{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T07:52:47Z","timestamp":1791532367575,"version":"4.3.4"},"reference-count":112,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2025,8,17]],"date-time":"2025-08-17T00:00:00Z","timestamp":1755388800000},"content-version":"vor","delay-in-days":228,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100030719","name":"National Institute of Health Sciences","doi-asserted-by":"publisher","award":["K08NS119882"],"award-info":[{"award-number":["K08NS119882"]}],"id":[{"id":"10.13039\/100030719","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Pontocerebellar hypoplasia is a rare neurodevelopmental disorder that results from differences in formation and function of the pons, cerebellum and cerebrum. It can be diagnosed prenatally or postnatally with a combination of clinical, neuroimaging and genetic data obtained over time. The diagnosis of pontocerebellar hypoplasia usually portends severe developmental delay, epilepsy and\/or neurodegeneration in childhood. Here we perform a comprehensive review with the primary goal of evaluating published evidence addressing the clinical and genetic features of pontocerebellar hypoplasia by type and subtype. Secondly, we summarize neurodiagnostic patterns of pontocerebellar hypoplasia and demonstrate its spectrum. Finally, we provide recommendations in diagnosis, prognosis and management for the neurologist. To address these goals, we performed an extensive review of published literature from 1912 to 2022. We identified 191 publications by combining search results from PubMed, OMIM and cross-referenced bibliographies. Publications on developmental neuroanatomy, not pertaining to pontocerebellar hypoplasia or published in a foreign language were excluded. We performed both qualitative (1912\u20131993) and quantitative (1993\u20132022) analyses to understand the current classification of this disease as it pertains to genetic and neurodiagnostic features of pontocerebellar hypoplasia by type and subtype. Our review shows that the most reported types of pontocerebellar hypoplasia are 1, 2 and 6; less frequently described are 3, 4 and 9. Very few cases are described for all other subsequent pontocerebellar hypoplasia types. Mutations in TSEN54, RARS2, EXOSC3 and AMPD2 (genes that regulate RNA processing and basic cellular metabolism) are the most frequently reported pathological mutations in pontocerebellar hypoplasia. The neuroradiographic features of pontocerebellar hypoplasia are complex and evolve over time, affecting the pons, cerebellum, vermis, cortex and cerebral white matter. In conclusion, pontocerebellar hypoplasia is a rare neurodevelopmental disorder, often the result of genetic dysfunction in basic neural metabolism. The diagnosis conveys significant implications for the affected individual and their families and requires a combination of clinical, neuroradiographic, and genetic testing to best inform type\/subtype categorization of pontocerebellar hypoplasia.<\/jats:p>","DOI":"10.1093\/braincomms\/fcaf298","type":"journal-article","created":{"date-parts":[[2025,8,17]],"date-time":"2025-08-17T12:36:01Z","timestamp":1755434161000},"source":"Crossref","is-referenced-by-count":6,"title":["Pontocerebellar hypoplasia: a review from 1912 to 2022"],"prefix":"10.1093","volume":"7","author":[{"given":"Natalie A","family":"Kukulka","sequence":"first","affiliation":[{"name":"Division of Neurology, Children\u2019s National Hospital , Washington, DC 20010 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-4836-3310","authenticated-orcid":false,"given":"Shriya","family":"Singh","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children\u2019s National Hospital , Washington, DC 20010 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew T","family":"Whitehead","sequence":"additional","affiliation":[{"name":"Department of Radiology, Children\u2019s National Hospital , Washington, DC 20010 ,","place":["USA"]},{"name":"Division of Neuroradiology, Children\u2019s Hospital of Philadelphia , Philadelphia, PA 19104 ,","place":["USA"]},{"name":"Department of Radiology, Perelman School of Medicine, University of Pennsylvania , Philadelphia, PA 19104 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7681-2844","authenticated-orcid":false,"given":"William B","family":"Dobyns","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Minnesota , Minneapolis, MN 55455 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taeun","family":"Chang","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children\u2019s National Hospital , Washington, DC 20010 ,","place":["USA"]},{"name":"Neonatal Neurology Program, Children\u2019s National Hospital , Washington, DC 20010 ,","place":["USA"]},{"name":"Division of Neurophysiology, Epilepsy, and Critical Care, Children\u2019s National Hospital , Washington, DC 20010 ,","place":["USA"]},{"name":"Department of Pediatrics, George Washington University School of Medicine and Health Sciences , Washington, DC 20052 ,","place":["USA"]},{"name":"Department of Neurology, George Washington University School of Medicine and Health Sciences , Washington, DC 20052 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6049-8144","authenticated-orcid":false,"given":"Youssef A","family":"Kousa","sequence":"additional","affiliation":[{"name":"Division of Neurology, Children\u2019s National Hospital , Washington, DC 20010 ,","place":["USA"]},{"name":"Neonatal Neurology Program, Children\u2019s National Hospital , Washington, DC 20010 ,","place":["USA"]},{"name":"Division of Neurophysiology, Epilepsy, and Critical Care, Children\u2019s National Hospital , Washington, DC 20010 ,","place":["USA"]},{"name":"Department of Pediatrics, George Washington University School of Medicine and Health Sciences , Washington, DC 20052 ,","place":["USA"]},{"name":"Department of Neurology, George Washington University School of Medicine and Health Sciences , Washington, DC 20052 ,","place":["USA"]},{"name":"Department of Genomics and Precision Medicine, George Washington University School of Medicine and Health Sciences , Washington, DC 20052 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,8,17]]},"reference":[{"issue":"8","key":"2025091012364498300_fcaf298-B1","doi-asserted-by":"crossref","first-page":"1286","DOI":"10.1016\/j.neuron.2022.03.019","article-title":"A focus on the neural exposome","volume":"110","author":"Tamiz","year":"2022","journal-title":"Neuron"},{"issue":"1","key":"2025091012364498300_fcaf298-B2","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/0022-510X(90)90096-6","article-title":"Inherited syndrome of microcephaly, dyskinesia and pontocerebellar hypoplasia: A systemic atrophy with early onset","volume":"97","author":"Barth","year":"1990","journal-title":"J Neurol Sci"},{"issue":"4","key":"2025091012364498300_fcaf298-B3","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1007\/BF00334450","article-title":"Fatal infantile encephalopathy with olivopontocerebellar hypoplasia and micrencephaly. Report of three siblings","volume":"85","author":"Albrecht","year":"1993","journal-title":"Acta Neuropathol"},{"issue":"9","key":"2025091012364498300_fcaf298-B4","doi-asserted-by":"crossref","first-page":"1113","DOI":"10.1038\/ng.204","article-title":"tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia","volume":"40","author":"Budde","year":"2008","journal-title":"Nat Genet"},{"issue":"6","key":"2025091012364498300_fcaf298-B5","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1002\/ajmg.a.31095","article-title":"Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?","volume":"140","author":"Patel","year":"2006","journal-title":"Am J Med Genet A"},{"issue":"Pt 1","key":"2025091012364498300_fcaf298-B6","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1093\/brain\/awq287","article-title":"Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia","volume":"134","author":"Namavar","year":"2011","journal-title":"Brain"},{"issue":"6","key":"2025091012364498300_fcaf298-B7","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1016\/0387-7604(93)90080-R","article-title":"Pontocerebellar hypoplasias: An overview of a group of inherited neurodegenerative disorders with fetal onset","volume":"15","author":"Barth","year":"1993","journal-title":"Brain Dev."},{"issue":"2","key":"2025091012364498300_fcaf298-B8","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1212\/WNL.45.2.311","article-title":"The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): Compiled data from 10 pedigrees","volume":"45","author":"Barth","year":"1995","journal-title":"Neurology"},{"key":"2025091012364498300_fcaf298-B9","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/BF01837383","article-title":"Ueber angeborene kleinhirnerkran kungen mit beitzagen zur entwicklungsgeschichte des kleinhirns","volume":"49","author":"Vogt","year":"1912","journal-title":"Arch Psychiatr Nervenkrankh"},{"key":"2025091012364498300_fcaf298-B10","first-page":"61","article-title":"Zur kenntnis der bildungsfehler des kleinhirns. Epikritische bemerkungen zur entwicklungspathologie, morphologie und klinik der umschriebenen entwicklungshemmungen des neozerebellums","volume":"1","author":"Brun","year":"1917","journal-title":"Schweiz Arch Neurol Neurochir Psychiatr."},{"key":"2025091012364498300_fcaf298-B11","first-page":"461","article-title":"Hypoplasia ponto-neocerebellaris","volume":"6","author":"Brouwer","year":"1924","journal-title":"Psychiatr Neurol (Amst)"},{"issue":"1","key":"2025091012364498300_fcaf298-B12","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1111\/j.1600-0447.1926.tb05648.x","article-title":"Two cases of hypoplasia ponto-neocerebellaris","volume":"1","author":"Koster","year":"1926","journal-title":"Acta Psychiatr (Kobenh)"},{"key":"2025091012364498300_fcaf298-B13","first-page":"2","article-title":"Hypoplasia ponto-neocerebellaris, with malformation of the dentate nucleus","volume":"58","author":"Biemond","year":"1955","journal-title":"Folia Psychiatr Neurol Neurochir Neerl"},{"issue":"3","key":"2025091012364498300_fcaf298-B14","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1136\/jnnp.21.3.159","article-title":"Cerebellar hypoplasia associated with systemic degeneration in early