Clinical and Genetic Evaluation of Spinocerebellar Ataxia Type 10 in 16 Brazilian Families

Bernardo Machado Dias Domingues, Fábio A. Nascimento, Alex Tiburtino Meira, Adriana Moro, Salmo Raskin, Tetsuo Ashizawa, Hélio Afonso Ghizoni Teive

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder in which patients have a slowly progressive cerebellar ataxia, with dysarthria, dysphagia, and epilepsy. The aims of this study were to characterize the phenotypic expression of SCA10 and to examine its genotype-phenotype relationships. Ninety-one Brazilian patients with SCA10 from 16 families were selected. Clinical and epidemiological data were assessed by a standardized protocol, and severity of disease was measured by the Scale for the Assessment and Rating of Ataxia (SARA). The mean age of onset of symptoms was 34.8 ± 9.4 years. Sixty-two (68.2%) patients presented exclusively with pure cerebellar ataxia. Only 6 (6.6%) of the patients presented with epilepsy. Patients with epilepsy had a mean age of onset of symptoms lower than that of patients without epilepsy (23.5 ± 15.5 years vs 35.4 ± 8.7 years, p = 0.021, respectively). All cases of intention tremor were in women from one family. This family also had the lowest mean age of onset of symptoms, and a higher percentage of SCA10 cases in women. There was a positive correlation between duration of disease and severity of ataxia (rho = 0.272, p = 0.016), as quantified by SARA. We did not find a statistically significant correlation between age of onset of symptoms and expansion size (r = − 0.163, p = 0.185). The most common clinical presentation of SCA10 was pure cerebellar ataxia. Our data suggest that patients with epilepsy may have a lower age of onset of symptoms than those who do not have epilepsy. These findings and the description of a family with intention tremor in women with earlier onset of symptoms draw further attention to the phenotypic variability of SCA10.

Original languageEnglish (US)
Pages (from-to)849-854
Number of pages6
JournalCerebellum
Volume18
Issue number5
DOIs
StatePublished - Oct 1 2019

Keywords

  • Autosomal dominant cerebellar ataxia
  • Epilepsy
  • Intention tremor
  • SCA10
  • Seizure
  • Spinocerebellar ataxia

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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