Article
Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.
Scientific reports - 15 Nov 2021
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
Abstract excerpt
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...
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