Leukoencephalopathies associated with macrocephaly

Seminars in Neurology

Volumn 32, Issue 1, 2012, Pages 34-41

  Renaud, Deborah L ^a  

^a MAYO CLINIC   (United States)

Author keywords

leukodystrophy; leukoencephalopathy; macrocephaly; megalencephaly

Indexed keywords

ANTICONVULSIVE AGENT; GLIAL FIBRILLARY ACIDIC PROTEIN; GLUTARIC ACID; GLUTARYL COENZYME A DEHYDROGENASE; HEAT SHOCK PROTEIN 27; INITIATION FACTOR 2; INITIATION FACTOR 2BETA; N ACETYLASPARTIC ACID; UNCLASSIFIED DRUG;

ACIDURIA; ALEXANDER DISEASE; ARTICLE; BENIGN FAMILIAL MACROCEPHALY; CANAVAN DISEASE; CHILDHOOD ATAXIA WITH CENTRAL HYPOMYELINATION; CHILDHOOD DISEASE; CHROMOSOME 22; DISEASE ASSOCIATION; GENE FREQUENCY; GENETIC DISORDER; HUMAN; HYDROCEPHALUS; IMAGE ANALYSIS; L2 HYDROXYGLUTARIC ACIDURIA; LEUKOENCEPHALOPATHY; MACROCEPHALY; MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYST; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; NEUROIMAGING; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSIOTHERAPY; PRIORITY JOURNAL; SEIZURE; SPASTICITY; VANISHING WHITE MATTER DISEASE; WHITE MATTER;

BRAIN DISEASES; CYSTS; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; LEUKOENCEPHALOPATHIES; MACROCEPHALY; MUTATION; NEUROIMAGING;

EID: 84858134783     PISSN: 02718235     EISSN: 10989021     Source Type: Journal    
DOI: 10.1055/s-0032-1306384     Document Type: Article

References (45)

1. Olney AH. Macrocephaly syndromes. Semin Pediatr Neurol: 2007; 14 3 128 135 (Pubitemid 350008074)
2. Williams CA, Dagli A, Battaglia A. Genetic disorders associated with macrocephaly. Am J Med Genet A: 2008; 146A 15 2023 2037
3. Sawaishi Y. Review of Alexander disease: beyond the classical concept of leukodystrophy. Brain Dev: 2009; 31 7 493 498
4. Messing A, Daniels CM, Hagemann TL. Strategies for treatment in Alexander disease. Neurotherapeutics: 2010; 7 4 507 515
5. Flint D, Brenner M. Alexander disease. In: Raymond G, Eichler F, Fatemi A, Naidu S., eds. Leukodystrophies. London Mac Keith Press: 2011; 106 129
6. Balbi P, Salvini S, Fundar C., et al. The clinical spectrum of late-onset Alexander disease: a systematic literature review. J Neurol: 2010; 257 12 1955 1962
7. van der Knaap MS, Naidu S, Breiter SN., et al. Alexander disease: diagnosis with MR imaging. AJNR Am J Neuroradiol: 2001; 22 3 541 552 (Pubitemid 32221425)
8. van der Voorn JP, Pouwels PJ, Salomons GS, Barkhof F, van der Knaap MS. Unraveling pathology in juvenile Alexander disease: serial quantitative MR imaging and spectroscopy of white matter. Neuroradiology: 2009; 51 10 669 675
9. Michals K, Matalon R. Canavan disease. In: Raymond G, Eichler F, Fatemi A, Naidu S., eds. Leukodystrophies. London Mac Keith Press: 2011; 156 169
10. Surendran S, Michals-Matalon K, Quast MJ., et al. Canavan disease: a monogenic trait with complex genomic interaction. Mol Genet Metab: 2003; 80 1-2 74 80 (Pubitemid 37272236)
11. Matalon R, Michals-Matalon K. Biochemistry and molecular biology of Canavan disease. Neurochem Res: 1999; 24 4 507 513 (Pubitemid 29187402)
12. Zano S, Malik R, Szucs S, Matalon R, Viola RE. Modification of aspartoacylase for potential use in enzyme replacement therapy for the treatment of Canavan disease. Mol Genet Metab: 2011; 102 2 176 180
13. van der Knaap MS, Barth PG, Gabrels FJ., et al. A new leukoencephalopathy with vanishing white matter. Neurology: 1997; 48 4 845 855
14. van der Knaap MS, Leegwater PA, Könst AA., et al. Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. Ann Neurol: 2002; 51 2 264 270 (Pubitemid 34111452)
15. Bugiani M, Boor I, Powers JM, Scheper GC, van der Knaap MS. Leukoencephalopathy with vanishing white matter: a review. J Neuropathol Exp Neurol: 2010; 69 10 987 996
16. van der Lei HD, van Berkel CG, van Wieringen WN., et al. Genotype-phenotype correlation in vanishing white matter disease. Neurology: 2010; 75 17 1555 1559
17. Maletkovic J, Schiffmann R, Gorospe JR., et al. Genetic and clinical heterogeneity in eIF2B-related disorder. J Child Neurol: 2008; 23 2 205 215
18. Scali O, Di Perri C, Federico A. The spectrum of mutations for the diagnosis of vanishing white matter disease. Neurol Sci: 2006; 27 4 271 277 (Pubitemid 44463790)
19. Pineda M, R-Palmero A, Baquero M., et al. Vanishing white matter disease associated with progressive macrocephaly. Neuropediatrics: 2008; 39 1 29 32 (Pubitemid 351828314)
20. 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 Pt 8 2161 2169
21. Goodman SI. Development of pathogenic concepts in glutaryl-CoA dehydrogenase deficiency: the challenge. J Inherit Metab Dis: 2004; 27 6 801 803 (Pubitemid 39433612)
22. Strauss KA, Puffenberger EG, Robinson DL, Morton DH. Type I glutaric aciduria, part 1: natural history of 77 patients. Am J Med Genet C Semin Med Genet: 2003; 121C 1 38 52 (Pubitemid 37064090)
23. Kölker S, Greenberg CR, Lindner M, Müller E, Naughten ER, Hoffmann GF. Emergency treatment in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis: 2004; 27 6 893 902 (Pubitemid 39433625)
24. Lindner M, Kölker S, Schulze A, Christensen E, Greenberg CR, Hoffmann GF. Neonatal screening for glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis: 2004; 27 6 851 859 (Pubitemid 39433620)
25. Heringer J, Boy SP, Ensenauer R., et al. Use of guidelines improves the neurological outcome in glutaric aciduria type I. Ann Neurol: 2010; 68 5 743 752
26. Christensen E, Ribes A, Merinero B, Zschocke J. Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis: 2004; 27 6 861 868 (Pubitemid 39433621)
27. Neumaier-Probst E, Harting I, Seitz A, Ding C, Kolker S. Neuroradiological findings in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency). J Inherit Metab Dis: 2004; 27 6 869 876 (Pubitemid 39433622)
28. Twomey EL, Naughten ER, Donoghue VB, Ryan S. Neuroimaging findings in glutaric aciduria type 1. Pediatr Radiol: 2003; 33 12 823 830 (Pubitemid 38008329)
29. Bähr O, Mader I, Zschocke J, Dichgans J, Schulz JB. Adult onset glutaric aciduria type I presenting with a leukoencephalopathy. Neurology: 2002; 59 11 1802 1804 (Pubitemid 35424472)
30. Kölker S, Christensen E, Leonard JV., et al. Diagnosis and management of glutaric aciduria type Irevised recommendations. J Inherit Metab Dis: 2011; 34 3 677 694
31. Mühlhausen C, Hoffmann GF, Strauss KA., et al. Maintenance treatment of glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis: 2004; 27 6 885 892 (Pubitemid 39433624)
32. Rzem R, Van Schaftingen E, Veiga-da-Cunha M. The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase. Biochimie: 2006; 88 1 113 116 (Pubitemid 41668626)
33. Rzem R, Vincent MF, Van Schaftingen E, Veiga-da-Cunha M. L-2-hydroxyglutaric aciduria, a defect of metabolite repair. J Inherit Metab Dis: 2007; 30 5 681 689 (Pubitemid 47559879)
34. Barbot C, Fineza I, Diogo L., et al. L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients. Brain Dev: 1997; 19 4 268 273 (Pubitemid 27236852)
35. Moroni I, D'Incerti L, Farina L, Rimoldi M, Uziel G. Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria. Neurol Sci: 2000; 21 2 103 108
36. D'Incerti L, Farina L, Moroni I, Uziel G, Savoiardo M. L-2-Hydroxyglutaric aciduria: MRI in seven cases. Neuroradiology: 1998; 40 11 727 733 (Pubitemid 28526107)
37. Yilmaz K. Riboflavin treatment in a case with l-2-hydroxyglutaric aciduria. Eur J Paediatr Neurol: 2009; 13 1 57 60
38. 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 3 324 334
39. 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 4 831 838 (Pubitemid 32289728)
40. 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 6 505 512 (Pubitemid 43870040)
41. Lpez-Hernndez T, Ridder MC, Montolio M., et al. Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. Am J Hum Genet: 2011; 88 4 422 432
42. Lpez-Hernndez T, Sirisi S, Capdevila-Nortes X., et al. Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts. Hum Mol Genet: 2011; 20 16 3266 3277
43. Gorospe JR, Singhal BS, Kainu T., et al. Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation. Neurology: 2004; 62 6 878 882 (Pubitemid 38435771)
44. Shukla P, Gupta N, Ghosh M., et al. Molecular genetic studies in Indian patients with megalencephalic leukoencephalopathy. Pediatr Neurol: 2011; 44 6 450 458
45. van der Knaap MS, Lai V, Köhler W., et al. Megalencephalic leukoencephalopathy with cysts without MLC1 defect. Ann Neurol: 2010; 67 6 834 837