In their 2011 study “Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia”, Namavar et al. demonstrated the connection between genetic findings on the one hand, and brain abnormalities seen in imaging as well as clinical symptoms of patients with pontocerebellar hypoplasia on the other.
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.
