Biomarkers Utilized in the Diagnosis of Synucleinopathies - Bibliography - JF Part A
Biomarkers Utilized in the Diagnosis of Synucleinopathies - Bibliography
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- Postuma RB, Berg D, Stern M, et al. MDS clinical diagnostic criteria for Parkinson's disease. Mov Disord. Oct 2015;30(12):1591–601. doi:10.1002/mds.26424
- Willis AW, Roberts E, Beck JC, et al. Incidence of Parkinson disease in North America. NPJ Parkinsons Dis. Dec 15 2022;8(1):170. doi:10.1038/s41531-022-00410-y
- Conn H, Jankovic J. Drug-induced parkinsonism: diagnosis and treatment. Expert Opin Drug Saf. Dec 2024;23(12):1503–1513. doi:10.1080/14740338.2024.2418950
- Coughlin DG, Shifflett B, Farris CM, et al. alpha-Synuclein Seed Amplification Assay Amplification Parameters and the Risk of Progression in Prodromal Parkinson Disease. Neurology. Mar 11 2025;104(5):e210279. doi:10.1212/WNL.0000000000210279
- Donadio V, Incensi A, Rizzo G, et al. Skin intraneural phosphorylated alpha-synuclein is a highly specific biomarker for early Parkinson's disease. Brain. Mar 5 2026;149(3):856–866. doi:10.1093/brain/awaf313
- Janarthanam C, Orrú CD, Hughson AG, et al. Multisite study: Predicting Lewy body disease using skin biopsy α-synuclein seed amplification assays. J Neuropathol Exp Neurol. Jun 1 2026;doi:10.1093/jnen/nlag048
- Graff-Radford J, Boeve BF, Pedraza O, et al. Imaging and acetylcholinesterase inhibitor response in dementia with Lewy bodies. Brain. Aug 2012;135(Pt 8):2470–7. doi:10.1093/brain/aws173
- McKeith IG, Fairbairn A, Perry R, Thompson P, Perry E. Neuroleptic sensitivity in patients with senile dementia of Lewy body type. British Medical Journal. 1992;305(673)doi:10.1136/bmj.305.6855.673
- Palmqvist S, Rossi M, Hall S, et al. Cognitive effects of Lewy body pathology in clinically unimpaired individuals. Nat Med. Aug 2023;29(8):1971–1978. doi:10.1038/s41591-023-02450-0
- Quadalti C, Palmqvist S, Hall S, et al. Clinical effects of Lewy body pathology in cognitively impaired individuals. Nat Med. Aug 2023;29(8):1964–1970. doi:10.1038/s41591-023-02449-7
- Rossi M, Baiardi S, Teunissen CE, et al. Diagnostic Value of the CSF alpha-Synuclein Real-Time Quaking-Induced Conversion Assay at the Prodromal MCI Stage of Dementia With Lewy Bodies. Neurology. Aug 31 2021;97(9):e930–e940. doi:10.1212/WNL.0000000000012438
- McKeith IG, Boeve BF, Dickson DW. Diagnosis and management of dementia with Lewy bodies: fourth consensus report of the DLB Consortium. Neurology. 2017;89(1):88–100. doi:10.1212/WNL.0000000000004058
- Guerreiro R, Ross OA, Kun-Rodrigues C, et al. Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study. Lancet Neurol. Jan 2018;17(1):64–74. doi:10.1016/S1474-4422(17)30400-3
- Wyman-Chick KA, Ferman TJ, Weintraub D, et al. Distinguishing Prodromal Dementia With Lewy Bodies From Prodromal Alzheimer Disease: A Longitudinal Study. Neurol Clin Pract. Feb 2025;15(1):e200380. doi:10.1212/CPJ.0000000000200380
- Sekiya H, Matsubara T, DeTure MA, Dickson DW. Neuropathology of Lewy body dementia: Lewy-related pathology, alpha-synuclein oligomers, and comorbid pathologies. Mol Neurodegener. Nov 3 2025;20(1):117. doi:10.1186/s13024-025-00900-6
- Coughlin DG, MacLeod KR, Middleton JS, et al. Association of CSF alpha-Synuclein Seeding Amplification Assay Results With Clinical Features of Possible and Probable Dementia With Lewy Bodies. Neurology. Aug 13 2024;103(3):e209656. doi:10.1212/WNL.0000000000209656
