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