Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview

Neuronal ceroid lipofuscinoses (NCLs) comprise 13 hereditary neurodegenerative pathologies of very low frequency that affect individuals of all ages around the world. All NCLs share a set of symptoms that are similar to other diseases. The exhaustive collection of data from diverse sources (clinical...

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Detalhes bibliográficos
Autores: Guelbert, Guillermo Ariel, Venier, Ana Clara, Cismondi, Inés Adriana, Becerra, Adriana Berónica, Vazquez, Juan Carlos, Fernandez, Elmer Andres, de Paul, Ana Lucia, Guelbert, Norberto Bernardo, Noher, Rita Ines, Pesaola, Favio Nicolas
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2022
País:Argentina
Recursos:Consejo Nacional de Investigaciones Científicas y Técnicas
Repositorio:CONICET Digital (CONICET)
Idioma:inglés
OAI Identifier:oai:ri.conicet.gov.ar:11336/200998
Acesso em linha:http://hdl.handle.net/11336/200998
Access Level:acceso abierto
Palavra-chave:EPIDEMIOLOGY
GENOTYPE
NEURONAL CEROID LIPOFUSCINOSES (NCL)
PHENOTYPE
SOUTH AMERICA-CARIBBEAN
https://purl.org/becyt/ford/1.2
https://purl.org/becyt/ford/1
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network_acronym_str AR
network_name_str Argentina
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dc.title.none.fl_str_mv Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview
title Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview
spellingShingle Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview
Guelbert, Guillermo Ariel
EPIDEMIOLOGY
GENOTYPE
NEURONAL CEROID LIPOFUSCINOSES (NCL)
PHENOTYPE
SOUTH AMERICA-CARIBBEAN
https://purl.org/becyt/ford/1.2
https://purl.org/becyt/ford/1
title_short Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview
title_full Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview
title_fullStr Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview
title_full_unstemmed Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview
title_sort Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview
dc.creator.none.fl_str_mv Guelbert, Guillermo Ariel
Venier, Ana Clara
Cismondi, Inés Adriana
Becerra, Adriana Berónica
Vazquez, Juan Carlos
Fernandez, Elmer Andres
de Paul, Ana Lucia
Guelbert, Norberto Bernardo
Noher, Rita Ines
Pesaola, Favio Nicolas
author Guelbert, Guillermo Ariel
author_facet Guelbert, Guillermo Ariel
Venier, Ana Clara
Cismondi, Inés Adriana
Becerra, Adriana Berónica
Vazquez, Juan Carlos
Fernandez, Elmer Andres
de Paul, Ana Lucia
Guelbert, Norberto Bernardo
Noher, Rita Ines
Pesaola, Favio Nicolas
author_role author
author2 Venier, Ana Clara
Cismondi, Inés Adriana
Becerra, Adriana Berónica
Vazquez, Juan Carlos
Fernandez, Elmer Andres
de Paul, Ana Lucia
Guelbert, Norberto Bernardo
Noher, Rita Ines
Pesaola, Favio Nicolas
author2_role author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv EPIDEMIOLOGY
GENOTYPE
NEURONAL CEROID LIPOFUSCINOSES (NCL)
PHENOTYPE
SOUTH AMERICA-CARIBBEAN
https://purl.org/becyt/ford/1.2
https://purl.org/becyt/ford/1
topic EPIDEMIOLOGY
GENOTYPE
NEURONAL CEROID LIPOFUSCINOSES (NCL)
PHENOTYPE
SOUTH AMERICA-CARIBBEAN
https://purl.org/becyt/ford/1.2
https://purl.org/becyt/ford/1
description Neuronal ceroid lipofuscinoses (NCLs) comprise 13 hereditary neurodegenerative pathologies of very low frequency that affect individuals of all ages around the world. All NCLs share a set of symptoms that are similar to other diseases. The exhaustive collection of data from diverse sources (clinical, genetic, neurology, ophthalmology, etc.) would allow being able in the future to define this group with greater precision for a more efficient diagnostic and therapeutic approach. Despite the large amount of information worldwide, a detailed study of the characteristics of the NCLs in South America and the Caribbean region (SA&C) has not yet been done. Here, we aim to present and analyse the multidisciplinary evidence from all the SA&C with qualitative weighting and biostatistical evaluation of the casuistry. Seventy-one publications from seven countries were reviewed, and data from 261 individuals (including 44 individuals from the Cordoba cohort) were collected. Each NCL disease, as well as phenotypical and genetic data were described and discussed in the whole group. The CLN2, CLN6, and CLN3 disorders are the most frequent in the region. Eighty-seven percent of the individuals were 10 years old or less at the onset of symptoms. Seizures were the most common symptom, both at onset (51%) and throughout the disease course, followed by language (16%), motor (15%), and visual impairments (11%). Although symptoms were similar in all NCLs, some chronological differences could be observed. Sixty DNA variants were described, ranging from single nucleotide variants to large chromosomal deletions. The diagnostic odyssey was probably substantially decreased after medical education activities promoted by the pharmaceutical industry and parent organizations in some SA&C countries. There is a statistical deviation in the data probably due to the approval of the enzyme replacement therapy for CLN2 disease, which has led to a greater interest among the medical community for the early description of this pathology. As a general conclusion, it became clear in this work that the combined bibliographical/retrospective evaluation approach allowed a general overview of the multidisciplinary components and the epidemiological tendencies of NCLs in the SA&C region.
