{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T09:37:42Z","timestamp":1790933862798,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2025,4,4]],"date-time":"2025-04-04T00:00:00Z","timestamp":1743724800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Mutations in progranulin (\n                      <jats:italic>GRN<\/jats:italic>\n                      ) are associated with frontotemporal dementia, although a Parkinson disease (PD) phenotype is uncommon, especially in young patients.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Cases<\/jats:title>\n                    <jats:p>\n                      We report three subjects from the PADUA\u2010CESNE cohort, meeting diagnostic criteria for PD, with onset under age 55. All had good response to dopaminergic therapy, abnormal dopamine transporter single\u2010photon emission computed tomography striatal uptake and a disease course consistent with PD, without clear atypical features, behavioral, or cognitive deficits. Genetic testing (next\u2010generation sequencing [NGS] panel) revealed three different variants in\n                      <jats:italic>GRN<\/jats:italic>\n                      gene. Skin biopsy immunohistochemistry analysis showed phosphorylated \u03b1\u2010synuclein deposition in two and was negative in one subject.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Our findings expand the phenotypic spectrum of\n                      <jats:italic>GRN<\/jats:italic>\n                      mutations, showing that patients can present with clinical manifestations of PD, including phosphorylated synuclein pathology in the skin, with a relatively young age of onset. Our observations support the use of broad\u2010spectrum NGS panels to properly guide patients in counseling and accurately allocate them to disease\u2010modifying therapies.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mdc3.70064","type":"journal-article","created":{"date-parts":[[2025,4,4]],"date-time":"2025-04-04T07:37:22Z","timestamp":1743752242000},"page":"998-1002","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Progranulin Mutation Manifesting as Parkinson Disease: A Case Series from the\n                    <scp>PADUA<\/scp>\n                    \u2010\n                    <scp>CESNE<\/scp>\n                    Cohort"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-2581-8751","authenticated-orcid":false,"given":"Giulia","family":"Bonato","sequence":"first","affiliation":[{"name":"Parkinson and Movement Disorders Unit, Center for Rare Neurological Diseases (ERN\u2010RND), Department of Neuroscience University of Padova  Padova Italy"},{"name":"Center for Neurodegenerative Disease Research (CESNE) University of Padova  Padova Italy"},{"name":"Padova Neuroscience Center (PNC) University of Padova  Padova Italy"},{"name":"Department of Neuroscience, Neurology University of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6394-7168","authenticated-orcid":false,"given":"Marta","family":"Campagnolo","sequence":"additional","affiliation":[{"name":"Parkinson and Movement Disorders Unit, Center for Rare Neurological Diseases (ERN\u2010RND), Department of Neuroscience University of Padova  Padova Italy"},{"name":"Center for Neurodegenerative Disease Research (CESNE) University of Padova  Padova Italy"},{"name":"Department of Neuroscience, Neurology University of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2796-5676","authenticated-orcid":false,"given":"Aron","family":"Emmi","sequence":"additional","affiliation":[{"name":"Center for Neurodegenerative Disease Research (CESNE) University of Padova  Padova Italy"},{"name":"Institute of Human Anatomy University of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Misenti","sequence":"additional","affiliation":[{"name":"Parkinson and Movement Disorders Unit, Center for Rare Neurological Diseases (ERN\u2010RND), Department of Neuroscience University of Padova  Padova Italy"},{"name":"Center for Neurodegenerative Disease Research (CESNE) University of Padova  Padova Italy"},{"name":"Department of Neuroscience, Neurology University of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4695-9391","authenticated-orcid":false,"given":"Tommaso","family":"Carrer","sequence":"additional","affiliation":[{"name":"Parkinson and Movement Disorders Unit, Center for Rare Neurological Diseases (ERN\u2010RND), Department of Neuroscience University of Padova  Padova Italy"},{"name":"Department of Neuroscience, Neurology University of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmelo","family":"Fogliano","sequence":"additional","affiliation":[{"name":"Parkinson and Movement Disorders Unit, Center for Rare Neurological Diseases (ERN\u2010RND), Department of Neuroscience University of Padova  Padova Italy"},{"name":"Department of Neuroscience, Neurology University of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonardo","family":"Salviati","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Department of Women and Children's Health University of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miryam","family":"Carecchio","sequence":"additional","affiliation":[{"name":"Parkinson and Movement Disorders Unit, Center for Rare Neurological Diseases (ERN\u2010RND), Department of Neuroscience University of Padova  Padova Italy"},{"name":"Center for Neurodegenerative Disease Research (CESNE) University of Padova  Padova Italy"},{"name":"Padova Neuroscience Center (PNC) University of Padova  Padova Italy"},{"name":"Department of Neuroscience, Neurology University of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1040-2807","authenticated-orcid":false,"given":"Angelo","family":"Antonini","sequence":"additional","affiliation":[{"name":"Parkinson and Movement Disorders Unit, Center for Rare Neurological Diseases (ERN\u2010RND), Department of Neuroscience University of Padova  Padova Italy"},{"name":"Center for Neurodegenerative Disease Research (CESNE) University of Padova  Padova Italy"},{"name":"Padova Neuroscience Center (PNC) University of Padova  Padova Italy"},{"name":"Department of Neuroscience, Neurology University of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,4,4]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2010.212225"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000200860"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2020.09.019"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2023.120737"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-024-07690-7"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-023-07056-5"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-01587-6"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-024-45692-3"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tips.2021.11.015"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.13206"}],"container-title":["Movement 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Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.70064","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T10:29:19Z","timestamp":1760956159000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.70064"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,4]]},"references-count":10,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2025,7]]}},"alternative-id":["10.1002\/mdc3.70064"],"URL":"https:\/\/doi.org\/10.1002\/mdc3.70064","archive":["Portico"],"relation":{},"ISSN":["2330-1619","2330-1619"],"issn-type":[{"value":"2330-1619","type":"print"},{"value":"2330-1619","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,4]]},"assertion":[{"value":"2025-01-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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