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SCIENTIFIC LITERATURE · PPR

Olfactory swab sampling optimization for α-synuclein aggregates detection in patients with Parkinson’s disease

Bongianni M, Catalan M, Perra D, Fontana E, Janes F, Bertolotti C, Sacchetto L, Capaldi S, Tagliapietra M, Polverino P, Tommasini V, Bellavita G, Kachoie EA, Baruca R, Bernardini A, Valente M, Fiorini M, Bronzato E, Tamburin S, Bertolasi L, Brozzetti L, Cecchini MP, Gigli G, Monaco S, Manganotti P, Zanusso G.

· 2022-05-27

DOI: 10.21203/rs.3.rs-1677587/v1

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Research overview

The text below is the source article’s original abstract under a verified reuse license. cc by

Abstract Background In patients with Parkinson’s disease (PD), Real-Time Quaking-Induced Conversion (RT-QuIC) detection of pathological α–synuclein (α-syn) in olfactory mucosa (OM) was not as accurate as in other α-synucleinopathies. It is unknown whether these variable results might be related to a different distribution of pathological α-syn in olfactory mucosa (OM). Thus, we investigated whether nasal swab (NS) performed in areas with a different coverage by olfactory neuroepithelium, such as agger nasi (AN) and middle turbinate (MT), might affect pathological α-syn detection. Methods NS was performed in 66 patients with PD and 29 non-PD between September 2018 and April 2021. In 43 patients CSF was also obtained and all samples were analyzed by RT-QuIC for α-syn. Results In a first round, 72 OM samples were collected by NS, from AN (NSAN) or from MT (NSMT), and 35 resulted RT-QuIC positive. Of these, 27/32 (84%) resulted from AN, 5/11 (45%) from MT and 3/29 (10%) belonged to non-PD patients. Furthermore, 23 additional PD patients underwent NS at both AN and MT. NSAN were positive in 18/23 (78%) while NSMTin 10/23 (44%). Immunocytochemistry on NS preparations showed a higher representation of olfactory neural cells in NSAN compared to NSMT. We also observed α-syn and phospho-α-syn deposits in NS from PD patients but not in controls. Finally, RT-QuIC was positive in 22/24 CSF samples from PD patients (92%) and in 1/19 non-PD. Conclusion In PD patients, RT-QuIC sensitivity is significantly increased (from 45–84%) when NS is performed at AN indicating that α-syn aggregates are preferentially detected in olfactory areas with higher concentration of olfactory neurons. Although RT-QuIC analysis of CSF showed a higher diagnostic accuracy compared to NS, due to the non-invasiveness NS might be considered an ancillary procedure for PD diagnosis.

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