Leukodystrophies with astrocytic dysfunction

Handbook of Clinical Neurology

Volumn 113, Issue , 2013, Pages 1619-1628

  Rodriguez, Diana ^a  

^a SORBONNE UNIVERSITÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84876872406     PISSN: 00729752     EISSN: None     Source Type: Book Series    
DOI: 10.1016/B978-0-444-59565-2.00030-7     Document Type: Chapter

References (69)

1. Alexander W.S. Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant. Brain 1949, 72:373-381.
2. Ambrosini E., Serafini B., Lanciotti A., et al. Biochemical characterization of MLC1 protein in astrocytes and its association with the dystrophin-glycoprotein complex. Mol Cell Neurosci 2008, 37:480-493.
3. Arun P., Madhavarao C.N., Moffett J.R., et al. Metabolic acetate therapy improves phenotype in the tremor rat model of Canavan disease. J Inherit Metab Dis 2010, 33:195-210.
4. Assadi M., Janson C., Wang D.J., et al. Lithium citrate reduces excessive intra-cerebral N-acetyl aspartate in Canavan disease. Eur J Paediatr Neurol 2009, 14:354-359.
5. Bassuk A.G., Joshi A., Burton B.K., et al. Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene. Neurology 2003, 61:1014-1015.
6. Baumann N., Pham-Dinh D. Biology of oligodendrocyte and myelin in the mammalian central nervous system. Physiol Rev 2001, 81:871-927.
7. Bennett M.J., Gibson K.M., Sherwood W.G., et al. Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): comparison of enzymatic and metabolite analysis. J Inherit Metab Dis 1993, 16:831-836.
8. Biancheri R., Rossi A., Di Rocco M., et al. Leukoencephalopathy with vanishing white matter: an adult onset case. Neurology 2003, 61:1818-1819.
9. Black D.N., Booth F., Watters G.V., et al. Leukoencephalopathy among native Indian infants in northern Quebec and Manitoba. Ann Neurol 1988, 24:490-496.
10. Blattner R., Von Moers A., Leegwater P.A., et al. Clinical and genetic heterogeneity in megalencephalic leukoencephalopathy with subcortical cysts (MLC). Neuropediatrics 2003, 34:215-218.
11. Boor I., Nagtegaal M., Kamphorst W., et al. MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet. Acta Neuropathol 2007, 114:403-410.
12. Brenner M., Johnson A.B., Boespflug-Tanguy O., et al. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet 2001, 27:117-120.
13. Brismar J., Brismar G., Gascon G., et al. Canavan disease: CT and MR imaging of the brain. AJNR Am J Neuroradiol 1990, 11:805-810.
14. Bugiani M., Moroni I., Bizzi A., et al. Consciousness disturbances in megalencephalic leukoencephalopathy with subcortical cysts. Neuropediatrics 2003, 34:211-214.
15. Canavan M. Schilder's encephalitis periaxialis diffusa: report of a child aged sixteen and one half months. Arch Neurol Psychiatr 1931, 25:299-308.
16. De Keyser J., Mostert J.P., Koch M.W. Dysfunctional astrocytes as key players in the pathogenesis of central nervous system disorders. J Neurol Sci 2008, 267:3-16.
17. Dietrich J., Lacagnina M., Gass D., et al. EIF2B5 mutations compromise GFAP+astrocyte generation in vanishing WM leukodystrophy. Nat Med 2005, 11:277-283.
18. Elpeleg O.N., Shaag A. The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients. J Inherit Metab Dis 1999, 22:531-534.
19. Feigenbaum A., Moore R., Clarke J., et al. Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay. Am J Med Genet A 2004, 124A:142-147.
20. Fogli A., Wong K., Eymard-Pierre E., et al. Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. Ann Neurol 2002, 52:506-510.
21. Fogli A., Rodriguez D., Eymard-Pierre E., et al. Ovarian failure related to eukaryotic initiation factor 2B mutations. Am J Hum Genet 2003, 72:1544-1550.
