Predictors of survival in spinocerebellar ataxia type 2 population from Southern Italy

Neurol Sci. 2018 Nov;39(11):1857-1860. doi: 10.1007/s10072-018-3504-1. Epub 2018 Jul 21.

Abstract

One hundred-eighteen spinocerebellar ataxia type 2 patients from 35 distinct families personally observed between 1973 and 2016 were retrospectively reviewed. The time point of data collection was 1 January 2017. Thirty-one patients were confined to wheelchair. The median time to wheelchair was 21 years (95% CI, 17.5-24.6). Thirty-seven patients were deceased. The median time to death was 25 years (95% CI, 22.9-27.1). CAG repeat number and ataxia score at first visit influenced the time to wheelchair and death.

Keywords: Ataxia scale; CAG repeats; SCA2; Survival.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Ataxin-2 / genetics
  • Child
  • Female
  • Humans
  • Italy / epidemiology
  • Kaplan-Meier Estimate
  • Male
  • Middle Aged
  • Predictive Value of Tests
  • Retrospective Studies
  • Spinocerebellar Ataxias / classification
  • Spinocerebellar Ataxias / epidemiology*
  • Spinocerebellar Ataxias / genetics
  • Spinocerebellar Ataxias / mortality*
  • Trinucleotide Repeats / genetics
  • Young Adult

Substances

  • ATXN2 protein, human
  • Ataxin-2