Isolated Peripheral Nervous System Presentation in Ma/Ma2-Associated Autoimmunity.

OBJECTIVES

Ma/Ma2-associated neurologic autoimmunity is characterized by CNS involvement. However, isolated peripheral nervous system (PNS) presentations have been rarely reported. We aimed to describe the frequency and syndromes of patients with Ma/Ma2 antibodies and isolated PNS involvement.

METHODS

We performed a nested case series within multicenter cohorts of patients with Ma/Ma2-associated neurologic syndromes, confirmed by tissue-based assay and line-blot. Patients with isolated PNS presentations were included.

RESULTS

Among 212 patients with Ma/Ma2 antibody-associated neurologic syndromes, 7 (3%) presented with isolated PNS involvement (median age, 68 years; 4/7 female). PNS syndromes included sensory neuronopathy (3 patients), myeloradiculopathy (1), radiculoplexopathy (1), motor neuronopathy (1), and multiple mononeuropathy. All patients were anti-Ma2-positive, whereas Ma antibodies (reactive against Ma1 and Ma2 proteins) were detected in 2 (33%)/6 tested patients. An associated cancer was identified in 6 (86%)/7 patients: pleural mesothelioma; oral squamous cell; testicular, lung, and breast cancer; and B-cell lymphoma. Five patients received immunotherapy, cancer treatment, or both. After a median follow-up of 23 months, symptoms improved or stabilized in 3 patients and progressed in 4.

DISCUSSION: Isolated PNS involvement is a rare manifestation of Ma/Ma2 associated autoimmunity. Ma/Ma2 antibody testing should be considered in neuronopathies and unexplained non-length-dependent neuropathies.