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

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 in AT patients.Methods: Cross-sectional study with prospective data from 25 aged 5 31 years.Results: Significant correlations were found scores on International Cooperative Ataxia Rating Scale (ICARS) age (r = 0.748; p < 0.001), gamma glutamyl transferase (GGT) 0.743; insulin levels 0.520; 0.016) Homeostasis Model Assessment for Insulin Resistance (HOMA-IR) index 0.585; 0.005) as well (SARA) 0.704; GGT 0.701; 0.706; 0.001) HOMA-IR 0.764; 0.001).Conclusions: The relevant severity ataxia disease progression such liver function impairment resistance reinforce importance monitoring evaluate status these patients.