Our results provide the first report of the effect of a CLP1 mutation in humans. Based upon this, and previously published data, we propose that patients with a CLP1R140H founder mutation display neurodegeneration due to defects in tRNA splicing. Because CLP1, in at least one capacity, associates with the TSEN complex and because patients display features similar to PCH, we propose that the condition we describe here should be considered a new form of PCH that we propose as PCH type 10. The appearance of the brain scan is very distinct from the previously published PCH forms, does not show the “dragonfly” sign (Namavar et al., 2011a), and shows equal involvement of the hindbrain and forebrain. Further characterization of this clinical phenotype could help better define similarities/differences from other forms of PCH.
