Publicação
Young-onset rapidly progressive ALS associated with heterozygous FUS mutation
| Resumo: | We report a 36-years-old Cape Verdean man who presented with respiratory insufficiency due to rapidly progressive sporadic amyotrophic lateral sclerosis (ALS), in whom FUS mutation c.1551C > G (p.Hist517Gln) in heterozygosity was identified, a finding previously described as non-pathogenic. The only previous report on this mutation was in a family from Cape Verde in which four members developed ALS; all were homozygous for the mutation. This case shows that this FUS mutation presents a highly variable penetrance and expressivity. |
|---|---|
| Autores principais: | Gromicho, Marta |
| Outros Autores: | Oliveira Santos, Miguel; Pinto, Anabela; Pronto Laborinho, Ana Catarina; Carvalho, Mamede |
| Assunto: | Amyotrophic lateral sclerosis Cape Verde FUS mutation Dominant transmission Young-onset |
| Ano: | 2017 |
| País: | Portugal |
| Tipo de documento: | artigo |
| Tipo de acesso: | acesso restrito |
| Instituição associada: | Universidade de Lisboa |
| Idioma: | inglês |
| Origem: | Repositório da Universidade de Lisboa |
| _version_ | 1866808944185311232 |
|---|---|
| author | Gromicho, Marta |
| author2 | Oliveira Santos, Miguel Pinto, Anabela Pronto Laborinho, Ana Catarina Carvalho, Mamede |
| author2_role | author author author author |
| author_facet | Gromicho, Marta Oliveira Santos, Miguel Pinto, Anabela Pronto Laborinho, Ana Catarina Carvalho, Mamede |
| author_role | author |
| contributor_name_str_mv | Repositório Científico de Acesso Aberto da ULisboa |
| country_str | PT |
| creators_json_txt | [{\"Person.name\":\"Gromicho, Marta\",\"Person.identifier.orcid\":\"0000-0003-2111-4579\"},{\"Person.name\":\"Oliveira Santos, Miguel\",\"Person.identifier.orcid\":\"0000-0002-8290-0410\"},{\"Person.name\":\"Pinto, Anabela\",\"Person.identifier.orcid\":\"0000-0001-8139-6905\"},{\"Person.name\":\"Pronto Laborinho, Ana Catarina\",\"Person.identifier.orcid\":\"0000-0002-2816-9698\"},{\"Person.name\":\"Carvalho, Mamede\",\"Person.identifier.orcid\":\"0000-0001-7556-0158\"}] |
| datacite.contributors.contributor.contributorName.fl_str_mv | Repositório Científico de Acesso Aberto da ULisboa |
| datacite.creators.creator.creatorName.fl_str_mv | Gromicho, Marta Oliveira Santos, Miguel Pinto, Anabela Pronto Laborinho, Ana Catarina Carvalho, Mamede |
| datacite.date.Accepted.fl_str_mv | 2017-01-01T00:00:00Z |
| datacite.date.available.fl_str_mv | 2022-09-08T15:10:55Z |
| datacite.date.embargoed.fl_str_mv | 2022-09-08T15:10:55Z |
| datacite.rights.fl_str_mv | http://purl.org/coar/access_right/c_16ec |
| datacite.subjects.subject.fl_str_mv | Amyotrophic lateral sclerosis Cape Verde FUS mutation Dominant transmission Young-onset |
| datacite.titles.title.fl_str_mv | Young-onset rapidly progressive ALS associated with heterozygous FUS mutation |
| dc.contributor.none.fl_str_mv | Repositório Científico de Acesso Aberto da ULisboa |
| dc.creator.none.fl_str_mv | Gromicho, Marta Oliveira Santos, Miguel Pinto, Anabela Pronto Laborinho, Ana Catarina Carvalho, Mamede |
| dc.date.Accepted.fl_str_mv | 2017-01-01T00:00:00Z |
| dc.date.available.fl_str_mv | 2022-09-08T15:10:55Z |
| dc.date.embargoed.fl_str_mv | 2022-09-08T15:10:55Z |
| dc.format.none.fl_str_mv | application/pdf |
| dc.identifier.none.fl_str_mv | http://hdl.handle.net/10451/54391 |
| dc.language.none.fl_str_mv | eng |
| dc.publisher.none.fl_str_mv | Taylor & Francis |
