Chapter 21 - Immune-mediated ataxias

Abstract

Immune-mediated cerebellar ataxia (CA) comprises a group of rare diseases that are still incompletely described, and are probably underdiagnosed. Both acute and progressive progressions are possible. Different syndromes have been identified, including CA associated with anti-GAD antibodies, the cerebellar type of Hashimoto encephalopathy, primary autoimmune CA, gluten ataxia, opsoclonus-myoclonus syndrome, and paraneoplastic cerebellar degenerations. Most of these syndromes are associated with autoantibodies targeting neuronal antigens. Additionally, autoimmune CA can be triggered by infections, especially in children, and in rare cases occur in the context of an autoimmune multisystem disease, such as systemic lupus erythematosus, sarcoidosis, or Behçet disease. A careful workup is needed to distinguish autoimmune CA from other causes. In adults, a paraneoplastic origin must be ruled out, especially in cases with subacute onset. Neurologic outcome in adults is frequently poor, and optimal therapeutic strategies remain ill defined. The outcome in children is in general good, but children with a poor recovery are on record. The precise pathophysiologic mechanisms even in the presence of detectable autoantibodies are still largely unknown. Further research is needed on both the clinical and mechanistic aspects of immune-mediated CA, and to determine optimal therapeutic strategies.