Recasting diagnosis for synucleinopathies
"The power of diagnostics is it provides insight into what the patient is experiencing, and it can help inform them about what is going to happen over time. SAAmplify-αSYN can do both of those things, both in patients with Alzheimer’s and in patients with other alpha-synuclein folding disorders.”
William Morice II, M.D., Ph.D., CEO and President of Mayo Clinic Laboratories
The advantages of Mayo Clinic Laboratories’ α-synuclein biomarker testing
Empowering confidence with autopsy-confirmed accuracy
Mayo Clinic Laboratories, in collaboration with Amprion, offers the SAAmplify–αSYN seed amplification assay that detects misfolded α-synuclein in CSF with autopsy-confirmed accuracy. This first-in-class test offers 96% sensitivity and 92% specificity, and 94% overall diagnostic accuracy in the detection of α-synuclein pathology.6,7
Clarify causes with answers that illuminate
Results from SAAmplify-αSYN provide differential clarity to rule out many Parkinson’s disease mimics and Alzheimer’s disease with Lewy body mixed pathology (AD-LB).
- Detected-1 result indicates neuronal synuclein disease (e.g., Parkinson’s disease, DLB, AD-LB).
- Detected-2 result is consistent with pathology found predominantly in patients with MSA. (Validation is underway to enhance the sensitivity in detecting MSA aggregates.)
- Not detected result indicates misfolded α-synuclein aggregates were not detected. This result is inconsistent with a pathological diagnosis of synucleinopathy.8
Improving outcomes with tailored care
The ability to accurately identify α-synuclein pathology even before symptoms appear enables the selection of safer medication alternatives and time to plan for supportive care needed by patients to maintain and enhance their quality of life. Learn more about synucleinopathy testing at Mayo Clinic Laboratories.
Clarifying challenging diagnosis
Movement disorders, such as MSA
Movement disorders, such as MSA and Parkinson’s disease, are primarily diagnosed on clinical presentation, including observation of motor symptoms.
- Autopsy-confirmed studies have demonstrated a 30% misdiagnosis rate in patients with Parkinson’s disease.
- MSA, which progresses more quickly and responds poorly to certain Parkinson’s disease treatments, is often misdiagnosed as Parkinson’s disease.
- Radioactive imaging can reveal reduced dopamine transporter activity that is typical of both Parkinson’s disease and progressive supranuclear palsy, but it cannot distinguish between them.
Dementia with Lewy bodies
Dementia with Lewy bodies, which is the second most common type of dementia after Alzheimer’s disease, is often initially misdiagnosed. DLB:
- Affects executive function, speed of cognition, movement, mood, and memory.
- Often presents initially with hallucinations.
- Has a poorer prognosis.
- Responds adversely to certain medications often used to treat psychosis and agitation (e.g., haloperidol, lorazepam).
- Patients, when mismanaged, experience rapid cognitive and functional decline, severe sedation, worsened Parkinsonism, and potentially life-threatening reactions.
Amplify your understanding of synucleinopathy testing
Learn more about how α-synuclein biomarker testing available through Mayo Clinic Laboratories can help to resolve challenging differential diagnoses with confidence, speed, and clarity. Schedule a time to speak with one of our clinical specialists.
Highlights
SAAmplify™-αSYN testing offers unprecedented accuracy in diagnosing Parkinson’s and Lewy body dementia.
Join us for a webinar exploring the revolutionary way SAAmplify™–αSYN testing, which is offered by Mayo Clinic Laboratories in collaboration with Amprion, is improving diagnostic accuracy for patients with neurodegenerative disorders.
For healthcare professionals seeking to enhance their understanding of the assessment and treatment options for patients with neurodegenerative diseases.
In this episode of “Answers From the Lab,” William Morice II, M.D., Ph.D., CEO and president of Mayo Clinic Laboratories, is joined by Russ Lebovitz, M.D., Ph.D., CEO and co-founder of Amprion. They discuss their strategic collaboration and the innovative SAAmplify™–αSYN (CSF) test.
Mayo Clinic Laboratories and Amprion, a global leader advancing diagnosis of neurodegenerative disorders through seed amplification testing, today announced a collaboration to expand access to Amprion's SAAmplify–αSYN (CSF) test across the United States. The test (test ID ASYNC) is available today for clients of Mayo Clinic Laboratories through the collaboration that combines the expertise of both organizations to enhance patient care and improve diagnostic accuracy for neurodegenerative diseases.
Resources
References
- Tosun D, Hausle Z, Thropp P, et al. Alzheimer's Disease Neuroimaging Initiative; Blauwendraat C. Association of CSF α-synuclein seed amplification assay positivity with disease progression and cognitive decline: A longitudinal Alzheimer's Disease Neuroimaging Initiative study. Alzheimers Dement. 2024 Dec;20(12):8444-8460. https://doi.org/10.1002/alz.14276 Epub 2024 Oct 20. PMID: 39428831; PMCID: PMC11667524.
- Bringing LBD Out of the Shadows: Increasing Knowledge, Sharing Experience, Building Hope. Annual Report for 2009-2010. Lewy Body Dementia Association. https://www.lbda.org/wp-content/uploads/2020/08/lbda_2009-2010annualreport.pdf
- Beach T, Adler C. Importance of low diagnostic accuracy for early Parkinson’s disease. Mov Disord. 2018 Oct;33(10): 1551-1554.
- Ding Y, Wang L, Liu J, Deng Y, Jiao Y, Zhao A. Distinct CSF α-synuclein aggregation profiles associated with Alzheimer's disease phenotypes and MCI-to-AD conversion. The J Prev Alzheimers Dis. Volume 12, Issue 2, 2025,100040, ISSN 2274-5807. https://doi.org/10.1016/j.tjpad.2024.100040
- Hall C, Salvioni Chiabotti P, Bommarito G., et al. Cerebral amyloid angiopathy in patients with Dementia with Lewy Bodies: A clinical and hippocampal morphology study. Parkinsonism & Related Disorders. 2025. Volume 137, 107892, ISSN 1353-8020. https://doi.org/10.1016/j.parkreldis.2025.107892
- Ma Y, Farris C, Weber S, et al. Sensitivity and specificity of a seed amplification assay for diagnosis of multiple system atrophy: a multicentre cohort study. Lancet Neurol. 2024 Dec;23(12):1225-1237.
- Rossi M, Candelise N, Baiardi S, et al. Ultrasensitive RT-QuIC assay with high sensitivity and specificity for Lewy body-associated synucleinopathies. Acta Neuropathol. 2020 Jul;140(1):49-62. https://doi.org/10.1007/s00401-020-02160-8. Epub 2020 Apr 27. Erratum in: Acta Neuropathol. 2020. Aug;140(2):245. https://doi.org/10.1007/s00401-020-02170-6 PMID: 32342188; PMCID: PMC7299922.
- Vaughan, D, Fumi, R, Theilmann Jensen, M, et al. Evaluation of cerebrospinal fluid α-synuclein seed amplification assay in progressive supranuclear palsy and corticobasal syndrome. Mov Disord. 2024 39: 2285-2291. https://doi.org/10.1002/mds.30019