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Leukodystrophies: Overview

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See Table L-1.

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Table L-1 Leukodystrophies
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Table L-1 Leukodystrophies
NameSynonymsInheritanceDefective Protein/Gene
AdrenoleukodystrophySchilder Syndrome; Bronze-Schilder syndrome; sudanophilic leukodystrophyX-linkedALD protein
Adrenomyeloneuropathy (minor form of adrenoleukodystrophy)X-linkedALD protein
Aicardi-Goutieres syndromeAutosomal recessiveUnknown
Alexander syndromeAutosomal recessiveUnknown
CACHChildhood ataxia with central nervous system hypomyelination; vanishing white matter diseaseAutosomal recessiveUnknown
CADASILCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathyAutosomal dominantChromosome 19p13.1 (Notch3 gene)
Canavan syndrome (several clinical forms reported)Spongy degeneration of the brainAutosomal recessiveDeficiency of aspartoacylase (accumulation of N-acetylaspartic acid)
Cerebrotendinous xanthomatosisAutosomal recessiveUnknown (accumulation of cholestanol)
Krabbe disease (several clinical forms reported)Globoid cell leukodystrophyAutosomal recessiveChromosome 14; deficiency of galactocerebrosidase (GALC)
Metachromatic Leukodystrophy (many subtypes)Autosomal recessiveChromosome 22; deficiency in arylsulfatase A (also called sulfatase A or cerebroside sulfate sulfohydrolase)
Occasionally chromosome 10; deficiency in cerebroside sulfatase activator (or saponin B)
Ovarioleukodystrophy syndromePossibly autosomal recessiveUnknown
Pelizaeus-Merzbacher Syndrome (several subtypes)X-linked spastic paraplegia; PMD/SPG2X-linkedDuplication of or other mutation in the proteolipid protein gene
Refsum SyndromeRefsum diseaseAutosomal recessiveDeficiency in phytanoyl-CoA hydroxylase (accumulation of phytanic acid)
Van der Knaap syndromeVacuolating leukoencephalopathy with subcortical cystsAutosomal recessiveUnknown
Zellweger syndromeAutosomal recessiveAt least 10 different gene abnormalities (resulting in decreased or missing peroxisomes in liver, kidney, and brain cells)

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