Correlation between neurological features, nutritional status, and metabolic changes in patients with Ataxia-telangiectasia

ABSTRACT Background: Ataxia-telangiectasia (AT) is an autosomal recessive neurodegenerative disorder caused by variants of ATM (ataxia telangiectasia mutated) gene. These patients develop metabolic changes over time. We aimed to assess the correlation between neurological features, nutritional status, and metabolic changes in AT patients. Methods: Cross-sectional study with prospective data from 25 AT patients aged 5 to 31 years. Results: Significant correlations were found between the scores on the International Cooperative Ataxia Rating Scale (ICARS) and age (r = 0.748; p < 0.001), gamma glutamyl transferase (GGT) (r = 0.743; p < 0.001), insulin levels (r = 0.520; p = 0.016) and the Homeostasis Model Assessment for Insulin Resistance (HOMA-IR) index (r = 0.585; p = 0.005) as well as the scores on the Assessment and Rating of Ataxia (SARA) and age (r = 0.704; p < 0.001), GGT (r = 0.701; p < 0.001), insulin levels (r = 0.706; p < 0.001) and HOMA-IR index (r = 0.764; p < 0.001). Conclusions: The relevant correlation between severity of ataxia and disease progression with metabolic changes such as liver function impairment and insulin resistance reinforce the importance to monitoring metabolic changes and evaluate nutritional status in these patients.