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Spinocerebellar ataxia in a cohort of patients from Rio de Janeiro

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A Correction to this article was published on 07 May 2022

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Abstract

Objective

The objective of this study is to describe the first series of spinocerebellar ataxia (SCA) in Rio de Janeiro, whose population has a high proportion of mixed Portuguese and African ancestry.

Methods

We reviewed the medical records of patients with progressive ataxia evaluated at the Sarah Network of Rehabilitation Hospitals (Rio de Janeiro). Clinical course, genetic tests for hereditary ataxia, brain MRI, and electroneuromyography were analyzed.

Results

SCA was confirmed in 128 individuals, one-third of African descendants. SCA3 predominated (83.6%), followed by SCA7 (7%); SCA2 (3.9%); SCA1, SCA6, and SCA8 (1.6% each); and SCA10 (0.8%). Dysphagia, pyramidal signs, and neurogenic bladder occurred frequently. Oculomotor disorders occurred with SCA3, SCA7, SCA2, and SCA1; peripheral neuropathies with SCA3 and SCA1; extrapyramidal syndromes with SCA3, SCA7, and SCA2; bilateral visual impairment with SCA7; and epilepsy with SCA10. Mobility assistance was required in 75% after 11 years and wheelchair in 25%. The Scale for the Assessment and Rating of Ataxia scores at the last follow-up varied from 2 to 37 (median = 14.50) and correlated positively with duration of the disease. In SCA3, a higher CAG repeats correlated with a lower age at onset. African ethnicity was associated with earlier onset, regardless of CAG repeats. The main brain MRI abnormality was cerebellar atrophy, isolated or associated with brainstem atrophy, “hot cross bun” sign, or brain atrophy. Linear T2 hyperintensity along the medial margin of the globus pallidus occurred in SCA3, SCA2, SCA1, and SCA7. ENMG confirmed peripheral neuropathy in SCA3 and SCA1.

Conclusion

Machado Joseph disease/SCA3 was the most frequent inherited dominant ataxia in Rio de Janeiro. This study revealed new aspects of ethnic influence in the clinical course and new MRI findings.

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Authors and Affiliations

  1. Sarah Network of Rehabilitation Hospitals - Rio de Janeiro Unit, Rio de Janeiro, Brazil

    Marina Papais Alvarenga, Luciane Coral Siciliani, Ricardo Silva Carvalho, Maria Carolina Ganimi & Patrícia Sola Penna

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  1. Marina Papais Alvarenga
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  2. Luciane Coral Siciliani
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  3. Ricardo Silva Carvalho
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  4. Maria Carolina Ganimi
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  5. Patrícia Sola Penna
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Corresponding author

Correspondence to Marina Papais Alvarenga.

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The Research Ethics Committee of the institution approved this research involving human participants (CAAE29452620.0.0000.0022).

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Participants provided written informed consent prior to participation.

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The authors declare no competing interests.

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The original online version of this article was revised: Originally, the article contains an error in Table 3. In the twentieth row/third column, "1" should be change to "-".

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Alvarenga, M.P., Siciliani, L.C., Carvalho, R.S. et al. Spinocerebellar ataxia in a cohort of patients from Rio de Janeiro. Neurol Sci 43, 4997–5005 (2022). https://doi.org/10.1007/s10072-022-06084-x

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  • DOI: https://doi.org/10.1007/s10072-022-06084-x

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