ArticleNeurology2023
Misfolded α-Synuclein Assessment in the Skin and CSF by RT-QuIC in Isolated REM Sleep Behavior Disorder.
Article in Neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 1 of them a synthesis that pooled it.
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Who cites it
61 citing papers in PubMed, 1 synthesis or guideline pooled it, 96 citations in OpenAlex.
- Biofluid Detection of Pathological α-Synuclein in the Prodromal Phase of Synucleinopathies.Journal of Parkinson's disease · 2024Pooled it
- Cognitive training and promoting a healthy lifestyle in isolated REM sleep behavior disorder: The randomized controlled trial CogTrAiL-RBD.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Trial
- Spatial multi-omics identifies early synaptic pruning and context-specific dopaminergic vulnerability in synucleinopathies.Nature communications · 2026Article
- Advances in biomarkers for Parkinson's disease: from molecular pathology to precision diagnostics.Journal of Zhejiang University. Science. B · 2026Review
- Characterization of patients with isolated REM sleep behavior disorder and cerebrospinal fluid α-synuclein negativity.NPJ Parkinson's disease · 2026Article
- A Systematic Comparison of Alpha-Synuclein Seed Amplification Assays for Increasing Reproducibility.Annals of clinical and translational neurology · 2026Review
- A Two-Stage Questionnaire and Actigraphy Screening for iRBD in a Multicenter Retrospective Cohort.Annals of clinical and translational neurology · 2026Article
- Age-dependent peripheral dissemination of α-synuclein seeds: mechanistic basis for blood-based early detection of Parkinson's disease.Acta neuropathologica communications · 2026Article
- Features of Cross-Seeding of Wild-Type Alpha-Synuclein and Its Mutant Form A53T Potentially Useful for the Development of Test Systems.Life (Basel, Switzerland) · 2026Article
- Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.Nature communications · 2026Article
- Alpha-Synuclein in Neurodegeneration: From Shared Biology to Disease-Specific Phenotypes.Cells · 2026Review
- Skin-Based α-Synuclein Deposits Detection Across the Prodromal Continuum of Synucleinopathies: Updated Evidence and Perspectives.Biomolecules · 2026Review
- Towards biomarker-based diagnosis of Parkinson disease.Nature reviews. Neurology · 2026Review
- Detection of alpha-synuclein seeding activity in tear fluid in patients with Parkinson's disease.NPJ Parkinson's disease · 2026Article
- Prodromal Lewy Body Symptoms and α-Synuclein Seeding in Idiopathic Olfactory Dysfunction.Movement disorders clinical practice · 2026Article
- When Proteins Go MAD-Misfolded, Amplified, Detected: Advances in α-Synuclein Pathophysiology and RT-QuIC Detection.Molecular neurobiology · 2026Review
- α-Synuclein Real-Time Quaking-Induced Conversion Assay as a Biomarker for Parkinson's Disease: Clinical Implications and Perspectives.Journal of clinical neurology (Seoul, Korea) · 2026Review
- The North American Prodromal Synucleinopathy study: protocol for a multi-site, longitudinal, observational study of idiopathic/isolated rapid eye movement sleep behavior disorder.Sleep advances : a journal of the Sleep Research Society · 2026Article
- CSF α-Synuclein Seed Amplification Assays and Alzheimer Disease Biomarkers in Dementia With Lewy Bodies: Presentation and Progression.Neurology · 2025Article
- Article
1 more citing papers are in PubMed but not listed here.
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15 authors at 1 institution in 1 country.
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Abstract
BACKGROUND AND
objectivesReal-time quaking-induced conversion (RT-QuIC) assay detects misfolded α-synuclein (AS) in the skin and CSF of patients with the synucleinopathies Parkinson disease and dementia with Lewy bodies. Isolated REM sleep behavior disorder (IRBD) constitutes the prodromal stage of these synucleinopathies. We aimed to compare the ability of RT-QuIC to identify AS in the skin and CSF of patients with IRBD.
methodsThis was a cross-sectional study where consecutive patients with polysomnographic-confirmed IRBD and age-matched controls without RBD underwent skin biopsy and lumbar puncture the same day. Three-millimeter skin punch biopsies were obtained bilaterally in the cervical region from dorsal C7 and C8 dermatomes and in distal legs. RT-QuIC assessed AS in these 6 skin sites and the CSF.
resultsWe recruited 91 patients with IRBD and 41 controls. In the skin, sensitivity to detect AS was 76.9% (95% CI 66.9-85.1), specificity 97.6% (95% CI 87.1-99.9) positive predictive value 98.6% (95% CI 91.0-99.8), negative predictive value 65.6% (95% CI 56.6-73.6), and accuracy 83.3% (95% CI 75.9-89.3). In the CSF, the sensitivity was 75.0% (95% CI 64.6-83.6), the specificity was 97.5% (95% CI 86.8-99.9), the positive predictive value was 98.5% (95% CI 90.5-99.8), the negative predictive value was 63.9% (95% CI 55.2-71.9), and the accuracy was 82.0% (95% CI 74.3-88.3). Results in the skin and CSF samples showed 99.2% agreement. Compared with negative patients, RT-QuIC AS-positive patients had a higher likelihood ratio of prodromal Parkinson disease ( DISCUSSION: Our study in IRBD shows that (1) RT-QuIC detects AS in the skin and CSF with similar high sensitivity, specificity, and agreement, (2) AS RT-QuIC positivity is associated with supportive features and biomarkers of synucleinopathy, and (3) skin punch biopsy and lumbar puncture have comparable mild adverse effects, tolerance, and acceptance. RT-QuIC in the skin or CSF might represent a patient selection strategy for future neuroprotective trials targeting AS in IRBD. CLASSIFICATION OF EVIDENCE: This study provides Class III evidence that RT-QuIC-detected AS in the skin and CSF distinguishes patients with IRBD from controls.
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