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- Title
Salivary α‐Synuclein as a Candidate Biomarker of Parkinsonism in 22q11.2 Deletion Syndrome.
- Authors
Fanella, Martina; Cerulli Irelli, Emanuele; Accinni, Tommaso; Di Fabio, Fabio; Putotto, Carolina; Pulvirenti, Federica; Bellomi, Francesco E.; Di Bonaventura, Carlo; Vivacqua, Giorgio
- Abstract
Background: 22q11.2 deletion syndrome (22q11.2DS) has been linked to an increased risk of early‐onset Parkinson's disease. However, the pathophysiological mechanisms underlying parkinsonism remain poorly understood. Objective: The objective is to investigate salivary total α‐synuclein levels in 22q11.2DS patients with and without parkinsonian motor signs. Methods: This cross‐sectional study included 10 patients with 22q11.2DS with parkinsonism (Park+), ten 22q11.2DS patients without parkinsonism (Park−), and 10 age and sex‐comparable healthy subjects (HS). Salivary and serum α‐synuclein levels were measured using enzyme‐linked immunosorbent assay. Results: Salivary total α‐synuclein concentration was significantly lower in Park (+) patients than in Park (−) patients and HS (P = 0.007). In addition, salivary α‐synuclein showed good accuracy in discriminating Park (+) from Park (−) patients (area under the curve = 0.86) and correlated with motor severity and cognitive impairment. Conclusion: This exploratory study suggests that the parkinsonian phenotype of 22q11.2DS is associated with a reduced concentration of monomeric α‐synuclein in biological fluids.
- Subjects
DIGEORGE syndrome; ALPHA-synuclein; PARKINSONIAN disorders; 22Q11 deletion syndrome; PARKINSON'S disease; ENZYME-linked immunosorbent assay
- Publication
Movement Disorders Clinical Practice, 2024, Vol 11, Issue 7, p808
- ISSN
2330-1619
- Publication type
Article
- DOI
10.1002/mdc3.14046