22. Fogli A., Schiffmann R., Bertini E., et al. The effect of genotype on the natural history of eIF2B-related leukodystrophies. Neurology 2004, 62:1509-1517.
23. Gorospe J.R., Naidu S., Johnson A.B., et al. Molecular findings in symptomatic and pre-symptomatic Alexander disease patients. Neurology 2002, 58:1494-1500.
24. Gorospe J.R., Singhal B.S., Kainu T., et al. Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation. Neurology 2004, 62:878-882.
25. Hanefeld F., Holzbach U., Kruse B., et al. Diffuse WM disease in three children: an encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy. Neuropediatrics 1993, 24:244-248.
26. Horzinski L., Huyghe A., Cardoso M.C., et al. Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders. PLoS One 2009, 4:e8318.
27. Janson C.G., Assadi M., Francis J., et al. Lithium citrate for Canavan disease. Pediatr Neurol 2005, 33:235-243.
28. Kaul R., Gao G.P., Aloya M., et al. Canavan disease: mutations among Jewish and non-Jewish patients. Am J Hum Genet 1994, 55:34-41.
29. Labauge P., Fogli A., Castelnovo G., et al. Dominant form of vanishing white matter-like leukoencephalopathy. Ann Neurol 2005, 58:634-639.
30. Labauge P., Horzinski L., Ayrignac X., et al. Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases. Brain 2009, 132:2161-2169.
31. Leegwater P.A., Yuan B.Q., 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.
32. Leegwater P.A., Vermeulen G., Könst A.A., et al. Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. Nat Genet 2001, 29:383-388.
33. Leone P., Janson C.G., Bilaniuk L., et al. Aspartoacylase gene transfer to the mammalian central nervous system with therapeutic implications for Canavan disease. Ann Neurol 2000, 48:27-38.
34. Li R., Johnson A.B., Salomons G., Goldman J.E., et al. Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. Ann Neurol 2005, 57:310-326.
35. McPhee S.W., Janson C.G., Li C., et al. Immune responses to AAV in a phase I study for Canavan disease. J Gene Med 2006, 8:577-588.
36. Matalon R., Michals K., Sebesta D., et al. Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. Am J Med Genet 1988, 29:463-471.
37. Messing A., Head M.W., Galles K., et al. Fatal encephalopathy with astrocyte inclusions in GFAP transgenic mice. Am J Pathol 1998, 152:391-398.
38. Messing A., Daniels C.M., Hagemann T.L. Strategies for treatment in Alexander disease. Neurotherapeutics 2010, 7:507-515.
39. Mignot C., Boespflug-Tanguy O., Gelot A., et al. Alexander disease: putative mechanisms of an astrocytic encephalopathy. Cell Mol Life Sci 2004, 61:369-385.
40. Mignot C., Desguerre I., Burglen L., et al. Tumor-like enlargement of the optic chiasm in an infant with Alexander disease. Brain Dev 2009, 31:244-247.
41. Namekawa M., Takiyama Y., Aoki Y., et al. Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease. Ann Neurol 2002, 52:779-785.
42. Passemard S., Gelot A., Fogli A., et al. Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families. Neurology 2007, 69:400-402.
43. Patrono C., Di Giacinto G., Eymard-Pierre E., et al. Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts. Neurology 2003, 61:534-537.
44. Pridmore C.L., Baraitser M., Harding B., et al. Alexander's disease: clues to diagnosis. J Child Neurol 1993, 8:134-144.
45. Probst E.N., Hagel C., Weisz V., et al. Atypical focal MRI lesions in a case of juvenile Alexander's disease. Ann Neurol 2003, 53:118-120.
46. Quinlan R.A., Brenner M., Goldman J.E., et al. GFAP and its role in Alexander disease. Exp Cell Res 2007, 313:2077-2087.
