A novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset Parkinsonism
Mutations in presenilin-1 (PSEN1) account for the majority of cases of familial autosomal dominant early-onset Alzheimer's disease (AD) as well as in sporadic forms. Atypical presentations are reported including extrapyramidal signs. In the last years, a pleiotropic effect of some PSEN1 variant...
- Autores:
-
Gatto, Emilia M
Rojas, Galeno J
Nemirovsky, Sergio I.
Da Prat, Gustavo
Persi, Gabriel
Cesarini, Martin
Etcheverry, Jose L
Gonzalez Rojas, Natalia
Parisi, Virginia
Cordoba, Marta
- Tipo de recurso:
- Article of journal
- Fecha de publicación:
- 2020
- Institución:
- Corporación Universidad de la Costa
- Repositorio:
- REDICUC - Repositorio CUC
- Idioma:
- eng
- OAI Identifier:
- oai:repositorio.cuc.edu.co:11323/7826
- Acceso en línea:
- https://hdl.handle.net/11323/7826
https://doi.org/10.1016/j.parkreldis.2020.06.005
https://repositorio.cuc.edu.co/
- Palabra clave:
- Parkinsonism
Presenilin
Genetics
PSEN1
- Rights
- openAccess
- License
- Attribution-NonCommercial-NoDerivatives 4.0 International
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dc.title.spa.fl_str_mv |
A novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset Parkinsonism |
title |
A novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset Parkinsonism |
spellingShingle |
A novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset Parkinsonism Parkinsonism Presenilin Genetics PSEN1 |
title_short |
A novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset Parkinsonism |
title_full |
A novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset Parkinsonism |
title_fullStr |
A novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset Parkinsonism |
title_full_unstemmed |
A novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset Parkinsonism |
title_sort |
A novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset Parkinsonism |
dc.creator.fl_str_mv |
Gatto, Emilia M Rojas, Galeno J Nemirovsky, Sergio I. Da Prat, Gustavo Persi, Gabriel Cesarini, Martin Etcheverry, Jose L Gonzalez Rojas, Natalia Parisi, Virginia Cordoba, Marta |
dc.contributor.author.spa.fl_str_mv |
Gatto, Emilia M Rojas, Galeno J Nemirovsky, Sergio I. Da Prat, Gustavo Persi, Gabriel Cesarini, Martin Etcheverry, Jose L Gonzalez Rojas, Natalia Parisi, Virginia Cordoba, Marta |
dc.subject.spa.fl_str_mv |
Parkinsonism Presenilin Genetics PSEN1 |
topic |
Parkinsonism Presenilin Genetics PSEN1 |
description |
Mutations in presenilin-1 (PSEN1) account for the majority of cases of familial autosomal dominant early-onset Alzheimer's disease (AD) as well as in sporadic forms. Atypical presentations are reported including extrapyramidal signs. In the last years, a pleiotropic effect of some PSEN1 variants has been reported in Parkinson's disease (PD). |
publishDate |
2020 |
dc.date.issued.none.fl_str_mv |
2020 |
dc.date.accessioned.none.fl_str_mv |
2021-02-04T23:22:24Z |
dc.date.available.none.fl_str_mv |
2021-02-04T23:22:24Z |
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Artículo de revista |
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https://hdl.handle.net/11323/7826 |
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https://doi.org/10.1016/j.parkreldis.2020.06.005 |
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Corporación Universidad de la Costa |
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REDICUC - Repositorio CUC |
dc.identifier.repourl.spa.fl_str_mv |
https://repositorio.cuc.edu.co/ |
