{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T17:03:37Z","timestamp":1789837417956,"version":"4.0.1"},"reference-count":20,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2025,1,26]],"date-time":"2025-01-26T00:00:00Z","timestamp":1737849600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"publisher","award":["GR-2021-12372019"],"award-info":[{"award-number":["GR-2021-12372019"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"publisher","award":["PNRR-MAD-2022-12376035"],"award-info":[{"award-number":["PNRR-MAD-2022-12376035"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"publisher","award":["RF-2021-12375222"],"award-info":[{"award-number":["RF-2021-12375222"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,4,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The EIF4G1 gene has been considered an autosomal dominant cause of Parkinson disease (PD), even if its role is still debated. The objective of this study was to describe the phenotype and \u03b1-synuclein distribution in peripheral tissues in 2 related PD patients (mother and daughter), who are carriers of the same variant in exon 10 of EIF4G1 (c.1216G&amp;gt;A, p.Gly406Arg). We used the Burghart Sniffin Sticks test for olfactory function. \u03b1-Synuclein distribution in the olfactory mucosa and skin samples was analyzed using RT-QuIC, double immunofluorescence, and immunohistochemical staining. Both patients presented with a mild motor syndrome associated with hyposmia as prominent traits; pathological \u03b1-synuclein deposits were found in the olfactory mucosa but not in the skin. The phenotype and the findings in peripheral tissues suggest that PARK18 could manifest as a \u201cbenign\u201d form of PD associated with hyposmia, with a slow progression and sparse \u03b1-synuclein accumulation in the peripheral nervous system.<\/jats:p>","DOI":"10.1093\/jnen\/nlaf001","type":"journal-article","created":{"date-parts":[[2025,1,26]],"date-time":"2025-01-26T23:05:51Z","timestamp":1737932751000},"page":"286-292","source":"Crossref","is-referenced-by-count":2,"title":["\u03b1-Synuclein distribution in olfactory mucosa and skin nerves in Parkinson disease associated with an <i>EIF4G1<\/i> gene mutation"],"prefix":"10.1093","volume":"84","author":[{"given":"Arianna","family":"Braccia","sequence":"first","affiliation":[{"name":"Department of Clinical Neurosciences, Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta , Milan,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5917-7578","authenticated-orcid":false,"given":"Antonio Emanuele","family":"Elia","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta , Milan,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grazia","family":"Devigili","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta , Milan,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaella","family":"Lombardi","sequence":"additional","affiliation":[{"name":"Neuroalgology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta , 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Milan,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Colangelo","sequence":"additional","affiliation":[{"name":"Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta , Milan,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Suerz","sequence":"additional","affiliation":[{"name":"Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta , Milan,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara Maria","family":"Portaleone","sequence":"additional","affiliation":[{"name":"Department of Health Sciences, Otolaryngology Unit, San Paolo Hospital, Universit\u00e0 degli Studi di Milano , Milan,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna Maria","family":"Perilli","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta , Milan,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara Maria Giulia","family":"De Luca","sequence":"additional","affiliation":[{"name":"Unit of Neurology 5 and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta , Milan,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arianna","family":"Ciullini","sequence":"additional","affiliation":[{"name":"Unit of Neurology 5 and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta , Milan,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria Linda","family":"Dellarole","sequence":"additional","affiliation":[{"name":"Unit of Neurology 5 and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta , Milan,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Telese","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta , Milan,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Garavaglia","sequence":"additional","affiliation":[{"name":"Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta , Milan,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2820-9880","authenticated-orcid":false,"given":"Fabio","family":"Moda","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta , 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