„You can do so much more than you think“ Anna from Germany talks with love about her family’s journey, her son Ole, and her sick daughter Nele. She tells of…
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…
“He Was Blessed With Many Years” Anke Roesch from Germany takes us on her family’s journey with a PCH2 diagnosis. She talks about the years with her son Sebastian -…
In their 2008 study “Mutations in the tRNA splicing endonuclease cause pontocerebellar hypoplasia”, Budde et al. demonstrated the genetic cause of PCH2 through genomic analysis. The underlying change is located on chromosome 17q25, specifically in the TSEN54 gene.
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.
In their 1990 article “The inherited syndrome of microcephaly, dyskinesia and pontocerebellar hypoplasia: a systemic atrophy with early onset”, Barth et al. reported on a neurodegenerative disorder observed in seven children from five related families.
Sleep problems are very common in (small) children. This is considered normal in the first year of life, as the sleep-wake cycle is still developing and waking up at night…
A motor disorder in the form of frequent, involuntary movements and a significant impairment of voluntary motor skills is one of the main symptoms of PCH2. Different Movement Patterns This…
Reflux comes from Latin “refluxus” and means backflow. Gastroesophageal reflux occurs when (acidic) stomach contents flow back into the esophagus. This happens when the sphincter muscle between the esophagus and…
