Since PNKP could share the same mutations in both neurodevelopmental and neurodegenerative diseases, the problem cannot be referred to the protein variant itself, but how the PNKP mutant interacts with the available repair machinery for a specific momentum and strand. This can be synthesized as the effect of the mutation in the enzyme and the particular pathway involved that ultimately leads to a specific phenotype. Here, PNKP is linked to neurodegenerative disease.