Barth PG. Pontocerebellar hypoplasias an overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev. 1993;15(6):411–22.

CAS  Article  Google Scholar 

Barth PG, Aronica E, de Vries L, Nikkels PGJ, Scheper W, Hoozemans JJ, et al. Pontocerebellar hypoplasia type 2: a neuropathological update. Acta Neuropathol. 2007;114(4):373–86.

Article  Google Scholar 

Brun R. Zur Kenntnis der Bildungsfehler des Kleinhirns. Epikritische Bemerkungen zur Entwicklungspathologie, Morphologie und Klinik der Umschriebenen Entwicklungshemmungen des Neozerebellums. Schweiz Arch Neurol Psychiatr.1917;1:48–105.

Appelhof B, Wagner M, Hoefele J, Heinze A, Roser T, Koch-Hogrebe M, et al. Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1. Europ J Hum Genet. 2021;29:411–21.

CAS  Article  Google Scholar 

Ucuncu E, Rajamani K, Wilson MSC, Medina-Cano D, Altin N, David P, et al. MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in pontocerebellar hypoplasia. Nature Commun. 2020;11:6087.

CAS  Article  Google Scholar 

Van Dijk T, Baas F, Barth PG, Poll-The BT. What’s new in pontocerebellar hypoplasia? An update on genes and subtypes. Orphanet J Rare Dis. 2018;13(1):92.

Article  Google Scholar 

Agamy O, Ben ZB, Lev D, Marcus B, Fine D, Su D, et al. Mutations disrupting Selenocysteine formation cause progressive Cerebello-cerebral atrophy. Am J Hum Genet. 2010;87:538–44.

CAS  Article  Google Scholar 

Anttonen AK, Hilander T, Linnankivi T, Isohanni P, French RL, Liu Y, et al. Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate. Neurology. 2015;85(4):306–15.

CAS  Article  Google Scholar 

Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, et al. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain. 2011;134(1):143–56.

Article  Google Scholar 

Pavlidou E, Salpietro V, Phadke R, Hargreaves IP, Batten L, McElreavy K, et al. Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency. Eur J Paediatr Neurol. 2016;20(3):483–8.

Article  Google Scholar 

Namavar Y, Barth PG, Poll-The BT, Baas F. Classifification, diagnosis and potential mechanisms in pontocerebellar hypoplasia. Orphanet J Rare Dis. 2011;6:50.

Article  Google Scholar 

Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, et al. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet. 2008;40(9):1113–8.

CAS  Article  Google Scholar 

Iwama K, Sasaki M, Hirabayashi S, Ohba C, Iwabuchi E, Miyatake S, et al. Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations. J Hum Genet. 2016;61(6):527–31.

CAS  Article  Google Scholar 

Palioura S, Sherrer RL, Steitz TA, Söll D, Simonovic M. The human SepSecStRNASec complex reveals the mechanism of selenocysteine formation. Science. 2009;325:321–5.

CAS  Article  Google Scholar 

Yuan J, Palioura S, Salazar JC, Su D, O’Donoghue P, Hohn MJ, et al. RNA-dependent conversion of phosphoserine forms selenocysteine in eukaryotes and archaea. Proc Natl Acad Sci U S A. 2006;103(50):18923–7.

CAS  Article  Google Scholar 

Wirth EK, Bharathi BS, Hatfifield D, Conrad M, Brielmeier M, Schweizer U. Cerebellar hypoplasia in mice lacking selenoprotein biosynthesis in neurons. Biol Trace Elem Res. 2014;158:203–10.

CAS  Article  Google Scholar 

Bellinger FP, Raman AV, Reeves MA, Berry MJ. Regulation and function of selenoproteins in human disease. Biochem J. 2009;422:11–22.

CAS  Article  Google Scholar 

Puppala AK, French RL, Matthies D, Baxa U, Subramaniam S, Simonović M. Structural basis for early-onset neurological disorders caused by mutations in human selenocysteine synthase. Nature. 2016;6:32563.

CAS  Google Scholar 

Olson HE, Kelly M, LaCoursiere CM, Pinsky R, Tambunan D, Shain C, et al. Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. Ann Neurol. 2017;81:419–29.

CAS  Article  Google Scholar 

Ben-Zeev B, Hoffman C, Lev D, Watemberg N, Malinger G, Brand N, Lerman-Sagie T. Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia. J Med Genet. 2003;40(8):e96.

CAS  Article  Google Scholar 

Arrudi-Moreno M, Fernández-Gómez A, Peña-Segura JL. A new mutation in the SEPSECS gene related to pontocerebellar hypoplasia type 2D. Med Clin. 2021;156(2):94–5.

CAS  Article  Google Scholar 

Rudnik-Schöneborn S, Barth PG, Zerres K. Pontocerebellar hypoplasia. Am J Med Genet C Semin Med Genet. 2014;166C(2):173–83.

Article  Google Scholar 

Fradejas-Villar N. Consequences of mutations and inborn errors of selenoprotein biosynthesis and functions. Free Radic Biol Med. 2018;127:206–14.

CAS  Article  Google Scholar 

Schoenmakers E, Chatterjee K. Human Disorders Affecting the Selenocysteine Incorporation Pathway Cause Systemic Selenoprotein Defificiency. Antioxid Redox Signal. 2020;33(7):481–97.

CAS  Article  Google Scholar 

Schoenmakers E, Chatterjee K. Human genetic disorders resulting in systemic selenoprotein deficiency. Int J Mol Sci. 2021;22(23):12927.

CAS  Article  Google Scholar 

Makrythanasis P, Nelis M, Santoni FA, Guipponi M, Vannier A, Béna F, et al. Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. Hum Mutat. 2014;35(10):1203–10.

CAS  Article  Google Scholar 

Zhu X, Petrovski S, Xie P, Ruzzo EK, Lu Y-F, McSweeney KM, et al. Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. Genet Med. 2015;17(10):774–81.

CAS  Article  Google Scholar 

Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS, Alzahrani F, et al. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep. 2015;10(2):148–61.

CAS  Article  Google Scholar 

Van Dijk T, Vermeij JD, van Koningsbruggen S, Lakeman P, Baas F, Poll-The BT. A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia. J Inherit Metab Dis. 2018;41(5):897–8.

Article  Google Scholar 

Hengel H, Buchert R, Sturm M, Haack TB, Schelling Y, Mahajnah M, et al. First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is effificient and facilitates disease gene discovery. Eur J Hum Genet. 2020;28(8):1034–43.

CAS  Article  Google Scholar 

Nejabat M, Inaloo S, Sheshdeh AT, Bahramjahan S, Sarvestani FM, Katibeh P, et al. Genetic testing in various neurodevelopmental disorders which manifest as cerebral palsy: a case study from Iran. Front Pediatr. 2021;9:734946.

Article  Google Scholar