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Yang, C. CLCN2-Related Leukoencephalopathy. Encyclopedia. Available online: https://encyclopedia.pub/entry/5081 (accessed on 22 September 2026).
Yang C. CLCN2-Related Leukoencephalopathy. Encyclopedia. Available at: https://encyclopedia.pub/entry/5081. Accessed September 22, 2026.
Yang, Catherine. "CLCN2-Related Leukoencephalopathy" Encyclopedia, https://encyclopedia.pub/entry/5081 (accessed September 22, 2026).
Yang, C. (2020, December 24). CLCN2-Related Leukoencephalopathy. In Encyclopedia. https://encyclopedia.pub/entry/5081
Yang, Catherine. "CLCN2-Related Leukoencephalopathy." Encyclopedia. Web. 24 December, 2020.
CLCN2-Related Leukoencephalopathy
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/clcn2-related-leukoencephalopathy

CLCN2-related leukoencephalopathy is a disorder that affects the brain. People with this condition have neurological problems that become apparent anytime from childhood to adulthood; the problems generally do not worsen much over time. Most affected individuals have difficulty with coordination and balance (ataxia) but can walk without support, and many have frequent headaches. Individuals diagnosed in childhood usually also have learning disabilities, while those whose symptoms begin in adulthood typically also have vision problems. These vision problems are due to breakdown of the light-sensing tissue at the back of the eyes (retinopathy) or degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. Some affected individuals have mild muscle stiffness (spasticity). Affected males are unable to father children (infertile).

genetic conditions

References

  1. Gaitán-Peñas H, Apaja PM, Arnedo T, Castellanos A, Elorza-Vidal X, Soto D,Gasull X, Lukacs GL, Estévez R. Leukoencephalopathy-causing CLCN2 mutations areassociated with impaired Cl(-) channel function and trafficking. J Physiol. 2017 Nov 15;595(22):6993-7008. doi: 10.1113/JP275087.
  2. Giorgio E, Vaula G, Benna P, Lo Buono N, Eandi CM, Dino D, Mancini C,Cavalieri S, Di Gregorio E, Pozzi E, Ferrero M, Giordana MT, Depienne C, BruscoA. A novel homozygous change of CLCN2 (p.His590Pro) is associated with asubclinical form of leukoencephalopathy with ataxia (LKPAT). J Neurol NeurosurgPsychiatry. 2017 Oct;88(10):894-896. doi: 10.1136/jnnp-2016-315525.
  3. Stölting G, Fischer M, Fahlke C. CLC channel function and dysfunction inhealth and disease. Front Physiol. 2014 Oct 7;5:378. doi:10.3389/fphys.2014.00378.
  4. Wang H, Xu M, Kong Q, Sun P, Yan F, Tian W, Wang X. Research and progress onClC‑2 (Review). Mol Med Rep. 2017 Jul;16(1):11-22. doi: 10.3892/mmr.2017.6600.
  5. Zeydan B, Uygunoglu U, Altintas A, Saip S, Siva A, Abbink TEM, van der KnaapMS, Yalcinkaya C. Identification of 3 Novel Patients with CLCN2-RelatedLeukoencephalopathy due to CLCN2 Mutations. Eur Neurol. 2017;78(3-4):125-127.doi: 10.1159/000478089.
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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 : Catherine Yang
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Entry Collection: MedlinePlus
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Update Date: 24 Dec 2020
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