Patients carrying pR140H, suffer from a disease called pontocerebellar hypoplasia type 10 (PCH10), which leads to microcephaly, motor-neuron disease, tonic-clonic seizures, as well as atrophies in the brainstem and cerebellum.247, 248 Experimental deletion of CLP1, leads to global increase in IPA, which results in equally abnormal neuronal differentiation and so indicates that premature transcription termination plays an important role in maintaining healthy neuronal cells.247. This evidence concerns the gene CLP1 and pontocerebellar hypoplasia type 10.