This report describes pontocerebellar hypoplasia, type 5 (PCH5), which is a subtype of pontocerebellar hypoplasia. The human gene implicated in this disease is TSEN54; this gene is implicated in several subtypes of pontocerebellar hypoplasia (MIM:608755). See the report for pontocerebellar hypoplasia, TSEN54-related (FBhh0001450) for information on experimental results using Drosophila models of this and related diseases.
[updated April 2022 by FlyBase; FBrf0222196]
Multiple subtypes of pontocerebellar hypoplasia have been described. All forms of this condition are characterized by impaired brain development, delayed development overall, problems with movement, and intellectual disability. The brain abnormalities are usually present at birth, and in some cases they can be detected before birth. Many children with pontocerebellar hypoplasia live only into infancy or childhood, although some affected individuals have lived into adulthood. [MedlinePlus, Pontocerebellar hypoplasia; 2022.04.16]
Pontocerebellar hypoplasia (PCH) refers to a group of severe neurodegenerative disorders affecting growth and function of the brainstem and cerebellum, resulting in abnormally small cerebellum and brainstem. [from MIM:607596; 2022.04.16]
[PONTOCEREBELLAR HYPOPLASIA, TYPE 5; PCH5](https://omim.org/entry/610204)
[tRNA SPLICING ENDONUCLEASE, SUBUNIT 54; TSEN54](https://omim.org/entry/608755)
Patel et al. (2006, pubmed:16470708) described 3 sibs, born of nonconsanguineous parents, with a precise onset of fetal seizure-like activity who had severe olivopontocerebellar hypoplasia (OPCH) and degeneration. Autopsies at 20, 27, and 37 weeks' gestation showed diffuse central nervous system volume loss that was most marked for the cerebellum and brainstem structures. [from MIM:610204; 2022.04.16]
[from MIM:610204; 2022.04.16]
Pontocerebellar hypoplasia type 5 (PCH5) is caused by compound heterozygous mutation in the TSEN54 gene; one such family has been reported.
