This article provides an overview of all relevant scientific publications on PCH. It lists all publications produced as part of the PCH2cure project, as well as important external publications.
Staying in the loop: the latest on PCH
This article will be updated as soon as a new publication is released, so you’ll always know what’s new. Links will be provided to the original article from the journal as well as a summary for non-specialists.
Publications from the PCH2cure project
2026
Successful defense of a Doctoral Thesis on PCH2A, or “Gastrointestinal Symptoms, Nutrition, and Growth in Pontocerebellar Hypoplasia Type 2A” by Alice Kuhn.
“Diagnostic Clues and Pitfalls in Pontocerebellar Hypoplasia Type 2A” by Herrmann et al.
2025
Disease-specific percentiles can help to monitor the individual development of a child with PCH2A or “Constructed growth charts and nutrition for pontocerebellar hypoplasia type 2A” by Kuhn et al.
New data on brain development in children with PCH2 or “Brain morphometry and psychomotor development in children with PCH2A” by Pretzel et al.
2024
Brain models help in researching PCH2 or “Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences” by Kagermeier et al.
External publications on PCH
2018
“What’s new in pontocerebellar hypoplasia? An update on genes and subtypes” by van Dijk et al.
2014
“Natural course of pontocerebellar hypoplasia type 2A” by Sánchez-Albisua et al.
2011
“Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia” by Namavar et al.
2008
A milestone in PCH2 research – the genetic cause was discovered or “tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia” by Budde et al.
1995
First systematic description of PCH type 2 or “The syndrome of autosornal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2)” by Barth et al.
1990
“Inherited syndrome of microcephaly, dyskinesia and pontocerebellar hypoplasia: A systemic atrophy with early onset” by Barth et al.
This article lists relevant publications on PCH to the best of our knowledge and does not claim to be exhaustive. Have you published an article on PCH and would like your work to be listed here? Contact us here.
