{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,2]],"date-time":"2026-08-02T22:05:54Z","timestamp":1785708354011,"version":"3.56.0"},"reference-count":159,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2019,12,4]],"date-time":"2019-12-04T00:00:00Z","timestamp":1575417600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Genetic early-onset parkinsonism presenting from infancy to adolescence (\u226421 years old) is a clinically diverse syndrome often combined with other hyperkinetic movement disorders, neurological and imaging abnormalities. The syndrome is genetically heterogeneous, with many causative genes already known. With the increased use of next-generation sequencing in clinical practice, there have been novel and unexpected insights into phenotype-genotype correlations and the discovery of new disease-causing genes. It is now recognized that mutations in a single gene can give rise to a broad phenotypic spectrum and that, conversely different genetic disorders can manifest with a similar phenotype. Accurate phenotypic characterization remains an essential step in interpreting genetic findings in undiagnosed patients. However, in the past decade, there has been a marked expansion in knowledge about the number of both disease-causing genes and phenotypic spectrum of early-onset cases. Detailed knowledge of genetic disorders and their clinical expression is required for rational planning of genetic and molecular testing, as well as correct interpretation of next-generation sequencing results. In this review we examine the relevant literature of genetic parkinsonism with \u226421 years onset, extracting data on associated movement disorders as well as other neurological and imaging features, to delineate syndromic patterns associated with early-onset parkinsonism. Excluding PRKN (parkin) mutations, &amp;gt;90% of the presenting phenotypes have a complex or atypical presentation, with dystonia, abnormal cognition, pyramidal signs, neuropsychiatric disorders, abnormal imaging and abnormal eye movements being the most common features. Furthermore, several imaging features and extraneurological manifestations are relatively specific for certain disorders and are important diagnostic clues. From the currently available literature, the most commonly implicated causes of early-onset parkinsonism have been elucidated but diagnosis is still challenging in many cases. Mutations in \u223c70 different genes have been associated with early-onset parkinsonism or may feature parkinsonism as part of their phenotypic spectrum. Most of the cases are caused by recessively inherited mutations, followed by dominant and X-linked mutations, and rarely by mitochondrially inherited mutations. In infantile-onset parkinsonism, the phenotype of hypokinetic-rigid syndrome is most commonly caused by disorders of monoamine synthesis. In childhood and juvenile-onset cases, common genotypes include PRKN, HTT, ATP13A2, ATP1A3, FBX07, PINK1 and PLA2G6 mutations. Moreover, Wilson\u2019s disease and mutations in the manganese transporter are potentially treatable conditions and should always be considered in the differential diagnosis in any patient with early-onset parkinsonism.<\/jats:p>","DOI":"10.1093\/brain\/awz345","type":"journal-article","created":{"date-parts":[[2019,10,17]],"date-time":"2019-10-17T11:09:55Z","timestamp":1571310595000},"page":"751-770","source":"Crossref","is-referenced-by-count":37,"title":["Clinical and neuroimaging phenotypes of genetic parkinsonism from infancy to adolescence"],"prefix":"10.1093","volume":"143","author":[{"given":"Hugo","family":"Morales-Brice\u00f1o","sequence":"first","affiliation":[{"name":"Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, NSW 2145, Australia"},{"name":"Sydney Medical School, University of Sydney, Sydney, NSW 2145, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shekeeb S","family":"Mohammad","sequence":"first","affiliation":[{"name":"Neurology Department, Children\u2019s Westmead Hospital, Faculty of Medicine and Health, University of Sydney, Westmead, NSW 2145, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart","family":"Post","sequence":"first","affiliation":[{"name":"Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Department of Neurology, Parkinson Centre Nijmegen (ParC) Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro F","family":"Fois","sequence":"first","affiliation":[{"name":"Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, NSW 2145, Australia"},{"name":"Sydney Medical School, University of Sydney, Sydney, NSW 2145, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Russell C","family":"Dale","sequence":"first","affiliation":[{"name":"Neurology Department, Children\u2019s Westmead Hospital, Faculty of Medicine and Health, University of Sydney, Westmead, NSW 2145, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Tchan","sequence":"first","affiliation":[{"name":"Sydney Medical School, University of Sydney, Sydney, NSW 2145, Australia"},{"name":"Department of Genetic Medicine, Westmead Hospital, Westmead, NSW 2145, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor S C","family":"Fung","sequence":"first","affiliation":[{"name":"Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, NSW 2145, Australia"},{"name":"Sydney Medical School, University of Sydney, Sydney, NSW 2145, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2019,12,4]]},"reference":[{"key":"2020032410474901100_awz345-B1","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1002\/mdc3.12353","article-title":"Exome sequencing identifies a novel homozygous missense ATP13A2 mutation","volume":"4","author":"Abbas","year":"2017","journal-title":"Mov Disord Clin Pract"},{"key":"2020032410474901100_awz345-B2","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1038\/nrneurol.2009.196","article-title":"The clinical approach to movement disorders","volume":"6","author":"Abdo","year":"2010","journal-title":"Nat Rev Neurol"},{"key":"2020032410474901100_awz345-B3","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.pediatrneurol.2015.06.005","article-title":"Early-onset parkinsonism: case report and review of the literature","volume":"67","author":"Al-Rumayyan","year":"2017","journal-title":"Pediatr Neurol"},{"key":"2020032410474901100_awz345-B4","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1016\/j.seizure.2018.06.010","article-title":"The adult motor phenotype of Dravet syndrome is associated with mutation of the STXBP1 gene and responds well to cannabidiol treatment","volume":"60","author":"Alvarez Bravo","year":"2018","journal-title":"Seizure"},{"key":"2020032410474901100_awz345-B5","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1007\/s00415-009-0083-3","article-title":"SPG11 spastic paraplegia. 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