Correlation Between the SARA and A-T NEST Clinical Severity Scores in Adults with Ataxia-Telangiectasia

Abstract

Ataxia-Telangiectasia (A-T) is an autosomal recessive neurodegenerative disease associated with cerebellar ataxia and extrapyramidal features. A-T has a complex and diverse phenotype with varying rates of disease progression. The development of robust natural history studies and therapeutic trials relies on the accurate recording of phenotype using relevant and validated severity of illness indexes. We compared the commonly used Scale for the Assessment and Rating of Ataxia (SARA) and the disease-specific A-T Neurological Examination Scale Toolkit (A-T NEST), in our adult A-T cohort. We found a strong correlation between A-T NEST and the established SARA score, validating the use of A-T NEST and SARA in capturing the natural history of A-T patients.

Keywords: Ataxia telangiectasia; Cerebellar ataxia; Severity of illness index.

Fig. 1

Correlation between A-T NEST and SARA. Scatter plots comparing total A-T NEST and SARA scores calculated during the same clinical encounter for A the whole A-T patient cohort (R² = 0.80, F_(1,72) = 292.8, p < 0.0001), B the classic A-T patient cohort (R² = 0.61, F_(1,30) = 46.5, p < 0.0001) and C the variant A-T patient cohort (R² = 0.86, F_(1,41) = 243.9, p < 0.0001). The coefficient of determination (R²) denoting the goodness of fit of the linear models is displayed