<unk>  (A-T) is an autosomal recessive disorder caused by mutations in the gene<unk>  <unk>  mutated)(11q22.3). This gene is expressed commonly and encodes a protein kinase <unk>  kinase) which plays a key role in the control of double-strand-break DNA repair.
A-T is a progressive, multisystem disease that has a large number of complex and diverse manifestations that vary with age.  
The clinical picture of this condition can be very variable and the severity of the pulmonary, immunological and neurological manifestations varies widely between patients and is related to the severity of the underlying mutations and any residual<unk>  kinase activity. It has been recently suggested that the name A-T should be replaced by<unk>  syndrome.<unk>  syndrome represents a neurodegenerative disorder with multisystem involvement due to the absence or reduced levels of<unk>  protein and kinase activity. The syndrome is characterised by the presence of movement disorders, such as cerebellar<unk> , dystonia, chorea and myoclonus, in association with systemic abnormalities such as immunodeficiency, malignancies, oculocutaneous<unk> s and an increase in α-fetoprotein levels. The disease most commonly presents with<unk>  during the third or fourth year of life. The important first step in the evaluation of young children presenting with<unk>  should be α-fetoprotein testing. The diagnosis should then be confirmed by genetic testing to identify the mutations and measure the product of the<unk>  gene, the protein kinase<unk> . This diagnostic test is likely to be available in specialised laboratories only.
Patients with A-T die prematurely, the leading causes of death being respiratory diseases and cancer. A minimally estimated annual mortality rate for white patients is 19.5/1000 for ages 15–19 years and reportedly three-fold higher for African-American patients.
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