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Corporación Universidad de la Costa REDICUC - Repositorio CUC |
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eng |
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eng |
dc.relation.references.spa.fl_str_mv |
Hunter S. Brayne C. Understanding the roles of mutations in the amyloid precursor protein in Alzheimer disease. Mol. Psychiatr. 2018; 23: 81-93 Niemann N. Jankovic J. Juvenile Parkinsonism: differential diagnosis, genetics, and treatment. Park. Relat. Disord. 2019; 67 (S1353802019302883): 74-89 Shen L. Qin W. Wu L. Zhou A. Tang Y. Wang Q. Jia L. Jia J. Two novel presenilin-1 mutations (I249L and P433S) in early onset Chinese Alzheimer's pedigrees and their functional characterization. Biochem. Biophys. Res. Commun. 2019; 516: 264-269 Carecchio M. Picillo M. Valletta L. Elia A.E. Haack T.B. Cozzolino A. Vitale A. Garavaglia B. Iuso A. Bagella C.F. Pappatà S. Barone P. Prokisch H. Romito L. Tiranti V. Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation. Neurogenetics. 2017; 18: 175-178 Jo H. Kim M. Park S. Park J.E. Cho S.H. Kim S.J. Jang H. Jung Y.H. Kim J. Na D.L. Seo S.W. Cho J.W. Kim H.J. Dopa responsive parkinsonism in an early onset Alzheimer's disease patient with a presenilin 1 mutation (A434T). JAD. 2019; 71: 7-13 Snider B.J. Norton J. Coats M.A. Chakraverty S. Hou C.E. Jervis R. Lendon C.L. Goate A.M. McKeel D.W. Morris J.C. Novel presenilin 1 mutation (S170F) causing alzheimer disease with Lewy bodies in the third decade of life. Arch. Neurol. 2005; 62: 1821 Wang Y. Liu N. Lu B. Mechanisms and roles of mitophagy in neurodegenerative diseases. CNS Neurosci. Ther. 2019; (cns.13140) Richards S. Aziz N. Bale S. Bick D. Das S. Gastier-Foster J. Grody W.W. Hegde M. Lyon E. Spector E. Voelkerding K. Rehm H.L. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and Genomics and the association for molecular pathology. Genet. Med. 2015; 17: 405-423 Shivamurthy V.K.N. Tahari A.K. Marcus C. Subramaniam R.M. Brain FDG PET and the diagnosis of dementia. Am. J. Roentgenol. 2014; 204: W76-W85 Ramirez Aguilar L. Acosta-Uribe J. Giraldo M.M. Moreno S. Baena A. Alzate D. Cuastumal R. Aguillón D. Madrigal L. Saldarriaga A. Navarro A. Garcia G.P. Aguirre-Acevedo D.C. Geier E.G. Cochran J.N. Quiroz Y.T. Myers R.M. Yokoyama J.S. Kosik K.S. Lopera F. Genetic origin of a large family with a novel PSEN1 mutation (Ile416Thr). Alzheimer's Dementia. 2019; 15: 709-719 Gondim D.D. Oblak A. Murrell J.R. Richardson R. Epperson F. Ross O.A. Ghetti B. Diffuse Lewy body disease and alzheimer disease: neuropathologic phenotype Associated with the PSEN1 p.A396T mutation. J. Neuropathol. Exp. Neurol. 2019; 78: 585-594 Checler F. Goiran T. Alves da Costa C. Presenilins at the crossroad of a functional interplay between PARK2/PARKIN and PINK1 to control mitophagy: implication for neurodegenerative diseases. Autophagy. 2017; 13: 2004-2005 Jack C.R. Bennett D.A. Blennow K. Carrillo M.C. Dunn B. Haeberlein S.B. Holtzman D.M. Jagust W. Jessen F. Karlawish J. Liu E. Molinuevo J.L. Montine T. Phelps C. Rankin K.P. Rowe C.C. Scheltens P. Siemers E. Snyder H.M. Sperling R. Elliott C. Masliah E. Ryan L. Silverberg N. NIA-AA Research Framework: toward a biological definition of Alzheimer's disease. Alzheimer's Dementia. 2018; 14: 535-562 Fossati S. Ramos Cejudo J. Debure L. Pirraglia E. Sone J.Y. Li Y. Chen J. Butler T. Zetterberg H. Blennow K. de Leon M.J. Plasma tau complements CSF tau and P-tau in the diagnosis of Alzheimer's disease, Alzheimer's & dementia: diagnosis, assessment & disease monitoring. 