Classification of Leukodystrophy and Leukoencephaloencephalopathy 

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Definition: Leukodystrophy is an umbrellar term that include diseases featured by defective formation and maintenance of myelin. The term leukodystrophy is usually reserved for disorders, often of metabolic origin, characterized by failure in maintenance of myelin.  It is, however, a morphological term and not associated with a specific pathologic process or etiology.

• Leukoencephaly: Diseases of the brain affecting predominantly or exclusively white matter of the brain.

• Leukodystrophy: Leukoencephalopathy due to defective formation and maintenance of myelin in infants and children.

Classification:

Leukodystrophies  Head

X-linked leukodystrophy

• Adrenoleukodystrophy

• Classic type

• Adrenomyeloneuropathy

• Pelizaeus-Merzbacher disease (sudanophilic leukodystrophy)

Autosomal recessive

• Globoid cell leukodystrophy (Krabbe disease)

• Metachromatic leukodystrophy

• Canavan's disease (spongy degeneration of the brain)

• Cockayne's syndrome (probably autosomal recessive)

• Aicardi-Goutières syndrome

Pattern of inheritance unknown

• Alexander’s disease

Leukoencephalopathies  Head

• Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

• Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy)

• Binswanger's disease (subcortical arteriosclerotic encephalopathy)

• Disseminated necrotizing leukoencephalopathy

• Progressive multifocal leukoencephalopathy (PML)

Leukomyelopathies  Head

• Vitamin B₁₂ deficiency

• Vitamin E deficiency

• Nutritional

• Hepatobiliary disease such as fatal familial intrahepatic cholestasis

• Cystic fibrosis

• Extensive GI surgery (e.g. Whipple procedure or intestinal resection)

• Abetalipoproteinemia  (Bassen-Kornzweig syndrome)

• Mutation of alpha-tocopherol transport protein (alpha-TTP) (e.g., Ataxia with vitamin E deficiency (AVED)

• Thallium intoxication (poisoning)

• Beribri (thiamine deficiency)

• Friedreich ataxia

• Ataxia-telangiectasia

• Xeroderma pigmentosum

• Nitrous oxide exposure, prolonged

• Inborn error of folic acid metabolism with folic deficiency

• AIDS myelopathy