- Esteller-Gauxax D, Perez Millan A, Sarto J, et al. alpha-Synuclein Seed Amplifications Assay in a Cohort With Cognitive Impairment: Performance and Interactions With CSF and Plasma Biomarkers. Neurology. Oct 7 2025;105(7):e214040. doi:10.1212/WNL.0000000000214040
- Ma Y, Farris CM, Weber S, et al. Sensitivity and specificity of a seed amplification assay for diagnosis of multiple system atrophy: a multicentre cohort study. Lancet Neurology. 2024;23(12):1225–1237. doi:10.1016/S1474-4422(24)00364-7
- Nandanwar D, Truong DD. Multiple system atrophy: Diagnostic challenges and a proposed diagnostic algorithm. Clin Park Relat Disord. 2024;11:100271. doi:10.1016/j.prdoa.2024.100271
- Wenning GK, Stankovic I, Vignatelli L, et al. The Movement Disorder Society Criteria for the Diagnosis of Multiple System Atrophy. Mov Disord. Jun 2022;37(6):1131–1148. doi:10.1002/mds.29005
- Sailer A, Scholz SW, Nalls MA. A genome-wide association study in multiple system atrophy. Neurology. 2016;87(15):1591–1598. doi:10.1212/WNL.0000000000003221
- Sekiya H, Koga S, Murakami A, et al. Validation Study of the MDS Criteria for the Diagnosis of Multiple System Atrophy in the Mayo Clinic Brain Bank. Neurology. Dec 12 2023;101(24):e2460–e2471. doi:10.1212/WNL.0000000000207905
- Goldstein DS, Holmes C, Cannon ROI, Eisenhofer G, Kopin IJ. Sympathetic cardioneuropathy in dysautonomias. New England Journal of Medicine. 1997;336(10):696–702. doi:10.1056/NEJM199703063361004
- Singer W, Berini SE, Sandroni P, et al. Pure autonomic failure: predictors of conversion to clinical CNS involvement. Neurology. 2017;88(12):1129–1136. doi:10.1212/WNL.0000000000003737
- Coon EA, Mandrekar JN, Berini SE, et al. Predicting phenoconversion in pure autonomic failure. Neurology. Aug 18 2020;95(7):e889–e897. doi:10.1212/WNL.0000000000010002
- Giannoccaro MP, Avoni P, Rizzo G, et al. Presence of Skin alpha-Synuclein Deposits Discriminates Parkinson's Disease from Progressive Supranuclear Palsy and Corticobasal Syndrome. J Parkinsons Dis. 2022;12(2):585–591. doi:10.3233/JPD-212904
- Vaughan DP, Fumi R, Theilmann Jensen M, et al. Evaluation of Cerebrospinal Fluid alpha-Synuclein Seed Amplification Assay in Progressive Supranuclear Palsy and Corticobasal Syndrome. Mov Disord. Dec 2024;39(12):2285–2291. doi:10.1002/mds.30019
- Jabbari E, Holland N, Chelban V, et al. Diagnosis Across the Spectrum of Progressive Supranuclear Palsy and Corticobasal Syndrome. JAMA Neurol. Mar 1 2020;77(3):377–387. doi:10.1001/jamaneurol.2019.4347
- Plastini MJ, Abdelnour C, Young CB, et al. Multiple biomarkers improve diagnostic accuracy across Lewy body and Alzheimer's disease spectra. Ann Clin Transl Neurol. May 2024;11(5):1197–1210. doi:10.1002/acn3.52034
- Tosun D, Hausle Z, Iwaki H, et al. A cross-sectional study of alpha-synuclein seed amplification assay in Alzheimer's disease neuroimaging initiative: Prevalence and associations with Alzheimer's disease biomarkers and cognitive function. Alzheimers Dement. Aug 2024;20(8):5114–5131. doi:10.1002/alz.13858
- Twohig D, Nielsen HM. alpha-synuclein in the pathophysiology of Alzheimer's disease. Mol Neurodegener. Jun 11 2019;14(1):23. doi:10.1186/s13024-019-0320-x
- Martinez-Valbuena I, Fullam S, O'Dowd S, Tartaglia MC, Kovacs GG. alpha-Synuclein seed amplification assay positivity beyond synucleinopathies. EBioMedicine. Oct 2025;120:105925. doi:10.1016/j.ebiom.2025.105925
