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Articles de revues sur le sujet « Pontocerebellar hypoplasia »

Auteur : Grafiati

Publié le 4 juin 2021

Mis à jour le 1 février 2022

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1

Svrčinová, Tereza, Vladimíra Sládková, Michaela Kaiserová, and Petr Kaňovský. "Pontocerebellar hypoplasia." Neurologie pro praxi 18, no. 1 (2017): 58–61. http://dx.doi.org/10.36290/neu.2017.064.

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2

Rudnik-Schöneborn, Sabine, Peter G. Barth, and Klaus Zerres. "Pontocerebellar hypoplasia." American Journal of Medical Genetics Part C: Seminars in Medical Genetics 166, no. 2 (2014): 173–83. http://dx.doi.org/10.1002/ajmg.c.31403.

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3

Dadali, E. I., I. A. Akimova, N. A. Semenova, et al. "Clinical and genetic characteristics of ponto-cerebellar hypoplasia caused by mutations in the TSEN54 gene (OMIM: 277470)." Neuromuscular Diseases 9, no. 2 (2019): 30–36. http://dx.doi.org/10.17650/2222-8721-2019-9-2-30-36.

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Introduction. The description of the clinical and genetic characteristics of eight patients with autosomal-recessive variant pontocerebellar hypoplasia due to mutations in the TSEN54 gene.Purpose. Description of clinical and genetic characteristics of Russian patients with type 2A and type 4 of pontocerebellar hypoplasia.Materials and methods. The diagnosis of pontocerebellar hypoplasia was established on the basis of the specific features of clinical manifestations and detection of mutations in the gene TSEN54 based on the analysis of the results of exome sequencing. Results. 8 patients with

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4

Millichap, J. Gordon. "Pontocerebellar Hypoplasia Type 1." Pediatric Neurology Briefs 23, no. 4 (2009): 27. http://dx.doi.org/10.15844/pedneurbriefs-23-4-4.

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5

Szabó, Nóra, Hajnalka Szabó, Tibor Hortobágyi, Sándor Túri, and László Sztriha. "Pontocerebellar Hypoplasia Type 1." Pediatric Neurology 39, no. 4 (2008): 286–88. http://dx.doi.org/10.1016/j.pediatrneurol.2008.06.017.

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6

Al Shawan, Saad A., George W. Bruyn, and Saleh M. Al Deeb. "Lissencephaly With Pontocerebellar Hypoplasia." Journal of Child Neurology 11, no. 3 (1996): 241–44. http://dx.doi.org/10.1177/088307389601100316.

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7

Grosso, Salvatore, Rosa Mostadini, Maddalena Cioni, Paolo Galluzzi, Guido Morgese, and Paolo Balestri. "Pontocerebellar hypoplasia type 2." Journal of Neurology 249, no. 5 (2002): 596–600. http://dx.doi.org/10.1007/s004150200069.

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8

Hevner, Robert F. "Progress on pontocerebellar hypoplasia." Acta Neuropathologica 114, no. 4 (2007): 401–2. http://dx.doi.org/10.1007/s00401-007-0282-x.

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9

Ozcora, Gul, Dilek Aktas, and Sefer Kumandas. "CLP1 associated pontocerebellar hypoplasia." Annals of Medical Research 28, no. 3 (2021): 614. http://dx.doi.org/10.5455/annalsmedres.2020.03.183.

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10

Barth, Peter G. "Pontocerebellar hypoplasia — how many types?" European Journal of Paediatric Neurology 4, no. 4 (2000): 161–62. http://dx.doi.org/10.1053/ejpn.2000.0294.

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11

Ajibola, AJ, SA Omar, and KH Friderici. "Genetic mutation in pontocerebellar hypoplasia." Clinical Genetics 77, no. 2 (2010): 197–99. http://dx.doi.org/10.1111/j.1399-0004.2009.01283.x.

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12

Di Giovambattista, Anna Paola, Itxaropena Jácome Querejeta, Purificación Ventura Faci, Gerardo Rodríguez Martínez, and Feliciano Ramos Fuentes. "Familial EXOSC3-related pontocerebellar hypoplasia." Anales de Pediatría (English Edition) 86, no. 5 (2017): 284–86. http://dx.doi.org/10.1016/j.anpede.2016.09.004.

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13

Uhl, Markus, Helga Pawlik, Jörg Laubenberger, et al. "MR findings in pontocerebellar hypoplasia." Pediatric Radiology 28, no. 7 (1998): 547–51. http://dx.doi.org/10.1007/s002470050410.

