Cutaneous phosphorylated-synuclein 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 cutaneous phosphorylated-synuclein as a biomarker for the differential diagnosis of pure autonomic failure (PAF). PAF is a primarily peripheral α-synucleinopathy, but around a third of patients phenoconvert to more central, widespread α-synucleinopathy like multiple system atrophy (MSA). Early in the disease, PAF can be difficult to differentially diagnose, especially if presentation is abnormal. This study looked at whether deposition of phosphorylated-synuclein in the skin could differentiate PAF from MSA and from non-synucleinopathy related autonomic failure. In the non-synucleinopathy cohort, no patients had any visible p-syn, compared to 100% of patients with PAF. In the MSA group, 73% of patients had biopsies with p-syn present but it was generally less visible and abundant. Total p-syn score was able to separate PAF from MSA, suggesting its potential as an early diagnostic biomarker. This interview took place at the European Academy of Neurology (EAN) Annual Meeting 2024 in Helsinki, Finland.

These works are owned by Magdalen Medical Publishing (MMP) and are protected by copyright laws and treaties around the world. All rights are reserved.