Ataxia-telangiectasia (Louis-Bar syndrome): Clinical, Immunological, and Genetic Features, Progression, and Management

Abstract

Ataxia-telangiectasia (A-T) is a rare and inherited disorder resulting from the biallelic mutation of the ATM gene, which results in defects in the repair of damage to DNA and genomic instability. Clinically, it is manifested by progressive cerebellar ataxia, oculomotor abnormalities, telangiectasias, immunodeficiency and increased risk of malignancies. Neurological symptoms frequently develop during early childhood and progressively degrade, seriously affecting one's motor coordination, speech, and everyday functioning. Immunological deficits, such as low IgA and IgG subclasses, are a part of recurrent infections and chronic respiratory complications. Recent research has emphasised the wide phenotypic variability of the patients, with presentation of unusual immunological or neurological profiles, and the need for individualised evaluation of cases. Genetic studies have revealed new variants of ATM, and these variants are associated with variation in the severity of the disease and immune dysfunction. Long-term follow-up shows a long-lasting risk of hematologic malignancies, which requires a strategy of preventive surveillance. Currently, there are still no curative treatments, but supportive therapy, such as physiotherapy, immunoglobulin replacement, infection therapy, and cancer monitoring, helps people feel better and mitigate complications. Emerging research into ATM-mediated molecular pathways and biomarkers has the potential for future targeted therapies. Effective management of A-T is a multidisciplinary approach which combines neurological, immunological, oncological, and psychosocial care to optimise the outcome for the patient and his or her family