Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias

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...

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Veröffentlicht in:	Scientific reports 2021-11, Vol.11 (1), p.22248-22248, Article 22248
Hauptverfasser:	Giordani, Gabriela Marchisio, Diniz, Fabrício, Fussiger, Helena, Gonzalez-Salazar, Carelis, Donis, Karina Carvalho, Freua, Fernando, Ortega, Roberta Paiva Magalhães, de Freitas, Julian Letícia, Barsottini, Orlando Graziani Povoas, Rosemberg, Sergio, Kok, Fernando, Pedroso, José Luiz, França, Marcondes Cavalcante, Saute, Jonas Alex Morales
Format:	Artikel
Sprache:	eng
Schlagworte:	631/208 631/208/1516 631/208/514 631/378 631/378/1689 631/378/2583 692/617 692/617/375 Adolescent Adult Age Age of Onset Alleles Ataxia Brazil - epidemiology Child Childhood Children Clinical trials Cohort Studies Collaboration Differential diagnosis Disease Disease Management Disease Susceptibility Epidemiology Female Genetic Predisposition to Disease Genetic screening Genomics Genotype Hereditary spastic paraplegia High-Throughput Nucleotide Sequencing Hospitals Humanities and Social Sciences Humans Magnetic Resonance Imaging Male Medical records multidisciplinary Mutation Paralysis Phenotype Population Surveillance Rare diseases Science Science (multidisciplinary) Spastic Paraplegia, Hereditary - diagnosis Spastic Paraplegia, Hereditary - epidemiology Spastic Paraplegia, Hereditary - etiology Spasticity Spastin - genetics Survival analysis Symptom Assessment Wheelchairs Young Adult
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Beschreibung
Zusammenfassung:	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
ISSN:	2045-2322 2045-2322
DOI:	10.1038/s41598-021-01635-2