life","volume":"21","author":"Norman","year":"1958","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"2","key":"2025091012364498300_fcaf298-B15","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/j.ajhg.2009.07.006","article-title":"Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene","volume":"85","author":"Renbaum","year":"2009","journal-title":"Am J Hum Genet"},{"issue":"4","key":"2025091012364498300_fcaf298-B16","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1111\/j.1469-8749.1975.tb03503.x","article-title":"Cerebellar hypoplasia in Werdnig-Hoffmann disease","volume":"17","author":"Weinberg","year":"1975","journal-title":"Dev Med Child Neurol"},{"issue":"4","key":"2025091012364498300_fcaf298-B17","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1136\/jnnp.40.4.370","article-title":"Anterior horn cell disease associated with pontocerebellar hypoplasia in infants","volume":"40","author":"Gouti\u00e8res","year":"1977","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"4","key":"2025091012364498300_fcaf298-B18","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1007\/BF00312495","article-title":"Hypoplasia ponto-neocerebellaris [Hypoplasia ponto-neocerebellaris (author's translation)]","volume":"215","author":"Peiffer","year":"1977","journal-title":"J Neurol"},{"issue":"3","key":"2025091012364498300_fcaf298-B19","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1002\/ana.410080316","article-title":"Infantile neuronal degeneration masquerading as Werdnig-Hoffmann disease","volume":"8","author":"Steiman","year":"1980","journal-title":"Ann Neurol"},{"issue":"1","key":"2025091012364498300_fcaf298-B20","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/BF00688388","article-title":"Intrauterine multisystem atrophy in siblings: A new genetic syndrome?","volume":"61","author":"Herrick","year":"1983","journal-title":"Acta Neuropathol"},{"issue":"4","key":"2025091012364498300_fcaf298-B21","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1007\/BF00687334","article-title":"Amyotrophic cerebellar hypoplasia: A specific form of infantile spinal atrophy","volume":"63","author":"de Le\u00f3n","year":"1984","journal-title":"Acta Neuropathol"},{"issue":"5","key":"2025091012364498300_fcaf298-B22","first-page":"203","article-title":"Neocerebellar hypoplasia with systemic combined olivo-ponto-dentatal degeneration in a 9-day-old baby: Contribution to the problem of relations between malformation and systemic degeneration in early life","volume":"5","author":"Kawagoe","year":"1986","journal-title":"Clin Neuropathol"},{"issue":"1062","key":"2025091012364498300_fcaf298-B23","first-page":"525","article-title":"Bulbopontocerebellar hypoplasia with aplasia of the inferior olivary nucleus","volume":"79","author":"De Caro","year":"1987","journal-title":"Pathologica"},{"issue":"1\u20132","key":"2025091012364498300_fcaf298-B24","doi-asserted-by":"crossref","first-page":"133","DOI":"10.3109\/15513819009067102","article-title":"Pontocerebellar hypoplasia associated with infantile motor neuron disease (Norman's disease)","volume":"10","author":"Kamoshita","year":"1990","journal-title":"Pediatr Pathol"},{"key":"2025091012364498300_fcaf298-B25","first-page":"299","volume-title":"Fetal and perinatal neurology","author":"Barth","year":"1992"},{"issue":"2","key":"2025091012364498300_fcaf298-B26","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1016\/S0887-8994(00)00166-1","article-title":"Anterior horn cell disease and olivopontocerebellar hypoplasia","volume":"23","author":"Ryan","year":"2000","journal-title":"Pediatr Neurol"},{"issue":"8","key":"2025091012364498300_fcaf298-B27","doi-asserted-by":"crossref","first-page":"e96","DOI":"10.1136\/jmg.40.8.e96","article-title":"Progressive cerebellocerebral atrophy: A new syndrome with microcephaly, mental retardation, and spastic quadriplegia","volume":"40","author":"Ben-Zeev","year":"2003","journal-title":"J Med Genet"},{"key":"2025091012364498300_fcaf298-B28","doi-asserted-by":"crossref","first-page":"4287","DOI":"10.1038\/ncomms5287","article-title":"EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia","volume":"5","author":"Boczonadi","year":"2014","journal-title":"Nat Commun"},{"issue":"5","key":"2025091012364498300_fcaf298-B29","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1136\/jmedgenet-2013-101823","article-title":"VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2)","volume":"51","author":"Feinstein","year":"2014","journal-title":"J Med Genet."