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

Cerebellum. 2019 Oct;18(5):849-854. doi: 10.1007/s12311-019-01064-y.


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.

Keywords: Autosomal dominant cerebellar ataxia; Epilepsy; Intention tremor; SCA10; Seizure; Spinocerebellar ataxia.

MeSH terms

  • Adolescent
  • Adult
  • Ataxin-10 / genetics*
  • Brazil / epidemiology
  • DNA Repeat Expansion / genetics
  • Epilepsy / epidemiology*
  • Epilepsy / genetics*
  • Female
  • Genetic Testing / methods*
  • Humans
  • Male
  • Middle Aged
  • Spinocerebellar Ataxias / diagnosis
  • Spinocerebellar Ataxias / epidemiology*
  • Spinocerebellar Ataxias / genetics*
  • Young Adult


  • ATXN10 protein, human
  • Ataxin-10

Supplementary concepts

  • Spinocerebellar Ataxia 10