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https://observatorio.fm.usp.br/handle/OPI/14071
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DC Field | Value | Language |
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dc.contributor | Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP | - |
dc.contributor.author | OLGIATI, Simone | - |
dc.contributor.author | QUADRI, Marialuisa | - |
dc.contributor.author | FANG, Mingyan | - |
dc.contributor.author | ROOD, Janneke P. M. A. | - |
dc.contributor.author | SAUTE, Jonas A. | - |
dc.contributor.author | CHIEN, Hsin Fen | - |
dc.contributor.author | BOUWKAMP, Christian G. | - |
dc.contributor.author | GRAAFLAND, Josja | - |
dc.contributor.author | MINNEBOO, Michelle | - |
dc.contributor.author | BREEDVELD, Guido J. | - |
dc.contributor.author | ZHANG, Jianguo | - |
dc.contributor.author | VERHEIJEN, Frans W. | - |
dc.contributor.author | BOON, Agnita J. W. | - |
dc.contributor.author | KIEVIT, Anneke J. A. | - |
dc.contributor.author | JARDIM, Laura Bannach | - |
dc.contributor.author | MANDEMAKERS, Wim | - |
dc.contributor.author | BARBOSA, Egberto Reis | - |
dc.contributor.author | RIEDER, Carlos R. M. | - |
dc.contributor.author | LEENDERS, Klaus L. | - |
dc.contributor.author | WANG, Jun | - |
dc.contributor.author | BONIFATI, Vincenzo | - |
dc.date.accessioned | 2016-07-04T14:05:48Z | - |
dc.date.available | 2016-07-04T14:05:48Z | - |
dc.date.issued | 2016 | - |
dc.identifier.citation | ANNALS OF NEUROLOGY, v.79, n.2, p.244-256, 2016 | - |
dc.identifier.issn | 0364-5134 | - |
dc.identifier.uri | https://observatorio.fm.usp.br/handle/OPI/14071 | - |
dc.description.abstract | ObjectiveDNAJC6 mutations were recently described in two families with autosomal recessive juvenile parkinsonism (onset age<11), prominent atypical signs, poor or absent response to levodopa, and rapid progression (wheelchair-bound within approximate to 10 years from onset). Here, for the first time, we report DNAJC6 mutations in early-onset Parkinson's disease (PD). MethodsThe DNAJC6 open reading frame was analyzed in 274 patients with early-onset sporadic or familial PD. Selected variants were followed up by cosegregation, homozygosity mapping, linkage analysis, whole-exome sequencing, and protein studies. ResultsWe identified two families with different novel homozygous DNAJC6 mutations segregating with PD. In each family, the DNAJC6 mutation was flanked by long runs of homozygosity within highest linkage peaks. Exome sequencing did not detect additional pathogenic variants within the linkage regions. In both families, patients showed severely decreased steady-state levels of the auxilin protein in fibroblasts. We also identified a sporadic patient carrying two rare noncoding DNAJC6 variants possibly effecting RNA splicing. All these cases fulfilled the criteria for a clinical diagnosis of early-onset PD, had symptoms onset in the third-to-fifth decade, and slow disease progression. Response to dopaminergic therapies was prominent, but, in some patients, limited by psychiatric side effects. The phenotype overlaps that of other monogenic forms of early-onset PD. InterpretationOur findings delineate a novel form of hereditary early-onset PD. Screening of DNAJC6 is warranted in all patients with early-onset PD compatible with autosomal recessive inheritance. Our data provide further evidence for the involvement of synaptic vesicles endocytosis and trafficking in PD pathogenesis. Ann Neurol 2016;79:244-256 | - |
dc.description.sponsorship | Stichting ParkinsonFonds (The Netherlands) | - |
dc.description.sponsorship | Beijing Genomics Institute (BGI) | - |
dc.language.iso | eng | - |
dc.publisher | WILEY-BLACKWELL | - |
dc.relation.ispartof | Annals of Neurology | - |
dc.rights | restrictedAccess | - |
dc.subject.other | juvenile parkinsonism | - |
dc.subject.other | splicing signals | - |
dc.subject.other | endocytosis | - |
dc.subject.other | auxilin | - |
