Table 1.
List of the LD diseases and the associated inheritance patterns.
| LD Diseases1 | Inheritance pattern2 |
|---|---|
| Pol-III related disorders (4H syndrome (hypomyelination, hypodontia and hypogonadotropic hypogonadism)) | AR |
| 18q minus syndrome | AD |
| X linked Adrenoleukodystrophy | XLD |
| Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia (including hereditary diffuse leukoencephalopathy with spheroids, HDLS, and pigmentary type of orthochromatic leukodystrophy with pigmented glia, POLD) | AD |
| Aicardi–Goutières Syndrome | AD |
| Alexander disease | AD |
| Autosomal Dominant Leukodystrophy with Autonomic disease | AD |
| Canavan disease | AR |
| Cerebrotendinous Xanthomatosis | AR |
| Chloride Ion Channel 2 (ClC-2) related leukoencephalopathy with intramyelinic oedema | AR |
| eIF2B related disorder (Vanishing White Matter Disease or Childhood ataxia with central nervous system hypomyelination (CACH)) | AR |
| Fucosidosis | AR |
| Globoid cell Leukodystrophy (Krabbe) | AR |
| Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) | AD |
| Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) | AR |
| Hypomyelination with congenital cataract (HCC) | AR |
| Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) | AR |
| Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) | AR |
| Megalencephalic Leukoencephalopathy with subcortical cysts (MLC) | AR |
| Metachromatic leukodystrophy (MLD) and its biochemical variants | AR |
| Oculodentodigital dysplasia | AD |
| Pelizaeus Merzbacher disease (PMD) | XLR |
| Pelizaeus Merzbacher like-disease (PMLD) | AR |
| Peroxisomal Biogenesis disorders (including Zellweger, neonatal Adrenoleukodystrophy and Infantile Refsum) | AR |
| Polyglucosan Body Disease (PGBD) | AR |
| RNAse T2 deficient leukoencephalopathy | AR |
| Sialic acid storage disorders (Salla disease, Infantile Sialic Acid Storage Disease and Intermediate form) | AR |
| 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) | AR |
| Sjögren–Larsson syndrome | AR |
| SOX10-associated PCWH: peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease | AD |
1LD diseases as indicated in [3].
2Inheritance pattern as stated in OMIM database (www.omim.org); AR: autosomal recessive; AD: autosomal dominant; XLD: X-linked dominant; XLR: X-linked recessive.