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Abstract

Focusing New Ataxia Telangiectasia Therapeutic Approaches

Ataxia Telangiectasia (AT) is a rare worldwide disease inherited as autosomal recessive with a poor prognosis in its classical form. It is characterized by neurological impairment (progressive cerebellar ataxia, axonal peripheral neuropathy, oculomotor apraxia, and movement disorders such as dystonia, choreoathetosis, myoclonus, tremor, Parkinsonism), telangiectasias, recurrent sino pulmonary infections, proneness to cancer, increased alpha-fetoprotein and decreased IgA levels and radio hypersensitivity. AT is caused by biallelic mutations in ATM gene, which plays a pivotal role in the control of cell cycle and in the response to DNA double strand break damage and chromatin changes. The management of patients, as well as prognosis, depends on the severity of the phenotype; only symptomatic therapies are by now available. Here we discuss the classical and the new therapeutic approaches in the light of the most recent reports in the literature.


Author(s):

Luciana Chessa, Roberto Micheli and Anna Molinaro



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