The Leukodystrophies (in alphabetical order)

The known leukodystrophies are listed below.

18q Syndrome with deficiency of myelin basic protein

Acute Disseminated Encephalomyeolitis (ADEM)

Acute Disseminated Leukoencephalitis

Acute Hemorrhagic Leukoencephalopathy

Adrenoleukodystrophy X-Linked (ALD)

Adrenomyeloneuropathy (AMN)

Aicardi-Goutieres Syndrome

Alexander Disease

Adult-onset Autosomal Dominant Leukodystrophy (ADLD)

Autosomal Dominant Diffuse Leukoencephalopathy with neuroaxonal spheroids (HDLS)

Autosomal Dominant Late-Onset Leukoencephalopathy

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

Canavan Disease

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

Cerebrotendinous Xanthomatosis (CTX)

Craniometaphysical Dysplasia with Leukoencephalopathy

Cystic Leukoencephalopathy with RNASET2

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

Globoid Cell Leukodystrophy (Krabbe Disease)

Hereditary Adult Onset Leukodystrophy simulating chronic progressive multiple sclerosis

Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (HABC)

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 Lleukodystrophy with pigmented glia

Ovarioleukodystrophy Syndrome

Pelizaeus Merzbacher Disease (X-linked spastic paraplegia)

Refsum Disease

Sjogren-Larssen 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