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Analysis of Skin Biopsies from the Systemic Synuclein Sampling Study by Alpha-synuclein Seed Amplification Assay

Study Rationale: Alpha-synuclein seed amplification assays have been shown to enable an accurate and early diagnosis of Parkinson’s disease (PD). However, this test currently relies on cerebrospinal fluid (CSF) obtained by a lumbar puncture. To broaden its diagnostic application, the assay should ideally work on more easily obtained peripheral tissue samples, such as skin. Some groups have shown that skin samples can be analyzed with accuracies similar to those for CSF. In this study, we propose to analyze existing skin samples from the MJFF Systemic Synuclein Sampling Study (S4).

Hypothesis: We hypothesize that we can remove the paraffin coating from the skin sample biopsies collected for S4 and analyze the samples using our seed amplification assay.

Study Design: We will remove the paraffin from the S4 skin biopsies according to an established protocol and prepare the samples using an established alpha-synuclein seed amplification assay in our laboratory.

Impact on Diagnosis/Treatment of Parkinson’s disease: If successful, we can compare the amplified alpha-synuclein from the S4 skin samples with that of CSF and salivary gland biopsies (currently available) and with blood samples once the assay is established for blood. This comparison will enable an intraindividual analysis of alpha-synuclein across different fluids and tissues.

Next Steps for Development: We are currently working on establishing an alpha-synuclein seed amplification assay for blood. Such a test would be highly desirable for diagnostics. S4 samples are currently part of a test set, which will enable us to include blood in an analysis of intraindividual differences in alpha-synuclein across different tissues.


  • Brit Mollenhauer, MD

    Goettingen Germany

  • Luis Concha, PhD

    San Diego, CA United States

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