| dc.rights.none.fl_str_mv | http://purl.org/coar/access_right/c_16ec |
| dc.subject.none.fl_str_mv | Amyotrophic lateral sclerosis Cape Verde FUS mutation Dominant transmission Young-onset |
| dc.title.fl_str_mv | Young-onset rapidly progressive ALS associated with heterozygous FUS mutation |
| dc.type.none.fl_str_mv | http://purl.org/coar/resource_type/c_6501 |
| description | We report a 36-years-old Cape Verdean man who presented with respiratory insufficiency due to rapidly progressive sporadic amyotrophic lateral sclerosis (ALS), in whom FUS mutation c.1551C > G (p.Hist517Gln) in heterozygosity was identified, a finding previously described as non-pathogenic. The only previous report on this mutation was in a family from Cape Verde in which four members developed ALS; all were homozygous for the mutation. This case shows that this FUS mutation presents a highly variable penetrance and expressivity. |
| dirty | 0 |
| eu_rights_str_mv | restrictedAccess |
| format | article |
| fulltext.url.fl_str_mv | https://repositorio.ulisboa.pt/bitstreams/16d57b65-1f16-44cb-9633-43edc1ed7596/download |
| funding.funder.alternateName_str_mv | FCT |
| funding.funder.identifier_str_mv | http://doi.org/10.13039/501100001871 |
| funding.funder.name_str_mv | Fundação para a Ciência e a Tecnologia |
| funding.name_str_mv | 3599-PPCDT |
| id | ul_61d76049542ea2fe58cd68c35cb04061 |
| identifier.url.fl_str_mv | http://hdl.handle.net/10451/54391 |
| instacron_str | ul |
| institution | Universidade de Lisboa |
| instname_str | Universidade de Lisboa |
| language | eng |
| network_acronym_str | ul |
| network_name_str | Repositório da Universidade de Lisboa |
| oai_identifier_str | oai:repositorio.ulisboa.pt:10451/54391 |
| organization_str_mv | urn:organizationAcronym:ul |
| person_str_mv | Gromicho, Marta Gromicho, Marta https://www.ciencia-id.pt/EA1D-1979-5C3A EA1D-1979-5C3A http://orcid.org/0000-0003-2111-4579 0000-0003-2111-4579 Oliveira Santos, Miguel Oliveira Santos, Miguel https://www.ciencia-id.pt/B511-DD32-12D7 B511-DD32-12D7 http://orcid.org/0000-0002-8290-0410 0000-0002-8290-0410 Pinto, Anabela Pinto, Anabela http://orcid.org/0000-0001-8139-6905 0000-0001-8139-6905 Pronto Laborinho, Ana Catarina Pronto Laborinho, Ana Catarina https://www.ciencia-id.pt/891E-679B-B2DE 891E-679B-B2DE http://orcid.org/0000-0002-2816-9698 0000-0002-2816-9698 Carvalho, Mamede Carvalho, Mamede http://orcid.org/0000-0001-7556-0158 0000-0001-7556-0158 |
| publishDate | 2017 |
| publisher.none.fl_str_mv | Taylor & Francis |
| reponame_str | Repositório da Universidade de Lisboa |
| repository_id_str | urn:repositoryAcronym:ul |
| service_str_mv | urn:repositoryAcronym:ul |
| spelling | engTaylor & Francispt_PTWe report a 36-years-old Cape Verdean man who presented with respiratory insufficiency due to rapidly progressive sporadic amyotrophic lateral sclerosis (ALS), in whom FUS mutation c.1551C > G (p.Hist517Gln) in heterozygosity was identified, a finding previously described as non-pathogenic. The only previous report on this mutation was in a family from Cape Verde in which four members developed ALS; all were homozygous for the mutation. This case shows that this FUS mutation presents a highly variable penetrance and expressivity.application/pdfpt_PTYoung-onset rapidly progressive ALS associated with heterozygous FUS mutationPersonalGromicho, MartaDSpacehttp://dspace.org/items/c6f0ac72-fdd9-499d-87e2-f13aa1545565DSpacehttp://dspace.org/items/c6f0ac72-fdd9-499d-87e2-f13aa1545565SilvaMarta