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14

Loy, Kai Yong Jeremy, Mohammed Usman, Hsu-en Lee, and Philip Brock. "Affective disorder associated with pontocerebellar hypoplasia." Australasian Psychiatry 20, no. 5 (2012): 444. http://dx.doi.org/10.1177/1039856212447663.

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15

Rüsch, Christina T., Bigna K. Bölsterli, Raimund Kottke, Robert Steinfeld, and Eugen Boltshauser. "Pontocerebellar Hypoplasia: a Pattern Recognition Approach." Cerebellum 19, no. 4 (2020): 569–82. http://dx.doi.org/10.1007/s12311-020-01135-5.

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16

Namavar, Yasmin, David Chitayat, Peter G. Barth, et al. "TSEN54 mutations cause pontocerebellar hypoplasia type 5." European Journal of Human Genetics 19, no. 6 (2011): 724–26. http://dx.doi.org/10.1038/ejhg.2011.8.

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17

Tsao, Chang-Yong, Jerry Mendell, Zarife Sahenk, Jerome Rusin, and Daniel Boue. "Hypotonia, Weakness, and Pontocerebellar Hypoplasia in Siblings." Seminars in Pediatric Neurology 15, no. 4 (2008): 151–53. http://dx.doi.org/10.1016/j.spen.2008.09.001.

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18

Joseph, Jeffrey T., A. Micheil Innes, Amanda C. Smith, et al. "Neuropathologic Features of Pontocerebellar Hypoplasia Type 6." Journal of Neuropathology & Experimental Neurology 73, no. 11 (2014): 1009–25. http://dx.doi.org/10.1097/nen.0000000000000123.

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19

Budde, Birgit S., Yasmin Namavar, Peter G. Barth, et al. "tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia." Nature Genetics 40, no. 9 (2008): 1113–18. http://dx.doi.org/10.1038/ng.204.

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20

de Koning, T., L. de Vries, F. Groenendaal, et al. "Pontocerebellar Hypoplasia Associated with Respiratory-Chain Defects." Neuropediatrics 30, no. 02 (1999): 93–95. http://dx.doi.org/10.1055/s-2007-973467.

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21

Cassandrini, D., R. Biancheri, A. Tessa, et al. "Pontocerebellar hypoplasia: Clinical, pathologic, and genetic studies." Neurology 75, no. 16 (2010): 1459–64. http://dx.doi.org/10.1212/wnl.0b013e3181f88173.

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22

Sánchez-Albisua, Iciar, Saskia Frölich, Peter G. Barth, Maja Steinlin, and Ingeborg Krägeloh-Mann. "Natural course of pontocerebellar hypoplasia type 2A." Orphanet Journal of Rare Diseases 9, no. 1 (2014): 70. http://dx.doi.org/10.1186/1750-1172-9-70.

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23

Okanishi, Tohru, Yuka Mori, Kenji Shirai, et al. "Delayed gyration with pontocerebellar hypoplasia type 1." Brain and Development 32, no. 3 (2010): 258–62. http://dx.doi.org/10.1016/j.braindev.2009.01.006.

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24

Accogli, Andrea, Laura Russell, Guillaume Sébire, et al. "Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia." neurogenetics 20, no. 2 (2019): 103–8. http://dx.doi.org/10.1007/s10048-019-00572-7.

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25

Barth, Peter G., Eleonora Aronica, Linda de Vries, et al. "Pontocerebellar hypoplasia type 2: a neuropathological update." Acta Neuropathologica 114, no. 4 (2007): 373–86. http://dx.doi.org/10.1007/s00401-007-0263-0.

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26

Rudaks, Laura I., Lynette Moore, Karen L. Shand, Christopher Wilkinson, and Christopher P. Barnett. "Novel TSEN54 Mutation Causing Pontocerebellar Hypoplasia Type 4." Pediatric Neurology 45, no. 3 (2011): 185–88. http://dx.doi.org/10.1016/j.pediatrneurol.2011.05.009.

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27

Dilber, Embiya, Fatma Müjgan Aynaci, and Ali Ahmetoglu. "Pontocerebellar Hypoplasia in Two Siblings With Dysmorphic Features." Journal of Child Neurology 17, no. 1 (2002): 64–66. http://dx.doi.org/10.1177/088307380201700119.

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28

Sans-Fitó, Anna, Jaime Campistol-Plana, Maria José Mas-Salguero, Pilar Póo-Argüelles, and Emilio Fernández-Álvarez. "Pontocerebellar Hypoplasia Type 2 and Reye-Like Syndrome." Journal of Child Neurology 17, no. 2 (2002): 132–34. http://dx.doi.org/10.1177/088307380201700208.