},{"issue":"11","key":"2025091012364498300_fcaf298-B30","doi-asserted-by":"crossref","first-page":"2877","DOI":"10.1093\/brain\/aww212","article-title":"Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia","volume":"139","author":"Wan","year":"2016","journal-title":"Brain"},{"issue":"5","key":"2025091012364498300_fcaf298-B31","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1016\/j.ajhg.2018.03.011","article-title":"Variants in EXOSC9 disrupt the RNA exosome and result in cerebellar atrophy with spinal motor neuronopathy","volume":"102","author":"Burns","year":"2018","journal-title":"Am J Hum Genet"},{"issue":"4","key":"2025091012364498300_fcaf298-B32","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1111\/cge.13928","article-title":"Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia","volume":"99","author":"Somashekar","year":"2021","journal-title":"Clin Genet"},{"key":"2025091012364498300_fcaf298-B33","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1186\/1750-1172-9-70","article-title":"Natural course of pontocerebellar hypoplasia type 2A","volume":"9","author":"Sanchez-Albisua","year":"2014","journal-title":"Orphanet J Rare Dis"},{"issue":"9","key":"2025091012364498300_fcaf298-B34","doi-asserted-by":"crossref","first-page":"2268","DOI":"10.1002\/ajmg.a.33579","article-title":"Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): Is prenatal diagnosis possible?","volume":"152A","author":"Graham","year":"2010","journal-title":"Am J Med Genet A"},{"issue":"2","key":"2025091012364498300_fcaf298-B35","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1111\/j.1399-0004.2009.01283.x","article-title":"Genetic mutation in pontocerebellar hypoplasia","volume":"77","author":"Ajibola","year":"2010","journal-title":"Clin Genet. Feb"},{"issue":"1","key":"2025091012364498300_fcaf298-B36","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1186\/s13023-016-0525-9","article-title":"Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia\u2014Further expansion of the phenotypic spectrum","volume":"11","author":"Luhl","year":"2016","journal-title":"Orphanet J Rare Dis"},{"issue":"6","key":"2025091012364498300_fcaf298-B37","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1016\/j.ejpn.2018.07.003","article-title":"Progressive cerebello-cerebral atrophy and progressive encephalopathy with edema, hypsarrhythmia and optic atrophy may be allelic syndromes","volume":"22","author":"Hady-Cohen","year":"2018","journal-title":"Eur J Paediatr Neurol"},{"issue":"4","key":"2025091012364498300_fcaf298-B38","doi-asserted-by":"crossref","first-page":"103801","DOI":"10.1016\/j.ejmg.2019.103801","article-title":"Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration\u2014A novel phenotype associated with mutations in the PLA2G6 gene","volume":"63","author":"Gafner","year":"2020","journal-title":"Eur J Med Genet"},{"issue":"3","key":"2025091012364498300_fcaf298-B39","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1016\/j.braindev.2013.03.007","article-title":"A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot","volume":"36","author":"Nakamura","year":"2014","journal-title":"Brain Dev"},{"issue":"5","key":"2025091012364498300_fcaf298-B40","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1007\/s00401-011-0823-1","article-title":"TSEN54 mutation in a child with pontocerebellar hypoplasia type 1","volume":"121","author":"Simonati","year":"2011","journal-title":"Acta Neuropathol"},{"issue":"8","key":"2025091012364498300_fcaf298-B41","doi-asserted-by":"crossref","first-page":"e46","DOI":"10.1093\/brain\/awx147","article-title":"Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): Identification of SLC25A46 mutations in the original Dutch PCH1 family","volume":"140","author":"van Dijk","year":"2017","journal-title":"Brain"},{"issue":"185","key":"2025091012364498300_fcaf298-B42","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1136\/adc.36.185.96","article-title":"Cerebellar hypoplasia in Werdnig-Hoffmann disease","volume":"36","author":"Norman","year":"1961","journal-title":"Arch Dis Child"},{"issue":"3","key":"2025091012364498300_fcaf298-B43","doi-asserted-by":"crossref","first-page":"936","DOI":"10.1523\/JNEUROSCI.1998-14.2015","article-title":"The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-\u03b2 precursor protein-dependent mechanism","volume":"35","author":"Vinograd-Byk","year":"2015","journal-title":"J Neurosci"},{"issue":"6","key":"2025091012364498300_fcaf298-B44","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1038\/ng.2254","article-title":"Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration","volume":"44","author":"Wan","year":"2012","journal-title":"Nat Genet"},{"issue":"4","key":"2025091012364498300_fcaf298-B45","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1016\/j.ajhg.2010.09.007","article-title":"Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy","volume":"87","author":"Agamy","year":"2010","journal-title":"Am J Hum Genet"},{"issue":"1","key":"2025091012364498300_fcaf298-B46","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1016\/j.ajhg.2016.05.023","article-title":"Autosomal-recessive mutations in the tRNA splicing endonuclease subunit TSEN15 cause pontocerebellar hypoplasia and progressive microcephaly","volume":"99","author":"Breuss","year":"2016","journal-title":"Am J Hum Genet"},{"issue":"10","key":"2025091012364498300_fcaf298-B47","doi-asserted-by":"crossref","first-page":"1664","DOI":"10.1212\/01.WNL.0000068548.58498.41","article-title":"A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21","volume":"60","author":"Rajab","year":"2003","journal-title":"Neurology"},{"issue":"17","key":"2025091012364498300_fcaf298-B48","doi-asserted-by":"crossref","first-page":"1745","DOI":"10.1212\/WNL.0000000000001523","article-title":"Loss