Heterozygous app a713t mutation carrier with inflammatoy amyloid angiopathy and family history of alzheimer´s disease: First case in Argentina

Autores
Fernández Suárez, Marcos Nicolás; Brusco, Luis Ignacio; Dalmasso, Maria Carolina; Olivar, Natividad; Morelli, Laura; Russo, Griselda
Año de publicación
2019
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Aim: To report the case of a patient who suffered from cerebral amyloid angiopathy due to an autosomal dominant mutation in the APP gene Design/Methods: Medical record and neuroimaging revision. DNA extraction from the saliva sample. Sanger sequencing of the coding regions of the following: APP (NCBI RefSeq NM_000484.3), PSEN1 (NCBI RefSeq NM_000021.3) y PSEN2 (NCBI RefSeq NM_000447.2) Clinical case: A male patient of 71-year-old with a past medical history of recurrent lobar hemorrhagic strokes leading to major cognitive decline since the age of 65, prominent cerebral microangiopathy was present and worsened progressively. Patient´s mother had presenile Alzheimer`s disease. The patient developed partial nonconvulsive status epilepticus, no evidence of new strokes (ischemic or hemorrhagic) was found. Two weeks after seizures a new MRI unveiled right frontal meningeal enhancement. Lumbar puncture and cultures were normal. Inflammatory amyloid angiopathy was suspected. A course of IV methylprednisolone was administered followed by oral steroids with a slight improvement. The patient died four months after due to clinical complications. Post-mortem analysis confirmed a heterozygous mutation: c.2137G>A; p.Arg713Thr at exon 17 of the APP gene. Conclusion: The A713T mutation has been reported by groups of European researchers (British, Spanish and Italian) with variable phenotypes. This would be the first case detected in Argentina to our knowledge. It is notable the main manifestation in our case was the presence of recurrent hemorrhagic stroke, however, the antecedent of a pre-senile AD in a first-degree relative suggested the presence of genetic etiology. This mutation may be underdiagnosed. It would be advisable that a complete genogram must be performed in patients with cerebral amyloid angiopathy. The detection of these cases has implications for genetic counselling.
Fil: Fernández Suárez, Marcos Nicolás. Centro de Neuropsiquiatría y Neurología de la Conducta; Argentina. Fundacion de Neurociencias del Alto Uruguay; Argentina
Fil: Brusco, Luis Ignacio. Alzheimer Argentina; Argentina. Alinearte Sa.; 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: Olivar, Natividad. Alzheimer Argentina; 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: Russo, Griselda. Centro de Neuropsiquiatría y Neurología de la Conducta; Argentina. Fundación de Neurociencias del Alto Uruguay; Argentina
Materia
FAMILIAR ALZHEIMER DISEASE
AMYLOID ANGIOPATHY
APP
A713T
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/141436
Acceder
id CONICETDig_509616f3972703dddd493c9845d514d2
oai_identifier_str oai:ri.conicet.gov.ar:11336/141436
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Heterozygous app a713t mutation carrier with inflammatoy amyloid angiopathy and family history of alzheimer´s disease: First case in ArgentinaFernández Suárez, Marcos NicolásBrusco, Luis IgnacioDalmasso, Maria CarolinaOlivar, NatividadMorelli, LauraRusso, GriseldaFAMILIAR ALZHEIMER DISEASEAMYLOID ANGIOPATHYAPPA713Thttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3Aim: To report the case of a patient who suffered from cerebral amyloid angiopathy due to an autosomal dominant mutation in the APP gene Design/Methods: Medical record and neuroimaging revision. DNA extraction from the saliva sample. Sanger sequencing of the coding regions of the following: APP (NCBI RefSeq NM_000484.3), PSEN1 (NCBI RefSeq NM_000021.3) y PSEN2 (NCBI RefSeq NM_000447.2) Clinical case: A male patient of 71-year-old with a past medical history of recurrent lobar hemorrhagic strokes leading to major cognitive decline since the age of 65, prominent cerebral microangiopathy was present and worsened progressively. Patient´s mother had presenile Alzheimer`s disease. The patient developed partial nonconvulsive status epilepticus, no evidence of new strokes (ischemic or hemorrhagic) was found. Two weeks after seizures a new MRI unveiled right frontal meningeal enhancement. Lumbar puncture and cultures were normal. Inflammatory amyloid angiopathy was suspected. A course of IV methylprednisolone was administered followed by oral steroids with a slight improvement. The patient died four months after due to clinical complications. Post-mortem analysis confirmed a heterozygous mutation: c.2137G>A; p.Arg713Thr at exon 17 of the APP gene. Conclusion: The A713T mutation has been reported by groups of European researchers (British, Spanish and Italian) with variable phenotypes. This would be the first case detected in Argentina to our knowledge. It is notable the main manifestation in our case was the presence of recurrent hemorrhagic stroke, however, the antecedent of a pre-senile AD in a first-degree relative suggested the presence of genetic etiology. This mutation may be underdiagnosed. It would be advisable that a complete genogram must be performed in patients with cerebral amyloid angiopathy. The detection of these cases has implications for genetic counselling.Fil: Fernández Suárez, Marcos