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29

Barth, Peter G., Monique M. Ryan, Richard I. Webster, et al. "Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2)." Neuromuscular Disorders 18, no. 1 (2008): 52–58. http://dx.doi.org/10.1016/j.nmd.2007.08.001.

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30

Chaves-Vischer, Virginie, Gian-Paolo Pizzolato, Sylviane Hanquinet, Alexandre Maret, Armand Bottani, and Charles-Antoine Haenggeli. "Early fatal pontocerebellar hypoplasia in premature twin sisters." European Journal of Paediatric Neurology 4, no. 4 (2000): 171–76. http://dx.doi.org/10.1053/ejpn.2000.0295.

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31

Sankhyan, Naveen, Ananthanarayanan Kasinathan, TessaVan Dijk, Paramjeet Singh, and Pratibha Singhi. "Clinico-radiological profile of children with pontocerebellar hypoplasia." Journal of Pediatric Neurosciences 15, no. 2 (2020): 94. http://dx.doi.org/10.4103/jpn.jpn_6_19.

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32

Namavar, Yasmin, Peter G. Barth, Paul R. Kasher, et al. "Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia." Brain 134, no. 1 (2010): 143–56. http://dx.doi.org/10.1093/brain/awq287.

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33

Namavar, Yasmin, Peter G. Barth, Bwee Poll-The, and Frank Baas. "Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia." Orphanet Journal of Rare Diseases 6, no. 1 (2011): 50. http://dx.doi.org/10.1186/1750-1172-6-50.

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34

Jinnou, Hideo, Tohru Okanishi, Hideo Enoki, and Shigeru Ohki. "Pontocerebellar hypoplasia type 3 with tetralogy of Fallot." Brain and Development 34, no. 5 (2012): 392–95. http://dx.doi.org/10.1016/j.braindev.2011.07.011.

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35

Barth, P. G., G. Blennow, H.-G. Lenard, et al. "The syndrome of autosornal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): Compiled data from 10 pedigrees." Neurology 45, no. 2 (1995): 311–17. http://dx.doi.org/10.1212/wnl.45.2.311.

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36

Wallace, Alexandra, Paul Caruso, and Amel Karaa. "A Newborn with Severe Ventriculomegaly: Expanding the PPP2R1A Gene Mutation Phenotype." Journal of Pediatric Genetics 08, no. 04 (2019): 240–43. http://dx.doi.org/10.1055/s-0039-1692414.

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AbstractProtein phosphatase 2A (PP2A) is a heterotrimeric protein serine/threonine phosphatase that regulates a diverse range of cellular activities. The PPP2R1A gene on chromosome 19 (19q13.41) encodes the α isoform of the scaffolding subunit of the PP2A holoenzyme, which functions to link the catalytic subunit to the regulatory subunit. Here we present a case of a newborn boy with a novel PPP2R1A gene mutation (c.548G>A; p.Arg183Gln) with severe lateral and third ventriculomegaly, hypoplastic corpus callosum, and pontocerebellar hypoplasia. To our knowledge, this is the sixth case reporte

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37

Haye, D., L. Perrin, S. Valence, D. Rodriguez, and L. Burglen. "Extremely severe vermis hypoplasia: a good clue for pontocerebellar hypoplasia type 8 diagnosis." European Journal of Paediatric Neurology 21 (June 2017): e57. http://dx.doi.org/10.1016/j.ejpn.2017.04.911.

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38

Fons, C., A. Ormazabal, R. Artuch, E. Fernandez, J. Campistol, and A. Garćla. "DMP03 Pontocerebellar hypoplasia type 2: clinical and biochemical findings." European Journal of Paediatric Neurology 11 (September 2007): 77. http://dx.doi.org/10.1016/s1090-3798(08)70542-7.

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39

Sánchez-Albisua, I., S. Frölich, and I. Krägeloh-Mann. "O39 – 1826 Natural course of pontocerebellar hypoplasia type 2." European Journal of Paediatric Neurology 17 (September 2013): S13. http://dx.doi.org/10.1016/s1090-3798(13)70041-2.

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40

Coppola, Giangennaro, Ida Muras, and Antonio Pascotto. "Pontocerebellar hypoplasia type 2 (PCH2): report of two siblings." Brain and Development 22, no. 3 (2000): 188–92. http://dx.doi.org/10.1016/s0387-7604(00)00093-0.

