Gait Disturbances and Unspecific White Matter Hyperintensity in T2-Weighted Imaging as the First Manifestation of an Ataxia Telangiectasia

Abstract

Background: Ataxia telangiectasia (AT) is an autosomal recessive genomic instability syndrome characterized by cerebellar ataxia, immunodeficiency and cancer predisposition. Additional clinical features of AT include oculocutaneous telangiectasias, frequent bronchopulmonary infections, growth retardation, fatigue in adolescence and premature aging. Magnetic resonance imaging (MRI) studies are usually without pathology in early infancy; in childhood, cerebellar atrophy and in the second decade of life hyperintensive lesions in the white matter occur. Neurodegeneration in AT is closely associated with the absence or partial lack of the ataxia telangiectasia-mutated (ATM) kinase. ATM is a central player in maintaining cellular homeostasis.