Types of Leukodystrophy

Types of Leukodystrophy and Leukoencephalopathy

The known leukodystrophies in alphabetical order are:

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)

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