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Quoted phrase not found in phrase index: "Pontocerebellar hypoplasia type 8"
Page 1
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.
Kortüm F, Jamra RA, Alawi M, Berry SA, Borck G, Helbig KL, Tang S, Huhle D, Korenke GC, Hebbar M, Shukla A, Girisha KM, Steinlin M, Waldmeier-Wilhelm S, Montomoli M, Guerrini R, Lemke JR, Kutsche K. Kortüm F, et al. Eur J Hum Genet. 2018 May;26(5):695-708. doi: 10.1038/s41431-018-0098-2. Epub 2018 Feb 20. Eur J Hum Genet. 2018. PMID: 29463858 Free PMC article.
Pontocerebellar hypoplasia (PCH) represents a group of autosomal-recessive progressive neurodegenerative disorders of prenatal onset. ...Brain imaging data identified hypomyelination, hypoplasia of the cerebellum and pons, atrophy of the cerebral cortex, complete or …
Pontocerebellar hypoplasia (PCH) represents a group of autosomal-recessive progressive neurodegenerative disorders of prenatal …
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
Eggens VR, Barth PG, Niermeijer JM, Berg JN, Darin N, Dixit A, Fluss J, Foulds N, Fowler D, Hortobágyi T, Jacques T, King MD, Makrythanasis P, Máté A, Nicoll JA, O'Rourke D, Price S, Williams AN, Wilson L, Suri M, Sztriha L, Dijns-de Wissel MB, van Meegen MT, van Ruissen F, Aronica E, Troost D, Majoie CB, Marquering HA, Poll-Thé BT, Baas F. Eggens VR, et al. Orphanet J Rare Dis. 2014 Feb 13;9:23. doi: 10.1186/1750-1172-9-23. Orphanet J Rare Dis. 2014. PMID: 24524299 Free PMC article.
BACKGROUND: Pontocerebellar hypoplasia (PCH) represents a group of neurodegenerative disorders with prenatal onset. ...Patients in this cohort were referred with a tentative diagnose PCH type 1, 2, 4, 7 or unclassified PCH. Genetic analysis of the EXOSC3 gene …
BACKGROUND: Pontocerebellar hypoplasia (PCH) represents a group of neurodegenerative disorders with prenatal onset. ...Patient …
Analysis and classification of cerebellar malformations.
Patel S, Barkovich AJ. Patel S, et al. AJNR Am J Neuroradiol. 2002 Aug;23(7):1074-87. AJNR Am J Neuroradiol. 2002. PMID: 12169461 Free PMC article.
Patients with focal cerebellar dysplasia of the Joubert (n = 12) and rhombencephalosynapsis (n = 8) types had variable cerebral dysplasia. Patients with nonsyndromic focal cerebellar dysplasia (isolated focal cerebellar cortical dysplasia [n = 2], cerebellar heterotopia wi …
Patients with focal cerebellar dysplasia of the Joubert (n = 12) and rhombencephalosynapsis (n = 8) types had variable cerebral dyspl …
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.
Burglen L, Chantot-Bastaraud S, Garel C, Milh M, Touraine R, Zanni G, Petit F, Afenjar A, Goizet C, Barresi S, Coussement A, Ioos C, Lazaro L, Joriot S, Desguerre I, Lacombe D, des Portes V, Bertini E, Siffroi JP, de Villemeur TB, Rodriguez D. Burglen L, et al. Orphanet J Rare Dis. 2012 Mar 27;7:18. doi: 10.1186/1750-1172-7-18. Orphanet J Rare Dis. 2012. PMID: 22452838 Free PMC article.
BACKGROUND: Pontocerebellar hypoplasia (PCH) is a heterogeneous group of diseases characterized by lack of development and/or early neurodegeneration of cerebellum and brainstem. ...CONCLUSION: This study describes a new series of PCH female patients with CASK inact …
BACKGROUND: Pontocerebellar hypoplasia (PCH) is a heterogeneous group of diseases characterized by lack of development and/or …
A mild variant of pontocerebellar hypoplasia type 1 in a 12-year-old Indian boy.
Kalpana D, Parvathy L, Ahamed SM, Iype M, Kunju MP. Kalpana D, et al. Pediatr Neurol. 2009 Apr;40(4):302-5. doi: 10.1016/j.pediatrneurol.2008.11.009. Pediatr Neurol. 2009. PMID: 19302945
Pontocerebellar hypoplasia type 1 is associated with spinal anterior horn cell degeneration, microcephaly, congenital contractures, polyhydramnios, and respiratory insufficiency leading to death in infancy. ...This form is apparently the mildest variant of …
Pontocerebellar hypoplasia type 1 is associated with spinal anterior horn cell degeneration, microcephaly, congenital c …
Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy.
