{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1362825895697969152.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.1002/mds.22947"}},{"identifier":{"@type":"URI","@value":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmds.22947"}},{"identifier":{"@type":"URI","@value":"https://movementdisorders.onlinelibrary.wiley.com/doi/pdf/10.1002/mds.22947"}}],"dc:title":[{"@value":"<i>ATP13A2</i> mutations (PARK9) cause neurodegeneration with brain iron accumulation"}],"description":[{"type":"abstract","notation":[{"@value":"<jats:title>Abstract</jats:title><jats:p>Kufor Rakeb disease (KRD, PARK9) is an autosomal recessive extrapyramidal‐pyramidal syndrome with generalized brain atrophy due to <jats:italic>ATP13A2</jats:italic> gene mutations. We report clinical details and investigational results focusing on radiological findings of a genetically‐proven KRD case. Clinically, there was early onset levodopa‐responsive dystonia‐parkinsonism with pyramidal signs and eye movement abnormalities. Brain MRI revealed generalized atrophy and putaminal and caudate iron accumulation bilaterally. Our findings add KRD to the group of syndromes of neurodegeneration with brain iron accumulation (NBIA). KRD should be considered in patients with dystonia‐parkinsonism with iron on brain imaging and we suggest classifying as NBIA type 3. © 2010 Movement Disorder Society</jats:p>"}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1382825895697969153","@type":"Researcher","foaf:name":[{"@value":"Susanne A. Schneider"}]},{"@id":"https://cir.nii.ac.jp/crid/1380298344648510848","@type":"Researcher","foaf:name":[{"@value":"Coro Paisan‐Ruiz"}]},{"@id":"https://cir.nii.ac.jp/crid/1382825895697969156","@type":"Researcher","foaf:name":[{"@value":"Niall P. Quinn"}]},{"@id":"https://cir.nii.ac.jp/crid/1382825895697969158","@type":"Researcher","foaf:name":[{"@value":"Andrew J. Lees"}]},{"@id":"https://cir.nii.ac.jp/crid/1382825895697969157","@type":"Researcher","foaf:name":[{"@value":"Henry Houlden"}]},{"@id":"https://cir.nii.ac.jp/crid/1382825895697969152","@type":"Researcher","foaf:name":[{"@value":"John Hardy"}]},{"@id":"https://cir.nii.ac.jp/crid/1382825895697969154","@type":"Researcher","foaf:name":[{"@value":"Kailash P. Bhatia"}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"08853185"},{"@type":"EISSN","@value":"15318257"}],"prism:publicationName":[{"@value":"Movement Disorders"}],"dc:publisher":[{"@value":"Wiley"}],"prism:publicationDate":"2010-06-09","prism:volume":"25","prism:number":"8","prism:startingPage":"979","prism:endingPage":"984"},"reviewed":"false","dc:rights":["http://onlinelibrary.wiley.com/termsAndConditions#vor"],"url":[{"@id":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmds.22947"},{"@id":"https://movementdisorders.onlinelibrary.wiley.com/doi/pdf/10.1002/mds.22947"}],"createdAt":"2010-03-22","modifiedAt":"2025-10-20","relatedProduct":[{"@id":"https://cir.nii.ac.jp/crid/1360290617445975552","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Identification of a novel mutation in\n            <i>ATP13A2</i>\n            associated with a complicated form of hereditary spastic paraplegia"}]}],"dataSourceIdentifier":[{"@type":"CROSSREF","@value":"10.1002/mds.22947"},{"@type":"CROSSREF","@value":"10.1212/nxg.0000000000000514_references_DOI_EnpDfaS6rQLRMKRVgzeLdrWSYC0"}]}