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...

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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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network_acronym_str RCUC2
network_name_str REDICUC - Repositorio CUC
repository_id_str
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
dc.type.spa.fl_str_mv Artículo de revista
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dc.identifier.uri.spa.fl_str_mv https://hdl.handle.net/11323/7826
dc.identifier.doi.spa.fl_str_mv https://doi.org/10.1016/j.parkreldis.2020.06.005
dc.identifier.instname.spa.fl_str_mv Corporación Universidad de la Costa
dc.identifier.reponame.spa.fl_str_mv REDICUC - Repositorio CUC
dc.identifier.repourl.spa.fl_str_mv https://repositorio.cuc.edu.co/
url https://hdl.handle.net/11323/7826
https://doi.org/10.1016/j.parkreldis.2020.06.005
https://repositorio.cuc.edu.co/
identifier_str_mv Corporación Universidad de la Costa
REDICUC - Repositorio CUC
dc.language.iso.none.fl_str_mv eng
language 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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dc.source.spa.fl_str_mv Parkinsonism & Related Disorders
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spelling 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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