Two cases with megalencephalic leukoencephalopathy with subcortical cysts and MLC1 mutations in the Turkish population

Turkish Journal of Pediatrics

Volumn 52, Issue 2, 2010, Pages 179-183

  Yiş, Uluç ^a   Scheper, Gert C ^b   Uran, Nedret ^a   Ünalp, Aycan ^a   Çakmakçi, Handan ^a   Hiz Kurul, Semra ^a   Dirik, Eray ^a   van der Knaap, Marjo S ^b  

^a DOKUZ EYLUL UNIVERSITY   (Turkey)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Megalencephalic leukoencephalopathy; MLC1 gene; Subcortical cysts; Turkish population

Indexed keywords

CARBAMAZEPINE; MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYST 1 PROTEIN; MEMBRANE PROTEIN; PLASMA PROTEIN; UNCLASSIFIED DRUG; MLC1 PROTEIN, HUMAN;

ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DISEASE COURSE; FEMALE; GAIT DISORDER; GENE IDENTIFICATION; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MACROCEPHALY; MALE; MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYST; MENTAL DEFICIENCY; MOTOR DYSFUNCTION; NEUROLOGIC DISEASE; SCHOOL CHILD; SEIZURE; SPASTICITY; TURKEY (REPUBLIC); BRAIN CYST; BRAIN DISEASE; CONSANGUINITY; GENETICS; LEUKOENCEPHALOPATHY; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING;

BRAIN DISEASES; CENTRAL NERVOUS SYSTEM CYSTS; CHILD; CONSANGUINITY; FEMALE; HUMANS; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MUTATION; TURKEY;

EID: 77955478945     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (19)

1. Singhal BS, Gorospe JR, Naidu S. Megalencephalic leukoencephalopathy with subcortical cysts. J Child Neurol 2003; 18: 646-665.
2. van der Knaap MS, Valk J, Barth PG. Leukoencephalopathy with swelling in children and adolescents: MRI patterns and differential diagnosis. Neuroradiology 1995; 37: 679-686.
3. th Asian and Oceanian Congress of Neurology, Tokyo, Japan, 1991, 72.
4. van der Knaap MS, Barth PG, Stroink H, et al. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Ann Neurol 1995; 37: 324-334.
5. Topçu M, Saatçi I, Topçuoǧlu MA, et al. Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases. Brain Dev 1998; 20: 142-153.
6. tel. Am J Hum Genet 2000; 66: 733-739.
7. Leegwater PA, Yuan BQ, van der Steen J, et al. Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. Am J Hum Genet 2001; 68: 831-838.
8. Teijido O, Martinez A, Pusch M, et al. Localization and functional analysis of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts. Hum Mol Genet 2004; 13: 2581-2594.
9. Boor I, Nagtegaal M, Kamphorst W, et al. MLC1 is associated with dystrophin-glycoprotein complex at astrocytic endfeet. Acta Neuropathol 2007; 114: 403-410.
10. Ambrosini E, Serafini B, Lanciotti A, et al. Biochemical characterization of MLC1 protein in astrocytes and its association with dystrophin-glycoprotein complex. Mol Cell Neurosci 2008; 37: 480-493.
11. Boor PK, de Groot K, Waisfisz Q, et al. MLC1: a novel protein in distal astroglial process. J Neuropathol Exp Neurol 2005; 64: 412-419.
12. Duarri A, Teijido O, Hernandez TL, et al. Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects. Hum Mol Genet 2008; 17: 3728-3739.
13. Ilja Boor PK, de Groot K, Mejaski-Bosnjak V, et al. Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1. Hum Mutat 2006; 27: 505-512.
14. Brockman K, Finsterbusch J, Terwey B, et al. Megalencephalic leukoencephalopathy with subcortical cysts in an adult: quantitative proton MR spectroscopy and diffusion tensor MRI. Neuroradiology 2003; 45: 137-142.
15. Rubie C, Lichtner P, Gartner J, et al. Sequence diversity of KIAAOO27/MLC1: are megalencephalic leukodystrophy and schizophrenia allelic disorders? Hum Mutat 2003; 21: 45-52.
16. Leegwater PA, Boor PK, Pronk JC, van der Knaap MS. Association of WKL1/MLC1 with catatonic schizophrenia. Mol Psychiatry 2002; 7: 1037.
17. Patrono C, Di Giacinto G, Eymard-Pierre E, et al. Genetic heterogeneity of megalencephalic leukoencephalopathy with subcortical cysts. Neurology 2003; 61: 534-537.
18. Saijo H, Nakayama H, Ezoe T, et al. A case of megalencephalic leukodystrophy with subcortical cysts (van der Knaap disease): molecular genetic study. Brain Dev 2003; 25: 362-366.
19. Tsujino S, Kanazawa N, Yoneyama H, et al. A common mutation and a novel mutation in Japanese patients with van der Knaap disease. J Hum Genet 2003; 48: 605-608.