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41

Jacob, Francois D., Simona Hasal, and Helly R. Goez. "Pontocerebellar Hypoplasia Type 3 With Severe Vitamin A Deficiency." Pediatric Neurology 44, no. 2 (2011): 147–49. http://dx.doi.org/10.1016/j.pediatrneurol.2010.09.002.

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42

Zafeiriou, Dimitrios I., Athina Ververi, Athanasia Anastasiou, Vasiliki Soubasi, and Euthymia Vargiami. "Pontocerebellar Hypoplasia in Extreme Prematurity: Clinical and Neuroimaging Findings." Pediatric Neurology 48, no. 1 (2013): 48–51. http://dx.doi.org/10.1016/j.pediatrneurol.2012.09.003.

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43

Zafeiriou, Dimitrios I., Athina Ververi, Anastasia Tsitlakidou, Athanasia Anastasiou, and Euthymia Vargiami. "Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2." Neuromuscular Disorders 23, no. 2 (2013): 116–19. http://dx.doi.org/10.1016/j.nmd.2012.08.004.

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44

Stoll, Marion, Hooiling Teoh, James Lee, et al. "Novel motor phenotypes in patients withVRK1mutations without pontocerebellar hypoplasia." Neurology 87, no. 1 (2016): 65–70. http://dx.doi.org/10.1212/wnl.0000000000002813.

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45

Ahmed, M. Y., B. A. Chioza, A. Rajab, et al. "Loss of PCLO function underlies pontocerebellar hypoplasia type III." Neurology 84, no. 17 (2015): 1745–50. http://dx.doi.org/10.1212/wnl.0000000000001523.

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46

Battini, Roberta, Stefano D’Arrigo, Denise Cassandrini, et al. "Novel Mutations in TSEN54 in Pontocerebellar Hypoplasia Type 2." Journal of Child Neurology 29, no. 4 (2013): 520–25. http://dx.doi.org/10.1177/0883073812470002.

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47

Gallant, Natalie M., Erin Baldwin, Noriko Salamon, Katrina M. Dipple, and Fabiola Quintero-Rivera. "Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion." American Journal of Medical Genetics Part A 155, no. 11 (2011): 2871–78. http://dx.doi.org/10.1002/ajmg.a.34286.

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48

Anderson, Christopher, Justin H. Davies, Lilias Lamont, and Nicola Foulds. "Early pontocerebellar hypoplasia with vanishing testes: A new syndrome?" American Journal of Medical Genetics Part A 155, no. 4 (2011): 667–72. http://dx.doi.org/10.1002/ajmg.a.33897.

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49

Миньженкова, М. Е., Ж. Г. Маркова, Т. В. Маркова, and Н. В. Шилова. "Clinical and molecular-genetics diagnosis of microdeletion Xp11.4." Nauchno-prakticheskii zhurnal «Medicinskaia genetika», no. 3() (March 30, 2020): 35–36. http://dx.doi.org/10.25557/2073-7998.2020.03.35-36.

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Представлены клинические и молекулярно-генетические результаты обследования девочки с задержкой психомоторного, речевого и физического развития, микроцефалией, гипоплазией моста и мозжечка. Хромосомный микроматричный анализ позволил выявить делецию Хр11.4, затрагивающую ген CASK, который ассоциирован с клиническими проявлениями MICPCH-синдрома (mental retardation and microcephaly with pontine and cerebellar hypoplasia). Сlinical and molecular-genetic study results of a girl with developemental and psychomotor delay, lack of speech development, microcephaly, and pontocerebellar hypoplasia are p

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50

Krishnamurthy, Kritika, Amilcar A. Castellano-Sanchez, Christopher A. Febres-Aldana, Jyotsna Kochiyil, Carole Brathwaite, and Robert J. Poppiti. "Pontocerebellar Hypoplasia Maps to Chromosome 7q11.23: An Autopsy Case Report of a Novel Genetic Variant." Case Reports in Pediatrics 2019 (December 10, 2019): 1–5. http://dx.doi.org/10.1155/2019/7048537.

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Pontocerebellar hypoplasias are a group of autosomal recessive neurodevelopmetal disorders with varied phenotypic presentations and extensive genetic mutational landscape that are currently classified into ten subtypes. This classification is based predominantly on the genetic iterations as the phenotypic presentations are often broad and overlapping. Pontocerebellar hypoplasia type-3 (PCH3) is an autosomal recessive disorder characterized by a small cerebellar vermis, hyperreflexia, and seizures, described in Middle Eastern families in association with a homozygous truncating mutation of the

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