The ULF is currently rewriting the content linked in the list below. We are working with our Medical and Scientific Advisory Board, our Board of Directors, and a handful of other leukodystrophy experts to get these pages updated as quickly as possible. Thank you for your patience, as we work on this section of our website! Our goal is to have a clickable link for each type, which will be updated periodically in the future as new information becomes available.

Known Types of Leukodystrophy and Leukoencephalopathy (in alphabetical order)

  1. 18q Syndrome with Deficiency of Myelin Basic Protein
  2. Adrenoleukodystrophy (ALD) – See X-linked Adrenoleukodystrophy
  3. Adrenomyeloneuropathy (AMN)
  4. Adult-Onset Autosomal Dominant Leukodystrophy (ADLD)
  5. Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP)
  6. Adult Polyglucosan Body Disease
  7. Aicardi-Goutieres Syndrome
  8. Alexander Disease
  9. Alkaline Ceramidase 3 (ACER3)
  10. AARS
  11. AARS2
  12. Canavan Disease
  13. Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)
  14. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
  15. Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL)
  16. Cerebroretinal Micro-Angiography with Calcifications and Cysts
  17. Cerebrotendinous Xanthomatosis (CTX)
  18. Childhood Ataxia with Central Nervous System Hypomyelination (CACH) – See Vanishing White Matter Disease
  19. ClC2-related leukoencephalopathy
  20. Coates plus
  21. Cockayne syndrome
  22. Elongation of Very Long-Chain Fatty Acids-4 (ELOVL4; Pseudo-Sjogren-Larsson)
  23. Fatty Acid 2-Hydroxylase Deficiency
  24. Fucosidosis
  25. Congential Muscular Dystrophy
  26. Globoid Cell Leukodystrophy (Krabbe Disease)
  27. GM1 Gangliosidosis
  28. GM2 Gangliosidosis (Tay-Sachs Disease)
  29. Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC)
  30. Hypomyelination, Hypogonadotropic, Hypogonadism and Hypodontia (4H Syndrome)
  31. Hypomyelination with Brainstem and Spinal Cord involvement and Leg Spasticity (HBSL)*
  32. Hypomyelination with congenital cataract (HCC)
  33. Hypomyelination not otherwise specified
  34. Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation (LBSL) 
  35. Leukoencephalopathy with calcifications and cysts (LCC)
  36. Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)
  37. Lipomembranous Osteodysplasia with Leukodystrophy (Nasu Disease)
  38. Metachromatic Leukodystrophy (MLD)
  39. Megalencephalic Leukodystrophy with subcortical Cysts (MLC)
  40. Mitochondrial leukodystrophies
  41. Multiple sulfatase deficiency
  42. Neuroaxonal Leukoencephalopathy with axonal spheroids (Hereditary diffuse leukoencephalopathy with spheroids – HDLS)
  43. Neonatal Adrenoleukodystrophy (NALD)
  44. Oculodetatoldigital Dysplasia with Cerebral White Matter Abnormalities
  45. Orthochromatic Leukodystrophy with Pigmented Glia
  46. Ovarioleukodystrophy Syndrome
  47. Pelizaeus Merzbacher Disease (X-linked spastic paraplegia)
  48. Pelizaeus Merzbacher like-disease (PMLD)*
  49. RARS2-related hypomyelination
  50. Refsum Disease
  51. RNAse T2 deficient leukoencephalopathy
  52. Sialic acid storage disorders (Salla disease, Infantile Sialic Acid Storage Disease and Intermediate form)
  53. Sjogren-Larsson Syndrome
  54. SOX10-associated PCWH: peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease
  55. Vanishing White Matter Disease (VWM) or Childhood Ataxia with Diffuse Central Nervous System Hypomyelination (CACH)
  56. Zellweger Spectrum: Zellweger Syndrome, Neonatal Adrenoleukodystrophy, and Infantile Refsum Disease
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