Ataxia-telangiectasia-like syndrome

Ataxia-telangiectasia-like disorder (ATLD) is a very rare autosomal recessive disorder, caused by mutations in Mre11 gene. Mre11 is a member of the Mre11/Rad50/Nbs1 (MRN) protein complex, that acts as a double-strand break sensor and recruits ATM to broken DNA molecules. The clinical features include the progressive cerebellar ataxia, and they are very similar to those of Ataxia-telangiectasia (A-T). In contrast to A-T, ATLD patients don't show telangiectasia and immune deficiency. Recently, genetic heterogeneity of ATLD, caused by mutation in the PCNA gene, has been reported.