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
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/99163
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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/ |
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info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
eu_rights_str_mv |
openAccess |
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https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
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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 |
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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 |
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dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar |
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