Prevalence and Diagnostic Journey of Friedreich’s Ataxia in the State of São Paulo, Brazil

Author:

Machado Daiana Suelen,Viana Celiana Figueiredo,Pedroso José Luiz,Barsottini Orlando Graziani Povoas,Tomaselli Pedro José,Marques Wilson,Rezende Thiago J. R.,Martinez Alberto R. M.,França Marcondes Cavalcante

Funder

Fundação de Amparo à Pesquisa do Estado de São Paulo

Publisher

Springer Science and Business Media LLC

Reference23 articles.

1. Pandolfo M. Friedreich ataxia. Arch Neurol. 2008;65:1296–303.

2. Ueber FN. Degenerative Atrophie der Spinalen Hinterstränge. Arch Pathol Anat Phys Klin Med. 1863;26:391–419.

3. Campuzano V, Montermini L, Moltò MD, Pianese L. Friedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1979;1996(7):271–1423.

4. Cook A, Giunti P. Friedreich’s ataxia: clinical features, pathogenesis and management. Br Med Bull. 2017;124:19–30 (Oxford University Press).

5. Martinez ARM, Moro A, Abrahao A, Faber I, Borges CR, Rezende TJR, et al. Nonneurological involvement in late-onset Friedreich Ataxia (LOFA): exploring the phenotypes. Cerebellum. 2017;16(1):253–6.

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