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Neurologic outcomes in Friedreich ataxia: Study of a single-site cohort

OBJECTIVE: To investigate the pattern of progression of neurologic impairment in Friedreich ataxia (FRDA) and identify patients with fast disease progression as detected by clinical rating scales. METHODS: Clinical, demographic, and genetic data were analyzed from 54 patients with FRDA included at t...

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Autor principal: Pandolfo, Massimo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7164967/
https://www.ncbi.nlm.nih.gov/pubmed/32337342
http://dx.doi.org/10.1212/NXG.0000000000000415
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author Pandolfo, Massimo
author_facet Pandolfo, Massimo
author_sort Pandolfo, Massimo
collection PubMed
description OBJECTIVE: To investigate the pattern of progression of neurologic impairment in Friedreich ataxia (FRDA) and identify patients with fast disease progression as detected by clinical rating scales. METHODS: Clinical, demographic, and genetic data were analyzed from 54 patients with FRDA included at the Brussels site of the European Friedreich's Ataxia Consortium for Translational Studies, with an average prospective follow-up of 4 years. RESULTS: Afferent ataxia predated other features of FRDA, followed by cerebellar ataxia and pyramidal weakness. The Scale for the Assessment and Rating of Ataxia (SARA) best detected progression in ambulatory patients and in the first 20 years of disease duration but did not effectively capture progression in advanced disease. Dysarthria, sitting, and upper limb coordination items kept worsening after loss of ambulation. Eighty percent of patients needing support to walk lost ambulation within 2 years. Age at onset had a strong influence on progression of neurologic and functional deficits, which was maximal in patients with symptom onset before age 8 years. All these patients became unable to walk by 15 years after onset, significantly earlier than patients with later onset. Progression in the previous 1 or 2 years was not predictive of progression in the subsequent year. CONCLUSIONS: The SARA is a sensitive outcome measure in ambulatory patients with FRDA and has an excellent correlation with functional capabilities. Ambulatory patients with onset before age 8 years showed the fastest measurable worsening. Loss of ambulation in high-risk patients is a disease milestone that should be considered as an end point in clinical trials.
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spelling pubmed-71649672020-04-24 Neurologic outcomes in Friedreich ataxia: Study of a single-site cohort Pandolfo, Massimo Neurol Genet Article OBJECTIVE: To investigate the pattern of progression of neurologic impairment in Friedreich ataxia (FRDA) and identify patients with fast disease progression as detected by clinical rating scales. METHODS: Clinical, demographic, and genetic data were analyzed from 54 patients with FRDA included at the Brussels site of the European Friedreich's Ataxia Consortium for Translational Studies, with an average prospective follow-up of 4 years. RESULTS: Afferent ataxia predated other features of FRDA, followed by cerebellar ataxia and pyramidal weakness. The Scale for the Assessment and Rating of Ataxia (SARA) best detected progression in ambulatory patients and in the first 20 years of disease duration but did not effectively capture progression in advanced disease. Dysarthria, sitting, and upper limb coordination items kept worsening after loss of ambulation. Eighty percent of patients needing support to walk lost ambulation within 2 years. Age at onset had a strong influence on progression of neurologic and functional deficits, which was maximal in patients with symptom onset before age 8 years. All these patients became unable to walk by 15 years after onset, significantly earlier than patients with later onset. Progression in the previous 1 or 2 years was not predictive of progression in the subsequent year. CONCLUSIONS: The SARA is a sensitive outcome measure in ambulatory patients with FRDA and has an excellent correlation with functional capabilities. Ambulatory patients with onset before age 8 years showed the fastest measurable worsening. Loss of ambulation in high-risk patients is a disease milestone that should be considered as an end point in clinical trials. Wolters Kluwer 2020-03-20 /pmc/articles/PMC7164967/ /pubmed/32337342 http://dx.doi.org/10.1212/NXG.0000000000000415 Text en Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND) (http://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
spellingShingle Article
Pandolfo, Massimo
Neurologic outcomes in Friedreich ataxia: Study of a single-site cohort
title Neurologic outcomes in Friedreich ataxia: Study of a single-site cohort
title_full Neurologic outcomes in Friedreich ataxia: Study of a single-site cohort
title_fullStr Neurologic outcomes in Friedreich ataxia: Study of a single-site cohort
title_full_unstemmed Neurologic outcomes in Friedreich ataxia: Study of a single-site cohort
title_short Neurologic outcomes in Friedreich ataxia: Study of a single-site cohort
title_sort neurologic outcomes in friedreich ataxia: study of a single-site cohort
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7164967/
https://www.ncbi.nlm.nih.gov/pubmed/32337342
http://dx.doi.org/10.1212/NXG.0000000000000415
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