{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T02:17:09Z","timestamp":1783477029509,"version":"3.55.0"},"reference-count":20,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T00:00:00Z","timestamp":1783382400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T00:00:00Z","timestamp":1783382400000},"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 Disord Clin Pract"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Biallelic variants in\n                      <jats:italic>DNAJC6<\/jats:italic>\n                      cause PARK\u2010\n                      <jats:italic>DNAJC6<\/jats:italic>\n                      (historically referred to as PARK19), a rare autosomal recessive juvenile\u2010onset dystonia\u2010parkinsonism syndrome. Neurodevelopmental delay or regression, epilepsy, movement disorders, and psychiatric symptoms are also present. Progression is fast with frequent bulbar, gastrointestinal involvement and early loss of ambulation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Cases<\/jats:title>\n                    <jats:p>\n                      We report two siblings (17 and 14\u2009years) harboring a novel homozygous nonsense variant in\n                      <jats:italic>DNAJC6<\/jats:italic>\n                      , p.Cys325*, not previously described in the medical literature and absent from population databases. The variant is predicted to truncate the protein, supporting a loss\u2010of\u2010function mechanism consistent with the gene's disease biology. Both patients exhibited developmental regression, parkinsonism with dystonia, cognitive decline, dysphagia, and marked sialorrhea, with severe, accelerated functional deterioration. Levodopa produced only mild benefit; in the older sibling, dose escalation provoked an adverse reaction with sustained upgaze\/ophthalmoparesis, opisthotonus, and hypertension.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Literature review<\/jats:title>\n                    <jats:p>\n                      We found 23 previously reported\n                      <jats:italic>DNAJC6<\/jats:italic>\n                      patients, most with early\u2010onset parkinsonism with variable levodopa responsiveness, frequent developmental and psychiatric comorbidity, and prominent bulbar features.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      The novel\n                      <jats:italic>DNAJC6<\/jats:italic>\n                      p.Cys325* variant is associated with severe, early\u2010onset parkinsonism and developmental regression.\n                      <jats:italic>DNAJC6<\/jats:italic>\n                      should be considered in children and adolescents presenting with parkinsonism plus neurodevelopmental decline, particularly when levodopa benefit is modest, and dose\u2010related adverse motor crises occur.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mdc3.70731","type":"journal-article","created":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T01:47:54Z","timestamp":1783475274000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel Homozygous Pathogenic Variant in\n                    <scp>\n                      <i>DNAJC6<\/i>\n                    <\/scp>\n                    Causes Rapid Progressive Parkinsonism"],"prefix":"10.1002","author":[{"given":"Andr\u00e9 Luiz Santos","family":"Pessoa","sequence":"first","affiliation":[{"name":"Hospital Infantil Albert Sabin  Fortaleza Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8460-6867","authenticated-orcid":false,"given":"Thiago Gon\u00e7alves","family":"Guimar\u00e3es","sequence":"additional","affiliation":[{"name":"Department of Neurology, Movement Disorders Center University of Sao Paulo  Sao Paulo Brazil"},{"name":"Department of Neurology, Neurogenetics Center University of S\u00e3o Paulo  Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7595-5878","authenticated-orcid":false,"given":"Diego","family":"de Castro dos Santos","sequence":"additional","affiliation":[{"name":"Department of Neurology, Neurogenetics Center University of S\u00e3o Paulo  Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renata Montes Garcia","family":"Barbosa","sequence":"additional","affiliation":[{"name":"Department of Neurology, Movement Disorders Center University of Sao Paulo  Sao Paulo Brazil"},{"name":"Department of Neurology, Neurogenetics Center University of S\u00e3o Paulo  Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen Mourao Soares","family":"Lopes","sequence":"additional","affiliation":[{"name":"Hospital Infantil Albert Sabin  Fortaleza Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7171-1406","authenticated-orcid":false,"given":"Claudio M.","family":"de Gusmao","sequence":"additional","affiliation":[{"name":"Department of Neurology Mass General Brigham, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8517-2324","authenticated-orcid":false,"given":"Pedro Lucas Grangeiro S\u00e1 Barreto","family":"Lima","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Clinical Medicine Universidade Federal do Cear\u00e1  Fortaleza Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0335-8799","authenticated-orcid":false,"given":"Matheus Augusto Ara\u00fajo","family":"Castro","sequence":"additional","affiliation":[{"name":"Department of Neurology, Neurogenetics Center University of S\u00e3o Paulo  Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Kok","sequence":"additional","affiliation":[{"name":"Department of Neurology, Neurogenetics Center University of S\u00e3o Paulo  Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulo Ribeiro","family":"Nobrega","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Clinical Medicine Universidade Federal do Cear\u00e1  Fortaleza 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