{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:49:22Z","timestamp":1787028562190,"version":"build-2736575974"},"reference-count":22,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2025,5,30]],"date-time":"2025-05-30T00:00:00Z","timestamp":1748563200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"AbbVie Biopharmaceuticals Inc"},{"name":"Medison Pharma"},{"name":"Alphamedix"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Parkinson\u2019s disease (PD) associated with GBA1 mutations\u2014recently termed Sidransky syndrome\u2014differs from idiopathic PD (iPD) by earlier onset, more rapid progression, and higher rates of non-motor symptoms. Our objective was to assess whether GBA1 mutations contribute to olfactory dysfunction in PD and in asymptomatic carriers of the mutation. We compared olfactory and motor functions in 119 participants: Sidransky syndrome (n = 18), iPD (n = 30), GBA1 variant carriers without PD (n = 21), Gaucher disease patients (n = 20), and healthy controls (n = 30). All were evaluated with the Brief Smell Identification Test (BSIT\u00ae) and the motor part of the Movement Disorders Society Unified PD Rating Scale (MDS-mUPDRS). Mean age was 59.2 \u00b1 11.7 years. Mean disease duration was 2.5 \u00b1 2.2 years in Sidransky syndrome and 5.4 \u00b1 4.9 years in iPD. We found that both PD groups had significantly lower BSIT\u00ae scores than non-PD groups (p &lt; 0.001), particularly for leather, smoke, natural gas, pineapple, clove, rose, and lemon. Sidransky syndrome patients scored lower than iPD patients (p = 0.04). No significant olfactory deficits were observed in GBA1 carriers or Gaucher patients without PD. We conclude that hyposmia is more pronounced in Sidransky syndrome than in iPD. However, normal olfaction in non-parkinsonian GBA1 carriers suggests that GBA1 variants alone do not account for olfactory loss in PD. Hyposmia likely reflects broader PD pathology rather than a direct effect of the GBA1 mutation.<\/jats:p>","DOI":"10.3390\/ijms26115258","type":"journal-article","created":{"date-parts":[[2025,5,30]],"date-time":"2025-05-30T06:14:27Z","timestamp":1748585667000},"page":"5258","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Olfactory Perception in Parkinson\u2019s Disease: The Impact of GBA1 Variants (Sidransky Syndrome)"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0267-2658","authenticated-orcid":false,"given":"Mikhal E.","family":"Cohen","sequence":"first","affiliation":[{"name":"Department of Neurology, The Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem 9103102, Israel"},{"name":"The Movement Disorders Unit, The Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem 9103102, Israel"},{"name":"Faculty of Medicine, Hebrew University, Jerusalem 9112102, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yosef","family":"Shechter","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem 9103102, Israel"},{"name":"The Movement Disorders Unit, The Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem 9103102, Israel"},{"name":"Faculty of Medicine, Hebrew University, Jerusalem 9112102, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melania","family":"Dominko","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem 9103102, Israel"},{"name":"Faculty of Medicine, Hebrew University, Jerusalem 9112102, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-2088-0422","authenticated-orcid":false,"given":"Elena","family":"Shulman","sequence":"additional","affiliation":[{"name":"Gaucher Unit, The Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem 9103102, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tama","family":"Dinur","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Hebrew University, Jerusalem 9112102, Israel"},{"name":"Gaucher Unit, The Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem 9103102, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9151-0337","authenticated-orcid":false,"given":"Shoshana","family":"Revel-Vilk","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Hebrew University, Jerusalem 9112102, Israel"},{"name":"Gaucher Unit, The Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem 9103102, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roni","family":"Eichel","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem 9103102, Israel"},{"name":"Faculty of Medicine, Hebrew University, Jerusalem 9112102, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilad","family":"Yahalom","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem 9103102, Israel"},{"name":"The Movement Disorders Unit, The Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem 9103102, Israel"},{"name":"Faculty of Medicine, Hebrew University, Jerusalem 9112102, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michal","family":"Becker-Cohen","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Hebrew University, Jerusalem 9112102, Israel"},{"name":"Gaucher Unit, The Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem 9103102, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,5,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"661","DOI":"10.2217\/bmm.10.95","article-title":"Olfaction as a Biomarker in Parkinson\u2019s Disease","volume":"4","author":"Morley","year":"2010","journal-title":"Biomark. 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