{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T01:16:25Z","timestamp":1777770985395,"version":"3.51.4"},"reference-count":12,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2025,9,2]],"date-time":"2025-09-02T00:00:00Z","timestamp":1756771200000},"content-version":"vor","delay-in-days":1,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82001446"],"award-info":[{"award-number":["82001446"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82303136"],"award-info":[{"award-number":["82303136"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Brain and Behavior"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      <jats:italic>PRKN<\/jats:italic>\n                      and\n                      <jats:italic>PINK1<\/jats:italic>\n                      gene mutations have been associated with Parkinson's disease (PD), particularly early\u2010onset PD (EOPD).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      To describe the clinical and molecular features of a Chinese patient with EOPD who had uncommon\n                      <jats:italic>PRKN<\/jats:italic>\n                      and\n                      <jats:italic>PINK1<\/jats:italic>\n                      mutations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      The patient's clinical history was reviewed, and whole\u2010exome sequencing was performed to identify genetic mutations. An in vitro mitochondrial stress model was created to study the impact of\n                      <jats:italic>PRKN<\/jats:italic>\n                      deletion on the PINK1\u2010PRKN pathway.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The patient exhibited a 27\u2010year history of tremors and other motor symptoms, with a notable response to levodopa and subthalamic nucleus deep brain stimulation (STN DBS). Genetic testing revealed an unusual double mutation of\n                      <jats:italic>PRKN\/PINK1<\/jats:italic>\n                      , while\n                      <jats:italic>PRKN<\/jats:italic>\n                      deletion blocked the activation of the PINK1\u2010PRKN pathway, disrupting the patient's mitophagy pathway.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      <jats:italic>PRKN\/PINK1<\/jats:italic>\n                      mutations may be linked to compromised mitophagy pathways. Genetic screening is significant for EOPD patients, especially those with specific symptoms and ethnic backgrounds.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/brb3.70822","type":"journal-article","created":{"date-parts":[[2025,9,3]],"date-time":"2025-09-03T10:38:45Z","timestamp":1756895925000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["<i>PRKN\/PINK1<\/i>\n                    Mutations in a Chinese Patient With Early\u2010Onset Parkinson's Disease"],"prefix":"10.1002","volume":"15","author":[{"given":"Zhongjiao","family":"Lu","sequence":"first","affiliation":[{"name":"Department of Neurology, Renji Hospital, School of Medicine Shanghai Jiao Tong University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ye","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Neurology, Renji Hospital, School of Medicine Shanghai Jiao Tong University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liemei","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Renji Hospital, School of Medicine Shanghai Jiao Tong University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mei","family":"Xin","sequence":"additional","affiliation":[{"name":"Department of Nuclear Medicine, Renji Hospital, School of Medicine Shanghai Jiao Tong University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yunlan","family":"Du","sequence":"additional","affiliation":[{"name":"Department of Neurology, Renji Hospital, School of Medicine Shanghai Jiao Tong University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruolian","family":"Dai","sequence":"additional","affiliation":[{"name":"Department of Neurology, Renji Hospital, School of Medicine Shanghai Jiao Tong University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gang","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology, Renji Hospital, School of Medicine Shanghai Jiao Tong University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hualong","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Renji Hospital, School of Medicine Shanghai Jiao Tong University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gang","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Renji Hospital, School of Medicine Shanghai Jiao Tong University  Shanghai 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