CHCHD2 and Parkinson disease: To date, three CHCHD2 genetic mutants have been identified in autosomal dominant PD patients: c.182C > T (p.Thr61Ile), c.434G > A (p.Arg145Gln) and c.300 + 5G > A. Funayama et al. (2015) identified by second generation sequencing in a Japanese PD family line.