Ataxia-telangectasia
– autosomal recessive multisystem disorder 
– caused by mutation in the ATM gene involved in DNA repair 
– earliest manifestation is cerebellar ataxia (often within first year of life) 
– Dysarthria and a mixed sensorimotor polyneuropathy are later manifestations of the disease 
– other sx: recurrent sinupulmonary infection, malignancy, and dermal/ocular telangiectasias