Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease
- Autores
- Muchnik, Carolina; Olivar, Natividad; Dalmasso, Maria Carolina; Azurmendi, Pablo Javier; Liberczuk, Cynthia; Morelli, Laura; Brusco, Luis Ignacio
- Año de publicación
- 2015
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- Presenilin 2 gene (PSEN2) mutations account for <5% of all early-onset familial Alzheimer's disease (EOFAD) cases and only 13 have strong evidence for pathogenicity. We aimed to investigate the presence of PSEN2 mutation p.N141I and characterize the clinical phenotypes in 2 Argentine pedigrees (AR2 and AR3) with clinical symptoms of EOFAD. Detailed clinical assessments and genetic screening for PSEN2 and APOE genes were carried out in 19 individuals of AR2 and AR3 families. The p.N141I mutation was identified in all affected subjects and was associated with prominent early onset, rapidly progressive dementia, neurologic, and behavioral symptoms. AR2 and AR3 families share the same Volga German ancestry as all the families reported presenting this mutation. To our knowledge, this is the first report of PSEN2 mutation p.N141I in Argentina and even more, in South America. Our contribution increases the total number of described families carrying this mutation and help to improve the characterization of clinical phenotype in EOFAD associated to PSEN2 mutations.
Fil: Muchnik, Carolina. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Fil: Olivar, Natividad. Universidad de Buenos Aires. Facultad de Medicina. Departamento de Ciencias Fisiológicas; Argentina
Fil: Dalmasso, Maria Carolina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Bioquímicas de Buenos Aires. Fundación Instituto Leloir. Instituto de Investigaciones Bioquímicas de Buenos Aires; Argentina
Fil: Azurmendi, Pablo Javier. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Liberczuk, Cynthia. Universidad de Buenos Aires. Facultad de Medicina. Departamento de Ciencias Fisiológicas; Argentina
Fil: Morelli, Laura. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Bioquímicas de Buenos Aires. Fundación Instituto Leloir. Instituto de Investigaciones Bioquímicas de Buenos Aires; Argentina
Fil: Brusco, Luis Ignacio. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina - Materia
-
ALZHEIMER'S DISEASE
DEMENTIA
MUTATION
PRESENILIN
SOUTH AMERICA
VOLGA GERMAN - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
- Repositorio
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/117685
Ver los metadatos del registro completo
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CONICET Digital (CONICET) |
spelling |
Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's diseaseMuchnik, CarolinaOlivar, NatividadDalmasso, Maria CarolinaAzurmendi, Pablo JavierLiberczuk, CynthiaMorelli, LauraBrusco, Luis IgnacioALZHEIMER'S DISEASEDEMENTIAMUTATIONPRESENILINSOUTH AMERICAVOLGA GERMANhttps://purl.org/becyt/ford/3.4https://purl.org/becyt/ford/3Presenilin 2 gene (PSEN2) mutations account for <5% of all early-onset familial Alzheimer's disease (EOFAD) cases and only 13 have strong evidence for pathogenicity. We aimed to investigate the presence of PSEN2 mutation p.N141I and characterize the clinical phenotypes in 2 Argentine pedigrees (AR2 and AR3) with clinical symptoms of EOFAD. Detailed clinical assessments and genetic screening for PSEN2 and APOE genes were carried out in 19 individuals of AR2 and AR3 families. The p.N141I mutation was identified in all affected subjects and was associated with prominent early onset, rapidly progressive dementia, neurologic, and behavioral symptoms. AR2 and AR3 families share the same Volga German ancestry as all the families reported presenting this mutation. To our knowledge, this is the first report of PSEN2 mutation p.N141I in Argentina and even more, in South America. Our contribution increases the total number of described families carrying this mutation and help to improve the characterization of clinical phenotype in EOFAD associated to PSEN2 mutations.Fil: Muchnik, Carolina. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Olivar, Natividad. Universidad de Buenos Aires. Facultad de Medicina. Departamento de Ciencias Fisiológicas; ArgentinaFil: Dalmasso, Maria Carolina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Bioquímicas de Buenos Aires. Fundación Instituto Leloir. Instituto de Investigaciones Bioquímicas de Buenos Aires; ArgentinaFil: Azurmendi, Pablo Javier. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Liberczuk, Cynthia. Universidad de Buenos Aires. Facultad de Medicina. Departamento de Ciencias Fisiológicas; ArgentinaFil: Morelli, Laura. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Bioquímicas de Buenos Aires. Fundación Instituto Leloir. Instituto de Investigaciones Bioquímicas de Buenos Aires; ArgentinaFil: Brusco, Luis Ignacio. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaElsevier Science Inc2015-10info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/117685Muchnik, Carolina; Olivar, Natividad; Dalmasso, Maria Carolina; Azurmendi, Pablo Javier; Liberczuk, Cynthia; et al.; Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease; Elsevier Science Inc; Neurobiology of Aging; 36; 10; 10-2015; 2674-2677.e10197-4580CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/abs/pii/S019745801500322Xinfo:eu-repo/semantics/altIdentifier/doi/10.1016/j.neurobiolaging.2015.06.011info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T09:42:14Zoai:ri.conicet.gov.ar:11336/117685instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 09:42:14.639CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
dc.title.none.fl_str_mv |
Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease |
title |
Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease |
spellingShingle |
Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease Muchnik, Carolina ALZHEIMER'S DISEASE DEMENTIA MUTATION PRESENILIN SOUTH AMERICA VOLGA GERMAN |
title_short |
Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease |
title_full |
Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease |
title_fullStr |
Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease |
title_full_unstemmed |
Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease |
title_sort |
Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease |
dc.creator.none.fl_str_mv |
Muchnik, Carolina Olivar, Natividad Dalmasso, Maria Carolina Azurmendi, Pablo Javier Liberczuk, Cynthia Morelli, Laura Brusco, Luis Ignacio |
author |
Muchnik, Carolina |
author_facet |
Muchnik, Carolina Olivar, Natividad Dalmasso, Maria Carolina Azurmendi, Pablo Javier Liberczuk, Cynthia Morelli, Laura Brusco, Luis Ignacio |
author_role |
author |
author2 |
Olivar, Natividad Dalmasso, Maria Carolina Azurmendi, Pablo Javier Liberczuk, Cynthia Morelli, Laura Brusco, Luis Ignacio |
author2_role |
author author author author author author |
dc.subject.none.fl_str_mv |
ALZHEIMER'S DISEASE DEMENTIA MUTATION PRESENILIN SOUTH AMERICA VOLGA GERMAN |
topic |
ALZHEIMER'S DISEASE DEMENTIA MUTATION PRESENILIN SOUTH AMERICA VOLGA GERMAN |
purl_subject.fl_str_mv |
https://purl.org/becyt/ford/3.4 https://purl.org/becyt/ford/3 |
dc.description.none.fl_txt_mv |
Presenilin 2 gene (PSEN2) mutations account for <5% of all early-onset familial Alzheimer's disease (EOFAD) cases and only 13 have strong evidence for pathogenicity. We aimed to investigate the presence of PSEN2 mutation p.N141I and characterize the clinical phenotypes in 2 Argentine pedigrees (AR2 and AR3) with clinical symptoms of EOFAD. Detailed clinical assessments and genetic screening for PSEN2 and APOE genes were carried out in 19 individuals of AR2 and AR3 families. The p.N141I mutation was identified in all affected subjects and was associated with prominent early onset, rapidly progressive dementia, neurologic, and behavioral symptoms. AR2 and AR3 families share the same Volga German ancestry as all the families reported presenting this mutation. To our knowledge, this is the first report of PSEN2 mutation p.N141I in Argentina and even more, in South America. Our contribution increases the total number of described families carrying this mutation and help to improve the characterization of clinical phenotype in EOFAD associated to PSEN2 mutations. Fil: Muchnik, Carolina. