Cargando…

What’s new in pontocerebellar hypoplasia? An update on genes and subtypes

BACKGROUND: Pontocerebellar hypoplasia (PCH) describes a rare, heterogeneous group of neurodegenerative disorders mainly with a prenatal onset. Patients have severe hypoplasia or atrophy of cerebellum and pons, with variable involvement of supratentorial structures, motor and cognitive impairments....

Descripción completa

Detalles Bibliográficos
Autores principales: van Dijk, Tessa, Baas, Frank, Barth, Peter G., Poll-The, Bwee Tien
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6003036/
https://www.ncbi.nlm.nih.gov/pubmed/29903031
http://dx.doi.org/10.1186/s13023-018-0826-2
_version_ 1783332293799051264
author van Dijk, Tessa
Baas, Frank
Barth, Peter G.
Poll-The, Bwee Tien
author_facet van Dijk, Tessa
Baas, Frank
Barth, Peter G.
Poll-The, Bwee Tien
author_sort van Dijk, Tessa
collection PubMed
description BACKGROUND: Pontocerebellar hypoplasia (PCH) describes a rare, heterogeneous group of neurodegenerative disorders mainly with a prenatal onset. Patients have severe hypoplasia or atrophy of cerebellum and pons, with variable involvement of supratentorial structures, motor and cognitive impairments. Based on distinct clinical features and genetic causes, current classification comprises 11 types of PCH. MAIN TEXT: In this review we describe the clinical, neuroradiological and genetic characteristics of the different PCH subtypes, summarize the differential diagnosis and reflect on potential disease mechanisms in PCH. Seventeen PCH-related genes are now listed in the OMIM database, most of them have a function in RNA processing or translation. It is unknown why defects in these apparently ubiquitous processes result in a brain-specific phenotype. CONCLUSIONS: Many new PCH related genes and phenotypes have been described due to the appliance of next generation sequencing techniques. By including such a broad range of phenotypes, including non-degenerative and postnatal onset disorders, the current classification gives rise to confusion. Despite the discovery of new pathways involved in PCH, treatment is still symptomatic. However, correct diagnosis of PCH is important to provide suitable care and counseling regarding prognosis, and offer appropriate (prenatal) genetic testing to families.
format Online
Article
Text
id pubmed-6003036
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-60030362018-07-06 What’s new in pontocerebellar hypoplasia? An update on genes and subtypes van Dijk, Tessa Baas, Frank Barth, Peter G. Poll-The, Bwee Tien Orphanet J Rare Dis Review BACKGROUND: Pontocerebellar hypoplasia (PCH) describes a rare, heterogeneous group of neurodegenerative disorders mainly with a prenatal onset. Patients have severe hypoplasia or atrophy of cerebellum and pons, with variable involvement of supratentorial structures, motor and cognitive impairments. Based on distinct clinical features and genetic causes, current classification comprises 11 types of PCH. MAIN TEXT: In this review we describe the clinical, neuroradiological and genetic characteristics of the different PCH subtypes, summarize the differential diagnosis and reflect on potential disease mechanisms in PCH. Seventeen PCH-related genes are now listed in the OMIM database, most of them have a function in RNA processing or translation. It is unknown why defects in these apparently ubiquitous processes result in a brain-specific phenotype. CONCLUSIONS: Many new PCH related genes and phenotypes have been described due to the appliance of next generation sequencing techniques. By including such a broad range of phenotypes, including non-degenerative and postnatal onset disorders, the current classification gives rise to confusion. Despite the discovery of new pathways involved in PCH, treatment is still symptomatic. However, correct diagnosis of PCH is important to provide suitable care and counseling regarding prognosis, and offer appropriate (prenatal) genetic testing to families. BioMed Central 2018-06-15 /pmc/articles/PMC6003036/ /pubmed/29903031 http://dx.doi.org/10.1186/s13023-018-0826-2 Text en © The Author(s). 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Review
van Dijk, Tessa
Baas, Frank
Barth, Peter G.
Poll-The, Bwee Tien
What’s new in pontocerebellar hypoplasia? An update on genes and subtypes
title What’s new in pontocerebellar hypoplasia? An update on genes and subtypes
title_full What’s new in pontocerebellar hypoplasia? An update on genes and subtypes
title_fullStr What’s new in pontocerebellar hypoplasia? An update on genes and subtypes
title_full_unstemmed What’s new in pontocerebellar hypoplasia? An update on genes and subtypes
title_short What’s new in pontocerebellar hypoplasia? An update on genes and subtypes
title_sort what’s new in pontocerebellar hypoplasia? an update on genes and subtypes
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6003036/
https://www.ncbi.nlm.nih.gov/pubmed/29903031
http://dx.doi.org/10.1186/s13023-018-0826-2
work_keys_str_mv AT vandijktessa whatsnewinpontocerebellarhypoplasiaanupdateongenesandsubtypes
AT baasfrank whatsnewinpontocerebellarhypoplasiaanupdateongenesandsubtypes
AT barthpeterg whatsnewinpontocerebellarhypoplasiaanupdateongenesandsubtypes
AT pollthebweetien whatsnewinpontocerebellarhypoplasiaanupdateongenesandsubtypes