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CC BY 4.0 · Arq Neuropsiquiatr 2024; 82(08): s00441787800
DOI: 10.1055/s-0044-1787800
Original Article

Ataxias in Brazil: 17 years of experience in an ataxia center

Ataxias no Brasil: 17 anos de experiência em um centro de ataxias
Breno Kazuo Massuyama 
1   Universidade Federal de São Paulo, Escola Paulista de Medicina, Disciplina de Neurologia Clínica, Setor de Ataxias, São Paulo SP, Brazil.
,
Maria Thereza Drumond Gama 
1   Universidade Federal de São Paulo, Escola Paulista de Medicina, Disciplina de Neurologia Clínica, Setor de Ataxias, São Paulo SP, Brazil.
,
Thiago Yoshinaga Tonholo Silva 
1   Universidade Federal de São Paulo, Escola Paulista de Medicina, Disciplina de Neurologia Clínica, Setor de Ataxias, São Paulo SP, Brazil.
,
Pedro Braga-Neto 
2   Universidade Federal do Ceará, Faculdade de Medicina, Departamento de Clínica Médica, Fortaleza CE, Brazil.
3   Universidade Estadual do Ceará, Centro de Ciências da Saúde, Fortaleza CE, Brazil.
,
José Luiz Pedroso 
1   Universidade Federal de São Paulo, Escola Paulista de Medicina, Disciplina de Neurologia Clínica, Setor de Ataxias, São Paulo SP, Brazil.
,
Orlando Graziani Povoas Barsottini 
1   Universidade Federal de São Paulo, Escola Paulista de Medicina, Disciplina de Neurologia Clínica, Setor de Ataxias, São Paulo SP, Brazil.
› Author Affiliations Support The author PBN received funding from Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) as research grant funding (productivity scholarship). The authors declare that there are no additional disclosures to report.
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Abstract

Background Cerebellar ataxias comprise sporadic and genetic etiologies. Ataxia may also be a presenting feature in hereditary spastic paraplegias (HSPs).

Objective To report a descriptive analysis of the frequency of different forms of cerebellar ataxia evaluated over 17 years in the Ataxia Unit of Universidade Federal de São Paulo, Brazil.

Methods Charts of patients who were being followed from January 2007 to December 2023 were reviewed. We used descriptive statistics to present our results as frequencies and percentages of the overall analysis. Diagnosed patients were classified according to the following 9 groups: sporadic ataxia, spinocerebellar ataxias (SCAs), other autosomal dominant cerebellar ataxias, autosomal recessive cerebellar ataxias (ARCAs), mitochondrial ataxias, congenital ataxias, X-linked ataxias, HSPs, and others.

Results There were 1,332 patients with ataxias or spastic paraplegias. Overall, 744 (55.85%) of all cases were successfully diagnosed: 101 sporadic ataxia, 326 SCAs, 20 of other autosomal dominant cerebellar ataxias, 186 ARCAs, 6 X-linked ataxias, 2 mitochondrial ataxias, 4 congenital ataxias, and 51 HSPs.

Conclusion This study describes the frequency of cerebellar ataxias in a large group of patients followed for the past 17 years, of whom 55% obtained a definitive clinical or molecular diagnosis. Future demographic surveys in Brazil or Latin American remain necessary.

Resumo

Antecedentes Ataxias cerebelares compreendem as etiologias esporádicas e genéticas. Ataxia também pode ser uma característica das paraplegias espásticas hereditárias (HSPs).

Objetivo Relatar uma análise descritiva da frequência das diferentes formas de ataxias cerebelares avaliadas ao longo de 17 anos no Setor da Ataxias da Universidade Federal de São Paulo, Brasil.

Métodos Prontuários de pacientes acompanhados de janeiro de 2007 a dezembro de 2023 foram revisados. Usamos análise descritiva para apresentar nossos resultados como frequências e percentuais. Os pacientes foram classificados de acordo com os 9 grupos seguintes: ataxias esporádicas, ataxias espinocerebelares (SCA), outras ataxias cerebelares autossômicas dominantes, ataxias cerebelares autossômicas recessivas (ARCA), ataxias mitocondriais, ataxias congênitas, ataxias ligadas ao X, PEH e outros.

Resultados Foram avaliados 1.332 pacientes. Desse total, 744 tiveram um diagnóstico definitivo: 101 ataxias esporádicas, 326 SCA, 20 outras ataxias cerebelares autossômicas dominantes, 186 (ARCA), 6 ataxias ligadas ao X, 2 ataxias mitocondriais, 4 ataxias congênitas e 51 HSP.

Conclusão Esse estudo descreve a frequência e a etiologia das ataxias em um grande grupo de pacientes acompanhados nos últimos 17 anos, dos quais 55% obtiveram diagnóstico clínico ou molecular definitivos. Estudos demográficos futuros do Brasil ou da América Latina continuam sendo necessários.

Keywords

Ataxia - Demography - Movement Disorders

Palavras-chave

Ataxia - Spastic Paraplegia, Hereditary - Paraplegia Espástica Hereditária - Demografia - Transtornos dos Movimentos

Authors' Contributions

BKM, MTDG: conceptualization, data curation, formal analysis, investigation, methodology, and writing of the original draft; TYT: data curation, formal analysis, and investigation; PBN, JLP, OGPB: project administration, supervision, and writing – review and editing.




Publication History

Received: 10 April 2024

Accepted: 25 April 2024

Article published online:
04 July 2024

© 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/)

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Bibliographical Record
Breno Kazuo Massuyama, Maria Thereza Drumond Gama, Thiago Yoshinaga Tonholo Silva, Pedro Braga-Neto, José Luiz Pedroso, Orlando Graziani Povoas Barsottini. Ataxias in Brazil: 17 years of experience in an ataxia center. Arq Neuropsiquiatr 2024; 82: s00441787800.
DOI: 10.1055/s-0044-1787800
 

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