Nicolás. Centro de Neuropsiquiatría y Neurología de la Conducta; Argentina. Fundacion de Neurociencias del Alto Uruguay; ArgentinaFil: Brusco, Luis Ignacio. Alzheimer Argentina; Argentina. Alinearte Sa.; 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: Olivar, Natividad. Alzheimer Argentina; 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: Russo, Griselda. Centro de Neuropsiquiatría y Neurología de la Conducta; Argentina. Fundación de Neurociencias del Alto Uruguay; ArgentinaMedCrave2019-04info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/141436Fernández Suárez, Marcos Nicolás; Brusco, Luis Ignacio; Dalmasso, Maria Carolina; Olivar, Natividad; Morelli, Laura; et al.; Heterozygous app a713t mutation carrier with inflammatoy amyloid angiopathy and family history of alzheimer´s disease: First case in Argentina; MedCrave; Journal of Neurology & Stroke; 9; 2; 4-2019; 86-892373-6410CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://medcraveonline.com/JNSK/heterozygous-app-a713t-mutation-carrier-with-inflammatoy-amyloid-angiopathy-and-family-history-of-alzheimeracutes-disease-first-case-in-argentina.htmlinfo:eu-repo/semantics/altIdentifier/doi/10.15406/jnsk.2019.09.00353info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-10-15T14:31:19Zoai:ri.conicet.gov.ar:11336/141436instacron: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:34982025-10-15 14:31:19.726CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Heterozygous app a713t mutation carrier with inflammatoy amyloid angiopathy and family history of alzheimer´s disease: First case in Argentina
title Heterozygous app a713t mutation carrier with inflammatoy amyloid angiopathy and family history of alzheimer´s disease: First case in Argentina
spellingShingle Heterozygous app a713t mutation carrier with inflammatoy amyloid angiopathy and family history of alzheimer´s disease: First case in Argentina
Fernández Suárez, Marcos Nicolás
FAMILIAR ALZHEIMER DISEASE
AMYLOID ANGIOPATHY
APP
A713T
title_short Heterozygous app a713t mutation carrier with inflammatoy amyloid angiopathy and family history of alzheimer´s disease: First case in Argentina
title_full Heterozygous app a713t mutation carrier with inflammatoy amyloid angiopathy and family history of alzheimer´s disease: First case in Argentina
title_fullStr Heterozygous app a713t mutation carrier with inflammatoy amyloid angiopathy and family history of alzheimer´s disease: First case in Argentina
title_full_unstemmed Heterozygous app a713t mutation carrier with inflammatoy amyloid angiopathy and family history of alzheimer´s disease: First case in Argentina
title_sort Heterozygous app a713t mutation carrier with inflammatoy amyloid angiopathy and family history of alzheimer´s disease: First case in Argentina
dc.creator.none.fl_str_mv Fernández Suárez, Marcos Nicolás
Brusco, Luis Ignacio
Dalmasso, Maria Carolina
Olivar, Natividad
Morelli, Laura
Russo, Griselda
author Fernández Suárez, Marcos Nicolás
author_facet Fernández Suárez, Marcos Nicolás
Brusco, Luis Ignacio
Dalmasso, Maria Carolina
Olivar, Natividad
Morelli, Laura
Russo, Griselda
author_role author
author2 Brusco, Luis Ignacio
Dalmasso, Maria Carolina
Olivar, Natividad
Morelli, Laura
Russo, Griselda
author2_role author
author
author
author
author
dc.subject.none.fl_str_mv FAMILIAR ALZHEIMER DISEASE
AMYLOID ANGIOPATHY
APP
A713T
topic FAMILIAR ALZHEIMER DISEASE
AMYLOID ANGIOPATHY
APP
A713T
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Aim: To report the case of a patient who suffered from cerebral amyloid angiopathy due to an autosomal dominant mutation in the APP gene Design/Methods: Medical record and neuroimaging revision. DNA extraction from the saliva sample. Sanger sequencing of the coding regions of the following: APP (NCBI RefSeq NM_000484.3), PSEN1 (NCBI RefSeq NM_000021.3) y PSEN2 (NCBI RefSeq NM_000447.2) Clinical case: A male patient of 71-year-old with a past medical history of recurrent lobar hemorrhagic strokes leading to major cognitive decline since the age of 65, prominent cerebral microangiopathy was present and worsened progressively. Patient´s mother had presenile Alzheimer`s disease. The patient developed partial nonconvulsive status epilepticus, no evidence of new strokes (ischemic or hemorrhagic) was found. Two weeks after seizures a new MRI unveiled right frontal meningeal enhancement. Lumbar puncture and cultures were normal. Inflammatory amyloid angiopathy was suspected. A course of IV methylprednisolone was administered followed by oral steroids with a slight improvement. The patient died four months after due to clinical complications. Post-mortem analysis confirmed a heterozygous mutation: c.2137G>A; p.Arg713Thr at exon 17 of the APP gene. Conclusion: The A713T mutation has been reported by groups of European researchers (British, Spanish and Italian) with variable phenotypes. This would be the first case detected in Argentina to our knowledge. It is notable the main manifestation in our case was the presence of recurrent hemorrhagic stroke, however, the antecedent of a pre-senile AD in a first-degree relative suggested the presence of genetic etiology. This mutation may be underdiagnosed. It would be advisable that a complete genogram must be performed in patients with cerebral amyloid angiopathy. The detection of these cases has implications for genetic counselling.
