Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome

作者：Teive Helio A G^*; Moro Adriana; Moscovich Mariana; Arruda Walter O; Munhoz Renato P; Raskin Salmo; Ashizawa Tetsuo

来源：Journal of the Neurological Sciences, 2015, 355(1-2): 3-6.

DOI：10.1016/j.jns.2015.05.022

• Ataxia-telangiectasia
• Cerebellar ataxia
• Immunodeficiency
• Malignancies
• Oculocutaneous telangiectasia
• Alpha-fetoprotein

The authors review ataxia telangiectasia, emphasizing historical aspects, genetic discoveries, and the clinical presentations of the classical and atypical forms. In fact, ataxia telangiectasia represents a multisystem entity with pleomorphic neurological and systemic manifestations. ATM syndrome is proposed as a more adequate designation for this entity.

• 出版日期2015-8-15