The leukodystrophies

Seminars in Neurology

Volumn 34, Issue 3, 2014, Pages 312-320

  Gordon, Hannah B ^a   Letsou, Anthea ^a   Bonkowsky, Joshua L ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

adrenoleukodystrophy; bone marrow transplantation; enzymatic replacement therapy; hematopoietic stem cell transplantation; leukodystrophy; metachromatic leukodystrophy; myelin

Indexed keywords

MYELIN;

ACTION POTENTIAL; ARTICLE; BONE MARROW TRANSPLANTATION; COMPUTER ASSISTED TOMOGRAPHY; DISEASE COURSE; ENZYME REPLACEMENT; GENETIC SCREENING; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; INCIDENCE; LEUKODYSTROPHY; MACROCEPHALY; MENTAL DETERIORATION; MICROCEPHALY; NERVOUS SYSTEM FUNCTION; NEUROIMAGING; NEXT GENERATION SEQUENCING; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; OLIGODENDROCYTE PRECURSOR CELL; PATIENT CARE; PELIZAEUS MERZBACHER DISEASE; PREVALENCE; PRIORITY JOURNAL; SEIZURE; SENSITIVITY AND SPECIFICITY; SPASTICITY; ANIMAL; BRAIN DISEASES; GENETIC PREDISPOSITION; GENETICS; LYSOSOMAL STORAGE DISEASES; METABOLISM; MYELIN SHEATH; PELIZAEUS-MERZBACHER DISEASE;

ANIMALS; BRAIN DISEASES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LYSOSOMAL STORAGE DISEASES; MYELIN SHEATH; PELIZAEUS-MERZBACHER DISEASE; PREVALENCE;

EID: 84928534730     PISSN: 02718235     EISSN: 10989021     Source Type: Journal    
DOI: 10.1055/s-0034-1386769     Document Type: Article

References (79)