of PCLO function underlies pontocerebellar hypoplasia type III","volume":"84","author":"Ahmed","year":"2015","journal-title":"Neurology"},{"issue":"14","key":"2025091012364498300_fcaf298-B49","doi-asserted-by":"crossref","first-page":"2943","DOI":"10.1523\/JNEUROSCI.2316-19.2020","article-title":"Loss of Piccolo function in rats induces cerebellar network dysfunction and pontocerebellar hypoplasia type 3-like phenotypes","volume":"40","author":"Falck","year":"2020","journal-title":"J Neurosci"},{"issue":"4","key":"2025091012364498300_fcaf298-B50","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1016\/S0887-8994(00)00200-9","article-title":"XY sex reversal and a nonprogressive neurologic disorder: A new syndrome?","volume":"23","author":"Mahbubul Huq","year":"2000","journal-title":"Pediatr Neurol"},{"issue":"2","key":"2025091012364498300_fcaf298-B51","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.nmd.2012.08.004","article-title":"Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2","volume":"23","author":"Zafeiriou","year":"2013","journal-title":"Neuromuscul Disord"},{"issue":"2","key":"2025091012364498300_fcaf298-B52","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/j.pediatrneurol.2010.09.002","article-title":"Pontocerebellar hypoplasia type 3 with severe vitamin A deficiency","volume":"44","author":"Jacob","year":"2011","journal-title":"Pediatr Neurol"},{"issue":"5","key":"2025091012364498300_fcaf298-B53","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1016\/j.braindev.2011.07.011","article-title":"Pontocerebellar hypoplasia type 3 with tetralogy of Fallot","volume":"34","author":"Jinnou","year":"2012","journal-title":"Brain Dev"},{"issue":"5","key":"2025091012364498300_fcaf298-B54","doi-asserted-by":"crossref","first-page":"e97","DOI":"10.1111\/epi.13358","article-title":"RARS2 mutations in a sibship with infantile spasms","volume":"57","author":"Ngoh","year":"2016","journal-title":"Epilepsia"},{"issue":"3","key":"2025091012364498300_fcaf298-B55","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1002\/ajmg.a.61452","article-title":"Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and stickler syndrome type 2","volume":"182","author":"Abreu","year":"2020","journal-title":"Am J Med Genet A"},{"issue":"4","key":"2025091012364498300_fcaf298-B56","doi-asserted-by":"crossref","first-page":"103814","DOI":"10.1016\/j.ejmg.2019.103814","article-title":"Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B","volume":"63","author":"Saugier-Veber","year":"2020","journal-title":"Eur J Med Genet."},{"issue":"7","key":"2025091012364498300_fcaf298-B57","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1111\/aogs.13131","article-title":"Enlarged posterior fossa on prenatal imaging: Differential diagnosis, associated anomalies and postnatal outcome","volume":"96","author":"Wuest","year":"2017","journal-title":"Acta Obstet Gynecol Scand"},{"issue":"9","key":"2025091012364498300_fcaf298-B58","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1007\/s002470100507","article-title":"Pontoneocerebellar hypoplasia: Definition of MR features","volume":"31","author":"Goasdoue","year":"2001","journal-title":"Pediatr Radiol"},{"issue":"1","key":"2025091012364498300_fcaf298-B59","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1186\/s13023-018-0826-2","article-title":"What's new in pontocerebellar hypoplasia? An update on genes and subtypes","volume":"13","author":"van Dijk","year":"2018","journal-title":"Orphanet J Rare Dis"},{"key":"2025091012364498300_fcaf298-B60","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3389\/fped.2018.00001","article-title":"TSEN54 gene-related pontocerebellar hypoplasia type 2 could mimic dyskinetic cerebral palsy with severe psychomotor retardation","volume":"6","author":"Pacheva","year":"2018","journal-title":"Front Pediatr"},{"issue":"12","key":"2025091012364498300_fcaf298-B61","doi-asserted-by":"crossref","first-page":"1752","DOI":"10.1038\/s41431-018-0233-0","article-title":"Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis","volume":"26","author":"van Dijk","year":"2018","journal-title":"Eur J Hum Genet"},{"issue":"5","key":"2025091012364498300_fcaf298-B62","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1002\/uog.13312","article-title":"Assessment of fetal midbrain and hindbrain in mid-sagittal cranial plane by three-dimensional multiplanar sonography. Part 2: Application of nomograms to fetuses with posterior fossa malformations","volume":"44","author":"Leibovitz","year":"2014","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"6","key":"2025091012364498300_fcaf298-B63","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1002\/uog.17485","article-title":"Anatomical subgroup analysis of the MERIDIAN cohort: Posterior fossa abnormalities","volume":"50","author":"Griffiths","year":"2017","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"5","key":"2025091012364498300_fcaf298-B64","doi-asserted-by":"crossref","first-page":"2295","DOI":"10.1007\/s00429-016-1342-6","article-title":"Normative biometry of the fetal brain using magnetic resonance