Abstract
This article summarizes evident and recent findings on the characteristics of the
neurological phenotype in ataxia telangiectasia (AT), reviews neuropathological and
neuroradiological findings, and outlines therapeutic treatment options. In addition,
this review offers an overview of current hypotheses on mechanisms of neurodegeneration
in AT and discusses their relevance in clinical neurology. The obvious features of
neurodegeneration in AT—cerebellar ataxia and dysarthia—are accompanied by a variety
of further disabling disease symptoms. Review of the literature outlines a complex
pattern of central nervous degeneration in AT that might have been underestimated
so far. Neurodegeneration in AT is closely related to the absence or partial lack
of the ataxia telangiectasia-mutated (ATM) kinase. ATM is a central player in maintaining
cellular homeostasis. Systemic review of the literature reveals a subset of cellular
targets hypothesized to count responsible for degeneration in ATM-deficient neurons.
Further systematic cliniconeurological, pathoanatomical, and neuroradiological studies
are required to understand the structural basis of this neurodegenerative disease.
This better understanding has implications for the treatment of AT patients. Second,
biochemical and molecular biological studies aimed at deciphering the pathomechanisms
of this progressive disorder are necessary for the development of promising future
therapies.
Keywords
ataxia telangiectasia - neurodegeneration - neurological symptoms - pathoanatomy -
treatment options