Karakaya M, Paketci C, Altmueller J, Thiele H, Hoelker I, Yis U, Wirth B. Karakaya M, et al. Am J Med Genet A. 2019 Aug;179(8):1580-1584. doi: 10.1002/ajmg.a.61198. Epub 2019 May 18. Am J Med Genet A. 2019. PMID: 31102495 Review.
In addition to motor neuron degeneration, further neurologic or multisystemic pathologies in non-5q-SMAs are not seldom. Some of the non-5q-SMA phenotypes, such as pontocerebellar hypoplasia (PCH1), have been classified later as a different disease group due to dist …
In addition to motor neuron degeneration, further neurologic or multisystemic pathologies in non-5q-SMAs are not seldom. Some of the non-5q- …
Epilepsy in inherited metabolic disorders: a pediatric series.
Vitiello G, De Clemente V, Della Casa R, Romano A, Rosa M, Pascarella A, Riccitelli M, Parenti G, Del Giudice E. Vitiello G, et al. Minerva Pediatr. 2012 Oct;64(5):513-20. Minerva Pediatr. 2012. PMID: 22992533
An overview is given based on various criteria such as pathogenetic background, seizure type, age of onset, EEG, neuroimaging data, treatability. Seizure types were: focal (24 patients), generalized (13 patients), febrile (3 patients), and hypoglycemic (8 patients w …
An overview is given based on various criteria such as pathogenetic background, seizure type, age of onset, EEG, neuroimaging data, t …
Posterior fossa imaging in 158 children with ataxia.
Boddaert N, Desguerre I, Bahi-Buisson N, Romano S, Valayannopoulos V, Saillour Y, Seidenwurm D, Grevent D, Berteloot L, Lebre AS, Zilbovicius M, Puget S, Salomon R, Attie-Bitach T, Munnich A, Brunelle F, de Lonlay P. Boddaert N, et al. J Neuroradiol. 2010 Oct;37(4):220-30. doi: 10.1016/j.neurad.2009.12.009. Epub 2010 Apr 7. J Neuroradiol. 2010. PMID: 20378176
RESULTS: In the vermian dysgenesis group, a specific genetic diagnosis was obtained in eight children (8/27) and all of the mutated genes (AHI1 (JBS3), CEP290 (JBS5), TMEM67 (JBS6), and RPGRIP1L (JBS7)) are involved in primary cilia function. In the group of pontocerebe …
RESULTS: In the vermian dysgenesis group, a specific genetic diagnosis was obtained in eight children (8/27) and all of the mutated g …
Targeted carrier screening for four recessive disorders: high detection rate within a founder population.
Mathijssen IB, Henneman L, van Eeten-Nijman JM, Lakeman P, Ottenheim CP, Redeker EJ, Ottenhof W, Meijers-Heijboer H, van Maarle MC. Mathijssen IB, et al. Eur J Med Genet. 2015 Mar;58(3):123-8. doi: 10.1016/j.ejmg.2015.01.004. Epub 2015 Jan 30. Eur J Med Genet. 2015. PMID: 25641760
In a genetically isolated community in the Netherlands four severe recessive genetic disorders occur at relatively high frequency (pontocerebellar hypoplasia type 2 (PCH2), fetal akinesia deformation sequence (FADS), rhizomelic chondrodysplasia punctata ty …
In a genetically isolated community in the Netherlands four severe recessive genetic disorders occur at relatively high frequency (pontoc …
TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family.
Maraş-Genç H, Uyur-Yalçın E, Rosti RÖ, Gleeson JG, Kara B. Maraş-Genç H, et al. Turk J Pediatr. 2015 May-Jun;57(3):286-9. Turk J Pediatr. 2015. PMID: 26701950 Free PMC article.
The pontocerebellar hypoplasias (PCHs) are a heterogeneous group of autosomal recessive disorders characterized by hypoplasia of the ventral pons and cerebellum, with variable cerebral involvement and severe psychomotor retardation. Eight different subtypes (PCH1-8) have b …
The pontocerebellar hypoplasias (PCHs) are a heterogeneous group of autosomal recessive disorders characterized by hypoplasia of the ventral …