Published Date: October 17, 2023

Full Text Article

A Case of Anti-Ma2 Encephalitis Presenting with Pendular Torsional Nystagmus

Authors: Gloria Vaghi, Elisa Vegezzi, Paola Bini, Matteo Gastaldi, Luca Diamanti, Enrico Marchioni, Silvia Colnaghi

Cerebellum. 2023 Oct 18. doi: 10.1007/s12311-023-01601-w. Online ahead of print.


Antibodies against the neuronal protein Ma2 have been reported in a peculiar form of paraneoplastic encephalitis with prominent involvement of the limbic, brainstem, and diencephalic structures and usually associated with germ cell testicular, lung, or breast cancer. The diagnosis is frequently challenged by atypical clinical manifestations including parkinsonism, sleep disturbances, hypothalamic-pituitary dysfunctions, and motor neuron-like syndrome. In recent years, the advent of monoclonal antibodies targeting immune checkpoints has deeply changed the treatment of different tumors, especially melanoma and lung cancer. However, given their nature, an increasing number of neurological immune-related adverse events, including ocular motor abnormalities, have been described. Here, we report a woman with advanced non-small cell lung cancer treated with anti-PD-L1 durvalumab, presenting with an isolated pendular torsional nystagmus, in association with anti-Ma2 antibodies. This peculiar case widens our knowledge on the clinical presentation of anti-Ma2 encephalitis associated with checkpoint inhibitors.

PMID: 37848701DOI: 10.1007/s12311-023-01601-w