- Arnold MR, Coughlin DG, Brumbach BH, et al. α‐Synuclein Seed Amplification in CSF and Brain from Patients with Different Brain Distributions of Pathological α‐Synuclein in the Context of Co‐Pathology and Non‐LBD Diagnoses. Annals of Neurology. 2022;92(4):650–662. doi:10.1002/ana.26453
- Fernandes Gomes B, Farris CM, Ma Y, et al. Alzheimer's disease traits in Parkinson's disease without alpha-synuclein seeding. Alzheimers Dement. May 2025;21(5):e70284. doi:10.1002/alz.70284
- Kon T, Tomiyama M, Wakabayashi K. Neuropathology of Lewy body disease: Clinicopathological crosstalk between typical and atypical cases. Neuropathology. Feb 2020;40(1):30–39. doi:10.1111/neup.12597
- Goedert M, Jakes R, Spillantini MG. The Synucleinopathies: Twenty Years On. J Parkinsons Dis. 2017;7(s1):S51–S69. doi:10.3233/JPD-179005
- Bras IC, Dominguez-Meijide A, Gerhardt E, et al. Synucleinopathies: Where we are and where we need to go. J Neurochem. May 2020;153(4):433–454. doi:10.1111/jnc.14965
- Sharma M, Burre J. alpha-Synuclein in synaptic function and dysfunction. Trends Neurosci. Feb 2023;46(2):153–166. doi:10.1016/j.tins.2022.11.007
- Calabresi P, Mechelli A, Natale G, Volpicelli-Daley L, Di Lazzaro G, Ghiglieri V. Alpha-synuclein in Parkinson's disease and other synucleinopathies: from overt neurodegeneration back to early synaptic dysfunction. Cell Death Dis. Mar 1 2023;14(3):176. doi:10.1038/s41419-023-05672-9
- Yaribash S, Mohammadi K, Sani MA. Alpha-Synuclein Pathophysiology in Neurodegenerative Disorders: A Review Focusing on Molecular Mechanisms and Treatment Advances in Parkinson's Disease. Cell Mol Neurobiol. Mar 26 2025;45(1):30. doi:10.1007/s10571-025-01544-2
- Soto C, Mollenhauer B, Hansson O, et al. Toward a biological definition of neuronal and glial synucleinopathies. Nat Med. Feb 2025;31(2):396–408. doi:10.1038/s41591-024-03469-7
- Marek K, Russell DS, Concha-Marambio L, et al. Evidence for alpha-synuclein aggregation in older individuals with hyposmia: a cross-sectional study. EBioMedicine. 2025;112doi:10.1016/j.ebiom.2025.105567
- Middleton JS, Hovren HL, Kha N, et al. Seed amplification assay results illustrate discrepancy in Parkinson's disease clinical diagnostic accuracy and error rates. J Neurol. Dec 2023;270(12):5813–5818. doi:10.1007/s00415-023-11810-2
- Orru CD, Vaughan DP, Vijiaratnam N, et al. Diagnostic and prognostic value of alpha-synuclein seed amplification assay kinetic measures in Parkinson's disease: a longitudinal cohort study. Lancet Neurol. Jul 2025;24(7):580–590. doi:10.1016/S1474-4422(25)00157-7
- Poggiolini I, Gupta V, Lawton M, et al. Diagnostic value of cerebrospinal fluid alpha-synuclein seed quantification in synucleinopathies. Brain. Apr 18 2022;145(2):584–595. doi:10.1093/brain/awab431
- Russo MJ, Orru CD, Concha-Marambio L, et al. High diagnostic performance of independent alpha-synuclein seed amplification assays for detection of early Parkinson's disease. Acta Neuropathol Commun. Nov 6 2021;9(1):179. doi:10.1186/s40478-021-01282-8
- Samudra N, Fischer DL, Lenio S, et al. Clinicopathological correlation of cerebrospinal fluid alpha-synuclein seed amplification assay in a behavioral neurology autopsy cohort. Alzheimers Dement. May 2024;20(5):3334–3341. doi:10.1002/alz.13799
- Siderowf A, Concha-Marambio L. High diagnostic accuracy of the α-synuclein seed amplification assay informs Parkinson's disease heterogeneity and disease onset in the PPMI cohort. 2023.
