biostudies-literatureNamavar YManchester NIHR Biomedical Research CentreMedical Research CouncilHersenstichting NederlandNINDS NIH HHSAMC Graduate School, University of AmsterdamNIH143-56https://www.ebi.ac.uk/biostudies/studies/S-EPMC9136852biostudies-literatureUnknown134(Pt 1)Pontocerebellar hypoplasia is a group of autosomal recessive neurodegenerative disorders with prenatal onset. The common characteristics are cerebellar hypoplasia with variable atrophy of the cerebellum and the ventral pons. Supratentorial involvement is reflected by variable neocortical atrophy, ventriculomegaly and microcephaly. Mutations in the transfer RNA splicing endonuclease subunit genes (TSEN54, TSEN2, TSEN34) were found to be associated with pontocerebellar hypoplasia types 2 and 4. Mutations in the mitochondrial transfer RNA arginyl synthetase gene (RARS2) were associated with pontocerebellar hypoplasia type 6. We studied a cohort of 169 patients from 141 families for mutations in these genes, of whom 106 patients tested positive for mutations in one of the TSEN genes or the RARBrain : a journal of neurologyClinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.PMC9136852KS2009(1)-81G0601943R01 NS050375Ventura Kvon Moers ASeidl RWargowski DSival DAKyllerman MGooskens RPhillips JJFreeman JLHageman GPCH ConsortiumBaas FFoulds NKress WWritzl KBoycott KAdes LCEason JEggens VROuvrier Rvan der Knaap MSMollmann STijssen MABrussel WRutledge JCHaeussler MNemeth AHHorn DDobyns WBBrueton LChandler KEIsidor BRyan MMSnoeck INStraussberg RFisher RBDebus OShannon NLvan Ruissen FBernert GNamavar YVan der Aa NRoelens FWilliams ANDemir ELunsing RJMcGillivray GPoll-The BTArts WFKrageloh-Mann IKing MCowan FMBasel-Vanagaite LBrockmann KHammersen GSellerer NCPalmafy BKnoers NKorinthenberg RNeufeld-Kaiser WBahi-Buisson NBattini RLachmeijer AMWindpassinger CKroisel PMPeeters EAKasher PRMuntoni FPrice SDe Meirleir LVerloo PFerriero DMde Vries LSBarth PGBodamer Ode Rijk-van Andel JFCheng EYBoltshauser EFerrie CDHastanesi GSztriha Lvan Nieuwenhuizen ORegal LGraham JMRankin JCrow YfalseClinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.Pontocerebellar hypoplasia is a group of autosomal recessive neurodegenerative disorders with prenatal onset. The common characteristics are cerebellar hypoplasia with variable atrophy of the cerebellum and the ventral pons. Supratentorial involvement is reflected by variable neocortical atrophy, ventriculomegaly and microcephaly. Mutations in the transfer RNA splicing endonuclease subunit genes (TSEN54, TSEN2, TSEN34) were found to be associated with pontocerebellar hypoplasia types 2 and 4. Mutations in the mitochondrial transfer RNA arginyl synthetase gene (RARS2) were associated with pontocerebellar hypoplasia type 6. We studied a cohort of 169 patients from 141 families for mutations in these genes, of whom 106 patients tested positive for mutations in one of the TSEN genes or the RAR2011-01-01T00:00:00Z2011 Jan2026-04-08T10:36:01.509Z2025-04-07T08:26:27.947ZS-EPMC91368522095237910.1093/brain/awq287