Pontocerebellar Hypoplasia Type 9: A New Case with a Novel Mutation and Review of Literature.

ABSTRACT: Pontocerebellar hypoplasia type 9 (PCH-9) is a very rare autosomal recessive neurodegenerative disorder. Affected infants present early with severe developmental delay, spasticity, with the unique magnetic resonance imaging picture of thin corpus callosum, atrophied pons, and cerebellum. It is caused by loss of function mutations in the AMPD2 gene, encoding for the adenosine monophosphate deaminase enzyme-paralog 2. This gene is expressed in different somatic tissues with high level of expression in cerebellum and its encoded enzyme catalyzes a critical step in de novo biosynthesis of purines and its deficiency in the developing neurons severely affects neuronal differentiation and cell viability. We clinically evaluated an Emirati patient presented with severe developmental

SUBMITTER: Abdelrahman HA 

PROVIDER: S-EPMC11288706 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature