Conditions that cause childhood dementia
So far, over 70 rare neurodegenerative genetic disorders have been identified as causing childhood dementia.
Childhood Dementia Initiative is building a database containing essential information about these conditions. This will be made available as soon as possible.
In the meantime, please contact us if you need data at: hello@childhooddementia.org
Lysosomal disorders of lipid metabolism and transport
- Combined Saposin (Prosaposin) Deficiency
- Farber Disease
- Gaucher Disease (Type 2)
- Gaucher Disease (Type 3)
- Globoid Cell Leukodystrophy (Krabbe Disease)
- GM1 Gangliosidosis (Type 1 and 2)
- GM2 Gangliosidosis - AB Variant
- GM2 Gangliosidosis (Tay Sachs Disease)
- GM2 Gangliosidosis (Sandhoff Disease)
- Metachromatic Leukodystrophy
- Multiple Sulfatase Deficiency
- Niemann-Pick A
- Niemann-Pick C
- Saposin A Deficiency
- Saposin B Deficiency
- Saposin C Deficiency
Glycoproteinosis
- Alpha-Mannosidosis
- α-N-acetylgalactosaminidase Deficiency (Schindler Disease (Type I))
- Aspartylglucosaminuria (AGU)
- Beta-Mannosidosis
- Fucosidosis (Type I and II)
- Galactosialidosis (Cathepsin A Mutation)
- Mucolipidosis Type I (Sialidosis)
- Mucolipidosis (Type II) (i-Cell Disease)
- Mucolipidosis (Type IV)
Mucopolysaccharidoses
- MPS I (Hurler Syndrome)
- MPS II (Hunter Syndrome)
- MPS III (Sanfilippo Syndrome)
- MPS VII (Sly Syndrome)
Other lysosomal diseases
- Neuronal Ceroid Lipofuscinoses (NCLs or Batten disease); 14 subtypes (except those that are adult onset CLN 4, 11, 13 )
- Sialic Acid Storage Disease
Other disorders of lipid metabolism and transport
- Abetalipoproteinaemia
- Cerebrotendinous Xanthomatosis
Disorders of amino acid and other organic acid metabolism
- Canavan Disease
- Glutathione Synthetase Deficiency
- Glycine Encephalopathy / nonKetotic Hyperglycinemia
- Holocarboxylase synthetase deficiency
- Sulfite Oxidase Deficiency
Vitamin-responsive inborn errors of metabolism
- Biotinidase deficiency
- Biotin-Thiamine-Responsive Basal Ganglia Disease
- Cerebral Folate Deficiency
- Cobalamin C Disease / Deficiency (Cbl-C)
- Molybdenum Cofactor Deficiency
- SLC5A6 deficiency
Disorders of mineral absorption and transport
- Menkes Disease
- Wilson Disease
Peroxisomal disease
- X-linked Adrenoleukodystrophy
- Zellweger Spectrum Disorder
Mitochondrial disorders
Including but not limited to: Leighs, KSS, MELAS and Alpers-Huttenlocher syndrome.
Other Inborn errors of metabolism
- Congenital Disorders of Glycosylation (subset of e.g. CDG1E, CDG1J, CDG2A)
- Lafora Disease
Leukodystrophies not otherwise categorised
- Alexander Disease (Type I)
- Pelizaeus Merzbacher Disease
- POLR3-Related Leukodystrophies
- Vanishing White Matter Disease / Childhood Ataxia with Central Nervous System Hypomyelination
Neurodegeneration with brain iron accumulation
- Beta propeller protein associated neurodegeneration (BPAN)
- Coenzyme A synthase protein-associated neurodegeneration (COASY)
- Fatty acid hydroxylase-associated neurodegeneration (FAHN)
- Kufor-Rakeb Syndrome
- Mitochondrial membrane protein-associated neurodegeneration (MPAN)
- Pantothenate kinase-associated neurodegeneration (PKAN)
- Woodhouse-Sakati Syndrome (DCAF17)
Neurodegenerative diseases not otherwise categorised
- Cockayne Syndrome
- Giant axonal neuropathy
- Huntington's Disease (Juvenile Form)
- Infantile Neuroaxonal Dystrophy
- Juvenile Parkinson's Disease PARK19A (DNAJC6)
- MECP2 duplication syndrome
- Other HD-Like Variants (particularly HDL3)
- Rett Syndrome