Related Experiment Video
Updated: May 8, 2026

Induction of Paralysis and Visual System Injury in Mice by T Cells Specific for Neuromyelitis Optica Autoantigen Aquaporin-4
Published on: August 21, 2017
[Ataxia telangiectasia. Diagnosis and follow-up in 4 cases]
César Eduardo Monterrubio Ledezma1, Alfredo Corona Rivera, Jorge Román Corona Rivera
1Laboratorio de Citogenética, Genotoxicidad y Biomonitoreo, Instituto de Genética Humana Dr. Enrique Corona Rivera, Departamento de Biología Molecular y Genómica, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, México. lucinabo@cucs.udg.mx.
Abstract:
Ataxia telangiectasia (AT) is a chromosomal instability syndrome with autosomal recessive inheritance, it is caused by more than 500 mutations of the ATM gene, which is involved in the cellular response to DNA damage. The diagnosis becomes difficult due to the evolution of the disease, their poor knowledge, and limited access to diagnostic tests. Chromosomal damage induced by ionizing radiation (IR) assay is still a sensitive method for early diagnosis, and it is essential for better management and genetic counseling. This paper shows diagnosis and follow-up in four cases with AT.
Related Concept Videos
Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation
Atherosclerosis II: Clinical Manifestations and Diagnostic Tests
Aneurysm II: Clinical Manifestations and Diagnostic Studies
