Types of Leukodystrophy

Known Types of Leukodystrophy and Leukoencephalopathy (in alphabetical order)

  1. 18q Syndrome with Deficiency of Myelin Basic Protein
  2. Acute Disseminated Encephalomyeolitis (ADEM)
  3. Acute Disseminated Leukoencephalitis
  4. Acute Hemorrhagic Leukoencephalopathy
  5. Adrenoleukodystrophy (ALD) – See X-linked Adrenoleukodystrophy
  6. Adrenomyeloneuropathy (AMN)
  7. Adult Onset Autosomal Dominant Leukodystrophy (ADLD)
  8. Adult Polyglucosan Body Disease
  9. Aicardi-Goutieres Syndrome
  10. Alexander Disease
  11. Autosomal Dominant Diffuse Leukoencephalopathy with Neuroaxonal Spheroids (HDLS)
  12. Autosomal Dominant Late-Onset Leukoencephalopathy
  13. Canavan Disease
  14. Childhood Ataxia with Diffuse CNS Hypomyelination (CACH or Vanishing White Matter Disease)
  15. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
  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. Craniometaphysical Dysplasia with Leukoencephalopathy
  20. Cystic Leukoencephalopathy (RNASET2 related)
  21. Elongation of Very Long-Chain Fatty Acids-4 (ELOVL4; Pseudo-Sjogren-Larsson)
  22. Extensive Cerebral White Matter Abnormality without Clinical Symptoms
  23. Familial Adult-Onset Leukodystrophy Manifesting as Cerebellar Ataxia and Dementia
  24. Familial Leukodystrophy with Adult Onset Dementia and Abnormal Glycolipid Storage
  25. Fatty Acid 2-Hydroxylase Deficiency
  26. Fucosidosis
  27. Fukuyama Congential Muscular Dystrophy
  28. Galactosialidosis
  29. Globoid Cell Leukodystrophy (Krabbe Disease)
  30. GM1 Gangliosidosis
  31. GM2 Gangliosidosis (Tay-Sachs Disease)
  32. Hereditary Adult Onset Leukodystrophy Simulating Chronic Progressive Multiple Sclerosis
  33. Herditary Diffuse Leukoencephalopathy with Axonal Spheroids (HDLS)
  34. Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC)
  35. Hypomyelination, Hypogonadotropic, Hypogonadism and Hypodontia (4H Syndrome)
  36. Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation (LBSL)
  37. Lipomembranous Osteodysplasia with Leukodystrophy (Nasu Disease)
  38. Metachromatic Leukodystrophy (MLD)
  39. Megalencephalic Leukodystrophy with subcortical Cysts (MLC)
  40. Neuroaxonal Leukoencephalopathy with axonal spheroids (Hereditary diffuse leukoencephalopathy with spheroids – HDLS)
  41. Neonatal Adrenoleukodystrophy (NALD)
  42. Oculodetatoldigital Dysplasia with Cerebral White Matter Abnormalities
  43. Orthochromatic Leukodystrophy with Pigmented Glia
  44. Ovarioleukodystrophy Syndrome
  45. Pelizaeus Merzbacher Disease (X-linked spastic paraplegia)
  46. Refsum Disease
  47. Sjogren-Larsson Syndrome
  48. Sudanophilic Leukodystrophy – See Adrenoleukodystrophy – ALD
  49. Van der Knaap Syndrome (Vacuolating Leukodystrophy with Subcortical Cysts or MLC)
  50. Vanishing White Matter Disease (VWM) or Childhood Ataxia with Diffuse Central Nervous System Hypomyelination (CACH)
  51. X-linked Adrenoleukodystrophy (X-ALD)
  52. Zellweger Spectrum: Zellweger Syndrome, Neonatal Adrenoleukodystrophy, and Infantile Refsum Disease