Whole exome sequencing focused on 60 genes causative of monogenic neurodegenerative diseases (APP, ATP1A3, CCNF, CHCHD10, CHCHD2, CHMP2B, COL4A1, CSF1R, CYLD, DCTN1, DNAJC13, DNMT1, FUS, GCH1, GRN, HNRNPA1, HNRNPA2B1, ITM2B, LRRK2, MAPT, MATR3, NOTCH3, PRKAR1B, PRNP, PSEN1, PSEN2, SERPINI1, SNCA, SNCB, SQSTM1, TARDBP, TBK1, TIA1, TMEM230, TUBA4A, VCP, VPS35, ATP13A2, DNAJC6, FBXO7, HTRA1, OPTN, PANK2, PARK2, PARK7, PINK1, PLA2G6, SPG11, SYNJ1, TH, TREM2, TYROBP, VPS13C, POLG, ATP6AP2, RAB39B, UBQLN2, GBA, APOE, PLCG2). The gene discussed is GCH1; the disease is neurodegenerative disease.