Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias
dc.contributor.author | Giordani, Gabriela Marchisio | pt_BR |
dc.contributor.author | Lima, Fabricio Diniz de | pt_BR |
dc.contributor.author | Fussiger, Helena | pt_BR |
dc.contributor.author | González Salazar, Carelis Del Valle | pt_BR |
dc.contributor.author | Donis, Karina Carvalho | pt_BR |
dc.contributor.author | Freua, Fernando | pt_BR |
dc.contributor.author | Ortega, Roberta Paiva Magalhões | pt_BR |
dc.contributor.author | Freitas, Julian Letícia de | pt_BR |
dc.contributor.author | Barsottini, Orlando Graziani Povoas | pt_BR |
dc.contributor.author | Rosemberg, Sergio | pt_BR |
dc.contributor.author | Kok, Fernando | pt_BR |
dc.contributor.author | Pedroso, José Luiz | pt_BR |
dc.contributor.author | França Júnior, Marcondes Cavalcante | pt_BR |
dc.contributor.author | Saute, Jonas Alex Morales | pt_BR |
dc.date.accessioned | 2022-10-27T04:52:41Z | pt_BR |
dc.date.issued | 2021 | pt_BR |
dc.identifier.issn | 2045-2322 | pt_BR |
dc.identifier.uri | http://hdl.handle.net/10183/250494 | pt_BR |
dc.description.abstract | The present study aimed to characterize clinical and molecular data of a large cohort of subjects with childhood-onset hereditary spastic paraplegias (HSPs). A multicenter historical cohort was performed at five centers in Brazil, in which probands and affected relatives' data from consecutive families with childhood-onset HSP (onset < 12 years-old) were reviewed from 2011 to 2020. One hundred and six individuals (83 families) with suspicion of childhood-onset HSP were evaluated, being 68 (50 families) with solved genetic diagnosis, 6 (5 families) with candidate variants in HSP-related genes and 32 (28 families) with unsolved genetic diagnosis. The most common childhood-onset subtype was SPG4, 11/50 (22%) families with solved genetic diagnosis; followed by SPG3A, 8/50 (16%). Missense pathogenic variants in SPAST were found in 54.5% of probands, favoring the association of this type of variant to childhood-onset SPG4. Survival curves to major handicap and cross-sectional Spastic Paraplegia Rating Scale progressions confirmed the slow neurological deterioration in SPG4 and SPG3A. Most common complicating features and twenty variants not previously described in HSP-related genes were reported. These results are fundamental to understand the molecular and clinical epidemiology of childhood-onset HSP, which might help on differential diagnosis, patient care and guiding future collaborative trials for these rare diseases. | en |
dc.format.mimetype | application/pdf | pt_BR |
dc.language.iso | eng | pt_BR |
dc.relation.ispartof | Scientific reports. London. Vol. 11 (2021), 22248, 9 p. | pt_BR |
dc.rights | Open Access | en |
dc.subject | Predisposição genética para doença | pt_BR |
dc.subject | Paraplegia espástica hereditária | pt_BR |
dc.subject | Vigilância da população | pt_BR |
dc.title | Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias | pt_BR |
dc.type | Artigo de periódico | pt_BR |
dc.identifier.nrb | 001151751 | pt_BR |
dc.type.origin | Estrangeiro | pt_BR |
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