Pontocerebellar hypoplasia

Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):173-83. doi: 10.1002/ajmg.c.31403. Epub 2014 Jun 12.


Pontocerebellar hypoplasia (PCH) is a clinically and genetically heterogeneous group of autosomal recessively inherited neurodevelopmental disorders. Following the rapidly increasing number of genes identified in different subtypes, the clinical spectrum has been broadened to completely different neurological phenotypes. In this review we will address the clinical picture, neuroradiological, pathoanatomic, and genetic findings in the currently known PCH subtypes.

Keywords: classification; genetics; pontocerebellar hypoplasia.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Cerebellar Diseases / classification
  • Cerebellar Diseases / genetics
  • Cerebellar Diseases / pathology
  • Cerebellum / physiopathology
  • Diagnosis, Differential
  • Humans
  • Magnetic Resonance Imaging
  • Neuroimaging
  • Phenotype

Supplementary concepts

  • Pontocerebellar Hypoplasia