Evaluation of Cerebrospinal Fluid α-Synuclein Seed Amplification Assay in Progressive Supranuclear Palsy and Corticobasal Syndrome

Mov Disord. 2024 Dec;39(12):2285-2291. doi: 10.1002/mds.30019. Epub 2024 Sep 20.

Abstract

Background: Seed amplification assay (SAA) testing has been developed as a biomarker for the diagnosis of α-synuclein-related neurodegenerative disorders.

Objective: The objective of this study was to assess the rate of α-synuclein SAA positivity in progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) and to analyze clinical and pathological features of SAA-positive and -negative cases.

Methods: A total of 96 cerebrospinal fluid samples from clinically diagnosed PSP (n = 59) and CBS (n = 37) cases were analyzed using α-synuclein SAA.

Results: Six of 59 (10.2%) PSP cases were α-synuclein SAA positive, including one case who was MSA-type positive. An exploratory analysis showed that PSP cases who were Parkinson's disease-type positive were older and had a shorter disease duration compared with SAA-negative cases. In contrast, 11 of 37 (29.7%) CBS cases were α-synuclein SAA positive, including two cases who were MSA-type positive.

Conclusions: Our results suggest that α-synuclein seeds can be detected in PSP and CBS using a cerebrospinal fluid α-synuclein SAA, and in PSP this may impact on clinical course.

Keywords: biomarker; diagnosis; neuropathology; synucleinopathies; tauopathies.

MeSH terms

  • Aged
  • Aged, 80 and over
  • Biomarkers / cerebrospinal fluid
  • Corticobasal Degeneration / cerebrospinal fluid
  • Corticobasal Degeneration / diagnosis
  • Female
  • Humans
  • Male
  • Middle Aged
  • Supranuclear Palsy, Progressive* / cerebrospinal fluid
  • Supranuclear Palsy, Progressive* / diagnosis
  • alpha-Synuclein* / cerebrospinal fluid

Substances

  • alpha-Synuclein
  • Biomarkers