First Record Mutations in the Genes ASPA and ARSA Causing Leukodystrophy in Jordan
Table 1
List of the LD diseases and the associated inheritance patterns.
LD
Inheritance
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)
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
diseases as indicated in [3]. pattern as stated in OMIM database (www.omim.org); AR: autosomal recessive; AD: autosomal dominant; XLD: X-linked dominant; XLR: X-linked recessive.
