ArticleMovement disorders : official journal of the Movement Disorder Society2020
Blinded RT-QuIC Analysis of α-Synuclein Biomarker in Skin Tissue From Parkinson's Disease Patients.
Article in Movement disorders : official journal of the Movement Disorder Society, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 93 papers, 1 of them a synthesis that pooled it.
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Who cites it
93 citing papers in PubMed, 1 synthesis or guideline pooled it, 151 citations in OpenAlex.
- Skin α-synuclein assays in diagnosing Parkinson's disease: a systematic review and meta-analysis.Journal of neurology · 2025Pooled it
- Seed Amplification Assays for Parkinson's Disease: A Review of α-Synuclein Assays in Body Fluids and Tissues.Journal of neurochemistry · 2026Review
- Tear fluid as a novel specimen for detection of alpha-synuclein seeding activity in Parkinson's disease.Scientific reports · 2026Article
- Ten-Year Retrospective Study on the Diagnostic Value of Three-Site Skin Biopsy for Detecting pS129-α-Synuclein Biomarker: Cervical and Leg Dual-Site Biopsy as an Effective and Less Invasive Alternative.European journal of neurology · 2026Article
- Where do PDD and DLB SYNdromes fit in neuronal alpha-SYNuclein biological frameworks?Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Prodromal Lewy Body Symptoms and α-Synuclein Seeding in Idiopathic Olfactory Dysfunction.Movement disorders clinical practice · 2026Article
- Prions and protein aggregates as pathogens, self-propagating structures, biomarkers, and therapeutic targets.Microbiology and molecular biology reviews : MMBR · 2025Review
- Seed amplification of MSA alpha-synuclein aggregates preserves the biological and structural properties of brain-derived aggregates.Nature communications · 2025Article
- Quantitative measurements of α-synuclein seeds in CSF inform diagnosis of synucleinopathies.Journal of Parkinson's disease · 2025Article
- Exploring the skin as an open window onto neurodegenerative diseases.Translational neurodegeneration · 2025Review
- Cognitive function correlates with gastric alpha-synuclein seeding activity in early Parkinson's disease.NPJ Parkinson's disease · 2025Article
- Micro- and nanoscale biosensing technologies for early diagnosis of Parkinson's disease.Mikrochimica acta · 2025Review
- Detection of Human Prion Seeding Activity in Formalin-Fixed Paraffin-Embedded Archival Tissues.Neuropathology and applied neurobiology · 2025Article
- Feasibility of a single-day protocol for SPECT and PET assessment of dopamine transporter availability, cardiac innervation and metabolic patterns in patients with movement disorders.European journal of nuclear medicine and molecular imaging · 2025Article
- Alpha-Synuclein Seed Amplification Assays in Parkinson's Disease: A Systematic Review and Network Meta-Analysis.Clinics and practice · 2025Review
- Advancing Parkinson's diagnosis: seed amplification assay for α-synuclein detection in minimally invasive samples.Molecular and cellular biochemistry · 2025Review
- Accurate detection of pathologic α-synuclein in CSF, skin, olfactory mucosa, and urine with a uniform seeding amplification assay.Acta neuropathologica communications · 2025Article
- α-Synuclein in Parkinson's Disease: From Bench to Bedside.Medicinal research reviews · 2025Review
- Seeding amplification assay: Limitations and insights for enhanced clinical and research applications.Journal of Parkinson's disease · 2025Review
- Alzheimer's disease neuropathology and its estimation with fluid and imaging biomarkers.Molecular neurodegeneration · 2025Review
33 more citing papers are in PubMed but not listed here.
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundAn unmet clinical need in Parkinson's disease (PD) is to identify biomarkers for diagnosis, preferably in peripherally accessible tissues such as skin. Immunohistochemical studies have detected pathological α-synuclein (αSyn) in skin biopsies from PD patients albeit sensitivity needs to be improved.
objectiveOur study provides the ultrasensitive detection of pathological αSyn present in the skin of PD patients, and thus, pathological αSyn in skin could be a potential biomarker for PD.
methodsThe real-time quaking-induced conversion assay was used to detect pathological αSyn present in human skin tissues. Further, we optimized this ultra-sensitive and specific assay for both frozen and formalin-fixed paraffin-embedded sections of skin tissues. We determined the seeding kinetics of the αSyn present in the skin from autopsied subjects consisting of frozen skin tissues from 25 PD and 25 controls and formalin-fixed paraffin-embedded skin sections from 12 PD and 12 controls.
resultsIn a blinded study of skin tissues from autopsied subjects, we correctly identified 24/25 PD and 24/25 controls using frozen skin tissues (96% sensitivity and 96% specificity) compared to 9/12 PD and 10/12 controls using formalin-fixed paraffin-embedded skin sections (75% sensitivity and 83% specificity).
conclusionsOur blinded study results clearly demonstrate the feasibility of using skin tissues for clinical diagnosis of PD by detecting pathological αSyn. Moreover, this peripheral biomarker discovery study may have broader translational value in detecting misfolded proteins in skin samples as a longitudinal progression marker. © 2020 International Parkinson and Movement Disorder Society.
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