Adrenoleukodystrophy | Schilder Syndrome; Bronze-Schilder syndrome; sudanophilic leukodystrophy | X-linked | ALD protein |
Adrenomyeloneuropathy (minor form of adrenoleukodystrophy) | | X-linked | ALD protein |
Aicardi-Goutieres syndrome | | Autosomal recessive | Unknown |
Alexander syndrome | | Autosomal recessive | Unknown |
CACH | Childhood ataxia with central nervous system hypomyelination; vanishing white matter disease | Autosomal recessive | Unknown |
CADASIL | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | Autosomal dominant | Chromosome 19p13.1 (Notch3 gene) |
Canavan syndrome (several clinical forms reported) | Spongy degeneration of the brain | Autosomal recessive | Deficiency of aspartoacylase (accumulation of N-acetylaspartic acid) |
Cerebrotendinous xanthomatosis | | Autosomal recessive | Unknown (accumulation of cholestanol) |
Krabbe disease (several clinical forms reported) | Globoid cell leukodystrophy | Autosomal recessive | Chromosome 14; deficiency of galactocerebrosidase (GALC) |
Metachromatic Leukodystrophy (many subtypes) | | Autosomal recessive | Chromosome 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 syndrome | | Possibly autosomal recessive | Unknown |
Pelizaeus-Merzbacher Syndrome (several subtypes) | X-linked spastic paraplegia; PMD/SPG2 | X-linked | Duplication of or other mutation in the proteolipid protein gene |
Refsum Syndrome | Refsum disease | Autosomal recessive | Deficiency in phytanoyl-CoA hydroxylase (accumulation of phytanic acid) |
Van der Knaap syndrome | Vacuolating leukoencephalopathy with subcortical cysts | Autosomal recessive | Unknown |
Zellweger syndrome | | Autosomal recessive | At least 10 different gene abnormalities (resulting in decreased or missing peroxisomes in liver, kidney, and brain cells) |