CLCN2-related leukoencephalopathy
Última actualización 18 Aug 2020
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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).
Descripción
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).
Rarely, affected individuals have dizziness (vertigo), ringing in the ears (tinnitus), hearing loss, episodes of abnormal movements (paroxysmal kinesigenic dyskinesia), or psychiatric disorders. However, it is unclear whether these are features of CLCN2-related leukoencephalopathy or coincidental findings.
The neurological problems in CLCN2-related leukoencephalopathy are caused by abnormalities in the brain. People with this condition have leukoencephalopathy, an abnormality of the brain's white matter that can be detected with medical imaging. White matter consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses. In affected individuals, the myelin becomes fluid-filled (edematous), impairing nerve impulse transmission.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Otros nombres
CC2L
Leukoencephalopathy with ataxia
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Leukoencephalopathy with white matter edema
LKPAT
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Lecturas adicionales y referencias
- CLCN2-related leukoencephalopathy; MedlinePlus, National Library of Medicine.
- Gaitan-Penas H, Apaja PM, Arnedo T, Castellanos A, Elorza-Vidal X, Soto D, Gasull X, Lukacs GL, Estevez R. Leukoencephalopathy-causing CLCN2 mutations are associated with impaired Cl- channel function and trafficking. J Physiol. 2017 Nov 15;595(22):6993-7008. doi: 10.1113/JP275087. Epub 2017 Oct 9.
- 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, Brusco A. A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT). J Neurol Neurosurg Psychiatry. 2017 Oct;88(10):894-896. doi: 10.1136/jnnp-2016-315525. Epub 2017 May 4. No abstract available.
- Stolting G, Fischer M, Fahlke C. CLC channel function and dysfunction in health and disease. Front Physiol. 2014 Oct 7;5:378. doi: 10.3389/fphys.2014.00378. eCollection 2014.
- Wang H, Xu M, Kong Q, Sun P, Yan F, Tian W, Wang X. Research and progress on ClC‑2 (Review). Mol Med Rep. 2017 Jul;16(1):11-22. doi: 10.3892/mmr.2017.6600. Epub 2017 May 18.
- Zeydan B, Uygunoglu U, Altintas A, Saip S, Siva A, Abbink TEM, van der Knaap MS, Yalcinkaya C. Identification of 3 Novel Patients with CLCN2-Related Leukoencephalopathy due to CLCN2 Mutations. Eur Neurol. 2017;78(3-4):125-127. doi: 10.1159/000478089. Epub 2017 Jul 26. No abstract available.
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