In fact, mutations in PNKP gene cause inherited diseases accompanying severe neural developmental failure, such as microcephaly and seizure (MCSZ), and neurodegeneration such as ataxia with oculomotor apraxia 4 (AOA4) and Charcot-Marie-Tooth disease 2B2 (CMT2B2) [10–14]. Here, PNKP is linked to Ataxia-oculomotor apraxia type 4.