On May 2, 2024, we went live at www.PCH2cure.org – the new knowledge and exchange platform for pontocerebellar hypoplasia type 2. We hope all visitors to this website gain exciting…
In July 2024, 28 PCH children and their families will set off on Cruise4Life, a one-of-a-kind research cruise. Lots of doctors and researchers from the PCH2cure project will spend a…
The article originally titled “Human organoid model of PCH2a recapitulates brain region-specific pathology” shows for the first time how the pathology in certain brain regions in PCH2A can be simulated in a 3-dimensional neuronal tissue model (organoid).
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.