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

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Abstract

Friedreich's Ataxia (FRDA) is the leading cause of ataxia worldwide, but data on epidemiology and diagnostic journey are scarce, particularly in Latin America. Herein we estimated the prevalence of FRDA in the most populous Brazilian state and characterized the diagnostic odyssey of the disease. We received anonymized data of patients with FRDA from advocacy groups and physicians. Prevalence was estimated dividing the number of patients by the population of the state as reported in the last census. Patients were invited to answer an online survey to describe clinical data and diagnostic journey of the disease. FRDA estimated prevalence was 0.367:100,000, with a slight predominance of women (58.2% vs 41.7%). One hundred and four patients answered the survey (mean age of 37.3 ± 13.8 years; 75.9% classical and 24.0% late onset). On average, 6.2 ± 4.1 physicians were visited before reaching the diagnosis. Mean diagnostic delay was 7.8 ± 6.7 years; no difference between classical and LOFA groups was found. Most of the patients reported unsteadiness and gait abnormalities as the first symptom. Neurologists and orthopedical surgeons were the main specialties first sought by patients. We found a prevalence of 0.36:100,000 for FRDA in the state of São Paulo, Brazil. The disease is characterized by remarkable diagnostic delay, with no relevant differences between classical and LOFA patients.

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Data Availability

No datasets were generated or analysed during the current study.

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Acknowledgements

The authors report no conflict of interest regarding this research.

Funding

This study was funded by Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) grant # 2013/07559-3 (to MCFJ).

Author information

Authors and Affiliations

  1. Department of Neurology, School of Medical Sciences – University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo, 126, Cidade Universitária “Zeferino Vaz”, Campinas, SP, 13083-887, Brazil

    Daiana Suelen Machado, Thiago J. R. Rezende, Alberto R. M. Martinez & Marcondes Cavalcante França Jr

  2. Ataxia Unit, Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil

    Celiana Figueiredo Viana, José Luiz Pedroso & Orlando Graziani Povoas Barsottini

  3. Department of Neuroscience and Behavioural Sciences, School of Medicine – University of São Paulo (USP) of Ribeirão Preto, Ribeirão Preto, SP, Brazil

    Pedro José Tomaselli & Wilson Marques Jr

Authors
  1. Daiana Suelen Machado
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  2. Celiana Figueiredo Viana
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  3. José Luiz Pedroso
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  4. Orlando Graziani Povoas Barsottini
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  5. Pedro José Tomaselli
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  6. Wilson Marques Jr
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  7. Thiago J. R. Rezende
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  8. Alberto R. M. Martinez
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  9. Marcondes Cavalcante França Jr
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Contributions

(1) Research project: A. Conception, B. Organization, C. Execution; (2) Statistical analysis: A. Design, B. Execution, C. Review and critique; (3) Manuscript: A. Writing of the first draft, B. Review and critique.

D.S.M.: 1, 2, 3A

C.F.V.: 1C, 2C, 3B

J.L.P.: 1A, 1B, 2C, 3B

O.G.P.B.: 1A, 1B, 2C, 3B

P.J.T.: 1A, 1B, 2C, 3B

W.M.Jr.: 1A, 1B, 2C, 3B

T.J.R.R.: 1A, 1B, 2C, 3B

A.R.M.M.: 1A, 1B, 2C, 3B

M.C.F.Jr.: 1, 2A, 2C, 3B

Corresponding author

Correspondence to Marcondes Cavalcante França Jr.

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Ethical Approval

This study was conducted according to the declaration of Helsinki. It was approved by our institution Research Ethics Committee (Comitê de Ética em Pesquisa – UNICAMP) under registration number 55719722.2.0000.5404. All patients signed (in person or electronically) an informed consent before any study related procedure.

Competing Interests

The authors declare no competing interests.

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Machado, D.S., Viana, C.F., Pedroso, J.L. et al. Prevalence and Diagnostic Journey of Friedreich’s Ataxia in the State of São Paulo, Brazil. Cerebellum (2024). https://doi.org/10.1007/s12311-024-01687-w

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  • DOI: https://doi.org/10.1007/s12311-024-01687-w

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