1. Bielschowsky M., Henneberg R. Ueber familiaere diffuse Sklerose (Leukodystrophia cerebri progressiva hereditaria). J Psychol Neurol: 1928; 36 131 181
2. Kaye E. M. Update on genetic disorders affecting white matter. Pediatr Neurol: 2001; 24 1 11 24
3. Maria B. L., Deidrick K. M., Moser H., Naidu S. Leukodystrophies: pathogenesis, diagnosis, strategies, therapies, and future research directions. J Child Neurol: 2003; 18 9 578 590
4. Kohlschütter A., Bley A., Brockmann K., et al. Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults. Brain Dev: 2010; 32 2 82 89
5. Bonkowsky J. L., Nelson C., Kingston J. L., Filloux F. M., Mundorff M. B., Srivastava R. The burden of inherited leukodystrophies in children. Neurology: 2010; 75 8 718 725
6. Schiffmann R., van der Knaap M. S. Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology: 2009; 72 8 750 759
7. Nave K. A. Myelination and support of axonal integrity by glia. Nature: 2010; 468 7321 244 252
8. Savas J. N., Toyama B. H., Xu T., Yates J. R. III, Hetzer M. W. Extremely long-lived nuclear pore proteins in the rat brain. Science: 2012; 335 6071 942
9. Kang S. H., Fukaya M., Yang J. K., Rothstein J. D., Bergles D. E. NG2+ CNS glial progenitors remain committed to the oligodendrocyte lineage in postnatal life and following neurodegeneration. Neuron: 2010; 68 4 668 681
10. Baumann N., Pham-Dinh D. Biology of oligodendrocyte and myelin in the mammalian central nervous system. Physiol Rev: 2001; 81 2 871 927
11. Jahn O., Tenzer S., Werner H. B. Myelin proteomics: molecular anatomy of an insulating sheath. Mol Neurobiol: 2009; 40 1 55 72
12. Aggarwal S., Yurlova L., Simons M. Central nervous system myelin: structure, synthesis and assembly. Trends Cell Biol: 2011; 21 10 585 593
13. White R., Krämer-Albers E. M. Axon-glia interaction and membrane traffic in myelin formation. Front Cell Neurosci: 2014; 7 284
14. de Castro F., Bribián A., Ortega M. C. Regulation of oligodendrocyte precursor migration during development, in adulthood and in pathology. Cell Mol Life Sci: 2013; 70 22 4355 4368
15. Wake H., Lee P. R., Fields R. D. Control of local protein synthesis and initial events in myelination by action potentials. Science: 2011; 333 6049 1647 1651
16. Bartzokis G., Beckson M., Lu P. H., Nuechterlein K. H., Edwards N., Mintz J. Age-related changes in frontal and temporal lobe volumes in men: a magnetic resonance imaging study. Arch Gen Psychiatry: 2001; 58 5 461 465
17. van der Knaap M. S., Pronk J. C., Scheper G. C. Vanishing white matter disease. Lancet Neurol: 2006; 5 5 413 423
18. Berger J., Forss-Petter S., Eichler F. S. Pathophysiology of X-linked adrenoleukodystrophy. Biochimie: 2014; 98 135 142
19. Vanderver A., Hussey H., Schmidt J. L., Pastor W., Hoffman H. J. Relative incidence of inherited white matter disorders in childhood to acquired pediatric demyelinating disorders. Semin Pediatr Neurol: 2012; 19 4 219 223
20. van der Knaap M. S., Breiter S. N., Naidu S., Hart A. A., Valk J. Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach. Radiology: 1999; 213 1 121 133
21. Pfeifenbring S., von Baumgarten L., Schüller U., et al. Biopsy findings of symptomatic cerebral X-linked adrenoleukodystrophy and histological differentiation from multiple sclerosis. Neuropathol Appl Neurobiol: 2014; 40 5 658 661
22. Baronica K. B., Mlinac K., Ozretić D., Vladić A., Bognar S. K. Arylsulfatase a gene polymorphisms in relapsing remitting multiple sclerosis: genotype-phenotype correlation and estimation of disease progression. Coll Antropol: 2011; 35 01 11 16
23. Eichler F., Van Haren K. Immune response in leukodystrophies. Pediatr Neurol: 2007; 37 4 235 244
24. Feenstra I., Vissers L. E., Orsel M., et al. Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map. Am J Med Genet A: 2007; 143A 16 1858 1867
25. Horn M. A., Retterstol L., Abdelnoor M., Skjeldal O. H., Tallaksen C. M. Adrenoleukodystrophy in Norway: high rate of de novo mutations and age-dependent penetrance. Pediatr Neurol: 2013; 48 3 212 219
26. Ługowska A., Ponińska J., Krajewski P., Broda G., Płoski R. Population carrier rates of pathogenic ARSA gene mutations: is metachromatic leukodystrophy underdiagnosed? PLoS ONE: 2011; 6 6 e20218
27. Heim P., Claussen M., Hoffmann B., et al. Leukodystrophy incidence in Germany. Am J Med Genet: 1997; 71 4 475 478
