Involvement of cranial nerves in ATTR Ile127Val amyloidosis

Registro completo de metadados
MetadadosDescriçãoIdioma
Autor(es): dc.contributorFederal University of Vale do São Francisco-
Autor(es): dc.contributorEstacio College-
Autor(es): dc.contributorBahiana School of Medicine and Public Health-
Autor(es): dc.contributorUniversidade Estadual Paulista (UNESP)-
Autor(es): dc.contributorSão Rafael Hospital-
Autor(es): dc.creatorBatista, Jemima A. da Silva-
Autor(es): dc.creatorCarrera, Luiza R.-
Autor(es): dc.creatorViriato, Adriele R.F.-
Autor(es): dc.creatorNovaes, Marco Antônio C.-
Autor(es): dc.creatorMorais, Renato José L. de-
Autor(es): dc.creatorOliveira, Francisco T.O.-
Autor(es): dc.creatorMarques, Wilson-
Autor(es): dc.creatorMachado-Costa, Marcela Câmara-
Data de aceite: dc.date.accessioned2025-08-21T23:44:04Z-
Data de disponibilização: dc.date.available2025-08-21T23:44:04Z-
Data de envio: dc.date.issued2023-03-01-
Data de envio: dc.date.issued2023-03-01-
Data de envio: dc.date.issued2022-07-01-
Fonte completa do material: dc.identifierhttp://dx.doi.org/10.1016/j.ejmg.2022.104524-
Fonte completa do material: dc.identifierhttp://hdl.handle.net/11449/240099-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/11449/240099-
Descrição: dc.descriptionThe involvement of cranial nerves is rare in ATTR amyloidosis. However, involvement has occasionally been reported in the p.Val50Met variant, the most commonly studied worldwide. On the other hand, in ATTR p.Ile127Val, an uncommon variant, the cranial nerves IX, X, and XII, are frequently involved. Here, we present a series of cases of ATTR Ile107Val amyloidosis, in which the involvement of multiple cranial nerves V, VII, IX, X, XI, and XII seems to be routinely included in phenotypic manifestations in different phases of clinical evolution, contributing significantly to the resulting disabilities caused by this variant. The recognition of these manifestations enables earlier diagnoses and reduces complications from the involvement of cranial nerves, such as dysphagia and respiratory impairment, which greatly increase the burden caused by the disease and significantly limit the quality of life.-
Descrição: dc.descriptionFederal University of Vale do São Francisco, Pernambuco-
Descrição: dc.descriptionEstacio College, Bahia-
Descrição: dc.descriptionBahiana School of Medicine and Public Health, Bahia-
Descrição: dc.descriptionSão Paulo State University School of Medicine of Ribeirão Preto-
Descrição: dc.descriptionSão Rafael Hospital-
Descrição: dc.descriptionSão Paulo State University School of Medicine of Ribeirão Preto-
Idioma: dc.languageen-
Relação: dc.relationEuropean Journal of Medical Genetics-
???dc.source???: dc.sourceScopus-
Palavras-chave: dc.subjectAmyloidosis-
Palavras-chave: dc.subjectATTR-
Palavras-chave: dc.subjectBulbar involvement-
Palavras-chave: dc.subjectCranial nerve-
Palavras-chave: dc.subjectIle107Val-
Palavras-chave: dc.subjectPolyneuropathy-
Título: dc.titleInvolvement of cranial nerves in ATTR Ile127Val amyloidosis-
Tipo de arquivo: dc.typelivro digital-
Aparece nas coleções:Repositório Institucional - Unesp

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