Episodic Ataxia Type 1: Natural History and Effect on Quality of Life

the CINCH Investigators

Research output: Contribution to journalArticlepeer-review


Episodic ataxia type 1 (EA1) is a rare autosomal potassium channelopathy, due to mutations in KCNA1. Patients have childhood onset of intermittent attacks of ataxia, dizziness or imbalance. In order to quantify the natural history of EA1, its effect on quality of life and in preparation for future clinical trials, we set up an international multi-centre study of EA1. We recruited thirty-three participants with EA1: twenty-three completed 1-year follow-up and eighteen completed 2-year follow-up. There was very little accumulation of disability or impairment over the course of the 2 years of the study. The outcome measures of ataxia (SARA and functional rating of ataxia) and the activities of daily living scale were largely stable over time. Self-reported health-related quality of life (SF-36) scores were lower across all domains than controls, in keeping with a chronic condition. Physical subdomain scores appeared to deteriorate over time, which seems to be driven by the female participants in the study. This is an interesting finding and warrants further study. Attacks of EA1 reported by participants in real time via an interactive voice response system showed that symptoms were not stereotyped; however, attack duration and frequency was stable between individuals. This large prospective study is the first ever completed in subjects with EA1. We document the natural history of the disorder over 2 years. These data will enable the development of outcome measures for clinical trials of treatment.

Original languageEnglish (US)
Pages (from-to)578-586
Number of pages9
Issue number4
StatePublished - Aug 2023

Bibliographical note

Funding Information:
This study/the CINCH group was supported by the National Institutes of Health [grant number 2U54NS059065]. This work was also supported by the University of Rochester [CTSA grant UL1 RR 024160 NCRR/NIH]. Research in the MRC Centre in London is supported by an MRC Centre grant [MRC Centre for Neuromuscular Diseases Centre, code G0601943] and by the UCLH NIHR Biomedical Research Centre.

Publisher Copyright:
© 2022, Crown.


  • EA1
  • Episodic ataxia type 1
  • KCNA1
  • Natural history
  • SF-36

PubMed: MeSH publication types

  • Multicenter Study
  • Journal Article


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