In their recently published preprint “Brain morphometry and psychomotor development in children with PCH2A”, Pretzel et al. analyzed 78 brain MRIs from a total of 57 children with PCH2A.
Our aim is to use cerebellar and cerebral organoids to recreate PCH2 under laboratory conditions. With a suitable model of PCH2, we can then find out whether and in what way cells with PCH2 differ from healthy cells.
Typical gastrointestinal symptoms in patients with PCH2A (feeding difficulties, reflux, vomiting, bloating, constipation, defecation disorders, dysmotility, cramping abdominal pain, restlessness) are recorded in a standardized manner and compared with a control group (children and adolescents with other types of severe neurological impairment).
The severe neurological symptoms seen in children with PCH2A are caused by how the disease affects the brain. MRI allows us to visualize these abnormalities more precisely and thus gain important insights into the disease.
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.