imaging","volume":"222","author":"Kyriakopoulou","year":"2017","journal-title":"Brain Struct Funct"},{"issue":"3","key":"2025091012364498300_fcaf298-B65","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1007\/s12311-011-0338-2","article-title":"3D morphometric analysis of human fetal cerebellar development","volume":"11","author":"Scott","year":"2012","journal-title":"Cerebellum"},{"issue":"11","key":"2025091012364498300_fcaf298-B66","first-page":"5274","article-title":"Complex trajectories of brain development in the healthy human fetus","volume":"27","author":"Andescavage","year":"2017","journal-title":"Cereb Cortex"},{"issue":"40","key":"2025091012364498300_fcaf298-B67","doi-asserted-by":"crossref","first-page":"e12602","DOI":"10.1097\/MD.0000000000012602","article-title":"Magnetic resonance imaging of the fetal brain at 3 tesla: Preliminary experience from a single series","volume":"97","author":"da Silva","year":"2018","journal-title":"Medicine (Baltimore)"},{"issue":"8","key":"2025091012364498300_fcaf298-B68","doi-asserted-by":"crossref","first-page":"1636","DOI":"10.3174\/ajnr.A5251","article-title":"Does 3T fetal MRI improve image resolution of normal brain structures between 20 and 24 weeks\u2019 gestational age?","volume":"38","author":"Priego","year":"2017","journal-title":"AJNR Am J Neuroradiol"},{"issue":"5","key":"2025091012364498300_fcaf298-B69","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1038\/s41431-018-0098-2","article-title":"Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9","volume":"26","author":"Kortum","year":"2018","journal-title":"Eur J Hum Genet"},{"key":"2025091012364498300_fcaf298-B70","first-page":"87","article-title":"RARS2 mutations: Is pontocerebellar hypoplasia type 6 a mitochondrial encephalopathy?","volume":"33","author":"van Dijk","year":"2017","journal-title":"JIMD Rep"},{"issue":"5","key":"2025091012364498300_fcaf298-B71","doi-asserted-by":"crossref","first-page":"917","DOI":"10.3174\/ajnr.A4607","article-title":"Diffusion tractography biomarkers of pediatric cerebellar hypoplasia\/atrophy: Preliminary results using constrained spherical deconvolution","volume":"37","author":"Fiori","year":"2016","journal-title":"AJNR Am J Neuroradiol"},{"issue":"4","key":"2025091012364498300_fcaf298-B72","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1016\/j.ejpn.2018.03.011","article-title":"Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature","volume":"22","author":"Ivanov","year":"2018","journal-title":"Eur J Paediatr Neurol"},{"issue":"5","key":"2025091012364498300_fcaf298-B73","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1212\/WNL.0b013e31827f0f66","article-title":"Pontocerebellar hypoplasia type 1: Clinical spectrum and relevance of EXOSC3 mutations","volume":"80","author":"Rudnik-Schoneborn","year":"2013","journal-title":"Neurology"},{"issue":"6","key":"2025091012364498300_fcaf298-B74","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1038\/ejhg.2011.8","article-title":"TSEN54 mutations cause pontocerebellar hypoplasia type 5","volume":"19","author":"Namavar","year":"2011","journal-title":"Eur J Hum Genet. Jun"},{"key":"2025091012364498300_fcaf298-B75","volume-title":"Genereviews","author":"Namavar","year":"1993"},{"issue":"2","key":"2025091012364498300_fcaf298-B76","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1002\/ajmg.c.31403","article-title":"Pontocerebellar hypoplasia","volume":"166C","author":"Rudnik-Schoneborn","year":"2014","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"3","key":"2025091012364498300_fcaf298-B77","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1016\/j.ajhg.2017.07.015","article-title":"Homozygous mutations in TBC1D23 lead to a non-degenerative form of pontocerebellar hypoplasia","volume":"101","author":"Marin-Valencia","year":"2017","journal-title":"Am J Hum Genet"},{"issue":"3","key":"2025091012364498300_fcaf298-B78","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1016\/j.ajhg.2017.07.010","article-title":"Homozygous truncating variants in TBC1D23 cause pontocerebellar hypoplasia and alter cortical development","volume":"101","author":"Ivanova","year":"2017","journal-title":"Am J Hum Genet"},{"issue":"3","key":"2025091012364498300_fcaf298-B79","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1016\/j.cell.2013.07.005","article-title":"AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder","volume":"154","author":"Akizu","year":"2013","journal-title":"Cell"},{"issue":"3","key":"2025091012364498300_fcaf298-B80","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1007\/s10545-011-9413-6","article-title":"Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2","volume":"35","author":"Glamuzina","year":"2012","journal-title":"J Inherit Metab Dis"},{"issue":"1","key":"2025091012364498300_fcaf298-B81","first-page":"1099","article-title":"Distinct magnetic resonance imaging features in a patient with novel RARS2 mutations: A case report and review of the literature","volume":"15","author":"Zhang","year":"2018","journal-title":"Exp Ther