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

Mary Kate LoPiccolo; Zerui Wang; Gadi Maayan Eshed; Luca Fierro; Chanan Stauffer; Kelly Wang; Jing Zhang; Curtis Tatsuoka; Manisha Balwani; Wen Quan Zou; Roy N. Alcalay

doi:10.1002/mds.29935

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

Mary Kate LoPiccolo, Zerui Wang, Gadi Maayan Eshed, Luca Fierro, Chanan Stauffer, Kelly Wang, Jing Zhang, Curtis Tatsuoka, Manisha Balwani, Wen Quan Zou, Roy N. Alcalay

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	2087-2091
Number of pages	5
Journal	Movement Disorders
Volume	39
Issue number	11
DOIs	https://doi.org/10.1002/mds.29935
State	Published - Nov 2024

Keywords

Gaucher disease
Parkinson's disease
biomarkers
α-synuclein seed amplification assay
α-synuclein seeding activity

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title = "Skin α-Synuclein Seeding Activity in Patients with Type 1 Gaucher Disease",

abstract = "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.",

keywords = "Gaucher disease, Parkinson's disease, biomarkers, α-synuclein seed amplification assay, α-synuclein seeding activity",

author = "LoPiccolo, {Mary Kate} and Zerui Wang and Eshed, {Gadi Maayan} and Luca Fierro and Chanan Stauffer and Kelly Wang and Jing Zhang and Curtis Tatsuoka and Manisha Balwani and Zou, {Wen Quan} and Alcalay, {Roy N.}",

note = "Publisher Copyright: {\textcopyright} 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.",

year = "2024",

month = nov,

doi = "10.1002/mds.29935",

language = "English",

volume = "39",

pages = "2087--2091",

journal = "Movement Disorders",

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AU - LoPiccolo, Mary Kate

AU - Wang, Zerui

AU - Eshed, Gadi Maayan

AU - Fierro, Luca

AU - Stauffer, Chanan

AU - Wang, Kelly

AU - Zhang, Jing

AU - Tatsuoka, Curtis

AU - Balwani, Manisha

AU - Zou, Wen Quan

AU - Alcalay, Roy N.

PY - 2024/11

Y1 - 2024/11

N2 - 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.

AB - 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.

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KW - Parkinson's disease

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

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Keywords

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