11. 2019: 483-492 Skillbäck T. Farahmand B.Y. Rosén C. Mattsson N. Nägga K. Kilander L. Religa D. Wimo A. Winblad B. Schott J.M. Blennow K. Eriksdotter M. Zetterberg H. Cerebrospinal fluid tau and amyloid-β1-42 in patients with dementia. Brain. 2015; 138: 2716-2731 Santos-Mandujano R.A. Ryan N.S. Chávez-Gutiérrez L. Sánchez-Torres C. Meraz-Ríos M.A. Clinical association of white matter hyperintensities localization in a Mexican family with spastic paraparesis carrying the PSEN1 A431E mutation. J. Alzheim. Dis. 2020; 73: 1075-1083 |
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Attribution-NonCommercial-NoDerivatives 4.0 International |
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Gatto, Emilia MRojas, Galeno JNemirovsky, Sergio I.Da Prat, GustavoPersi, GabrielCesarini, MartinEtcheverry, Jose LGonzalez Rojas, NataliaParisi, VirginiaCordoba, Marta2021-02-04T23:22:24Z2021-02-04T23:22:24Z2020https://hdl.handle.net/11323/7826https://doi.org/10.1016/j.parkreldis.2020.06.005Corporación Universidad de la CostaREDICUC - Repositorio CUChttps://repositorio.cuc.edu.co/Mutations in presenilin-1 (PSEN1) account for the majority of cases of familial autosomal dominant early-onset Alzheimer's disease (AD) as well as in sporadic forms. Atypical presentations are reported including extrapyramidal signs. In the last years, a pleiotropic effect of some PSEN1 variants has been reported in Parkinson's disease (PD).Gatto, Emilia MRojas, Galeno JNemirovsky, Sergio I.-will be generated-orcid-0000-0003-4501-7052-600Da Prat, GustavoPersi, Gabriel-will be generated-orcid-0000-0003-1568-4313-600Cesarini, MartinEtcheverry, Jose LGonzalez Rojas, NataliaParisi, VirginiaCordoba, Martaapplication/pdfengCorporación Universidad de la CostaAttribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccesshttp://purl.org/coar/access_right/c_abf2Parkinsonism & Related Disordershttps://www.sciencedirect.com/science/article/abs/pii/S135380202030170X#!ParkinsonismPresenilinGeneticsPSEN1A novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset ParkinsonismArtículo de revistahttp://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_2df8fbb1Textinfo:eu-repo/semantics/articlehttp://purl.org/redcol/resource_type/ARTinfo:eu-repo/semantics/acceptedVersionHunter S. Brayne C. Understanding the roles of mutations in the amyloid precursor protein in Alzheimer disease. Mol. Psychiatr. 2018; 23: 81-93Niemann N. Jankovic J. Juvenile Parkinsonism: differential diagnosis, genetics, and treatment. Park. Relat. Disord. 2019; 67 (S1353802019302883): 74-89Shen L. Qin W. Wu L. Zhou A. Tang Y. Wang Q. Jia L. Jia J. Two novel presenilin-1 mutations (I249L and P433S) in early onset Chinese Alzheimer's pedigrees and their functional characterization. Biochem. Biophys. Res. Commun. 2019; 516: 264-269Carecchio M. Picillo M. Valletta L. Elia A.E. Haack T.B. Cozzolino A. Vitale A. Garavaglia B. Iuso A. Bagella C.F. Pappatà S. Barone P. Prokisch H. Romito L. Tiranti V. Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation. Neurogenetics. 2017; 18: 175-178Jo H. Kim M. Park S. Park J.E. Cho S.H. Kim S.J. Jang H. Jung Y.H. Kim J. Na D.L. Seo S.W. Cho J.W. Kim H.J. Dopa responsive parkinsonism in an early onset Alzheimer's disease patient with a presenilin 1 mutation (A434T). JAD. 2019; 71: 7-13Snider B.J. Norton J. Coats M.A. Chakraverty S. Hou C.E. Jervis R. Lendon C.L. Goate A.M. McKeel D.W. Morris J.C. Novel presenilin 1 mutation (S170F) causing alzheimer disease with Lewy bodies in the third decade of life. Arch. Neurol. 