Med"},{"issue":"2","key":"2025091012364498300_fcaf298-B82","doi-asserted-by":"crossref","first-page":"e16","DOI":"10.1212\/NXG.0000000000000014","article-title":"Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss","volume":"1","author":"Marsh","year":"2015","journal-title":"Neurol Genet"},{"issue":"1","key":"2025091012364498300_fcaf298-B83","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1038\/s41431-018-0231-2","article-title":"CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63","volume":"27","author":"Marsh","year":"2019","journal-title":"Eur J Hum Genet"},{"issue":"5","key":"2025091012364498300_fcaf298-B84","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/j.ejmg.2018.01.002","article-title":"2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family","volume":"61","author":"Wafik","year":"2018","journal-title":"Eur J Med Genet"},{"issue":"3","key":"2025091012364498300_fcaf298-B85","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1016\/j.cell.2014.02.058","article-title":"Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function","volume":"157","author":"Karaca","year":"2014","journal-title":"Cell"},{"issue":"3","key":"2025091012364498300_fcaf298-B86","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1016\/j.cell.2014.03.049","article-title":"CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration","volume":"157","author":"Schaffer","year":"2014","journal-title":"Cell"},{"issue":"8","key":"2025091012364498300_fcaf298-B87","doi-asserted-by":"crossref","first-page":"103704","DOI":"10.1016\/j.ejmg.2019.103704","article-title":"VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report","volume":"62","author":"Uwineza","year":"2019","journal-title":"Eur J Med Genet"},{"issue":"9","key":"2025091012364498300_fcaf298-B88","doi-asserted-by":"crossref","first-page":"1548","DOI":"10.1093\/hmg\/ddy423","article-title":"A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes","volume":"28","author":"Gershlick","year":"2019","journal-title":"Hum Mol Genet"},{"issue":"3","key":"2025091012364498300_fcaf298-B89","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1038\/s41431-020-00749-x","article-title":"Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1","volume":"29","author":"Appelhof","year":"2021","journal-title":"Eur J Hum Genet."},{"issue":"1","key":"2025091012364498300_fcaf298-B90","doi-asserted-by":"crossref","first-page":"6087","DOI":"10.1038\/s41467-020-19919-y","article-title":"MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in pontocerebellar hypoplasia","volume":"11","author":"Ucuncu","year":"2020","journal-title":"Nat Commun"},{"issue":"45","key":"2025091012364498300_fcaf298-B91","doi-asserted-by":"crossref","first-page":"e2309910120","DOI":"10.1073\/pnas.2309910120","article-title":"FAM91A1-TBC1D23 complex structure reveals human genetic variations susceptible for PCH","volume":"120","author":"Zhao","year":"2023","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"4","key":"2025091012364498300_fcaf298-B92","first-page":"100236","article-title":"Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy","volume":"4","author":"Shieh","year":"2023","journal-title":"HGG Adv"},{"issue":"2","key":"2025091012364498300_fcaf298-B93","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1177\/10935266231151773","article-title":"Severe ciliopathy-like phenotype in an infant with a novel MPDU1 missense variant","volume":"26","author":"Darouich","year":"2023","journal-title":"Pediatr Dev Pathol"},{"issue":"2","key":"2025091012364498300_fcaf298-B94","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1002\/ajmg.a.63035","article-title":"A severe clinicopathologic phenotype of RAF1 Ser257Leu neomutation in a preterm infant without cardiac anomaly","volume":"191","author":"Darouich","year":"2023","journal-title":"Am J Med Genet A"},{"issue":"2","key":"2025091012364498300_fcaf298-B95","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/s10048-023-00709-9","article-title":"INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms","volume":"24","author":"Hecher","year":"2023","journal-title":"Neurogenetics"},{"issue":"5","key":"2025091012364498300_fcaf298-B96","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1016\/j.siny.2016.04.014","article-title":"Cerebellar disruptions and neurodevelopmental disabilities","volume":"21","author":"Bosemani","year":"2016","journal-title":"Semin Fetal Neonatal Med"},{"key":"2025091012364498300_fcaf298-B97","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/j.pediatrneurol.2019.03.015","article-title":"Structural magnetic resonance imaging-based brain morphology study in infants and toddlers with down syndrome: The effect of comorbidities","volume":"100","author":"Shiohama","year":"2019","journal-title":"Pediatr Neurol"},{"issue":"3","key":"2025091012364498300_fcaf298-B98","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1016\/j.ejpn.2006.11.012","article-title":"Pontocerebellar hypoplasia type 2: Variability in clinical and imaging findings","volume":"11","author":"Steinlin","year":"2007","journal-title":"Eur J Paediatr Neurol"},{"key":"2025091012364498300_fcaf298-B99","first-page":"xvii","volume-title":"Pediatric neuroimaging","author":"Barkovich","year":"2012","edition":"5th