Spectrum of Anti-Neurofascin Neuropathies: A Retrospective Indian Cohort

Anti-neurofascin (Nf) -associated neuropathies represent a distinct subset of immune neuropathies. While literature on this entity is evolving, there is currently no published data on these disorders from India. The study aims to characterize Indian patients presenting with anti-Nf-associated neuropathies.

A retrospective chart review (January 2019-April 2024) of patients who had tested positive for one or more anti-Nf antibodies in a tertiary university teaching hospital was carried out. Their clinical, investigative, and therapeutic data were documented and analyzed.

38 patients with varied clinical presentations were studied. Acute and chronic forms were equally common. Sensorimotor weakness, sensory ataxia, tremors, and fluctuating course were common in the chronic group. Acute presentations were typically motor predominant, severe at onset, with rapid progression to nadir. Four patients with recurrent acute presentations were noted. A demyelinating predominant pattern was seen in 19, axonal predominant pattern in 16, and features of chronic immune radiculopathy in 3 patients. Nodal antibodies were more frequent than paranodal antibodies. About two-thirds of patients required more than two immunotherapeutic agents. A favorable response to rituximab was observed in 16/21 patients. Patients with both nodal and paranodal antibodies (Pan Nf neuropathies) were more severe and resistant to therapy.

Anti-Nf-associated neuropathies in this Indian cohort were clinically heterogeneous, spanning acute, chronic, and recurrent phenotypes. Tremors, sensory ataxia, pain, and fulminant onset are valuable diagnostic clues. Pan-Nf-associated neuropathies were consistently severe and treatment-resistant. Rituximab demonstrated significant benefit in most cases, supporting its use in refractory and relapsing disease.