Beyond Typical Ataxia Telangiectasia: How to Identify the Ataxia Telangiectasia-Like Disorders.

Background: Ataxia telangiectasia is one of the most common causes of autosomal recessive cerebellar ataxias. However, absence of telangiectasia, normal levels of alpha-fetoprotein and negative genetic test may direct to alternative diagnosis with similar phenotypes such as ataxia telangiectasia-like disorders (ATLD).

Cases: We report two instructive cases of ATLD: the first case with ataxia telangiectasia-like disorder type 1 related to gene, and the second case with ataxia telangiectasia-like disorder type 2 related to gene.