{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T10:26:42Z","timestamp":1789640802856,"version":"4.0.0"},"reference-count":27,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2024,7,18]],"date-time":"2024-07-18T00:00:00Z","timestamp":1721260800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NS109532"],"award-info":[{"award-number":["NS109532"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012479","name":"Weston Brain Institute","doi-asserted-by":"publisher","award":["NS112010"],"award-info":[{"award-number":["NS112010"]}],"id":[{"id":"10.13039\/100012479","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Patients with type 1 Gaucher disease (GD1) have a significantly increased risk of developing Parkinson's disease (PD).<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>The objective of this study was to evaluate skin \u03b1\u2010synuclein (\u03b1Syn) seeding activity as a biomarker for GD1\u2010related PD (GD1\u2010PD).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This single\u2010center study administered motor and cognitive examinations and questionnaires of nonmotor symptoms to adult patients with GD1. Optional skin biopsy was performed for skin \u03b1Syn seed amplification assay (\u03b1Syn SAA) using real\u2010time quaking\u2010induced conversion assay.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Forty\u2010nine patients were enrolled, and 36 underwent skin biopsy. Two study participants had PD. Ten participants were \u03b1Syn SAA positive (27.8%), 7 (19.4%) were intermediate, and 19 (52.8%) were negative. Positive \u03b1Syn seeding activity was observed in the single GD1\u2010PD case who consented to biopsy. \u03b1Syn SAA positivity was associated with older age (<jats:italic>p<\/jats:italic>\u2009=\u20090.043), although \u03b1Syn SAA positivity was more prevalent in patients with GD1 than historic controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Longitudinal follow\u2010up is required to determine whether skin \u03b1Syn seeding activity can be an early biomarker for GD1\u2010PD. \u00a9 2024 The Author(s). <jats:italic>Movement Disorders<\/jats:italic> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.29935","type":"journal-article","created":{"date-parts":[[2024,7,18]],"date-time":"2024-07-18T03:08:39Z","timestamp":1721272119000},"page":"2087-2091","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Skin \u03b1\u2010Synuclein Seeding Activity in Patients with Type 1 Gaucher Disease"],"prefix":"10.1002","volume":"39","author":[{"given":"Mary Kate","family":"LoPiccolo","sequence":"first","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zerui","family":"Wang","sequence":"additional","affiliation":[{"name":"Departments of Pathology and Neurology Case Western Reserve University School of Medicine  Cleveland Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gadi Maayan","family":"Eshed","sequence":"additional","affiliation":[{"name":"Movement Disorders Division Neurological Institute, Tel\u2010Aviv Medical Center  Tel\u2010Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Fierro","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chanan","family":"Stauffer","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Population and Quantitative Health Sciences Case Western Reserve University School of Medicine  Cleveland Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Curtis","family":"Tatsuoka","sequence":"additional","affiliation":[{"name":"Department of Medicine University of Pittsburgh  Pittsburgh Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manisha","family":"Balwani","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen\u2010Quan","family":"Zou","sequence":"additional","affiliation":[{"name":"Departments of Pathology and Neurology Case Western Reserve University School of Medicine  Cleveland Ohio USA"},{"name":"Institute of Neurology, Jiangxi Academy of Clinical Medical Sciences, Department of Neurology, The First Affiliated Hospital, Jiangxi Medical College Nanchang University  Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roy N.","family":"Alcalay","sequence":"additional","affiliation":[{"name":"Movement Disorders Division Neurological Institute, Tel\u2010Aviv Medical Center  Tel\u2010Aviv Israel"},{"name":"Department of Neurology Columbia University Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,7,18]]},"reference":[{"key":"e_1_2_9_2_1","volume-title":"GeneReviews\u00ae","author":"Hughes 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