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Xu, R. Pontocerebellar Hypoplasia. Encyclopedia. Available online: https://encyclopedia.pub/entry/5396 (accessed on 21 September 2026).
Xu R. Pontocerebellar Hypoplasia. Encyclopedia. Available at: https://encyclopedia.pub/entry/5396. Accessed September 21, 2026.
Xu, Rita. "Pontocerebellar Hypoplasia" Encyclopedia, https://encyclopedia.pub/entry/5396 (accessed September 21, 2026).
Xu, R. (2020, December 24). Pontocerebellar Hypoplasia. In Encyclopedia. https://encyclopedia.pub/entry/5396
Xu, Rita. "Pontocerebellar Hypoplasia." Encyclopedia. Web. 24 December, 2020.
Pontocerebellar Hypoplasia
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/pontocerebellar-hypoplasia

Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. The term "pontocerebellar" refers to the pons and the cerebellum, which are the brain structures that are most severely affected in many forms of this disorder. The pons is located at the base of the brain in an area called the brainstem, where it transmits signals between the cerebellum and the rest of the brain. The cerebellum, which is located at the back of the brain, normally coordinates movement. The term "hypoplasia" refers to the underdevelopment of these brain regions.

genetic conditions

References

  1. Baas F, van Dijk T. EXOSC3 Pontocerebellar Hypoplasia. 2014 Aug 21 [updated2020 Sep 24]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK236968/
  2. Barth PG, Aronica E, de Vries L, Nikkels PG, Scheper W, Hoozemans JJ, Poll-TheBT, Troost D. Pontocerebellar hypoplasia type 2: a neuropathological update. ActaNeuropathol. 2007 Oct;114(4):373-86.
  3. Cassandrini D, Biancheri R, Tessa A, Di Rocco M, Di Capua M, Bruno C, DenoraPS, Sartori S, Rossi A, Nozza P, Emma F, Mezzano P, Politi MR, Laverda AM, ZaraF, Pavone L, Simonati A, Leuzzi V, Santorelli FM, Bertini E. Pontocerebellarhypoplasia: clinical, pathologic, and genetic studies. Neurology. 2010 Oct19;75(16):1459-64. doi: 10.1212/WNL.0b013e3181f88173.
  4. Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Eggens VR, Krägeloh-Mann I, De Meirleir L, King M, Graham JM Jr, von Moers A, Knoers N, Sztriha L,Korinthenberg R; PCH Consortium, Dobyns WB, Baas F, Poll-The BT. Clinical,neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain. 2011Jan;134(Pt 1):143-56. doi: 10.1093/brain/awq287.
  5. Namavar Y, Barth PG, Poll-The BT, Baas F. Classification, diagnosis andpotential mechanisms in pontocerebellar hypoplasia. Orphanet J Rare Dis. 2011 Jul12;6:50. doi: 10.1186/1750-1172-6-50. Review.
  6. Rudnik-Schöneborn S, Barth PG, Zerres K. Pontocerebellar hypoplasia. Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):173-83. doi: 10.1002/ajmg.c.31403.
  7. Rudnik-Schöneborn S, Senderek J, Jen JC, Houge G, Seeman P, Puchmajerová A,Graul-Neumann L, Seidel U, Korinthenberg R, Kirschner J, Seeger J, Ryan MM,Muntoni F, Steinlin M, Sztriha L, Colomer J, Hübner C, Brockmann K, Van MaldergemL, Schiff M, Holzinger A, Barth P, Reardon W, Yourshaw M, Nelson SF, Eggermann T,Zerres K. Pontocerebellar hypoplasia type 1: clinical spectrum and relevance ofEXOSC3 mutations. Neurology. 2013 Jan 29;80(5):438-46. doi:10.1212/WNL.0b013e31827f0f66.
  8. Sánchez-Albisua I, Frölich S, Barth PG, Steinlin M, Krägeloh-Mann I. Naturalcourse of pontocerebellar hypoplasia type 2A. Orphanet J Rare Dis. 2014 May5;9:70. doi: 10.1186/1750-1172-9-70.
  9. van Dijk T, Baas F. TSEN54 Pontocerebellar Hypoplasia. 2009 Sep 8 [updated2020 May 28]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK9673/
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
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Entry Collection: MedlinePlus
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Update Date: 24 Dec 2020
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