{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T03:00:18Z","timestamp":1777950018025,"version":"3.51.4"},"reference-count":36,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T00:00:00Z","timestamp":1777852800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Hum. Neurosci."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Mutations in the\n                      <jats:italic>PLA2G6<\/jats:italic>\n                      gene cause a spectrum of neurodegenerative disorders, with autosomal recessive early-onset Parkinson\u2019s disease (AREP) and dystonia-parkinsonism (DP) representing the two primary subtypes of adult-onset PLA2G6-associated neurodegeneration (PLAN).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      We report a Chinese female patient with parkinsonism caused by compound heterozygous mutations in the\n                      <jats:italic>PLA2G6<\/jats:italic>\n                      gene. Both variants she carried\u2014c.313G\u202f&amp;gt;\u202fT (p. D105Y) and c.23\u202fT\u202f&amp;gt;\u202fA (p. V8D)\u2014are novel and have not been previously reported. The patient presented with prominent parkinsonism in the upper body that responded well to dopaminergic therapy, while the lower limbs exhibited combined dystonia and a scissoring gait with poor response to dopaminergic medication. Based on the distinctive features of our case and literature review, we suggest that the traditional AREP\/DP dichotomy may not fully capture the phenotypic complexity observed in\n                      <jats:italic>PLA2G6<\/jats:italic>\n                      -associated parkinsonism.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This case highlights the clinical heterogeneity of PLAN and expands its genotypic spectrum with two novel mutations, suggesting that\n                      <jats:italic>PLA2G6<\/jats:italic>\n                      -related disorders may present with overlapping features of AREP and DP within the same individual.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fnhum.2026.1772073","type":"journal-article","created":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T05:33:35Z","timestamp":1777872815000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Where is the boundary between autosomal recessive early-onset Parkinson\u2019s disease and dystonia-parkinsonism: a case of PLA2G6-associated neurodegeneration"],"prefix":"10.3389","volume":"20","author":[{"given":"Xiao-Tian","family":"Li","sequence":"first","affiliation":[{"name":"Department of Neurology and Institute of Geriatric Neurology, The Second Affiliated Hospital and Yuying Children\u2019s Hospital, Wenzhou Medical University","place":["Wenzhou, Zhejiang, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheng-Xiang","family":"Yuan","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Geriatric Neurology, The Second Affiliated Hospital and Yuying Children\u2019s Hospital, Wenzhou Medical University","place":["Wenzhou, Zhejiang, China"]},{"name":"Wenzhou Key Laboratory of Neurogenetics","place":["Wenzhou, Zhejiang, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhao-Qi","family":"Lv","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Geriatric Neurology, The Second Affiliated Hospital and Yuying Children\u2019s Hospital, Wenzhou Medical University","place":["Wenzhou, Zhejiang, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Geriatric Neurology, The Second Affiliated Hospital and Yuying Children\u2019s Hospital, Wenzhou Medical University","place":["Wenzhou, Zhejiang, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao-Jie","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Geriatric Neurology, The Second Affiliated Hospital and Yuying Children\u2019s Hospital, Wenzhou Medical University","place":["Wenzhou, Zhejiang, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meng-Qian","family":"Ye","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Geriatric Neurology, The Second Affiliated Hospital and Yuying Children\u2019s Hospital, Wenzhou Medical University","place":["Wenzhou, Zhejiang, China"]},{"name":"Wenzhou Key Laboratory of Neurogenetics","place":["Wenzhou, Zhejiang, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jia-Xin","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Geriatric Neurology, The Second Affiliated Hospital and Yuying Children\u2019s Hospital, Wenzhou Medical University","place":["Wenzhou, Zhejiang, China"]},{"name":"Wenzhou Key Laboratory of Neurogenetics","place":["Wenzhou, Zhejiang, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nuo","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Geriatric Neurology, The Second Affiliated Hospital and Yuying Children\u2019s Hospital, Wenzhou Medical University","place":["Wenzhou, Zhejiang, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Geriatric Neurology, The Second Affiliated Hospital and Yuying Children\u2019s Hospital, Wenzhou Medical University","place":["Wenzhou, Zhejiang, China"]},{"name":"Wenzhou Key Laboratory of Neurogenetics","place":["Wenzhou, Zhejiang, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiong","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Geriatric Neurology, The Second Affiliated Hospital and Yuying Children\u2019s Hospital, Wenzhou Medical University","place":["Wenzhou, Zhejiang, China"]},{"name":"Wenzhou Key Laboratory of Neurogenetics","place":["Wenzhou, Zhejiang, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jian-Yong","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology and Institute of Geriatric Neurology, The Second Affiliated Hospital and Yuying Children\u2019s Hospital, Wenzhou Medical University","place":["Wenzhou, Zhejiang, China"]},{"name":"Wenzhou Key Laboratory of Neurogenetics","place":["Wenzhou, Zhejiang, 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