APTX and Ataxia - oculomotor apraxia type 1: These results fit with other genetic data showing that DDR dysregulation leads to neurologic alteration-associated diseases, such as: Ataxia-telangiectasia, caused by ATM mutations (Amirifar et al., 2020); Xeroderma Pigmentosum, caused by mutations in several genes involved in the nucleotide excision repair pathway (Uribe-Bojanini et al., 2017); or Ataxia with oculomotor Apraxia Type 1, caused by Aprataxin (APTX) mutation involved in single-strand break DNA repair (Coutinho et al., 1993).