2005; 62: 1821Wang Y. Liu N. Lu B. Mechanisms and roles of mitophagy in neurodegenerative diseases. CNS Neurosci. Ther. 2019; (cns.13140)Richards S. Aziz N. Bale S. Bick D. Das S. Gastier-Foster J. Grody W.W. Hegde M. Lyon E. Spector E. Voelkerding K. Rehm H.L. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and Genomics and the association for molecular pathology. Genet. Med. 2015; 17: 405-423Shivamurthy V.K.N. Tahari A.K. Marcus C. Subramaniam R.M. Brain FDG PET and the diagnosis of dementia. Am. J. Roentgenol. 2014; 204: W76-W85Ramirez Aguilar L. Acosta-Uribe J. Giraldo M.M. Moreno S. Baena A. Alzate D. Cuastumal R. Aguillón D. Madrigal L. Saldarriaga A. Navarro A. Garcia G.P. Aguirre-Acevedo D.C. Geier E.G. Cochran J.N. Quiroz Y.T. Myers R.M. Yokoyama J.S. Kosik K.S. Lopera F. Genetic origin of a large family with a novel PSEN1 mutation (Ile416Thr). Alzheimer's Dementia. 2019; 15: 709-719Gondim D.D. Oblak A. Murrell J.R. Richardson R. Epperson F. Ross O.A. Ghetti B. Diffuse Lewy body disease and alzheimer disease: neuropathologic phenotype Associated with the PSEN1 p.A396T mutation. J. Neuropathol. Exp. Neurol. 2019; 78: 585-594Checler F. Goiran T. Alves da Costa C. Presenilins at the crossroad of a functional interplay between PARK2/PARKIN and PINK1 to control mitophagy: implication for neurodegenerative diseases. Autophagy. 2017; 13: 2004-2005Jack C.R. Bennett D.A. Blennow K. Carrillo M.C. Dunn B. Haeberlein S.B. Holtzman D.M. Jagust W. Jessen F. Karlawish J. Liu E. Molinuevo J.L. Montine T. Phelps C. Rankin K.P. Rowe C.C. Scheltens P. Siemers E. Snyder H.M. Sperling R. Elliott C. Masliah E. Ryan L. Silverberg N. NIA-AA Research Framework: toward a biological definition of Alzheimer's disease. Alzheimer's Dementia. 2018; 14: 535-562Fossati S. Ramos Cejudo J. Debure L. Pirraglia E. Sone J.Y. Li Y. Chen J. Butler T. Zetterberg H. Blennow K. de Leon M.J. Plasma tau complements CSF tau and P-tau in the diagnosis of Alzheimer's disease, Alzheimer's & dementia: diagnosis, assessment & disease monitoring. 11. 2019: 483-492Skillbäck T. Farahmand B.Y. Rosén C. Mattsson N. Nägga K. Kilander L. Religa D. Wimo A. Winblad B. Schott J.M. Blennow K. Eriksdotter M. Zetterberg H. Cerebrospinal fluid tau and amyloid-β1-42 in patients with dementia. Brain. 2015; 138: 2716-2731Santos-Mandujano R.A. Ryan N.S. Chávez-Gutiérrez L. Sánchez-Torres C. Meraz-Ríos M.A. Clinical association of white matter hyperintensities localization in a Mexican family with spastic paraparesis carrying the PSEN1 A431E mutation. J. Alzheim. Dis. 2020; 73: 1075-1083PublicationORIGINALA novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset Parkinsonism.pdfA novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset Parkinsonism.pdfapplication/pdf212634https://repositorio.cuc.edu.co/bitstreams/8fecf4c5-7584-4247-8632-f64edc03692f/download5a8c8944edef056db138343cb290e27fMD51LICENSElicense.txtlicense.txttext/plain; charset=utf-83196https://repositorio.cuc.edu.co/bitstreams/703004e2-7ae9-47bd-bafa-7df0028a83eb/downloade30e9215131d99561d40d6b0abbe9badMD53CC-LICENSElicense_rdflicense_rdfapplication/rdf+xml; charset=utf-8805https://repositorio.cuc.edu.co/bitstreams/20211016-dc7f-4a42-bc09-4e152e953310/download4460e5956bc1d1639be9ae6146a50347MD52THUMBNAILA novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset Parkinsonism.pdf.jpgA novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset 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