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Updated: Aug 14, 2026
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Targeting Alpha Synuclein Aggregates in Cutaneous Peripheral Nerve Fibers by Free-floating Immunofluorescence Assay
Published on: June 25, 2019
Cutaneous alpha-synuclein deposition informs autonomic function in individuals with early-stage multiple system
Paula Trujillo1, Leah Mann2, Bailey Bellaire3
1Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA. paula.trujillo@vumc.org.
Summary
Cutaneous phosphorylated alpha-synuclein increases over time in multiple system atrophy patients, correlating with autonomic dysfunction. Skin biopsies show promise for diagnosing and monitoring this neurodegenerative disease.
Area of Science:
- Neuroscience
- Biomarker Discovery
Background:
- Multiple system atrophy (MSA) is a progressive neurodegenerative disorder.
- Autonomic failure, parkinsonism, and cerebellar ataxia are key features of MSA.
- Phosphorylated alpha-synuclein in skin nerves is a potential biomarker, but longitudinal data is scarce.
Purpose of the Study:
- To assess changes in cutaneous phosphorylated alpha-synuclein over 12 months.
- To investigate the association between skin alpha-synuclein and autonomic dysfunction.
- To evaluate the concordance with seed amplification assay (SAA) findings.
Main Methods:
- Seventeen participants with probable MSA underwent 12-month follow-up.
- Methods included clinical assessments, skin biopsies (posterior cervical and distal thigh), orthostatic vital signs, and CSF collection.
- Phosphorylated alpha-synuclein was quantified via immunofluorescence microscopy and correlated with clinical and SAA data.
Main Results:
- Cutaneous phosphorylated alpha-synuclein deposition increased significantly from baseline to 12 months.
- Deposition correlated with orthostatic systolic blood pressure drop and autonomic symptom scores.
- Posterior cervical deposition showed stronger autonomic correlations than distal thigh deposition.
Conclusions:
- Cutaneous phosphorylated alpha-synuclein increases longitudinally in early MSA.
- Skin biopsy is a minimally invasive tool for supporting MSA diagnosis and monitoring progression.
- This biomarker may aid in stratifying patients for clinical trials.
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