Types of Leukodystrophy

Types of Leukodystrophy and Leukoencephalopathy

The Known Leukodystrophies (in alphabetical order)

18q Syndrome with deficiency of myelin basic protein

Acute Disseminated Encephalomyeolitis (ADEM)

Acute Disseminated Leukoencephalitis

Acute Hemorrhagic Leukoencephalopathy

Adrenoleukodystrophy (ALD) – See X-linked Adrenoleukodystrophy

Adrenomyeloneuropathy (AMN)

Adult Onset Autosomal Dominant Leukodystrophy (ADLD)

Adult Polyglucosan Body Disease

Aicardi-Goutieres Syndrome

Alexander Disease

Autosomal Dominant Diffuse Leukoencephalopathy with Neuroaxonal Spheroids (HDLS)

Autosomal Dominant Late-Onset Leukoencephalopathy

Canavan Disease

Childhood Ataxia with diffuse CNS Hypomyelination (CACH or Vanishing White Matter Disease)

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)

Cerebroretinal Micro-angiography with calcifications and cysts

Cerebrotendinous Xanthomatosis (CTX)

Childhood Ataxia with Central Nervous System Hypomyelination (CACH) – See Vanishing White Matter Disease

Craniometaphysical Dysplasia with Leukoencephalopathy

Cystic Leukoencephalopathy (RNASET2 related)

Elongation of Very Long-Chain Fatty Acids-4 (ELOVL4; Pseudo-Sjogren-Larsson)

Extensive Cerebral White Matter abnormality without clinical symptoms

Familial Adult-Onset Leukodystrophy manifesting as cerebellar ataxia and dementia

Familial Leukodystrophy with adult onset dementia and abnormal glycolipid storage

Fatty Acid 2-hydroxylase Deficiency


Fukuyama Congential Muscular Dystrophy


Globoid Cell Leukodystrophy (Krabbe Disease)

GM1 Gangliosidosis

GM2 Gangliosidosis (Tay-Sachs Disease)

Hereditary Adult Onset Leukodystrophy simulating chronic progressive multiple sclerosis

Herditary Diffuse Leukoencephalopathy with Axonal Spheroids (HDLS)

Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC)

Hypomyelination, Hypogonadotropic, Hypogonadism and Hypodontia (4H Syndrome)

Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation (LBSL)

Lipomembranous Osteodysplasia with Leukodystrophy (Nasu Disease)

Metachromatic Leukodystrophy (MLD)

Megalencephalic Leukodystrophy with subcortical Cysts (MLC)

Neuroaxonal Leukoencephalopathy with axonal spheroids (Hereditary diffuse leukoencephalopathy with spheroids – HDLS)

Neonatal Adrenoleukodystrophy (NALD)

Oculodetatoldigital Dysplasia with cerebral white matter abnormalities

Orthochromatic Leukodystrophy with pigmented glia

Ovarioleukodystrophy Syndrome

Pelizaeus Merzbacher Disease (X-linked spastic paraplegia)

Refsum Disease

Sjogren-Larsson Syndrome

Sudanophilic Leukodystrophy

Van der Knaap Syndrome (Vacuolating Leukodystrophy with Subcortical Cysts or MLC)

Vanishing White Matter Disease (VWM) or Childhood ataxia with diffuse central nervous system hypomyelination (CACH)

X-linked Adrenoleukodystrophy (X-ALD)

Zellweger Spectrum: Zellweger Syndrome, Neonatal Adrenoleukodystrophy, and Infantile Refsum Disease