A mutation in CLP1 gene (R140A) – a RNA kinase involved in tRNA splicing – is present in pontocerebellar hypoplasia (PCH) patients, a heterogeneous group of inherited neurodegenerative disorders characterized by the loss of motor neurons, muscle paralysis, impaired development of various parts of the brain and differential tRNA splicing (Karaca et al., 2014; Schaffer et al., 2014). The gene discussed is CLP1; the disease is pontocerebellar hypoplasia.