Sections View Full Chapter Figures Tables Videos Annotate Full Chapter Figures Tables Videos Supplementary Content ++ See Table L-1. ++Table Graphic Jump LocationTable L-1 LeukodystrophiesView Table||Download (.pdf)Table L-1 LeukodystrophiesNameSynonymsInheritanceDefective Protein/GeneAdrenoleukodystrophySchilder Syndrome; Bronze-Schilder syndrome; sudanophilic leukodystrophyX-linkedALD proteinAdrenomyeloneuropathy (minor form of adrenoleukodystrophy)X-linkedALD proteinAicardi-Goutieres syndromeAutosomal recessiveUnknownAlexander syndromeAutosomal recessiveUnknownCACHChildhood ataxia with central nervous system hypomyelination; vanishing white matter diseaseAutosomal recessiveUnknownCADASILCerebral 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 geneRefsum SyndromeRefsum diseaseAutosomal recessiveDeficiency in phytanoyl-CoA hydroxylase (accumulation of phytanic acid) Van der Knaap syndromeVacuolating leukoencephalopathy with subcortical cystsAutosomal recessiveUnknownZellweger syndromeAutosomal recessiveAt least 10 different gene abnormalities (resulting in decreased or missing peroxisomes in liver, kidney, and brain cells) Your Access profile is currently affiliated with '[InstitutionA]' and is in the process of switching affiliations to '[InstitutionB]'. Please click ‘Continue’ to continue the affiliation switch, otherwise click ‘Cancel’ to cancel signing in. Get Free Access Through Your Institution Learn how to see if your library subscribes to McGraw Hill Medical products. Subscribe: Institutional or Individual Sign In Username Error: Please enter User Name Password Error: Please enter Password Forgot Password? Forgot Username? Sign in via OpenAthens Sign in via Shibboleth