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Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: Leukodystrophies arising from astrocyte dysfunction

2006; Wiley; Volume: 12; Issue: 2 Linguagem: Inglês

10.1002/mrdd.20101

ISSN

1098-2779

Autores

J. Rafael Gorospe, Jelena Maletkovic,

Tópico(s)

RNA modifications and cancer

Resumo

Mental Retardation and Developmental Disabilities Research ReviewsVolume 12, Issue 2 p. 113-122 Full Access Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: Leukodystrophies arising from astrocyte dysfunction J. Rafael Gorospe, Corresponding Author J. Rafael Gorospe [email protected] Center for Genetic Medicine, Children's National Medical Center, Washington, District of ColumbiaCenter for Genetic Medicine, Children's National Medical Center, 111 Michigan Ave NW 5th Floor, Washington, DC, 20010, USASearch for more papers by this authorJelena Maletkovic, Jelena Maletkovic Center for Genetic Medicine, Children's National Medical Center, Washington, District of ColumbiaSearch for more papers by this author J. Rafael Gorospe, Corresponding Author J. Rafael Gorospe [email protected] Center for Genetic Medicine, Children's National Medical Center, Washington, District of ColumbiaCenter for Genetic Medicine, Children's National Medical Center, 111 Michigan Ave NW 5th Floor, Washington, DC, 20010, USASearch for more papers by this authorJelena Maletkovic, Jelena Maletkovic Center for Genetic Medicine, Children's National Medical Center, Washington, District of ColumbiaSearch for more papers by this author First published: 28 June 2006 https://doi.org/10.1002/mrdd.20101Citations: 23AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES Alexander WS. 1949. Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant. Brain 72: 373–381. Aldskogius H. 2005. Repairing CNS myelin—Astrocytes have to do their jobs. Exp Neurol 192: 7–10. Aoki Y, Haginoya K, Munakata M, et al. 2001. A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease. Neurosci Lett 312: 71–74. Asahina N, Okamoto T, Sudo A, et al. 2006. An infantile-juvenile form of Alexander disease caused by a R79H mutation in GFAP. Brain Dev 28: 131–133. Baron W, de Jonge JC, de Vries H, Hoekstra D. 2000. Perturbation of myelination by activation of distinct signaling pathways: An in vitro study in a myelinating culture derived from fetal rat brain. J Neurosci Res 59: 74–85. Bassuk AG, Joshi A, Burton BK, et al. 2003. Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene. Neurology 61: 1014–1015. Ben-Zeev B, Levy-Nissenbaum E, Lahat H, et al. 2002. Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews. Hum Genet 111: 214–218. Biancheri R, Pisaturo C, Perrone MV, et al. 2000. Presence of delayed myelination and macrocephaly in the sister of a patient with vacuolating leukoencephalopathy with subcortical cysts. Neuropediatrics 31: 321–324. Blattner R, Von Moers A, Leegwater PA, et al. 2003. Clinical and genetic heterogeneity in megalencephalic leukoencephalopathy with subcortical cysts (MLC). Neuropediatrics 34: 215–218. Boor PK, de Groot K, Waisfisz Q, et al. 2005. MLC1: A novel protein in distal astroglial processes. J Neuropathol Exp Neurol 64: 412–419. Borrett D, Becker LE. 1985. Alexander's disease. A disease of astrocytes. Brain 108: 367–385. Brenner M, Johnson AB, Boespflug-Tanguy O, et al. 2001. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet 27: 117–120. Brockmann K, Meins M, Taubert A, et al. 2003a. A novel GFAP mutation and disseminated white matter lesions: Adult Alexander disease?. Eur Neurol 50: 100–105. Brockmann K, Dechent P, Meins M, et al. 2003b. Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease. J Neurol 250: 300–306. Bugiani M, Moroni I, Bizzi A, et al. 2003. Consciousness disturbances in megalencephalic leukoencephalopathy with subcortical cysts. Neuropediatrics 34: 211–214. Bush TG, Puvanachandra N, Horner CH. 1999. Leukocyte infiltration, neuronal degeneration, and neurite outgrowth after ablation of scar-forming, reactive astrocytes in adult transgenic mice. Neuron 23: 297–308. Cerghet M, Skoff RP, Bessert D, et al. 2006. Proliferation and death of oligodendrocytes and myelin proteins are differentially regulated in male and female rodents. J Neurosci 26: 1439–1447. Chowen JA, Busiguina S, Garcia-Segura LM. 1995. Sexual dimorphism and sex steroid modulation of glial fibrillary acidic protein messenger RNA and immunoreactivity levels in the rat hypothalamus. Neuroscience 69: 519–532. Devaney JM, Donarum EA, Brown KM, et al. 2002. No missense mutation of WKL1 in a subgroup of probands with schizophrenia. Mol Psychiatry 7: 419–423. Dinopoulos A, Gorospe JR, Egelhoff J, et al. Discrepancy between neuroimaging findings and clinical phenotype in Alexander Disease. Am J Neuroradiol (in press). Dong-Dong L. 2005. Up-regulation expression of MLC1 in human liver cancer tissue and enhanced SMMC7721 cell tumorigenesis in vivo and vitro. Hepatogastroenterology 52: 1186–1190. Faulkner JR, Herrmann JE, Woo MJ. 2004. Reactive astrocytes protect tissue and preserve function after spinal cord injury. J Neurosci 24: 2143–2155. Friede RL. 1964. Alexander's disease. Arch Neurol 11: 414–422. Fuchs E. 1996. The cytoskeleton and disease: Genetic disorders of intermediate filaments. Annu Rev Genet 30: 197–231. Fuchs E, Cleveland DW. 1998. A structural scaffolding of intermediate filaments in health and disease. Science 279: 514–519. Gard AL, Burrell MR, Pfeiffer SE. 1995. Astroglial control of oligodendrocyte survival mediated by PDGF and leukemia inhibitory factor-like protein. Development 121: 2187–2197. Gerics B, Halasy K, Szalay F, et al. 2001. Sexual dimorphism of glial fibrillary acidic protein (GFAP) immunoreactivity in the rat interpeduncular nucleus. Acta Biol Hung 52: 29–34. Gorospe JR, Naidu S, Johnson AB, et al. 2002. Molecular findings in symptomatic and pre-symptomatic Alexander disease patients. Neurology 58: 1494–1500. Gorospe JR, Singhal BS, Kainu T, et al. 2004. Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation. Neurology 62: 878–882. Goutieres F, Boulloche J, Bourgeois M, et al. 1996. Leukoencephalopathy, megalencephaly, and mild clinical course. A recently individualized familial leukodystrophy. Report on five new cases. J Child Neurol 11: 439–444. Gulati S, Kabra M, Gera S, et al. 2000. Infantile-onset leukoencephalopathy with discrepant mild clinical course. Indian J Pediatr 67: 769–773. Guthrie SO, Burton EM, Knowles P, et al. 2003. Alexander's disease in a neurologically normal child: A case report. Pediatr Radiol 33: 47–49. Hagemann TL, Gaeta SA, Smith MA, et al. 2005. Gene expression analysis in mice with elevated glial fibrillary acidic protein and Rosenthal fibers reveals a stress response followed by glial activation and neuronal dysfunction. Hum Mol Genet 14: 2443–2458. Halloverden J. 1961. The development of the myelin sheath and Rosenthal's fibers. Dtsch Nervenheilkd 181: 547–580. Hsiao VC, Tian R, Long H, et al. 2005. Alexander-disease mutation of GFAP causes filament disorganization and decreased solubility of GFAP. J Cell Sci 118: 2057–2065. Iwaki T, Iwaki A, Tateishi J, et al. 1993. αB-crystallin and 27-kd heat shock protein are regulated by stress conditions in the CNS and accumulate in Rosenthal fibers. Am J Pathol 143: 487–495. Iwaki T, Kume-Iwaki A, Liem RK, et al. 1989. αB-crystallin is expressed in non-lenticular tissues and accumulates in Alexander's disease brain. Cell 57: 71–78. Johnson AB. 1996. Alexander disease. In: HW Moser, editor. Handbook of Clinical Neurology, Vol. 22: Neurodystrophies and Neurolipidoses. Amsterdam: Elsevier. pp 701–710. Johnson AB, Bettica A. 1989. On-grid immunogold labeling of glial intermediate filaments in epoxy-embedded tissue. Am J Anat 185: 335–341. Johnson AB, Brenner M. 2003. Alexander's disease: Clinical, pathologic, and genetic features. J Child Neurol 18: 625–632. Kaganovich M, Peretz A, Ritsner M, et al. 2004. Is the WKL1 gene associated with schizophrenia? Am J Med Genet B: Neuropsychiatr Genet 125: 31–37. Kawai M, Sakai N, Miyake S, et al. 2006. Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease. Brain Dev 28: 60–62. Kinoshita T, Imaizumi T, Miura Y, et al. 2003. A case of adult-onset Alexander disease with Arg416Trp human glial fibrillary acidic protein gene mutation. Neurosci Lett 350: 169–172. Klein EA, Anzil AP. 1994. Prominent white matter cavitation in an infant with Alexander's disease. Clin Neuropathol 13: 31–38. Koeda T, Takeshita K. 1998. Slowly progressive cystic leukoencephalopathy with megalencephaly in a Japanese boy. Brain Dev 20: 245–249. Koussa S, Roukoz H, Rizk T, Megarbane A. 2005. Megalencephalic leucoencephalopathy with subcortical cysts: A study of a Lebanese family and a review of the literature. Rev Neurol (Paris) 161: 183–191. Kyllerman M, Rosengren L, Wiklund LM, et al. 2005. Increased levels of GFAP in the cerebrospinal fluid in three subtypes of genetically confirmed Alexander disease. Neuropediatrics 36: 319–323. Leegwater PA, Boor PK, Yuan BQ, et al. 2002. Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts. Hum Genet 110: 279–283. Leegwater PA, Yuan BQ, van der Steen J, et al. 2001. Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. Am J Hum Genet 68: 831–838. Li R, Johnson AB, Salomons G, et al. 2005. Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. Ann Neurol 57: 310–326. Li R, Johnson AB, Salomons GS, et al. 2006. Propensity for paternal inheritance of de novo mutations in Alexander disease. Hum Genet 119: 137–144. Li R, Messing A, Goldman J, Brenner M. 2002. GFAP mutations in Alexander disease. Int J Dev Neurosci 20: 259–268. Ma HW, Lu JF, Jiang J, et al. 2005. Glial fibrillary acidic protein mutation in a Chinese girl with infantile Alexander disease. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22: 79–81 [in Chinese]. Martidis A, Yee RD, Azzarelli B, et al. 1999. Neuro-ophthalmic, radiographic, and pathologic manifestations of adult-onset Alexander disease. Arch Ophthalmol 117: 265–267. Meins M, Brockmann K, Yadav S, et al. 2002. Infantile Alexander Disease: A GFAP mutation in monozygotic twins and novel mutations in two other patients. Neuropediatrics 33: 194–198. Mejaski-Bosnjak V, Besenski N. 1997. Megalencephalic leukoencephalopathy: A further case of a new neurodegenerative white matter disease. Dev Med Child Neurol 39: 561–563. Messing A, Goldman JE, Johnson AB, et al. 2001. Alexander disease: New insights from genetics. J Neuropathol Exp Neurol 60: 563–573. Messing A, Head MW, Galles K, et al. 1998. Fatal encephalopathy with astrocyte inclusions in GFAP transgenic mice. Am J Pathol 152: 391–398. Meyer J, Huberth A, Ortega G, et al. 2001. A missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigree. Mol Psychiatry 6: 302–306. Mignot C, Boespflug-Tanguy O, Gelot A, et al. 2004. Alexander disease: Putative mechanisms of an astrocytic encephalopathy. Cell Mol Life Sci 61: 369–385. Montagna G, Teijido O, Eymard-Pierre E, et al. 2006. Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: Functional studies of novel variants in MLC1. Hum Mutat 27: 292. Morita H, Imamura A, Matsuo N, et al. 24 Feb 2006. MR imaging and 1H-MR spectroscopy of a case of van der Knaap disease. Brain Dev. [in press]. Mulligan SJ, MacVicar BA. 2004. Calcium transients in astrocyte endfeet cause cerebrovascular constrictions. Nature 431: 195–199. Nagao H, Kida K, Matsuda H, et al. 1981. Alexander disease: Clinical, electrodiagnostic and radiographic studies. Neuropediatrics 12: 22–32. Namekawa M, Takiyama Y, Aoki Y, et al. 2002. Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease. Ann Neurol 52: 779–785. Nedergaard M, Ransom B, Goldman SA. 2003. New roles for astrocytes: Redefining the functional architecture of the brain. Trends Neurosci 26: 523–530. Nobuhara Y, Nakahara K, Higuchi I, et al. 2004. Juvenile form of Alexander disease with GFAP mutation and mitochondrial abnormality. Neurology 63: 1302–1304. Nomura N, Miyajima N, Sazuka T, et al. 1994. Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001–KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. DNA Res 1: 27–35. Okamoto Y, Mitsuyama H, Jonosono M, et al. 2002. Autosomal dominant palatal myoclonus and spinal cord atrophy. J Neurol Sci 195: 71–76. Pascual-Castroviejo I, van der Knaap MS, Pronk JC, et al. 2005. Vacuolating megalencephalic leukoencephalopathy: 24 Year follow-up of two siblings. Neurologia 20: 33–40. Patrono C, Di Giacinto G, Eymard-Pierre E, et al. 2003. Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts. Neurology 61: 534–537. Peiffer J. 1968. Alexander's disease—Really a leucodystrophy? Pathol Eur 3: 305–312. Pridmore CL, Baraitser M, Harding B, et al. 1993. Alexander's disease: Clues to diagnosis. J Child Neurol 8: 134–144. Probst EN, Hagel C, Weisz V, et al. 2003. Atypical focal MRI lesions in a case of juvenile Alexander's disease. Ann Neurol 53: 118–120. Ransom B, Behar T, Nedergaard M. 2003. New roles for astrocytes (stars at last). Trends Neurosci 26: 520–522. Rasia-Filho AA, Xavier LL, dos Santos P, et al. 2002. Glial fibrillary acidic protein immunodetection and immunoreactivity in the anterior and posterior medial amygdala of male and female rats. Brain Res Bull 58: 67–75. Riel-Romero RM, Smith CD, Pettigrew AL. 2005. Megalencephalic leukoencephalopathy with subcortical cysts in two siblings owing to two novel mutations: Case reports and review of the literature. J Child Neurol 20: 230–234. Rodriguez D, Gauthier F, Bertini E, et al. 2001. Infantile Alexander disease: Spectrum of GFAP mutations and genotype–phenotype correlation. Am J Hum Genet 69: 1134–1140. Rubie C, Lichtner P, Gartner J, et al. 2003. Sequence diversity of KIAA0027/MLC1: Are megalencephalic leukoencephalopathy and schizophrenia allelic disorders? Hum Mutat 21: 45–52. Russo LS Jr, Aron A, Anderson PJ. 1976. Alexander's disease: A report and reappraisal. Neurology 26: 607–614. Saijo H, Nakayama H, Ezoe T, et al. 2003. A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): Molecular genetic study. Brain Dev 25: 362–366. Salvi F, Aoki Y, Della Nave R, et al. 2005. Adult Alexander's disease without leukoencephalopathy. Ann Neurol 58: 813–814. Sawaishi Y, Yano T, Takaku I, Takada G. 2002. Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene. Neurology 58: 1541–1543. Schmitt A, Gofferje V, Weber M, et al. 2003. The brain-specific protein MLC1 implicated in megalencephalic leukoencephalopathy with subcortical cysts is expressed in glial cells in the murine brain. Glia 44: 283–295. Schochet SS Jr, Lampert PW, Earle KM. 1968. Alexander's disease. A case report with electron microscopic observations. Neurology 18: 543–549. Schwankhaus JD, Parisi JE, Gulledge WR, et al. 1995. Hereditary adult-onset Alexander's disease with palatal myoclonus, spastic paraparesis, and cerebellar ataxia. Neurology 45: 2266–2271. Shiihara T, Kato M, Honma T, et al. 2002. Fluctuation of computed tomographic findings in white matter in Alexander's disease. J Child Neurol 17: 227–230. Shiihara T, Sawaishi Y, Adachi M, et al. 2004. Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAP. J Neurol Sci 225: 125–127. Shiroma N, Kanazawa N, Izumi M, et al. 2001. Diagnosis of Alexander disease in a Japanese patient by molecular genetic analysis. J Hum Genet 46: 579–582. Shiroma N, Kanazawa N, Kato Z, et al. 2003. Molecular genetic study in Japanese patients with Alexander disease: A novel mutation, R79L. Brain Dev 25: 116–121. Singhal BS, Gorospe JR, Naidu S. 2003. Megalencephalic leukoencephalopathy with subcortical cysts. J Child Neurol 18: 646–652. Singhal BS, Gursahani RD, Biniwale AA, et al. 1991. Megalencephalic leukodystrophy in India (abstract). 