Leucodistrofias en niños

1. Heim P, Claussen M, Hoffmann B, et al. Leukodystrophy incidence in Germany. Am J Med Genet. 1997;71(4):475–478

2. Bonkowsky JL, Nelson C, Kingston JL, Filloux FM, Mundorff MB, Srivastava R. The burden of inherited leukodystrophies in children. Neurology. 2010;75(8):718–725

3. Vanderver A, Hussey H, Schmidt JL, Pastor W, Hoffman HJ. Relative incidence of inherited white matter disorders in childhood to acquired pediatric demyelinating disorders. Semin Pediatr

Neurol. 2012;19(4):219–223

4. Soderholm HE, Chapin AB, Bayrak-Toydemir P, Bonkowsky JL. Elevated leukodystrophy incidence predicted from genomics databases. Pediatr Neurol. 2020;111:66–69

5. Duffner PK, Barczykowski A, Jalal K, Yan L, Kay DM, Carter RL. Early infantile Krabbe disease: results of the World- Wide Krabbe Registry. Pediatr Neurol. 2011;45(3):141–148

6. Lynch DS, Rodrigues Brand~ao de Paiva A, Zhang WJ, et al. Clinical and genetic characterization of leukoencephalopathies in adults. Brain. 2017;140(5):1204–1211

7. Kaul R, Gao GP, Aloya M, et al. Canavan disease: mutations among Jewish and non-Jewish patients. Am J Hum Genet. 1994;55(1):34–41

8. Coelho JC, Wajner M, Burin MG, Vargas CR, Giugliani R. Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism. Eur J Pediatr. 1997;156(8):650–654

9. Amin M, Elsayed L, Ahmed AE. Clinical and genetic characteristics of leukodystrophies in Africa. J Neurosci Rural Pract. 2017;8(Suppl 1):S89–S93

10. Ashrafi MR, Rezaei Z, Heidari M, et al. The first report of relative incidence of inherited white matter disorders in an Asian country based on an Iranian bioregistry system. J Child Neurol. 2018;33(4):255–259

11. Holve S, Hu D, McCandless SE. Metachromatic leukodystrophy in the Navajo: fallout of the American-Indian wars of the nineteenth century. Am J Med Genet. 2001;101(3):203–208

12. Gulati S, Jain P, Chakrabarty B, Kumar A, Gupta N, Kabra M. The spectrum of leukodystrophies in children: Experience at a tTREiary care centre from North India. Ann Indian Acad Neurol. 2016;19(3):332–338

13. Ji H, Li D, Wu Y, et al. Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients. PLoS One. 2018;13(2):e0188869

14. Young RS, Osbakken MD, Alger PM, Ramer JC, Weidner WA, Daigh JD. Magnetic resonance imaging in leukodystrophies of childhood. Pediatr Neurol. 1985;1(1):15–19

15. Barkovich AJ. Magnetic resonance techniques in the assessment of myelin and myelination. J Inherit Metab Dis. 2005;28(3):311–343

16. Parikh S, Bernard G, Leventer RJ, et al; GLIA Consortium. A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. Mol Genet Metab. 2015; 114(4):501–515

17. Vanderver A, Simons C, Helman G, et al; Leukodystrophy Study Group. Whole exome sequencing in patients with white matter abnormalities. Ann Neurol. 2016;79(6):1031–1037

18. Eichler F, Duncan C, Musolino PL, et al. Hematopoietic stem-cell gene therapy for cerebral adrenoleukodystrophy. N Engl J Med. 2017;377(17): 1630–1638

19. Smyth AR, Bell SC, Bojcin S, et al; European Cystic Fibrosis Society. European Cystic Fibrosis Society standards of care: best practice guidelines. J Cyst Fibros. 2014;13 (suppl 1):S23–S42

20. Anderson HM, Wilkes J, Korgenski EK, et al. Preventable infections in children with leukodystrophy. Ann Clin Transl Neurol. 2014;1(5):370–374

21. Health Resources and Services Administration. Recommended Uniform Screening Panel. Available at: https://www.hrsa.gov/advisory-committees/heritable-disorders/PDUR/index.html.

