Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?

Clinical phenotype; Pediatric patients; Spinal muscular atrophy

Detalles Bibliográficos
Autores: Ricci, Martina, Cicala, Gianpaolo, Capasso, Anna, Coratti, Giorgia, Fiori, Stefania, Cutrona, Costanza, TIZZANO, EDUARDO F.
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2023
País:España
Institución:Departament de Salut de la Generalitat de Catalunya (DS)
Repositorio:Scientia. Dipòsit d'Informació Digital del Departament de Salut
OAI Identifier:oai:scientiasalut.gencat.cat:11351/11129
Acceso en línea:https://hdl.handle.net/11351/11129
Access Level:acceso abierto
Palabra clave:Atròfia muscular espinal - Aspectes genètics
Fenotip
DISEASES::Nervous System Diseases::Central Nervous System Diseases::Spinal Cord Diseases::Muscular Atrophy, Spinal
Other subheadings::Other subheadings::Other subheadings::/genetics
PHENOMENA AND PROCESSES::Genetic Phenomena::Phenotype
ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades de la médula espinal::atrofia muscular espinal
Otros calificadores::Otros calificadores::Otros calificadores::/genética
FENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipo
id ES_3238df6f40a06ee7f3dc2b70114c9934
oai_identifier_str oai:scientiasalut.gencat.cat:11351/11129
network_acronym_str ES
network_name_str España
repository_id_str
dc.title.none.fl_str_mv Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
title Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
spellingShingle Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
Ricci, Martina
Atròfia muscular espinal - Aspectes genètics
Fenotip
DISEASES::Nervous System Diseases::Central Nervous System Diseases::Spinal Cord Diseases::Muscular Atrophy, Spinal
Other subheadings::Other subheadings::Other subheadings::/genetics
PHENOMENA AND PROCESSES::Genetic Phenomena::Phenotype
ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades de la médula espinal::atrofia muscular espinal
Otros calificadores::Otros calificadores::Otros calificadores::/genética
FENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipo
title_short Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
title_full Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
title_fullStr Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
title_full_unstemmed Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
title_sort Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
dc.creator.none.fl_str_mv Ricci, Martina
Cicala, Gianpaolo
Capasso, Anna
Coratti, Giorgia
Fiori, Stefania
Cutrona, Costanza
TIZZANO, EDUARDO F.
author Ricci, Martina
author_facet Ricci, Martina
Cicala, Gianpaolo
Capasso, Anna
Coratti, Giorgia
Fiori, Stefania
Cutrona, Costanza
TIZZANO, EDUARDO F.
author_role author
author2 Cicala, Gianpaolo
Capasso, Anna
Coratti, Giorgia
Fiori, Stefania
Cutrona, Costanza
TIZZANO, EDUARDO F.
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv Institut Català de la Salut
[Ricci M, Cicala G, Capasso A, Coratti G] Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy. Centro Clinico Nemo, Fondazione Agostino Gemelli IRCCS, Rome, Italy. [Fiori S] Department of Life Sciences and Public Health, Section of Genomic Medicine, Università Cattolica del Sacro Cuore, Rome, Italy. [Cutrona C] Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy. [Tizzano E] Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca de Medicina Genètica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain
Vall d'Hebron Barcelona Hospital Campus
dc.subject.none.fl_str_mv Atròfia muscular espinal - Aspectes genètics
Fenotip
DISEASES::Nervous System Diseases::Central Nervous System Diseases::Spinal Cord Diseases::Muscular Atrophy, Spinal
Other subheadings::Other subheadings::Other subheadings::/genetics
PHENOMENA AND PROCESSES::Genetic Phenomena::Phenotype
ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades de la médula espinal::atrofia muscular espinal
Otros calificadores::Otros calificadores::Otros calificadores::/genética
FENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipo
topic Atròfia muscular espinal - Aspectes genètics
Fenotip
DISEASES::Nervous System Diseases::Central Nervous System Diseases::Spinal Cord Diseases::Muscular Atrophy, Spinal
Other subheadings::Other subheadings::Other subheadings::/genetics
PHENOMENA AND PROCESSES::Genetic Phenomena::Phenotype
ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades de la médula espinal::atrofia muscular espinal
Otros calificadores::Otros calificadores::Otros calificadores::/genética
FENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipo
description Clinical phenotype; Pediatric patients; Spinal muscular atrophy
publishDate 2023
dc.date.none.fl_str_mv 2023
2024
2024
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/11351/11129
url https://hdl.handle.net/11351/11129
