Mosaicism of alpha-synuclein gene rearrangements: Report of two unrelated cases of early-onset parkinsonism

Autores
Perandones, Claudia; Giugni, J. C.; Calvo, D. S.; Raina, G. B.; De Jorge Lopez, L.; Volpini, Victor; Zabetian, Cyrus P.; Mata, Ignacio F.; Caputo, Mariela; Corach, Daniel; Radrizzani Helguera, Martin; Micheli, Federico Eduardo
Año de publicación
2014
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
In genetics, the term mosaicism describes the situation in which groups of cells have a different genetic composition to other cells in an organism. Somatic gene rearrangements due to multiplication or deletion of genes (copy number variation) and/or sections of chromosomes can lead to mosaicism. The presence of multiple copies of the alpha-synuclein gene (SNCA) is known to be associated with Parkinson´s disease (PD) and the severity of symptoms increases with the number of copies of the gene [1]. While the features of PD associated with duplication of SNCA are usually (but not always) typical of the condition [2] and [3], patients with triplicate copies have atypical features, including rapidly evolving symptoms, severe cognitive impairment, limited response to levodopa, more severe symptoms of dementia and more frequent urinary incontinence [2]. A lack of studies of mosaicism in PD illustrates that the prevalence and mechanism of these rearrangements have not yet been elucidated.
Fil: Perandones, Claudia. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorio e Instituto de Salud “Dr. C. G. Malbrán”; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Giugni, J. C.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Calvo, D. S.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Raina, G. B.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: De Jorge Lopez, L.. Universidad de Barcelona. Hospital Duran I Reynals. Instituto de Investigación Biomédica de Bellvitge; España
Fil: Volpini, Victor. Universidad de Barcelona. Hospital Duran I Reynals. Instituto de Investigación Biomédica de Bellvitge; España
Fil: Zabetian, Cyrus P.. University of Washington; Estados Unidos
Fil: Mata, Ignacio F.. University of Washington; Estados Unidos
Fil: Caputo, Mariela. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Corach, Daniel. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Radrizzani Helguera, Martin. Universidad Nacional de San Martín; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Micheli, Federico Eduardo. Universidad de Buenos Aires. Facultad de Medicina; Argentina
Materia
GENE MULTIPLICATION
MOSAICISM
PARKINSON'S DISEASE
Α-SYNUCLEIN
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/99163
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/99163
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Mosaicism of alpha-synuclein gene rearrangements: Report of two unrelated cases of early-onset parkinsonismPerandones, ClaudiaGiugni, J. C.Calvo, D. S.Raina, G. B.De Jorge Lopez, L.Volpini, VictorZabetian, Cyrus P.Mata, Ignacio F.Caputo, MarielaCorach, DanielRadrizzani Helguera, MartinMicheli, Federico EduardoGENE MULTIPLICATIONMOSAICISMPARKINSON'S DISEASEΑ-SYNUCLEINhttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3In genetics, the term mosaicism describes the situation in which groups of cells have a different genetic composition to other cells in an organism. Somatic gene rearrangements due to multiplication or deletion of genes (copy number variation) and/or sections of chromosomes can lead to mosaicism. The presence of multiple copies of the alpha-synuclein gene (SNCA) is known to be associated with Parkinson´s disease (PD) and the severity of symptoms increases with the number of copies of the gene [1]. While the features of PD associated with duplication of SNCA are usually (but not always) typical of the condition [2] and [3], patients with triplicate copies have atypical features, including rapidly evolving symptoms, severe cognitive impairment, limited response to levodopa, more severe symptoms of dementia and more frequent urinary incontinence [2]. A lack of studies of mosaicism in PD illustrates that the prevalence and mechanism of these rearrangements have not yet been elucidated.Fil: Perandones, Claudia. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorio e Instituto de Salud “Dr. C. G. Malbrán”; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; ArgentinaFil: Giugni, J. C.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; ArgentinaFil: Calvo, D. S.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; ArgentinaFil: Raina, G. B.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; ArgentinaFil: De Jorge Lopez, L.. Universidad de Barcelona. Hospital Duran I Reynals. Instituto de Investigación Biomédica de Bellvitge; EspañaFil: Volpini, Victor. Universidad de Barcelona. Hospital Duran I Reynals. Instituto de Investigación Biomédica de Bellvitge; EspañaFil: Zabetian, Cyrus P.. University of Washington; Estados UnidosFil: Mata, Ignacio F.. University of Washington; Estados UnidosFil: Caputo, Mariela. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Corach, Daniel. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Radrizzani Helguera, Martin. Universidad Nacional de San Martín; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Micheli, Federico Eduardo. Universidad de Buenos Aires. Facultad de Medicina; ArgentinaElsevier2014-05info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/99163Perandones, Claudia; Giugni, J. C.; Calvo, D. S.; Raina, G. B.; De Jorge Lopez, L.; et al.; Mosaicism of alpha-synuclein gene rearrangements: Report of two unrelated cases of early-onset parkinsonism; Elsevier; Parkinsonism & Related Disorders; 20; 5; 5-2014; 558-5611353-8020CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S1353802013004148info:eu-repo/semantics/altIdentifier/doi/10.1016/j.parkreldis.2013.11.014info:eu-repo/semantics/altIdentifier/url/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4197942/info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-10-15T14:58:03Zoai:ri.conicet.gov.ar:11336/99163instacron: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 14:58:04.001CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Mosaicism of alpha-synuclein gene rearrangements: Report of two unrelated cases of early-onset parkinsonism
title Mosaicism of alpha-synuclein gene rearrangements: Report of two unrelated cases of early-onset parkinsonism
spellingShingle Mosaicism of alpha-synuclein gene rearrangements: Report of two unrelated cases of early-onset parkinsonism
Perandones, Claudia
GENE MULTIPLICATION
MOSAICISM
PARKINSON'S DISEASE
Α-SYNUCLEIN
title_short Mosaicism of alpha-synuclein gene rearrangements: Report of two unrelated cases of early-onset parkinsonism
title_full Mosaicism of alpha-synuclein gene rearrangements: Report of two unrelated cases of early-onset parkinsonism
title_fullStr Mosaicism of alpha-synuclein gene rearrangements: Report of two unrelated cases of early-onset parkinsonism
title_full_unstemmed Mosaicism of alpha-synuclein gene rearrangements: Report of two unrelated cases of early-onset parkinsonism
title_sort Mosaicism of alpha-synuclein gene rearrangements: Report of two unrelated cases of early-onset parkinsonism
dc.creator.none.fl_str_mv Perandones, Claudia
Giugni, J. C.