edn"},{"issue":"11","key":"2025091012364498300_fcaf298-B100","doi-asserted-by":"crossref","first-page":"2062","DOI":"10.3174\/ajnr.A3151","article-title":"The shrunken, bright cerebellum: A characteristic MRI finding in congenital disorders of glycosylation type 1a","volume":"33","author":"Feraco","year":"2012","journal-title":"AJNR Am J Neuroradiol"},{"issue":"9","key":"2025091012364498300_fcaf298-B101","doi-asserted-by":"crossref","first-page":"1419","DOI":"10.1038\/s41431-019-0400-y","article-title":"Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy","volume":"27","author":"Sheffer","year":"2019","journal-title":"Eur J Hum Genet"},{"issue":"2","key":"2025091012364498300_fcaf298-B102","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1055\/s-0040-1712916","article-title":"A novel homozygous frameshift WDR81 mutation associated with microlissencephaly, corpus callosum agenesis, and pontocerebellar hypoplasia","volume":"10","author":"Kalmar","year":"2021","journal-title":"J Pediatr Genet"},{"issue":"6","key":"2025091012364498300_fcaf298-B103","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1038\/s41431-021-00832-x","article-title":"Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia","volume":"29","author":"Ghosh","year":"2021","journal-title":"Eur J Hum Genet"},{"issue":"6","key":"2025091012364498300_fcaf298-B104","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1002\/bdr2.1191","article-title":"Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1","volume":"110","author":"Bacrot","year":"2018","journal-title":"Birth Defects Res"},{"issue":"3","key":"2025091012364498300_fcaf298-B105","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1177\/0883073812441065","article-title":"The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patients","volume":"28","author":"Sonmez","year":"2013","journal-title":"J Child Neurol"},{"issue":"6","key":"2025091012364498300_fcaf298-B106","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1055\/s-0039-1688953","article-title":"VLDLR-associated pontocerebellar hypoplasia with nonprogressive congenital ataxia and a diagnostic neuroimaging pattern","volume":"50","author":"Wilker","year":"2019","journal-title":"Neuropediatrics"},{"issue":"3","key":"2025091012364498300_fcaf298-B107","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1055\/s-0036-1578799","article-title":"Novel mutation in the DKC1 gene: Neonatal Hoyeraal-Hreidarsson syndrome as a rare differential diagnosis in pontocerebellar hypoplasia, primary microcephaly, and progressive bone marrow failure","volume":"47","author":"Dehmel","year":"2016","journal-title":"Neuropediatrics"},{"issue":"11","key":"2025091012364498300_fcaf298-B108","first-page":"e19988","article-title":"Refractory epilepsy in a toddler with PPP2R1A gene mutation and congenital hydrocephalus","volume":"13","author":"Ruxmohan","year":"2021","journal-title":"Cureus"},{"issue":"4","key":"2025091012364498300_fcaf298-B109","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1055\/s-0039-1692414","article-title":"A newborn with severe ventriculomegaly: Expanding the PPP2R1A gene mutation phenotype","volume":"8","author":"Wallace","year":"2019","journal-title":"J Pediatr Genet"},{"issue":"1","key":"2025091012364498300_fcaf298-B110","first-page":"135","article-title":"New VOUS in CASK gene correlating with the MICPCH phenotype","volume":"16","author":"Shelby","year":"2021","journal-title":"Maedica (Bucur)"},{"issue":"3","key":"2025091012364498300_fcaf298-B111","doi-asserted-by":"crossref","first-page":"103766","DOI":"10.1016\/j.ejmg.2019.103766","article-title":"A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome","volume":"63","author":"Nevanlinna","year":"2020","journal-title":"Eur J Med Genet"},{"issue":"3","key":"2025091012364498300_fcaf298-B112","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1002\/uog.22038","article-title":"Prenatal diagnosis of pontocerebellar hypoplasia associated with rare syndromes: Expanding the genetic and phenotypic spectrum","volume":"57","author":"Desai","year":"2020","journal-title":"Ultrasound Obstet Gynecol"}],"container-title":["Brain Communications"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/braincomms\/advance-article-pdf\/doi\/10.1093\/braincomms\/fcaf298\/64068958\/fcaf298.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/braincomms\/article-pdf\/7\/5\/fcaf298\/64068958\/fcaf298.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/braincomms\/article-pdf\/7\/5\/fcaf298\/64068958\/fcaf298.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,10]],"date-time":"2025-09-10T16:37:08Z","timestamp":1757522228000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/braincomms\/article\/doi\/10.1093\/braincomms\/fcaf298\/8236578"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025]]},"references-count":112,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,9,1]]}},"URL":"https:\/\/doi.org\/10.1093\/braincomms\/fcaf298","relation":{},"ISSN":["2632-1297"],"issn-type":[{"value":"2632-1297","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025]]},"published":{"date-parts":[[2025]]},"article-number":"fcaf298"}}