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Tang, P. HBSL. Encyclopedia. Available online: https://encyclopedia.pub/entry/6056 (accessed on 20 September 2026).
Tang P. HBSL. Encyclopedia. Available at: https://encyclopedia.pub/entry/6056. Accessed September 20, 2026.
Tang, Peter. "HBSL" Encyclopedia, https://encyclopedia.pub/entry/6056 (accessed September 20, 2026).
Tang, P. (2021, January 04). HBSL. In Encyclopedia. https://encyclopedia.pub/entry/6056
Tang, Peter. "HBSL." Encyclopedia. Web. 04 January, 2021.
HBSL
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/hypomyelination-with-brainstem-and-spinal-cord-involvement-and-leg-spasticity

Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) is a condition that affects the brain and spinal cord (central nervous system). In particular, the condition affects nerves in specific regions (called tracts) within the spinal cord and the brainstem, which is the part of the brain that connects to the spinal cord. HBSL is a form of leukodystrophy, which is a group of conditions that involve abnormalities of the nervous system's white matter. The white matter consists of nerve fibers covered by a fatty substance, called myelin, that insulates the fibers and promotes the rapid transmission of nerve impulses. In HBSL, the nervous system has a reduced ability to form myelin (hypomyelination).

genetic conditions

References

  1. Fröhlich D, Suchowerska AK, Spencer ZH, von Jonquieres G, Klugmann CB, BongersA, Delerue F, Stefen H, Ittner LM, Fath T, Housley GD, Klugmann M. Invivocharacterization of the aspartyl-tRNA synthetase DARS: Homing in on theleukodystrophy HBSL. Neurobiol Dis. 2017 Jan;97(Pt A):24-35. doi:10.1016/j.nbd.2016.10.008.
  2. Fröhlich D, Suchowerska AK, Voss C, He R, Wolvetang E, von Jonquieres G,Simons C, Fath T, Housley GD, Klugmann M. Expression Pattern of the Aspartyl-tRNASynthetase DARS in the Human Brain. Front Mol Neurosci. 2018 Mar 20;11:81. doi:10.3389/fnmol.2018.00081.
  3. Taft RJ, Vanderver A, Leventer RJ, Damiani SA, Simons C, Grimmond SM, MillerD, Schmidt J, Lockhart PJ, Pope K, Ru K, Crawford J, Rosser T, de Coo IF, Juneja M, Verma IC, Prabhakar P, Blaser S, Raiman J, Pouwels PJ, Bevova MR, Abbink TE,van der Knaap MS, Wolf NI. Mutations in DARS cause hypomyelination with brainstem and spinal cord involvement and leg spasticity. Am J Hum Genet. 2013 May2;92(5):774-80. doi: 10.1016/j.ajhg.2013.04.006.
  4. Wolf NI, Toro C, Kister I, Latif KA, Leventer R, Pizzino A, Simons C, AbbinkTE, Taft RJ, van der Knaap MS, Vanderver A. DARS-associated leukoencephalopathycan mimic a steroid-responsive neuroinflammatory disorder. Neurology. 2015 Jan20;84(3):226-30. doi: 10.1212/WNL.0000000000001157.
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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 : Peter Tang
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Entry Collection: MedlinePlus
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Update Date: 04 Jan 2021
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