- Smith R, Hovren H, Bowser R, et al. Misfolded alpha-synuclein in amyotrophic lateral sclerosis: Implications for diagnosis and treatment. Eur J Neurol. Apr 2024;31(4):e16206. doi:10.1111/ene.16206
- Tosun D, Hausle Z, Thropp P, et al. Association of CSF alpha-synuclein seed amplification assay positivity with disease progression and cognitive decline: A longitudinal Alzheimer's Disease Neuroimaging Initiative study. Alzheimers Dement. Dec 2024;20(12):8444–8460. doi:10.1002/alz.14276
- Weber S, Farris CM, Ma Y, et al. Anosmia and Upper Limb Rigidity-A Potential Phenotype of Idiopathic Normal Pressure Hydrocephalus with Cerebrospinal Fluid alpha-Synuclein Seeds. Mov Disord. Jun 2025;40(6):1206–1213. doi:10.1002/mds.30184
- Shahnawaz M, Mukherjee A, Pritzkow S, et al. Discriminating alpha-synuclein strains in Parkinson's disease and multiple system atrophy. Nature. Feb 2020;578(7794):273–277. doi:10.1038/s41586-020-1984-7
- Bellomo G, De Luca CMG, Paoletti FP, Gaetani L, Moda F, Parnetti L. alpha-Synuclein Seed Amplification Assays for Diagnosing Synucleinopathies: The Way Forward. Neurology. Aug 2 2022;99(5):195–205. doi:10.1212/WNL.0000000000200878
- Chahine LM, Chatterjee K, Gochanour C, et al. Dermal Phospho-Alpha-Synuclein Among Individuals With and Without Cerebrospinal Fluid Aggregated Alpha-Synuclein. 2025.
- Concha-Marambio L, Weber S, Farris CM, et al. Accurate Detection of alpha-Synuclein Seeds in Cerebrospinal Fluid from Isolated Rapid Eye Movement Sleep Behavior Disorder and Patients with Parkinson's Disease in the DeNovo Parkinson (DeNoPa) Cohort. Mov Disord. Apr 2023;38(4):567–578. doi:10.1002/mds.29329
- Liu M, Wen T, Luo H, et al. Distinct cutaneous alpha-synuclein signatures in body-first and brain-first Parkinson's disease subtypes. Brain. May 5 2026;149(5):1554–1567. doi:10.1093/brain/awaf395
- Kuzkina A, Panzer C, Seger A, et al. Dermal Real-Time Quaking-Induced Conversion Is a Sensitive Marker to Confirm Isolated Rapid Eye Movement Sleep Behavior Disorder as an Early alpha-Synucleinopathy. Mov Disord. Jun 2023;38(6):1077–1082. doi:10.1002/mds.29340
- Haga R, Sugimoto K, Nishijima H, et al. Clinical Utility of Skin Biopsy in Differentiating between Parkinson's Disease and Multiple System Atrophy. Parkinsons Dis. 2015;2015:167038. doi:10.1155/2015/167038
- Isaacson J, Freeman R, Gibbons C. Clinical utility of synuclein skin biopsy in the diagnosis and evaluation of synucleinopathies. 2024.
- Gibbons C, Wang N, Rajan S, et al. Cutaneous alpha-Synuclein Signatures in Patients With Multiple System Atrophy and Parkinson Disease. Neurology. Apr 11 2023;100(15):e1529–e1539. doi:10.1212/WNL.0000000000206772
- Gibbons CH, Levine T, Adler C, et al. Skin Biopsy Detection of Phosphorylated alpha-Synuclein in Patients With Synucleinopathies. JAMA. Apr 16 2024;331(15):1298–1306. doi:10.1001/jama.2024.0792
- Miglis MG, Zitser J, Schneider L, et al. Cutaneous alpha-synuclein is correlated with autonomic impairment in isolated rapid eye movement sleep behavior disorder. Sleep. Dec 10 2021;44(12)doi:10.1093/sleep/zsab172
- Rigby MJ, Botha H, Barnard LR, et al. Skin Biopsy for Phosphorylated alpha-Synuclein in Mild Cognitive Impairment or Dementia Due to Lewy Body Disease in a Convenience Cohort from a Subspecialty Behavioral Neurology Practice. Mov Disord. Apr 2026;41(4):962–971. doi:10.1002/mds.70158
- Bellomo G, Stoops E, Vanbrabant J, et al. Phosphorylated alpha-synuclein in CSF and plasma does not reflect synucleinopathy. NPJ Parkinsons Dis. Aug 7 2025;11(1):232. doi:10.1038/s41531-025-01086-w
- Coughlin DG, Adler CH, Barbosa W, et al. CSF alpha-Synuclein Seed Amplification Assays and Skin Immunofluorescence: Clinical Applications, Research Opportunities, and Knowledge Gaps. Neurology. Feb 10 2026;106(3):e214648. doi:10.1212/WNL.0000000000214648
- Morbelli S, Esposito G, Arbizu J, et al. EANM practice guideline/SNMMI procedure standard for dopaminergic imaging in Parkinsonian syndromes 1.0. Eur J Nucl Med Mol Imaging. Jul 2020;47(8):1885–1912. doi:10.1007/s00259-020-04817-8
Last Updated Sep 11 , 2026