Luísa Gromicho MorgadoCiência IDhttps://www.ciencia-id.ptEA1D-1979-5C3AORCIDhttp://orcid.org0000-0003-2111-4579Scopus Author IDhttps://www.scopus.com6506583274PersonalOliveira Santos, MiguelDSpacehttp://dspace.org/items/eab02009-54a9-4518-8b22-9426433cea69DSpacehttp://dspace.org/items/eab02009-54a9-4518-8b22-9426433cea69Oliveira SantosMiguelCiência IDhttps://www.ciencia-id.ptB511-DD32-12D7ORCIDhttp://orcid.org0000-0002-8290-0410Scopus Author IDhttps://www.scopus.com57217474349PersonalPinto, AnabelaDSpacehttp://dspace.org/items/ac6330ee-bc35-45e5-9d9c-357de0c41f0bDSpacehttp://dspace.org/items/ac6330ee-bc35-45e5-9d9c-357de0c41f0bPintoAnabelaORCIDhttp://orcid.org0000-0001-8139-6905Scopus Author IDhttps://www.scopus.com7402306398PersonalPronto Laborinho, Ana CatarinaDSpacehttp://dspace.org/items/3726b674-773c-4838-b02e-da9bc38ccbe6DSpacehttp://dspace.org/items/3726b674-773c-4838-b02e-da9bc38ccbe6Pronto LaborinhoAna CatarinaCiência IDhttps://www.ciencia-id.pt891E-679B-B2DEORCIDhttp://orcid.org0000-0002-2816-9698Scopus Author IDhttps://www.scopus.com56177475200PersonalCarvalho, MamedeDSpacehttp://dspace.org/items/dd7f55d4-c2b5-4fd2-9bd1-a9542a62f58fDSpacehttp://dspace.org/items/dd7f55d4-c2b5-4fd2-9bd1-a9542a62f58fde CarvalhoMamedeORCIDhttp://orcid.org0000-0001-7556-0158Scopus Author IDhttps://www.scopus.com7101893769HostingInstitutionOrganizationalRepositório Científico de Acesso Aberto da ULisboae-mailmailto:repositorio@reitoria.ulisboa.ptrepositorio@reitoria.ulisboa.ptISSNIsPartOf2167-8421DOIIsPartOf10.1080/21678421.2017.12997622022-09-08T15:10:55Z20172017-01-01T00:00:00ZHandlehttp://hdl.handle.net/10451/54391http://purl.org/coar/access_right/c_16ecrestricted accessAmyotrophic lateral sclerosisCape VerdeFUS mutationDominant transmissionYoung-onset320225 bytesFundação para a Ciência e a TecnologiaONTology-based Web Database for Understanding Amyotrophic Lateral Sclerosis<br>3599-PPCDTCrossref Funder IDhttp://doi.org/10.13039/501100001871literaturehttp://purl.org/coar/resource_type/c_6501journal articlehttp://purl.org/coar/access_right/c_16ecapplication/pdffulltexthttps://repositorio.ulisboa.pt/bitstreams/16d57b65-1f16-44cb-9633-43edc1ed7596/downloadAmyotrophic Lateral Sclerosis and Frontotemporal Degeneration185-6451453 |
| spellingShingle | Young-onset rapidly progressive ALS associated with heterozygous FUS mutation Gromicho, Marta Amyotrophic lateral sclerosis Cape Verde FUS mutation Dominant transmission Young-onset |
| status | SINGLETON |
| subject.fl_str_mv | Amyotrophic lateral sclerosis Cape Verde FUS mutation Dominant transmission Young-onset |
| title | Young-onset rapidly progressive ALS associated with heterozygous FUS mutation |
| title_full | Young-onset rapidly progressive ALS associated with heterozygous FUS mutation |
| title_fullStr | Young-onset rapidly progressive ALS associated with heterozygous FUS mutation |
| title_full_unstemmed | Young-onset rapidly progressive ALS associated with heterozygous FUS mutation |
| title_short | Young-onset rapidly progressive ALS associated with heterozygous FUS mutation |
| title_sort | Young-onset rapidly progressive ALS associated with heterozygous FUS mutation |
| topic | Amyotrophic lateral sclerosis Cape Verde FUS mutation Dominant transmission Young-onset |
| topic_facet | Amyotrophic lateral sclerosis Cape Verde FUS mutation Dominant transmission Young-onset |
| url | http://hdl.handle.net/10451/54391 |
| visible | 1 |