Table 1.
Thirty disorders classified as leukodystrophy by Global Leukodystrophy Initiative Consortium (GLIA).
| # | Disorder |
|---|---|
| 1 | Pol-III related disorders [4H syndrome (hypomyelination, hypodontia and hypogonadotropic hypogonadism)] |
| 2 | 18q minus syndrome |
| 3 | X linked Adrenoleukodystrophy (X-ALD) |
| 4 | Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia (including hereditary) |
| 5 | Diffuse leukoencephalopathy with spheroids, HDLS, and Pigmentary type of orthochromatic leukodystrophy with pigmented glia, POLD) |
| 6 | Aicardi-Goutières Syndrome (AGS) |
| 7 | Alexander Disease (AxD) |
| 8 | Autosomal Dominant Leukodystrophy with Autonomic disease (ADLD) |
| 9 | Canavan disease |
| 10 | Cerebrotendinous Xanthomatosis (CTX) |
| 11 | Chloride Ion Channel 2 (ClC-2) related leukoencephalopathy with intramyelinic edema |
| 12 | eIF2B related disorder [Vanishing White Matter Disease or Childhood ataxia with central nervous system hypomyelination (CACH)] |
| 13 | Fucosidosis |
| 14 | Globoid cell Leukodystrophy (Krabbe) |
| 15 | Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) |
| 16 | Hypomyelination with Brainstem and Spinal Cord involvement and Leg Spasticity (HBSL) |
| 17 | Hypomyelination with congenital cataract (HCC) |
| 18 | Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) |
| 19 | Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) |
| 20 | Megalencephalic Leukoencephalopathy with subcortical cysts (MLC) |
| 21 | Metachromatic Leukodystrophy (MLD) and its biochemical variants |
| 22 | Oculodentodigital dysplasia |
| 23 | Pelizaeus Merzbacher disease (PMD) |
| 24 | Pelizaeus Merzbacher like-disease (PMLD) |
| 25 | Peroxisomal Biogenesis disorders (including Zelleweger, neonatal Adrenoleukodystrophy and Infantile Refsum) |
| 26 | Polyglucosan Body Disease (PGBD) |
| 27 | RNAse T2 deficient leukoencephalopathy |
| 28 | Sialic acid storage disorders (Salla disease, Infantile Sialic Acid Storage Disease and Intermediate form) |
| 29 | Single enzyme deficiencies of peroxisomal fatty acid beta oxidation (including only D-Bifunctional Protein Deficiency; Sterol Carrier Protein X (SCPx) deficiency; Peroxisomal acyl-CoA-Oxidase Deficiency) |
| 30 | Sjögren-Larsson syndrome |
| SOX10-associated PCWH: peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease |