Anti‐neurochondrin antibody as a biomarker in primary autoimmune cerebellar ataxia—a case report and review of the literature

Abstract

Background and purpose: Neuronal autoantibodies can support the diagnosis of primary autoimmune cerebellar ataxia (PACA). Knowledge of PACA is still sparce. This article aims to highlight the relevance of anti-neurochondrin antibodies and possible therapeutical consequences in people with PACA.Methods: This is a case presentation and literature review of PACA associated with antineurochondrin antibodies. Results: A 33-year-old man noticed reduced control of the right leg in May 2020. During his first clinic appointment at our institution in September 2021, he complained about gait imbalance, fine motor disorders, tremor, intermittent diplopia and slurred speech. He presented a pancerebellar syndrome with stance, gait and limb ataxia, scanning speech and oculomotor dysfunction. Within 3 months the symptoms progressed. An initial cerebral magnetic resonance imaging, June 2020, was normal, but follow-up imaging in October 2021 and July 2022 revealed marked cerebellar atrophy (29% volume loss). Cerebrospinal How to cite this article: Schwarzwald A, Salmen A, León Betancourt AX, et al. Anti-neurochondrin antibody as a biomarker in primary autoimmune cerebellar ataxia-a case report and review of the literature.

Neuronal antibodies in nonparaneoplastic autoimmune cerebellar ataxias

“…Rho GTPase activating protein 26 (ARHGAP26) antibodies, like ITPR1 antibodies, have been identified in patients with several neurological syndromes apart from cerebellar ataxia and associate with cancer in 37% of patients (Table 2) [46]. Neurochondrin antibodies are usually detected in patients younger than those with the other intracellular antibodies and 30% are children less than 14 years of age [47,48]. Patients with adaptor protein 3 subunit B2 (AP3B2) antibodies present, apart from cerebellar ataxia, sensory ataxia probably reflecting the involvement of the dorsal root ganglia.…”

Recent Advances in Immune-Mediated Cerebellar Ataxias: Pathogenesis, Diagnostic Approaches, Therapies, and Future Challenges—Editorial

“…This is also applicable to latent autoimmune cerebellar ataxia (LACA), which is characterized by a slowly progressive course, the lack of an obvious autoimmune background, and difficulties in reaching a diagnosis in the absence of biomarkers for IMCAs [57,58]. IMCAs have now entered into daily neurological practice [59,60]. IM-CAs represent a window to elucidate both fundamental and clinical aspects of cerebellar disorders encountered in daily practice.…”