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Xu, C. Lissencephaly with Cerebellar Hypoplasia. Encyclopedia. Available online: https://encyclopedia.pub/entry/4567 (accessed on 29 September 2026).
Xu C. Lissencephaly with Cerebellar Hypoplasia. Encyclopedia. Available at: https://encyclopedia.pub/entry/4567. Accessed September 29, 2026.
Xu, Camila. "Lissencephaly with Cerebellar Hypoplasia" Encyclopedia, https://encyclopedia.pub/entry/4567 (accessed September 29, 2026).
Xu, C. (2020, December 24). Lissencephaly with Cerebellar Hypoplasia. In Encyclopedia. https://encyclopedia.pub/entry/4567
Xu, Camila. "Lissencephaly with Cerebellar Hypoplasia." Encyclopedia. Web. 24 December, 2020.
Lissencephaly with Cerebellar Hypoplasia
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/lissencephaly-with-cerebellar-hypoplasia

Lissencephaly with cerebellar hypoplasia (LCH) affects brain development, resulting in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. In addition, the part of the brain that coordinates movement is unusually small and underdeveloped (cerebellar hypoplasia). Other parts of the brain are also often underdeveloped in LCH, including the hippocampus, which plays a role in learning and memory, and the part of the brain that is connected to the spinal cord (the brainstem).

genetic conditions

References

  1. Chang BS, Duzcan F, Kim S, Cinbis M, Aggarwal A, Apse KA, Ozdel O, Atmaca M,Zencir S, Bagci H, Walsh CA. The role of RELN in lissencephaly andneuropsychiatric disease. Am J Med Genet B Neuropsychiatr Genet. 2007 Jan5;144B(1):58-63.
  2. Gressens P. Pathogenesis of migration disorders. Curr Opin Neurol. 2006Apr;19(2):135-40. Review.
  3. Hong SE, Shugart YY, Huang DT, Shahwan SA, Grant PE, Hourihane JO, Martin ND, Walsh CA. Autosomal recessive lissencephaly with cerebellar hypoplasia isassociated with human RELN mutations. Nat Genet. 2000 Sep;26(1):93-6. Erratum in:Nat Genet 2001 Feb;27(2):225.
  4. Kumar RA, Pilz DT, Babatz TD, Cushion TD, Harvey K, Topf M, Yates L, Robb S,Uyanik G, Mancini GM, Rees MI, Harvey RJ, Dobyns WB. TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronalmigration pathways converge on alpha tubulins. Hum Mol Genet. 2010 Jul15;19(14):2817-27. doi: 10.1093/hmg/ddq182.
  5. Ross ME, Swanson K, Dobyns WB. Lissencephaly with cerebellar hypoplasia (LCH):a heterogeneous group of cortical malformations. Neuropediatrics. 2001Oct;32(5):256-63.
  6. Zaki M, Shehab M, El-Aleem AA, Abdel-Salam G, Koeller HB, Ilkin Y, Ross ME,Dobyns WB, Gleeson JG. Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation. Am J Med Genet A. 2007 May1;143A(9):939-44.
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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 : Camila Xu
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Entry Collection: MedlinePlus
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Update Date: 24 Dec 2020
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