28. Sereni C., Paturneau-Jouas M., Aubourg P., Baumann N., Feingold J. Adrenoleukodystrophy in France: an epidemiological study. Neuroepidemiology: 1993; 12 4 229 233
29. Kirk E. P., Fletcher J. M., Sharp P., Carey B., Poulos A. X-linked adrenoleukodystrophy: the Australasian experience. Am J Med Genet: 1998; 76 5 420 423
30. Takemoto Y., Suzuki Y., Tamakoshi A., et al. Epidemiology of X-linked adrenoleukodystrophy in Japan. J Hum Genet: 2002; 47 11 590 593
31. Steenweg M. E., Vanderver A., Blaser S., et al. Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain: 2010; 133 10 2971 2982
32. La Piana R., Tonduti D., Gordish Dressman H., et al. Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies. J Child Neurol: 2014; 29 2 214 220
33. Yang E., Prabhu S. P. Imaging manifestations of the leukodystrophies, inherited disorders of white matter. Radiol Clin North Am: 2014; 52 2 279 319
34. van der Knaap M. S., Ramesh V., Schiffmann R., et al. Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord. Neurology: 2006; 66 4 494 498
35. Welker K. M., Patton A. Assessment of normal myelination with magnetic resonance imaging. Semin Neurol: 2012; 32 1 15 28
36. van der Knaap M. S., Valk J., Bakker C. J., et al. Myelination as an expression of the functional maturity of the brain. Dev Med Child Neurol: 1991; 33 10 849 857
37. Pujol J., López-Sala A., Sebastián-Gallés N., et al. Delayed myelination in children with developmental delay detected by volumetric MRI. Neuroimage: 2004; 22 2 897 903
38. Yang Y., Muzny D. M., Reid J. G., et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med: 2013; 369 16 1502 1511
39. Raymond G. V., Jones R. O., Moser A. B. Newborn screening for adrenoleukodystrophy: implications for therapy. Mol Diagn Ther: 2007; 11 6 381 384
40. Orsini J. J., Martin M. M., Showers A. L., et al. Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: application to a small-scale population study for five lysosomal storage disorders. Clin Chim Acta: 2012; 413 15-16 1270 1273
41. Duffner P. K., Caggana M., Orsini J. J., et al. Newborn screening for Krabbe disease: the New York State model. Pediatr Neurol: 2009; 40 4 245 252, discussion 253-255
42. Orsini J. J., Morrissey M. A., Slavin L. N., et al. Implementation of newborn screening for Krabbe disease: population study and cutoff determination. Clin Biochem: 2009; 42 9 877 884
43. Waggoner D. J., Tan C. A. Expanding newborn screening for lysosomal disorders: opportunities and challenges. Dev Disabil Res Rev: 2011; 17 1 9 14
44. Lantos J. D. Dangerous and expensive screening and treatment for rare childhood diseases: the case of Krabbe disease. Dev Disabil Res Rev: 2011; 17 1 15 18
45. Nakamura K., Hattori K., Endo F. Newborn screening for lysosomal storage disorders. Am J Med Genet C Semin Med Genet: 2011; 157C 1 63 71
46. Boelens J. J. Trends in haematopoietic cell transplantation for inborn errors of metabolism. J Inherit Metab Dis: 2006; 29 2-3 413 420
47. Sevin C., Aubourg P., Cartier N. Enzyme, cell and gene-based therapies for metachromatic leukodystrophy. J Inherit Metab Dis: 2007; 30 2 175 183
48. Orchard P. J., Tolar J. Transplant outcomes in leukodystrophies. Semin Hematol: 2010; 47 1 70 78
49. Escolar M. L., Poe M. D., Provenzale J. M., et al. Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease. N Engl J Med: 2005; 352 20 2069 2081
50. Martin P. L., Carter S. L., Kernan N. A., et al. Results of the cord blood transplantation study (COBLT): outcomes of unrelated donor umbilical cord blood transplantation in pediatric patients with lysosomal and peroxisomal storage diseases. Biol Blood Marrow Transplant: 2006; 12 2 184 194
51. Valayannopoulos V. Enzyme replacement therapy and substrate reduction therapy in lysosomal storage disorders with neurological expression. Handb Clin Neurol: 2013; 113 1851 1857
52. Stroobants S., Gerlach D., Matthes F., et al. Intracerebroventricular enzyme infusion corrects central nervous system pathology and dysfunction in a mouse model of metachromatic leukodystrophy. Hum Mol Genet: 2011; 20 14 2760 2769
53. Moser H. W., Raymond G. V., Lu S. E., et al. Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil. Arch Neurol: 2005; 62 7 1073 1080
54. Aubourg P., Adamsbaum C., Lavallard-Rousseau M. C., et al. A two-year trial of oleic and erucic acids (Lorenzo's oil) as treatment for adrenomyeloneuropathy. N Engl J Med: 1993; 329 11 745 752
