Skin α‐Synuclein Seeding Activity in Patients with Type 1 Gaucher Disease-Reference-Cited by-同舟云学术

Skin α‐Synuclein Seeding Activity in Patients with Type 1 Gaucher Disease

Published:2024-07-18 Issue: Volume: Page:
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Movement Disorders

Author:

LoPiccolo Mary Kate¹,Wang Zerui²,Eshed Gadi Maayan³,Fierro Luca¹,Stauffer Chanan¹,Wang Kelly¹,Zhang Jing⁴,Tatsuoka Curtis⁵,Balwani Manisha¹,Zou Wen‐Quan²⁶,Alcalay Roy N.³⁷

Affiliation:

1. Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York New York USA

2. Departments of Pathology and Neurology Case Western Reserve University School of Medicine Cleveland Ohio USA

3. Movement Disorders Division Neurological Institute, Tel‐Aviv Medical Center Tel‐Aviv Israel

4. Department of Population and Quantitative Health Sciences Case Western Reserve University School of Medicine Cleveland Ohio USA

5. Department of Medicine University of Pittsburgh Pittsburgh Pennsylvania USA

6. Institute of Neurology, Jiangxi Academy of Clinical Medical Sciences, Department of Neurology, The First Affiliated Hospital, Jiangxi Medical College Nanchang University Nanchang China

7. Department of Neurology Columbia University Medical Center New York New York USA

Abstract

AbstractBackgroundPatients with type 1 Gaucher disease (GD1) have a significantly increased risk of developing Parkinson's disease (PD).ObjectiveThe objective of this study was to evaluate skin α‐synuclein (αSyn) seeding activity as a biomarker for GD1‐related PD (GD1‐PD).MethodsThis 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.ResultsForty‐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.ConclusionsLongitudinal 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.

Funder

National Institutes of Health

Weston Brain Institute

Publisher

Wiley

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