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- Title
α‐Synuclein Pathology in PRKN‐Linked Parkinson's Disease: New Insights from a Blood‐Based Seed Amplification Assay.
- Authors
Kluge, Annika; Borsche, Max; Streubel‐Gallasch, Linn; Gül, Tuğçe; Schaake, Susen; Balck, Alexander; Prasuhn, Jannik; Campbell, Philip; Morris, Huw R.; Schapira, Anthony H.; Lohmann, Katja; Brüggemann, Norbert; Rakovic, Aleksandar; Seibler, Philip; Başak, A. Nazlı; Berg, Daniela; Klein, Christine
- Abstract
Pathogenic variants in PRKN cause early‐onset Parkinson's disease (PD), while the role of alpha‐synuclein in PRKN‐PD remains uncertain. One study performed a blood‐based alpha‐synuclein seed amplification assay (SAA) in PRKN‐PD, not detecting seed amplification in 17 PRKN‐PD patients. By applying a methodologically different SAA focusing on neuron‐derived extracellular vesicles, we demonstrated alpha‐synuclein seed amplification in 8 of 13 PRKN‐PD patients, challenging the view of PRKN‐PD as a non‐synucleinopathy. Moreover, we performed blinded replication of the neuron‐derived extracellular vesicles‐dependent SAA in idiopathic PD patients and healthy controls. In conclusion, blood‐based neuron‐derived extracellular vesicles‐dependent SAA represents a promising biomarker to elucidate the underpinnings of (monogenic) PD. ANN NEUROL 2024;95:1173–1177
- Subjects
PARKINSON'S disease; ALPHA-synuclein; EXTRACELLULAR vesicles; SEEDS
- Publication
Annals of Neurology, 2024, Vol 95, Issue 6, p1173
- ISSN
0364-5134
- Publication type
Article
- DOI
10.1002/ana.26917