Abstract
ObjectiveAnti-IgLON5 disease forms an interface between neuroinflammation and neurodegeneration and includes clinical phenotypes that are often similar to those of neurodegenerative diseases. An early diagnosis of patients with anti-IgLON5 disease and differentiation from neurodegenerative diseases is necessary and may have therapeutic implications.MethodsIn our small sample size study we investigated oculomotor function as a differentiating factor between anti-IgLON5 disease and neurodegenerative disorders. We examined ocular motor and vestibular function in four patients suffering from anti-IgLON5 disease using video-oculography (VOG) and a computer-controlled rotational chair system (sampling rate 60 Hz) and compared the data with those from ten age-matched patients suffering from progressive supranuclear palsy (PSP) and healthy controls (CON).ResultsPatients suffering from anti-IgLON5 disease differed from PSP most strikingly in terms of saccade velocity and accuracy, the presence of square wave jerks (SWJ) (anti-IgLON5 0/4 vs. PSP 9/10) and the clinical finding of supranuclear gaze palsy (anti-IgLON5 1/4). The presence of nystagmus, analysis of smooth pursuit eye movements, VOR and VOR suppression was reliable to differentiate between the two disease entities. Clear differences in all parameters, although not always significant, were found between all patients and CON.DiscussionWe conclude that the use of VOG as a tool for clinical neurophysiological assessment can be helpful in differentiating between patients with PSP and patients with anti-IgLON5 disease. VOG could have particular value in patients with suspected PSP and lack of typical Parkinson’s characteristics. future trials are indispensable to assess the potential of oculomotor function as a biomarker in anti-IgLON5 disease.
Highlights
The clinical phenotype of anti-IgLON5 disease mainly comprises features of a neurodegenerative disease
The most important results of our study are: I) Determination of saccade accuracy, velocity and latency yielded the most distinct results between patients with anti IgLON5 disease and Progressive supranuclear palsy (PSP) and in order to distinguish both entities from healthy controls
II) Square wave jerks are saccadic intrusions which were more likely to occur in patients suffering from PSP but not anti-IgLON5 disease in our cohort
Summary
The clinical phenotype of anti-IgLON5 disease mainly comprises features of a neurodegenerative disease. Patients diagnosed with anti-IgLON5 disease appear to have four core syndromes: 1) sleep disorder 2) bulbar dysfunction 3) progressive supranuclear palsy (PSP) - like syndrome 4) cognitive impairment [1]. Neuronal dysfunction and neurodegeneration is assumably triggered by the binding of anti-IgLON5 antibodies to its epitope, leading to hyperphosphorylation and accumulation of tau protein. No phosphor-tau (pTau) deposits were found in a patient with relatively rapid disease progression, but CD8+ T cell infiltrates were seen [5]. The neuroinflammatory hypothesis of PSP suggests microglia activation even in early stages of the disease and expression of proinflammatory cytokines, linking neuroinflammation with neurodegeneration, contributing to the pathogenesis of PSP [6]
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