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Conditions that cause childhood dementia 

So far, over 70 rare neurodegenerative genetic disorders have been identified as causing childhood dementia. They are listed below. 

Childhood Dementia Knowledgebase

The Childhood Dementia Knowledgebase is a database containing all the essential information about the conditions that cause childhood dementia, gathered from the literature and with input from experts in the field. This is a free resource. 

More about the Knowledgebase

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