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina Fil: Olivar, Natividad. Universidad de Buenos Aires. Facultad de Medicina. Departamento de Ciencias Fisiológicas; Argentina Fil: Dalmasso, Maria Carolina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Bioquímicas de Buenos Aires. Fundación Instituto Leloir. Instituto de Investigaciones Bioquímicas de Buenos Aires; Argentina Fil: Azurmendi, Pablo Javier. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Liberczuk, Cynthia. Universidad de Buenos Aires. Facultad de Medicina. Departamento de Ciencias Fisiológicas; Argentina Fil: Morelli, Laura. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Bioquímicas de Buenos Aires. Fundación Instituto Leloir. Instituto de Investigaciones Bioquímicas de Buenos Aires; Argentina Fil: Brusco, Luis Ignacio. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina |
description |
Presenilin 2 gene (PSEN2) mutations account for <5% of all early-onset familial Alzheimer's disease (EOFAD) cases and only 13 have strong evidence for pathogenicity. We aimed to investigate the presence of PSEN2 mutation p.N141I and characterize the clinical phenotypes in 2 Argentine pedigrees (AR2 and AR3) with clinical symptoms of EOFAD. Detailed clinical assessments and genetic screening for PSEN2 and APOE genes were carried out in 19 individuals of AR2 and AR3 families. The p.N141I mutation was identified in all affected subjects and was associated with prominent early onset, rapidly progressive dementia, neurologic, and behavioral symptoms. AR2 and AR3 families share the same Volga German ancestry as all the families reported presenting this mutation. To our knowledge, this is the first report of PSEN2 mutation p.N141I in Argentina and even more, in South America. Our contribution increases the total number of described families carrying this mutation and help to improve the characterization of clinical phenotype in EOFAD associated to PSEN2 mutations. |
publishDate |
2015 |
dc.date.none.fl_str_mv |
2015-10 |
dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo |
format |
article |
status_str |
publishedVersion |
dc.identifier.none.fl_str_mv |
http://hdl.handle.net/11336/117685 Muchnik, Carolina; Olivar, Natividad; Dalmasso, Maria Carolina; Azurmendi, Pablo Javier; Liberczuk, Cynthia; et al.; Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease; Elsevier Science Inc; Neurobiology of Aging; 36; 10; 10-2015; 2674-2677.e1 0197-4580 CONICET Digital CONICET |
url |
http://hdl.handle.net/11336/117685 |
identifier_str_mv |
Muchnik, Carolina; Olivar, Natividad; Dalmasso, Maria Carolina; Azurmendi, Pablo Javier; Liberczuk, Cynthia; et al.; Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease; Elsevier Science Inc; Neurobiology of Aging; 36; 10; 10-2015; 2674-2677.e1 0197-4580 CONICET Digital CONICET |
dc.language.none.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/abs/pii/S019745801500322X info:eu-repo/semantics/altIdentifier/doi/10.1016/j.neurobiolaging.2015.06.011 |
dc.rights.none.fl_str_mv |
info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
eu_rights_str_mv |
openAccess |
rights_invalid_str_mv |
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
dc.format.none.fl_str_mv |
application/pdf application/pdf application/pdf application/pdf application/pdf |
dc.publisher.none.fl_str_mv |
Elsevier Science Inc |
publisher.none.fl_str_mv |
Elsevier Science Inc |
dc.source.none.fl_str_mv |
reponame:CONICET Digital (CONICET) instname:Consejo Nacional de Investigaciones Científicas y Técnicas |
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CONICET Digital (CONICET) |
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CONICET Digital (CONICET) |
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Consejo Nacional de Investigaciones Científicas y Técnicas |
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CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas |
repository.mail.fl_str_mv |
dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar |
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13.070432 |