Autonomic markers for the differential diagnosis of pure autonomic failure

Junie Shiwen Koay, MBBS, University College London Queen Square Institute of Neurology, London, UK, discusses her research into the use of multimodal autonomic biomarkers for the differential diagnosis of pure autonomic failure. In the early stages, α-synucleinopathies can be difficult to differentiate, especially in patients with abnormal presentations. Pure autonomic failure is characterized by predominantly peripheral deposition of α-synuclein, with isolated autonomic failures and the absence of more central features as seen in conditions like multiple system atrophy or Parkinson’s disease. With a variety of tests conducted, it was found that patients with pure autonomic failure had much greater orthostatic hypotension in head-up tilt test, lower supine noradrenalin levels, and more sympathetic pupillary deficits. Having normal supine noradrenalin levels and normal pupils increased the odds of a patient having multiple system atrophy greatly compared to pure autonomic failure. These biomarkers were also able to help predict phenoconversion from pure autonomic failure to more central α-synucleinopathies. This interview took place at the European Academy of Neurology (EAN) Annual Meeting 2024 in Helsinki, Finland.
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