{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T07:14:02Z","timestamp":1790320442562,"version":"4.1.0"},"reference-count":42,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T00:00:00Z","timestamp":1760659200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T00:00:00Z","timestamp":1760659200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      The\n                      <jats:italic>RAB32<\/jats:italic>\n                      p.Ser71Arg variant is a novel cause of monogenic Parkinson's disease (PD), for which detailed phenotypic information is currently scarce.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      Our aim was to clinically and biologically characterize individuals with PARK\u2010\n                      <jats:italic>RAB32<\/jats:italic>\n                      to gain insights into genotype\u2013phenotype relationships, disease severity, and underlying pathology.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We conducted a literature review following the MDSGene protocol, alongside detailed phenotyping of 11 PARK\u2010\n                      <jats:italic>RAB32<\/jats:italic>\n                      patients and one prodromal individual from the Rostock International PD (ROPAD) study. In addition to comprehensive scale\u2010based assessments, including olfactory testing, we obtained neuroimaging data and various biomaterials, and performed \u03b1\u2010synuclein seeding assays (SAA) in cerebrospinal fluid in a subset.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>83 patients (72 from the literature) were included in the analysis. The median age at onset was 54 (IQR: 46\u201361) years. Typical parkinsonism with a favorable dopaminergic response was observed in all patients.<\/jats:p>\n                    <jats:p>In our cohort, after a median disease duration of 11\u2009years (IQR: 7\u201319.5), the mean Movement Disorders Society Modified Unified Parkinson's Disease Rating Scale (MDS\u2010UPDRS) III score was 38.5\u2009\u00b1\u200921.8 points. Targeted testing revealed autonomic symptoms were present in all individuals, and 10 of 11 patients had hyposmia. Misfolded \u03b1\u2010synuclein was identified in 2 of 2 patients, but not in the prodromal individual. 123I\u2010FP\u2010CIT imaging was available for eight patients, revealing neurodegeneration in all of them.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      While PARK\u2010\n                      <jats:italic>RAB32<\/jats:italic>\n                      is clinically and likely pathologically similar to idiopathic PD, our study underscores the importance of carefully assessing non\u2010motor symptoms in this newly described form of PD. According to SynNeurGe criteria, PARK\u2010\n                      <jats:italic>RAB32<\/jats:italic>\n                      is classified as\n                      <jats:bold>S<\/jats:bold>\n                      <jats:sup>+<\/jats:sup>\n                      (evidence of synucleinopathy),\n                      <jats:bold>N<\/jats:bold>\n                      <jats:sup>+<\/jats:sup>\n                      (neurodegeneration supported by imaging data), and\n                      <jats:bold>G<\/jats:bold>\n                      <jats:sub>P<\/jats:sub>\n                      <jats:sup>+<\/jats:sup>\n                      (presence of a genetic variant). \u00a9 2025 The Author(s).\n                      <jats:italic>Movement Disorders<\/jats:italic>\n                      published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mds.70037","type":"journal-article","created":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T07:25:53Z","timestamp":1760685953000},"page":"2746-2769","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["<scp>\n                      <i>RAB32<\/i>\n                    <\/scp>\n                    \u2010Linked Parkinson's Disease: Deep Phenotyping,\n                    <scp>MDSGene<\/scp>\n                    Literature Review, and Application of\n                    <scp>SynNeurGe<\/scp>\n                    Criteria"],"prefix":"10.1002","volume":"40","author":[{"given":"Teresa","family":"Kleinz","sequence":"first","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck  L\u00fcbeck Germany"},{"name":"Section for Movement Disorders, Department of Neurology University Hospital of Schleswig\u2010Holstein  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5836-1982","authenticated-orcid":false,"given":"Francesco","family":"Cavallieri","sequence":"additional","affiliation":[{"name":"Neuromotor and Rehabilitation Department, Neurology Unit Azienda USL\u2010IRCCS Di Reggio Emilia  Reggio Emilia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Max","family":"Borsche","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck  L\u00fcbeck Germany"},{"name":"Section for Movement Disorders, Department of Neurology University Hospital of Schleswig\u2010Holstein  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Toschi","sequence":"additional","affiliation":[{"name":"Neuromotor and Rehabilitation Department, Neurology Unit Azienda USL\u2010IRCCS Di Reggio Emilia  Reggio Emilia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franco","family":"Valzania","sequence":"additional","affiliation":[{"name":"Neuromotor and Rehabilitation Department, Neurology Unit Azienda USL\u2010IRCCS Di Reggio Emilia  Reggio Emilia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Fioravanti","sequence":"additional","affiliation":[{"name":"Neuromotor and Rehabilitation Department, Neurology Unit Azienda USL\u2010IRCCS Di Reggio Emilia  Reggio Emilia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0600-6820","authenticated-orcid":false,"given":"Enza Maria","family":"Valente","sequence":"additional","affiliation":[{"name":"IRCCS C. 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