8th Asian and Oceanian Congress of Neurology, Tokyo, Japan. Singhal BS, Gursahani RD, Udani VP, et al. 1996. Megalencephalic leukodystrophy in an Asian Indian ethnic group. Pediatr Neurol 14: 291–296. Sofroniew MV. 2005. Reactive astrocytes in neural repair and protection. Neuroscientist 11: 400–407. Stumpf E, Masson H, Duquette A, et al. 2003. Adult Alexander disease with autosomal dominant transmission: A distinct entity caused by mutation in the glial fibrillary acid protein gene. Arch Neurol 60: 1307–1312. Suarez I, Bodega G, Rubio M, et al. 1991. Sexual dimorphism in the distribution of glial fibrillary acidic protein in the supraoptic nucleus of the hamster. J Anat 178: 79–82. Suzuki Y, Kanazawa N, Takenaka J, et al. 2004. A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P. Brain Dev 26: 206–208. Takanashi J, Sugita K, Kohno Y. 1999. Vacuolating leukoencephalopathy with subcortical cysts with late onset athetotic movements. J Neurol Sci 165: 90–93. Takanashi J, Sugita K, Tanabe Y, et al. 1998. Adolescent case of Alexander's disease: MR imaging and MR spectroscopy. Pediatr Neurol 18: 67–70. Teijido O, Martinez A, Pusch M, et al. 2004. Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts. Hum Mol Genet 13: 2581–2594. Thelle T, Balslev T, Christensen T. 1999. Van der Knaap's vacuolating leukoencephalopathy: Two additional cases. Eur J Paediatr Neurol 3: 83–86. Thyagarajan D, Chataway T, Li R, et al. 2004. Dominantly-inherited adult-onset leukodystrophy with palatal tremor caused by a mutation in the glial fibrillary acidic protein gene. Mov Disord 19: 1244–1248. Tomokane N, Iwaki T, Tateishi J, et al. 1991. Rosenthal fibers share epitopes with αB-crystallin, glial fibrillary acidic protein, and ubiquitin, but not with vimentin. Immunoelectron microscopy with colloidal gold. Am J Pathol 138: 875–885. Topcu M, Gartioux C, Ribierre F, et al. 2000. Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel. Am J Hum Genet 66: 733–739. Topcu M, Saatci I, Topcuoglu MA, et al. 1998. Megalencephaly and leukodystrophy with mild clinical course: A report on 12 new cases. Brain Dev 20: 142–153. Tsujino S, Kanazawa N, Yoneyama H, et al. 2003. A common mutation and a novel mutation in Japanese patients with van der Knaap disease. J Hum Genet 48: 605–608. van der Knaap MS, Barth PG, Stroink H, et al. 1995. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Ann Neurol 37: 324–334. van der Knaap MS, Barth PG, Vrensen GF, et al. 1996. Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course. Acta Neuropathol (Berl) 92: 206–212. van der Knaap MS, Naidu S, Breiter SN, et al. 2001. Alexander disease: Diagnosis with MR imaging. AJNR Am J Neuroradiol 22: 541–552. van der Knaap MS, Ramesh V, Schiffmann R, et al. 2006. Alexander disease: Ventricular garlands and abnormalities of the medulla and spinal cord. Neurology 66: 494–498. van der Knaap MS, Salomons GS, Li R, et al. 2005. Unusual variants of Alexander's disease. Ann Neurol 57: 327–338. Verma R, Mukerji M, Grover D, et al. 2005. MLC1 gene is associated with schizophrenia and bipolar disorder in Southern India. Biol Psychiatry 58: 16–22. Viehover A, Miller RH, Park SK. 2001. Neuregulin: An oligodendrocyte growth factor absent in active multiple sclerosis lesions. Dev Neurosci 23: 377–386. Wakabayashi K, Lai M, Masuko K, et al. 2005. A case of long-term survival of a patient with infantile Alexander disease diagnosed by DNA analysis. No To Hattatsu 37: 55–59 [in Japanese]. Walls TJ, Jones RA, Cartlidge N, et al. 1984. Alexander's disease with Rosenthal fibre formation in an adult. J Neurol Neurosurg Psychiatry 47: 399–403. Yakinci C, Soylu H, Kutlu NO, Sener RN. 1999. Leukoencephalopathy with a mild clinical course: A case report. Comput Med Imaging Graph 23: 169–172. Yalcinkaya C, Yuksel A, Comu S, et al. 2003. Epilepsy in vacuolating megalencephalic leukoencephalopathy with subcortical cysts. Seizure 12: 388–396. Citing Literature Volume12, Issue2Special Issue: White Matter Disorders2006Pages 113-122 ReferencesRelatedInformation

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