dc.subject.other | domain | - |
dc.subject.other | genes | - |
dc.subject.other | alignment | - |
dc.subject.other | binding | - |
dc.title | DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease | - |
dc.type | article | - |
dc.rights.holder | Copyright WILEY-BLACKWELL | - |
dc.contributor.groupauthor | Int Parkinsonism Genetics Network | - |
dc.identifier.doi | 10.1002/ana.24553 | - |
dc.identifier.pmid | 26528954 | - |
dc.subject.wos | Clinical Neurology | - |
dc.subject.wos | Neurosciences | - |
dc.type.category | original article | - |
dc.type.version | publishedVersion | - |
hcfmusp.author.external | OLGIATI, Simone:Erasmus MC, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, Netherlands | - |
hcfmusp.author.external | QUADRI, Marialuisa:Erasmus MC, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, Netherlands | - |
hcfmusp.author.external | FANG, Mingyan:BGI Shenzhen, Shenzhen 518083, Peoples R China | - |
hcfmusp.author.external | ROOD, Janneke P. M. A.:Erasmus MC, Dept Neurol, Rotterdam, Netherlands | - |
hcfmusp.author.external | SAUTE, Jonas A.:Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, Brazil | - |
hcfmusp.author.external | BOUWKAMP, Christian G.:Erasmus MC, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, Netherlands; Erasmus MC, Dept Psychiat, Rotterdam, Netherlands | - |
hcfmusp.author.external | GRAAFLAND, Josja:Erasmus MC, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, Netherlands | - |
hcfmusp.author.external | MINNEBOO, Michelle:Erasmus MC, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, Netherlands | - |
hcfmusp.author.external | BREEDVELD, Guido J.:Erasmus MC, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, Netherlands | - |
hcfmusp.author.external | ZHANG, Jianguo:BGI Shenzhen, Shenzhen 518083, Peoples R China | - |
hcfmusp.author.external | VERHEIJEN, Frans W.:Erasmus MC, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, Netherlands | - |
hcfmusp.author.external | BOON, Agnita J. W.:Erasmus MC, Dept Neurol, Rotterdam, Netherlands | - |
hcfmusp.author.external | KIEVIT, Anneke J. A.:Erasmus MC, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, Netherlands | - |
hcfmusp.author.external | JARDIM, Laura Bannach:Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS, Brazil; Univ Fed Rio Grande do Sul, Dept Internal Med, Porto Alegre, RS, Brazil | - |
hcfmusp.author.external | MANDEMAKERS, Wim:Erasmus MC, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, Netherlands | - |
hcfmusp.author.external | RIEDER, Carlos R. M.:Hosp Clin Porto Alegre, Neurol Serv, Porto Alegre, RS, Brazil | - |
hcfmusp.author.external | LEENDERS, Klaus L.:Univ Groningen, Univ Med Ctr Groningen, Dept Neurol, NL-9713 AV Groningen, Netherlands | - |
hcfmusp.author.external | WANG, Jun:BGI Shenzhen, Shenzhen 518083, Peoples R China; Univ Copenhagen, Dept Biol, Copenhagen, Denmark; King Abdulaziz Univ, Princess Al Jawhara Ctr Excellence Res Hereditary, Jeddah 21413, Saudi Arabia; Macau Univ Sci & Technol, Macau, Peoples R China | - |
hcfmusp.author.external | BONIFATI, Vincenzo:Erasmus MC, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, Netherlands | - |
hcfmusp.description.beginpage | 244 | - |
hcfmusp.description.endpage | 256 | - |
hcfmusp.description.issue | 2 | - |
hcfmusp.description.volume | 79 | - |
hcfmusp.origem | WOS | - |
hcfmusp.origem.id | WOS:000370643100010 | - |
hcfmusp.origem.id | 2-s2.0-84958106531 | - |
hcfmusp.publisher.city | HOBOKEN | - |
hcfmusp.publisher.country | USA | - |
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dc.description.index | MEDLINE | - |
dc.identifier.eissn | 1531-8249 | - |
hcfmusp.citation.scopus | 128 | - |
hcfmusp.scopus.lastupdate | 2024-04-12 | - |
Appears in Collections: | Artigos e Materiais de Revistas Científicas - HC/ICHC Artigos e Materiais de Revistas Científicas - HC/Outros Artigos e Materiais de Revistas Científicas - LIM/45 |
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