Calvo, D. S.
Raina, G. B.
De Jorge Lopez, L.
Volpini, Victor
Zabetian, Cyrus P.
Mata, Ignacio F.
Caputo, Mariela
Corach, Daniel
Radrizzani Helguera, Martin
Micheli, Federico Eduardo
author Perandones, Claudia
author_facet Perandones, Claudia
Giugni, J. C.
Calvo, D. S.
Raina, G. B.
De Jorge Lopez, L.
Volpini, Victor
Zabetian, Cyrus P.
Mata, Ignacio F.
Caputo, Mariela
Corach, Daniel
Radrizzani Helguera, Martin
Micheli, Federico Eduardo
author_role author
author2 Giugni, J. C.
Calvo, D. S.
Raina, G. B.
De Jorge Lopez, L.
Volpini, Victor
Zabetian, Cyrus P.
Mata, Ignacio F.
Caputo, Mariela
Corach, Daniel
Radrizzani Helguera, Martin
Micheli, Federico Eduardo
author2_role author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv GENE MULTIPLICATION
MOSAICISM
PARKINSON'S DISEASE
Α-SYNUCLEIN
topic GENE MULTIPLICATION
MOSAICISM
PARKINSON'S DISEASE
Α-SYNUCLEIN
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv In genetics, the term mosaicism describes the situation in which groups of cells have a different genetic composition to other cells in an organism. Somatic gene rearrangements due to multiplication or deletion of genes (copy number variation) and/or sections of chromosomes can lead to mosaicism. The presence of multiple copies of the alpha-synuclein gene (SNCA) is known to be associated with Parkinson´s disease (PD) and the severity of symptoms increases with the number of copies of the gene [1]. While the features of PD associated with duplication of SNCA are usually (but not always) typical of the condition [2] and [3], patients with triplicate copies have atypical features, including rapidly evolving symptoms, severe cognitive impairment, limited response to levodopa, more severe symptoms of dementia and more frequent urinary incontinence [2]. A lack of studies of mosaicism in PD illustrates that the prevalence and mechanism of these rearrangements have not yet been elucidated.
Fil: Perandones, Claudia. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorio e Instituto de Salud “Dr. C. G. Malbrán”; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Giugni, J. C.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Calvo, D. S.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Raina, G. B.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: De Jorge Lopez, L.. Universidad de Barcelona. Hospital Duran I Reynals. Instituto de Investigación Biomédica de Bellvitge; España
Fil: Volpini, Victor. Universidad de Barcelona. Hospital Duran I Reynals. Instituto de Investigación Biomédica de Bellvitge; España
Fil: Zabetian, Cyrus P.. University of Washington; Estados Unidos
Fil: Mata, Ignacio F.. University of Washington; Estados Unidos
Fil: Caputo, Mariela. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Corach, Daniel. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Radrizzani Helguera, Martin. Universidad Nacional de San Martín; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Micheli, Federico Eduardo. Universidad de Buenos Aires. Facultad de Medicina; Argentina
description In genetics, the term mosaicism describes the situation in which groups of cells have a different genetic composition to other cells in an organism. Somatic gene rearrangements due to multiplication or deletion of genes (copy number variation) and/or sections of chromosomes can lead to mosaicism. The presence of multiple copies of the alpha-synuclein gene (SNCA) is known to be associated with Parkinson´s disease (PD) and the severity of symptoms increases with the number of copies of the gene [1]. While the features of PD associated with duplication of SNCA are usually (but not always) typical of the condition [2] and [3], patients with triplicate copies have atypical features, including rapidly evolving symptoms, severe cognitive impairment, limited response to levodopa, more severe symptoms of dementia and more frequent urinary incontinence [2]. A lack of studies of mosaicism in PD illustrates that the prevalence and mechanism of these rearrangements have not yet been elucidated.
publishDate 2014
dc.date.none.fl_str_mv 2014-05
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/11336/99163
Perandones, Claudia; Giugni, J. C.; Calvo, D. S.; Raina, G. B.; De Jorge Lopez, L.; et al.; Mosaicism of alpha-synuclein gene rearrangements: Report of two unrelated cases of early-onset parkinsonism; Elsevier; Parkinsonism & Related Disorders; 20; 5; 5-2014; 558-561
1353-8020
CONICET Digital
CONICET
url http://hdl.handle.net/11336/99163
identifier_str_mv Perandones, Claudia; Giugni, J. C.; Calvo, D. S.; Raina, G. B.; De Jorge Lopez, L.; et al.; Mosaicism of alpha-synuclein gene rearrangements: Report of two unrelated cases of early-onset parkinsonism; Elsevier; Parkinsonism & Related Disorders; 20; 5; 5-2014; 558-561
1353-8020
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/pii/S1353802013004148
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.parkreldis.2013.11.014
info:eu-repo/semantics/altIdentifier/url/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4197942/
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
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
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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