Types of Leukodystrophy

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 Polyglucosan Body Disease
  6. Aicardi-Goutieres Syndrome
  7. Alexander Disease
  8. Autosomal Dominant Diffuse Leukoencephalopathy with Neuroaxonal Spheroids (HDLS)
  9. AARS
  10. AARS2
  11. Canavan Disease
  12. Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)
  13. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
  14. Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL)
  15. Cerebroretinal Micro-Angiography with Calcifications and Cysts
  16. Cerebrotendinous Xanthomatosis (CTX)
  17. Childhood Ataxia with Central Nervous System Hypomyelination (CACH) – See Vanishing White Matter Disease
  18. ClC2-related leukoencephalopathy
  19. Coates plus
  20. Cockayne syndrome
  21. Elongation of Very Long-Chain Fatty Acids-4 (ELOVL4; Pseudo-Sjogren-Larsson)
  22. Fatty Acid 2-Hydroxylase Deficiency
  23. Fucosidosis
  24. Congential Muscular Dystrophy
  25. Globoid Cell Leukodystrophy (Krabbe Disease)
  26. GM1 Gangliosidosis
  27. GM2 Gangliosidosis (Tay-Sachs Disease)
  28. Herditary Diffuse Leukoencephalopathy with Axonal Spheroids (HDLS)
  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. X-linked Adrenoleukodystrophy (X-ALD)
  57. Zellweger Spectrum: Zellweger Syndrome, Neonatal Adrenoleukodystrophy, and Infantile Refsum Disease