publishDate 2022
dc.date.none.fl_str_mv 2022-08
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/11336/200998
Guelbert, Guillermo Ariel; Venier, Ana Clara; Cismondi, Inés Adriana; Becerra, Adriana Berónica; Vazquez, Juan Carlos; et al.; Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview; Frontiers Media; Frontiers in Neurology; 13; 8-2022; 1-12
1664-2295
CONICET Digital
CONICET
url http://hdl.handle.net/11336/200998
identifier_str_mv Guelbert, Guillermo Ariel; Venier, Ana Clara; Cismondi, Inés Adriana; Becerra, Adriana Berónica; Vazquez, Juan Carlos; et al.; Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview; Frontiers Media; Frontiers in Neurology; 13; 8-2022; 1-12
1664-2295
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.frontiersin.org/articles/10.3389/fneur.2022.920421/full
info:eu-repo/semantics/altIdentifier/doi/10.3389/fneur.2022.920421
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Frontiers Media
publisher.none.fl_str_mv Frontiers Media
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
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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spelling Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overviewGuelbert, Guillermo ArielVenier, Ana ClaraCismondi, Inés AdrianaBecerra, Adriana BerónicaVazquez, Juan CarlosFernandez, Elmer Andresde Paul, Ana LuciaGuelbert, Norberto BernardoNoher, Rita InesPesaola, Favio NicolasEPIDEMIOLOGYGENOTYPENEURONAL CEROID LIPOFUSCINOSES (NCL)PHENOTYPESOUTH AMERICA-CARIBBEANhttps://purl.org/becyt/ford/1.2https://purl.org/becyt/ford/1Neuronal ceroid lipofuscinoses (NCLs) comprise 13 hereditary neurodegenerative pathologies of very low frequency that affect individuals of all ages around the world. All NCLs share a set of symptoms that are similar to other diseases. The exhaustive collection of data from diverse sources (clinical, genetic, neurology, ophthalmology, etc.) would allow being able in the future to define this group with greater precision for a more efficient diagnostic and therapeutic approach. Despite the large amount of information worldwide, a detailed study of the characteristics of the NCLs in South America and the Caribbean region (SA&C) has not yet been done. Here, we aim to present and analyse the multidisciplinary evidence from all the SA&C with qualitative weighting and biostatistical evaluation of the casuistry. Seventy-one publications from seven countries were reviewed, and data from 261 individuals (including 44 individuals from the Cordoba cohort) were collected. Each NCL disease, as well as phenotypical and genetic data were described and discussed in the whole group. The CLN2, CLN6, and CLN3 disorders are the most frequent in the region. Eighty-seven percent of the individuals were 10 years old or less at the onset of symptoms. Seizures were the most common symptom, both at onset (51%) and throughout the disease course, followed by language (16%), motor (15%), and visual impairments (11%). Although symptoms were similar in all NCLs, some chronological differences could be observed. Sixty DNA variants were described, ranging from single nucleotide variants to large chromosomal deletions. The diagnostic odyssey was probably substantially decreased after medical education activities promoted by the pharmaceutical industry and parent organizations in some SA&C countries. There is a statistical deviation in the data probably due to the approval of the enzyme replacement therapy for CLN2 disease, which has led to a greater interest among the medical community for the early description of this pathology. As a general conclusion, it became clear in this work that the combined bibliographical/retrospective evaluation approach allowed a general overview of the multidisciplinary components and the epidemiological tendencies of NCLs in the SA&C region.Fil: Guelbert, Guillermo Ariel. Hospital de Niños de la Santísima Trinidad; Argentina. Gobierno de la Provincia de Córdoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad; ArgentinaFil: Venier, Ana Clara. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Investigaciones en Ciencias de la Salud. Universidad Nacional de Córdoba. Instituto de Investigaciones en Ciencias de la Salud; Argentina. Universidad Nacional de Córdoba. Facultad de Medicina; Argentina. Gobierno de la Provincia de Córdoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad; ArgentinaFil: Cismondi, Inés Adriana. Gobierno de la Provincia de Córdoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad; Argentina. Universidad Nacional de Córdoba; ArgentinaFil: Becerra, Adriana Berónica. Gobierno de la Provincia de Córdoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad; ArgentinaFil: Vazquez, Juan Carlos. Universidad Católica de Córdoba; ArgentinaFil: Fernandez, Elmer Andres. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro de Investigación y Desarrollo en Inmunología y Enfermedades Infecciosas. Universidad Católica de Córdoba. Centro de Investigación y Desarrollo en Inmunología y Enfermedades Infecciosas; Argentina. Universidad Nacional de Córdoba. Facultad de Ciencias Exactas, Físicas y Naturales; ArgentinaFil: de Paul, Ana Lucia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Investigaciones en Ciencias de la Salud. Universidad Nacional de Córdoba. Instituto de Investigaciones en Ciencias de la Salud; Argentina. Universidad Nacional de Córdoba. Facultad de Medicina; ArgentinaFil: Guelbert, Norberto Bernardo. Gobierno de la Provincia de Córdoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad; Argentina. Universidad Católica de Córdoba. Facultad de Medicina. Clínica Universitaria Reina Fabiola; ArgentinaFil: Noher, Rita Ines. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Provincia de Córdoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad; Argentina. Universidad Nacional de Córdoba; ArgentinaFil: Pesaola, Favio Nicolas. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Provincia de Córdoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad; Argentina. Washington University in St. Louis; Estados UnidosFrontiers Media2022-08info: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/11336/200998Guelbert, Guillermo Ariel; Venier, Ana Clara; Cismondi, Inés Adriana; Becerra, Adriana Berónica; Vazquez, Juan Carlos; et al.; Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview; Frontiers Media; Frontiers in Neurology; 13; 8-2022; 1-121664-2295CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.frontiersin.org/articles/10.3389/fneur.2022.920421/fullinfo:eu-repo/semantics/altIdentifier/doi/10.3389/fneur.2022.920421info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2024-05-08T13:45:58Zoai:ri.conicet.gov.ar:11336/200998instacron: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:34982024-05-08 13:45:58.649CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
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