التفاصيل البيبلوغرافية
| العنوان: |
Skin α‐Synuclein Seeding Activity in Patients with Type 1 Gaucher Disease |
| المؤلفون: |
LoPiccolo, Mary Kate, Wang, Zerui, Eshed, Gadi Maayan, Fierro, Luca, Stauffer, Chanan, Wang, Kelly, Zhang, Jing, Tatsuoka, Curtis, Balwani, Manisha, Zou, Wen‐Quan, Alcalay, Roy N. |
| المساهمون: |
National Institutes of Health, Weston Brain Institute |
| المصدر: |
Movement Disorders ; ISSN 0885-3185 1531-8257 |
| بيانات النشر: |
Wiley |
| سنة النشر: |
2024 |
| المجموعة: |
Wiley Online Library (Open Access Articles via Crossref) |
| الوصف: |
Background Patients with type 1 Gaucher disease (GD1) have a significantly increased risk of developing Parkinson's disease (PD). Objective The objective of this study was to evaluate skin α‐synuclein (αSyn) seeding activity as a biomarker for GD1‐related PD (GD1‐PD). Methods This single‐center study administered motor and cognitive examinations and questionnaires of nonmotor symptoms to adult patients with GD1. Optional skin biopsy was performed for skin αSyn seed amplification assay (αSyn SAA) using real‐time quaking‐induced conversion assay. Results Forty‐nine patients were enrolled, and 36 underwent skin biopsy. Two study participants had PD. Ten participants were αSyn SAA positive (27.8%), 7 (19.4%) were intermediate, and 19 (52.8%) were negative. Positive αSyn seeding activity was observed in the single GD1‐PD case who consented to biopsy. αSyn SAA positivity was associated with older age ( p = 0.043), although αSyn SAA positivity was more prevalent in patients with GD1 than historic controls. Conclusions Longitudinal follow‐up is required to determine whether skin αSyn seeding activity can be an early biomarker for GD1‐PD. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| DOI: |
10.1002/mds.29935 |
| الاتاحة: |
http://dx.doi.org/10.1002/mds.29935 |
| Rights: |
http://creativecommons.org/licenses/by-nc-nd/4.0/ |
| رقم الانضمام: |
edsbas.A54CE806 |
| قاعدة البيانات: |
BASE |