47. Rodriguez D., Gelot A., della Gaspera B., et al. Increased density of oligodendrocytes in childhood ataxia with diffuse central hypomyelination (CACH) syndrome: neuropathological and biochemical study of two cases. Acta Neuropathol (Berl) 1999, 97:469-480.
48. Rodriguez D., Gauthier F., Bertini E., et al. Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. Am J Hum Genet 2001, 69:1134-1140.
49. Russo L.S., Aron A., Anderson P.J. Alexander's disease: a report and reappraisal. Neurology 1976, 26:607-614.
50. Schiffmann R., Moller J.R., Trapp B.D., et al. Childhood ataxia with diffuse central nervous system hypomyelination. Ann Neurol 1994, 35:331-340.
51. Schiffmann R., Tedeschi G., Kinkel R.P., et al. Leukodystrophy in patients with ovarian dysgenesis. Ann Neurol 1997, 41:654-661.
52. Schmitt A., Gofferje V., Weber M., et al. The brain-specific protein MLC1 implicated in megalencephalic leukoencephalopathy with subcortical cysts is expressed in glial cells in the murine brain. Glia 2003, 44:283-295.
53. Singhal B.S., Gursahani R.D., Udani V.P., et al. Megalencephalic leukodystrophy in an Asian Indian ethnic group. Pediatr Neurol 1996, 14:291-296.
54. Springer S., Erlewein R., Naegele T., et al. Alexander disease - classification revisited and isolation of a neonatal form. Neuropediatrics 2000, 31:86-92.
55. Stumpf E., Masson H., Duquette A., et al. Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene. Arch Neurol 2003, 60:1307-1312.
56. Surendran S., Bamforth F.J., Chan A., et al. Mild elevation of N-acetylaspartic acid and macrocephaly: diagnostic problem. J Child Neurol 2003, 18:809-812.
57. Topçu M., Gartioux C., Ribierre F., et al. Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel. Am J Hum Genet 2000, 66:733-739.
58. Traeger E.C., Rapin I. The clinical course of Canavan disease. Pediatr Neurol 1998, 18:207-212.
59. van Bogaert L., Bertrand I. Sur une idiotie familiale avec dégénérescence spongieuse du névraxe. Acta Neurol Psychiatr Belg 1949, 49:572-585.
60. van der Knaap M.S., Barth P.G., Stroink H., et al. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Ann Neurol 1995, 37:324-334.
61. van der Knaap M.S., Barth P.G., Gabreels F.J., et al. A new leukoencephalopathy with vanishing WM. Neurology 1997, 48:845-855.
62. van der Knaap M.S., Naidu S., Breiter S.N., et al. Alexander disease: diagnosis with MR imaging. AJNR Am J Neuroradiol 2001, 541-552.
63. van Der Knaap M.S., Leegwater P.A., Konst A.A., et al. Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing WM. Ann Neurol 2002, 51:264-270.
64. van der Knaap M.S., van Berkel C.G., Herms J., et al. eIF2B-related disorders: antenatal onset and involvement of multiple organs. Am J Hum Genet 2003, 73:1199-1207.
65. van der Knaap M.S., Salomons G.S., Li R., et al. Unusual variants of Alexander's disease. Ann Neurol 2005, 57:327-338.
66. van der Knaap M.S., Pronk J.C., Scheper G.C. Vanishing white matter disease. Lancet Neurol 2006, 5:413-423.
67. Vanderver A., Hathout Y., Maletkovic J., et al. Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorder. Neurology 2008, 70:2226-2232.
68. Wong K., Armstrong R.C., Gyure K.A., et al. Foamy cells with oligodendroglial phenotype in childhood ataxia with diffuse central nervous system hypomyelination syndrome. Acta Neuropathol 2000, 100:635-646.
69. Yalcinkaya C., Benbir G., Salomons G.S., et al. Atypical MRI findings in Canavan disease: a patient with a mild course. Neuropediatrics 2005, 36:336-339.