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Open Access 01-12-2022 | Parkinson's Disease | Research

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

Authors: Matilde Bongianni, Mauro Catalan, Daniela Perra, Elena Fontana, Francesco Janes, Claudio Bertolotti, Luca Sacchetto, Stefano Capaldi, Matteo Tagliapietra, Paola Polverino, Valentina Tommasini, Giulia Bellavita, Elham Ataie Kachoie, Roberto Baruca, Andrea Bernardini, Mariarosaria Valente, Michele Fiorini, Erika Bronzato, Stefano Tamburin, Laura Bertolasi, Lorenzo Brozzetti, Maria Paola Cecchini, Gianluigi Gigli, Salvatore Monaco, Paolo Manganotti, Gianluigi Zanusso

Published in: Translational Neurodegeneration | Issue 1/2022

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) is 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 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 the detection of pathological α-syn.

Methods

NS was performed in 66 patients with PD and 29 non-PD between September 2018 and April 2021. In 43 patients, cerebrospinal fluid (CSF) was also obtained and all samples were analyzed by RT-QuIC for α-syn.

Results

In the first round, 72 OM samples were collected by NS, from AN (NS^AN) or from MT (NS^MT), and 35 resulted positive for α-syn RT-QuIC, including 27/32 (84%) from AN, 5/11 (45%) from MT, and 3/29 (10%) belonging to the non-PD patients. Furthermore, 23 additional PD patients underwent NS at both AN and MT, and RT-QuIC revealed α-syn positive in 18/23 (78%) NS^AN samples and in 10/23 (44%) NS^MT samples. Immunocytochemistry of NS preparations showed a higher representation of olfactory neural cells in NS^AN compared to NS^MT. 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% to 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 as an ancillary procedure for PD diagnosis.

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Title: Olfactory swab sampling optimization for α-synuclein aggregate detection in patients with Parkinson’s disease
Authors: Matilde Bongianni
Mauro Catalan
Daniela Perra
Elena Fontana
Francesco Janes
Claudio Bertolotti
Luca Sacchetto
Stefano Capaldi
Matteo Tagliapietra
Paola Polverino
Valentina Tommasini
Giulia Bellavita
Elham Ataie Kachoie
Roberto Baruca
Andrea Bernardini
Mariarosaria Valente
Michele Fiorini
Erika Bronzato
Stefano Tamburin
Laura Bertolasi
Lorenzo Brozzetti
Maria Paola Cecchini
Gianluigi Gigli
Salvatore Monaco
Paolo Manganotti
Gianluigi Zanusso
Publication date: 01-12-2022
Publisher: BioMed Central
Keyword: Parkinson's Disease
Published in: Translational Neurodegeneration / Issue 1/2022
Electronic ISSN: 2047-9158
DOI: https://doi.org/10.1186/s40035-022-00311-3

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Springer Medicine

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

Abstract

Background

Methods

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusion

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