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.

KEYWORDS:

• Ataxia-telangiectasia
• assessment and rating of ataxia
• international cooperative ataxia rating scale
• liver disease
• insulin resistance
• nutritional status

Author contributions

TLM Barreto: Acquisition of data; drafting of the manuscript; statistical analysis and interpretation of data of the manuscript. IR Raslan: Acquisition of data and critical revision for important intellectual content. KK Trajano: Acquisition of neurological data. FA Maggi: Acquisition of neurological data.

JL Pedroso: Study supervision and critical revision for important intellectual content. OGP Barsottini: Study supervision and critical revision for important intellectual content. LFAFonseca: Carried out the biochemical analysis. AC Ferreira: Carried out the biochemical analysis. CS Aranda: Study supervision and critical revision for important intellectual content. ROS Sarni: Concept and design development; drafting of the manuscript; study supervision and critical revision for important intellectual content.

All authors read and approved the final manuscript.

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Reviewer disclosure

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

This paper was not funded