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EAN 2021 | Alpha-synuclein aggregation in the olfactory mucosa of patients with isolated RBD vs. PD

Ambra Stefani, MD, Medical University of Innsbruck, Austria, shares the findings of a study aiming to explore real-time quaking-induced conversion (RT-QuIC) detection of α-synuclein aggregates in the olfactory mucosa of a large cohort of subjects with isolated REM sleep behaviour disorder (RBD), compared to patients with Parkinson’s disease and healthy controls. Isolated RBD is regarded as an early stage α-synucleinopathy and detection of pathological α-synuclein in peripheral tissues may identify patients progressing to neurodegenerative disease. Nasal swabs were used to obtain a sample of the olfactory mucosa, which is a minimally invasive process and can be used to detect for pathological alpha-synuclein. The olfactory mucosa was α-synuclein RT-QuIC positive in 44.4% of isolated RBD patients compared to 46.3% in the Parkinson’s disease arm and 10.2% of matched controls. While overall study sensitivity was moderate, the results obtained from this study suggest nasal swabbing may be a useful tool to recognize patients in an early-stage of α-synuclein related neurodegeneration, and may help to select subjects for clinical trials of interventions targeting α-synuclein pathologic conversion and spread. This interview took place during the European Academy of Neurology 2021 congress.