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Annals of Neurology;94(6)
https://doi.org/10.1002/ana.26788
dc.rights.none.fl_str_mv Attribution-NonCommercial-NoDerivatives 4.0 International
http://creativecommons.org/licenses/by-nc-nd/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Attribution-NonCommercial-NoDerivatives 4.0 International
http://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Wiley
publisher.none.fl_str_mv Wiley
dc.source.none.fl_str_mv Scientia
reponame:Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname:Departament de Salut de la Generalitat de Catalunya (DS)
instname_str Departament de Salut de la Generalitat de Catalunya (DS)
reponame_str Scientia. Dipòsit d'Informació Digital del Departament de Salut
collection Scientia. Dipòsit d'Informació Digital del Departament de Salut
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869405661881696256
spelling Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?Ricci, MartinaCicala, GianpaoloCapasso, AnnaCoratti, GiorgiaFiori, StefaniaCutrona, CostanzaTIZZANO, EDUARDO F.Atròfia muscular espinal - Aspectes genèticsFenotipDISEASES::Nervous System Diseases::Central Nervous System Diseases::Spinal Cord Diseases::Muscular Atrophy, SpinalOther subheadings::Other subheadings::Other subheadings::/geneticsPHENOMENA AND PROCESSES::Genetic Phenomena::PhenotypeENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades de la médula espinal::atrofia muscular espinalOtros calificadores::Otros calificadores::Otros calificadores::/genéticaFENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipoClinical phenotype; Pediatric patients; Spinal muscular atrophyFenotipo clínico; Pacientes pediátricos; Atrofia muscular espinalFenotip clínic; Pacients pediàtrics; Atròfia muscular espinalObjective The aim of this study was to provide an overview of the clinical phenotypes associated with 4 SMN2 copies. Methods Clinical phenotypes were analyzed in all the patients with 4 SMN2 copies as part of a nationwide effort including all the Italian pediatric and adult reference centers for spinal muscular atrophy (SMA). Results The cohort includes 169 patients (102 men and 67 women) with confirmed 4 SMN2 copies (mean age at last follow-up = 36.9 ± 19 years). Six of the 169 patients were presymptomatic, 8 were classified as type II, 145 as type III (38 type IIIA and 107 type IIIB), and 8 as type IV. The remaining 2 patients were asymptomatic adults identified because of a familial case. The cross-sectional functional data showed a reduction of scores with increasing age. Over 35% of the type III and 25% of the type IV lost ambulation (mean age = 26.8 years ± 16.3 SD). The risk of loss of ambulation was significantly associated with SMA type (p < 0.0001), with patients with IIIB and IV less likely to lose ambulation compared to type IIIA. There was an overall gender effect with a smaller number of women and a lower risk for women to lose ambulation. This was significant in the adult (p = 0.009) but not in the pediatric cohort (p = 0.43). Interpretation Our results expand the existing literature on natural history of 4 SMN2 copies confirming the variability of phenotypes in untreated patients, ranging from type II to type IV and an overall reduction of functional scores with increasing age.S.C.P., G.P.C., and E.M. are members of the European Reference Network for Rare Neuromuscular Diseases (ERN EURO-NMD). G.Coratti is funded by grant from the Italian Ministry of Health (GR-2021-12374579). E.M. is funded by grant from the Italian Ministry of Health (RF-2019-12370334). M.C.P. is funded by grant from the Italian Ministry of Health (GR-2018-12365706). E.P. is funded by grant from the Italian Telethon (GUP21008). The ITASMAC registry is partly funded by Biogen and Roche.WileyInstitut Català de la Salut[Ricci M, Cicala G, Capasso A, Coratti G] Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy. Centro Clinico Nemo, Fondazione Agostino Gemelli IRCCS, Rome, Italy. [Fiori S] Department of Life Sciences and Public Health, Section of Genomic Medicine, Università Cattolica del Sacro Cuore, Rome, Italy. [Cutrona C] Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy. [Tizzano E] Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca de Medicina Genètica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, SpainVall d'Hebron Barcelona Hospital Campus202420242023info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/11351/11129Scientiareponame:Scientia. Dipòsit d'Informació Digital del Departament de Salutinstname:Departament de Salut de la Generalitat de Catalunya (DS)InglésAnnals of Neurology;94(6)https://doi.org/10.1002/ana.26788Attribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessoai:scientiasalut.gencat.cat:11351/111292026-06-12T09:38:37Z
score 15,81155

Similares en LA Referencia