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

Abstract 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 impai...

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Bibliographic Details
Main Authors: Tessa van Dijk, Frank Baas, Peter G. Barth, Bwee Tien Poll-The
Format: Article
Published: BMC 2018-06-01
Series:Orphanet Journal of Rare Diseases
Online Access:http://link.springer.com/article/10.1186/s13023-018-0826-2