia who responded to IV methylprednisolone (IVMP) but not to plasma exchange. Oral azathioprine has provided a sustained clinical remission.Case report. A 70-year-old man with type 2 diabetes mellitus and unremarkable family history presented with 9 months of progressive ataxia, beginning with left hemiataxia and dysarthria. He later developed right hemiataxia, progressive gait instability, dysmetria, spasticity, worsening dysarthria, and dysphagia with 5-to 10-kg weight loss.On exam he had loud, scanning, dysarthric speech, gaze-evoked nystagmus, saccadic intrusions, dysmetric saccades, spastic tone and bilateral Babinski signs, marked left greater than right limb ataxia with gross action tremor, dysmetria, and dysdi-adokinesia (video). He was unable to stand or walk because of ataxia and received a gastrostomy tube for dysphagia and aspiration. His score on the International Cooperative Ataxia Rating Scale (ICARS) was 78 of 100.5