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Leukodystrophies

Leukodystrophies are inherited, progressive disorders that affect the brain, spinal cord and peripheral nerves. The myelin sheath, the main component of the white matter is extremely complex. Myelin is the protective covering of the nerve cells and acts like insulation surrounding an electric wire. Myelin is made up of thousands of chemicals, each of which affects the myelin sheath in some way. Various leukodystrophies are caused by a deficiency of one of these chemical substances.

The following are known leukodystrophies:

18q Syndrome with deficiency of myelin basic protein
Acute Disseminated Encephalomyeolitis (ADEM)
Acute Disseminated Leukoencephalitis
Acute Hemorrhagic Leukoencephalopathy
Adrenoleukodystrophy (ALD)
Adrenomyeloneuropathy (AMN)
Aicardi-Goutieres Syndrome
Alexander Disease
Adult-onset Autosomal Dominant Leukodystrophy (ADLD)
Autosomal Dominant Diffure Leukoencephalopathy with neuroaxonal spheroids
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)
Cerebrtendinous Xanthomatosis (CTX)
Craniometaphysical Dysplasia with Leukoencephalopathy
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
Neonatal Adrenoleukodystrophy
Oculodetatoldigital Dysplasia with cerebral white matter abnormalities
Orthochormatic Leukodystrophy with pigmented glia
Ovarioleukodystrophy Syndrome
Pelizaeus Merzbacher Disease (X-linked spastic paraplegia)
Refsum Disease
Retinal Vasculopathy with Cerebral Leukodystrophy
Sjogren-Larssen Syndrome
Sudanophilic Leukodystrophy
Van der Knaap Syndrome (Vacuolating Leukodystrophy with Subcortical Cysts or MLC)
X-linked Adrenoleukodystrophy (X-ALD)
Zellweger Spectrum: Zellweger Syndrome