22. Salzman R, Kemp S. Newborn screening. 2018. Available at: https:// adrenoleukodystrophy.info/clinical-diagnosis/newborn-screening. Accessed June 19, 2019

23. Vanderver A, Prust M, Tonduti D, et al; GLIA Consortium. Case definition and classification of leukodystrophies and leukoencephalopathies. Mol Genet Metab. 2015;114(4):494–500

24. Cox CS, Dubey P, Raymond GV, Mahmood A, Moser AB, Moser HW. Cognitive evaluation of neurologically asymptomatic boys with X-linked adrenoleukodystrophy. Arch Neurol. 2006;63(1):69–73

25. Hobson GM, Garbern JY. Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacherlike disease 1, and related hypomyelinating disorders. Semin Neurol. 2012;32(1):62–67

26. Goutieres F. Aicardi-Goutieres syndrome. Brain Dev. 2005;27(3):201–206

27. Wasserstein MP, Andriola M, Arnold G, et al. Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State. Genet Med. 2016;18(12):1235–1243

28. Schiffmann R, van der Knaap MS. Invited article: an RM-based approach to the diagnosis of white matter disorders. Neurology. 2009;72(8):750–759

29. Steenweg ME, Vanderver A, Blaser S, et al. Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain. 2010;133(10):2971–2982

30. La Piana R, Tonduti D, Gordish Dressman H, et al. Brain magnetic resonance imaging (RM) pattern recognition in Pol III-related leukodystrophies. J Child Neurol. 2014;29(2):214–220

31. Yang E, Prabhu SP. Imaging manifestations of the leukodystrophies, inherited disorders of white matter. Radiol Clin North Am. 2014;52(2):279–319

32. La Piana R, Uggetti C, Roncarolo F, et al. Neuroradiologic patterns and novel imaging findings in Aicardi-Goutieres syndrome. Neurology. 2016;86(1):28–35

33. van der Knaap MS, Valk J, de Neeling N, Nauta JJ. Pattern recognition in magnetic resonance imaging of white matter disorders in children and young adults. Neuroradiology. 1991;

33(6):478–493

34. van der Knaap MS, 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 KM, Patton A. Assessment of normal myelination with magnetic resonance imaging. Semin Neurol. 2012;32(1):15–28

36. van der Knaap MS, Valk J, Bakker CJ, 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, Lopez-Sala A, Sebastian-Galles N, et al. Delayed myelination in children with developmental delay detected by volumetric RM. Neuroimage. 2004; 22(2):897–903

38. Jones BV, Barron TF, Towfighi J. Optic nerve enlargement in Krabbe’s disease. AJNR Am J Neuroradiol. 1999; 20(7):1228–1231

39. Nandhagopal R, Krishnamoorthy SG. Neurological picture. Tigroid and leopard skin pattern of dysmyelination in metachromatic leucodystrophy. J Neurol Neurosurg Psychiatry. 2006;77(3):344

40. Ashrafi MR, Tavasoli AR. Childhood leukodystrophies: A literature review of updates on new definitions, classification, diagnostic approach and management. Brain Dev. 2017;39(5):369–385

41. Yang Y, Muzny DM, Reid JG, et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013;369(16):1502–1511

42. Nemeth AH, Kwasniewska AC, 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

43. Purnell SM, Bleyl SB, Bonkowsky JL. Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy. Pediatr Neurol. 2014;50(6):608–611

44. Raymond GV, Jones RO, Moser AB. Newborn screening for adrenoleukodystrophy: implications for therapy. Mol Diagn Ther. 2007;11(6):381–384

45. Jalal K, Carter R, Yan L, Barczykowski A, Duffner PK. Does galactocerebrosidase activity predict Krabbe phenotype? Pediatr Neurol. 2012;47(5):324–329

46. Ostrander BEP, Butterfield RJ, Pedersen BS, et al. Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy. NPJ Genom Med. 2018;3:22

47. May T, Zusevics KL, Strong KA. On the ethics of clinical whole genome sequencing of children. Pediatrics. 2013;132(2):207–209

48. Knoppers BM, Senecal K, Borry P, Avard D. Whole-genome sequencing in newborn screening programs. Sci Transl Med. 2014;6(229):229cm2

49. Orsini JJ, Martin MM, Showers AL, et al. Lysosomal storage disorder 411 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

50. Duffner PK, Caggana M, Orsini JJ, et al. Newborn screening for Krabbe disease: the New York State model. Pediatr Neurol. 2009;40(4):245–252; discussion 253–255

51. Orsini JJ, Morrissey MA, Slavin LN, et al. Implementation of newborn screening for Krabbe disease: population study and cutoff determination. Clin Biochem. 2009;42(9):877–884

52. Orsini JJ, Kay DM, Saavedra-Matiz CA, et al; New York State Krabbe Disease Consortium. Newborn screening for Krabbe disease in New York State: the first eight years’ experience. Genet Med. 2016;18(3):239–248