Pontocerebellar hypoplasia (PCH), a rare neurodevelopmental disorder, is associated with changes in genes coding for the tRNA splicing endonuclease (TSEN). This multicomponent enzyme is involved in generating essential building blocks for protein synthesis, a process that is crucial to establish and maintain the function of healthy cells. TSEN is found in every cell of the human body but the effect of the PCH-linked mutations only manifests in specific regions of the brain; a phenomenon not understood at all yet.
The aim of the study “Natural course of pontocerebellar hypoplasia type 2A” by Sánchez-Albisua et al. was to describe the natural course of PCH2 using a uniform group of patients with the typical PCH2A mutation.
In their 1995 study “The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): Compiled data from 10 pedigrees”, Barth et al. collected data from 10 unrelated family pedigrees.