Fil: Fernández Suárez, Marcos Nicolás. Centro de Neuropsiquiatría y Neurología de la Conducta; Argentina. Fundacion de Neurociencias del Alto Uruguay; Argentina
Fil: Brusco, Luis Ignacio. Alzheimer Argentina; Argentina. Alinearte Sa.; 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: Olivar, Natividad. Alzheimer Argentina; 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: Russo, Griselda. Centro de Neuropsiquiatría y Neurología de la Conducta; Argentina. Fundación de Neurociencias del Alto Uruguay; Argentina
description Aim: To report the case of a patient who suffered from cerebral amyloid angiopathy due to an autosomal dominant mutation in the APP gene Design/Methods: Medical record and neuroimaging revision. DNA extraction from the saliva sample. Sanger sequencing of the coding regions of the following: APP (NCBI RefSeq NM_000484.3), PSEN1 (NCBI RefSeq NM_000021.3) y PSEN2 (NCBI RefSeq NM_000447.2) Clinical case: A male patient of 71-year-old with a past medical history of recurrent lobar hemorrhagic strokes leading to major cognitive decline since the age of 65, prominent cerebral microangiopathy was present and worsened progressively. Patient´s mother had presenile Alzheimer`s disease. The patient developed partial nonconvulsive status epilepticus, no evidence of new strokes (ischemic or hemorrhagic) was found. Two weeks after seizures a new MRI unveiled right frontal meningeal enhancement. Lumbar puncture and cultures were normal. Inflammatory amyloid angiopathy was suspected. A course of IV methylprednisolone was administered followed by oral steroids with a slight improvement. The patient died four months after due to clinical complications. Post-mortem analysis confirmed a heterozygous mutation: c.2137G>A; p.Arg713Thr at exon 17 of the APP gene. Conclusion: The A713T mutation has been reported by groups of European researchers (British, Spanish and Italian) with variable phenotypes. This would be the first case detected in Argentina to our knowledge. It is notable the main manifestation in our case was the presence of recurrent hemorrhagic stroke, however, the antecedent of a pre-senile AD in a first-degree relative suggested the presence of genetic etiology. This mutation may be underdiagnosed. It would be advisable that a complete genogram must be performed in patients with cerebral amyloid angiopathy. The detection of these cases has implications for genetic counselling.
publishDate 2019
dc.date.none.fl_str_mv 2019-04
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/11336/141436
Fernández Suárez, Marcos Nicolás; Brusco, Luis Ignacio; Dalmasso, Maria Carolina; Olivar, Natividad; Morelli, Laura; et al.; Heterozygous app a713t mutation carrier with inflammatoy amyloid angiopathy and family history of alzheimer´s disease: First case in Argentina; MedCrave; Journal of Neurology & Stroke; 9; 2; 4-2019; 86-89
2373-6410
CONICET Digital
CONICET
url http://hdl.handle.net/11336/141436
identifier_str_mv Fernández Suárez, Marcos Nicolás; Brusco, Luis Ignacio; Dalmasso, Maria Carolina; Olivar, Natividad; Morelli, Laura; et al.; Heterozygous app a713t mutation carrier with inflammatoy amyloid angiopathy and family history of alzheimer´s disease: First case in Argentina; MedCrave; Journal of Neurology & Stroke; 9; 2; 4-2019; 86-89
2373-6410
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://medcraveonline.com/JNSK/heterozygous-app-a713t-mutation-carrier-with-inflammatoy-amyloid-angiopathy-and-family-history-of-alzheimeracutes-disease-first-case-in-argentina.html
info:eu-repo/semantics/altIdentifier/doi/10.15406/jnsk.2019.09.00353
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv MedCrave
publisher.none.fl_str_mv MedCrave
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv 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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score 13.22299

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