55. Moser H. W., Moser A. B., Hollandsworth K., Brereton N. H., Raymond G. V. Lorenzo's oil therapy for X-linked adrenoleukodystrophy: rationale and current assessment of efficacy. J Mol Neurosci: 2007; 33 1 105 113
56. Berger J., Pujol A., Aubourg P., Forss-Petter S. Current and future pharmacological treatment strategies in X-linked adrenoleukodystrophy. Brain Pathol: 2010; 20 4 845 856
57. Van Haren K., Bonkowsky J. L., Bernard G., et al, on behalf of the GLIA Consortium. Consensus statement on preventive and symptomatic care of leukodystrophy patients. Mol Genet Metab: 2014;; In press
58. Cohen-Cymberknoh M., Shoseyov D., Kerem E. Managing cystic fibrosis: strategies that increase life expectancy and improve quality of life. Am J Respir Crit Care Med: 2011; 183 11 1463 1471
59. Brimley C. J., Lopez J., van Haren K., et al. National variation in costs and mortality for leukodystrophy patients in US children's hospitals. Pediatr Neurol: 2013; 49 3 156 162, e1
60. Barrell C. Juvenile metachromatic leukodystrophy: understanding the disease and implications for nursing care. J Pediatr Oncol Nurs: 2007; 24 2 64 69
61. Holmes L., Cornes M. J., Foldi B., Miller F., Dabney K. Clinical epidemiologic characterization of orthopaedic and neurological manifestations in children with leukodystrophies. J Pediatr Orthop: 2011; 31 5 587 593
62. Nelson C., Mundorff M. B., Korgenski E. K., Brimley C. J., Srivastava R., Bonkowsky J. L. Determinants of health care use in a population-based leukodystrophy cohort. J Pediatr: 2013; 162 3 624 628, e1
63. Anderson H. M., Wilkes J., Korgenski E. K., et al. Preventable infections in children with leukodystrophy. Ann Clin Transl Neurol: 2014; 1 5 370 374
64. Lu J. F., Lawler A. M., Watkins P. A., et al. A mouse model for X-linked adrenoleukodystrophy. Proc Natl Acad Sci U S A: 1997; 94 17 9366 9371
65. Kobayashi T., Shinnoh N., Kondo A., Yamada T. Adrenoleukodystrophy protein-deficient mice represent abnormality of very long chain fatty acid metabolism. Biochem Biophys Res Commun: 1997; 232 3 631 636
66. Forss-Petter S., Werner H., Berger J., et al. Targeted inactivation of the X-linked adrenoleukodystrophy gene in mice. J Neurosci Res: 1997; 50 5 829 843
67. Morató L., Galino J., Ruiz M., et al. Pioglitazone halts axonal degeneration in a mouse model of X-linked adrenoleukodystrophy. Brain: 2013; 136 Pt 8 2432 2443
68. Min K. T., Benzer S. Preventing neurodegeneration in the Drosophila mutant bubblegum. Science: 1999; 284 5422 1985 1988
69. Hagemann T. L., Connor J. X., Messing A. Alexander disease-associated glial fibrillary acidic protein mutations in mice induce Rosenthal fiber formation and a white matter stress response. J Neurosci: 2006; 26 43 11162 11173
70. Wang L., Colodner K. J., Feany M. B. Protein misfolding and oxidative stress promote glial-mediated neurodegeneration in an Alexander disease model. J Neurosci: 2011; 31 8 2868 2877
71. Koç O. N., Day J., Nieder M., Gerson S. L., Lazarus H. M., Krivit W. Allogeneic mesenchymal stem cell infusion for treatment of metachromatic leukodystrophy (MLD) and Hurler syndrome (MPS-IH). Bone Marrow Transplant: 2002; 30 4 215 222
72. Biffi A., Montini E., Lorioli L., et al. Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy. Science: 2013; 341 6148 1233158
73. Cartier N., Hacein-Bey-Abina S., Bartholomae C. C., et al. Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Science: 2009; 326 5954 818 823
74. Saher G., Rudolphi F., Corthals K., et al. Therapy of Pelizaeus-Merzbacher disease in mice by feeding a cholesterol-enriched diet. Nat Med: 2012; 18 7 1130 1135
75. Németh A. H., Kwasniewska A. C., Lise S., et al. UK Ataxia Consortium. Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model. Brain: 2013; 136 Pt 10 3106 3118
76. Purnell S. M., Bleyl S. B., Bonkowsky J. L. Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy. Pediatr Neurol: 2014; 50 6 608 611
77. Jalal K., Carter R., Yan L., Barczykowski A., Duffner P. K. Does galactocerebrosidase activity predict Krabbe phenotype? Pediatr Neurol: 2012; 47 5 324 329
78. May T., Zusevics K. L., Strong K. A. On the ethics of clinical whole genome sequencing of children. Pediatrics: 2013; 132 2 207 209
79. Knoppers B. M., Sénécal K., Borry P., Avard D. Whole-genome sequencing in newborn screening programs. Sci Transl Med: 2014; 6 229 cm2