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Conditions that cause childhood dementia

So far, over 100 rare neurodegenerative genetic disorders have been identified as causing childhood dementia (1). 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

INBORN ERRORS OF METABOLISM

Lysosomal disorders

Glycoproteinosis

Alpha-mannosidosis

Aspartylglucosaminuria (AGU)

Fucosidosis (type I and II)

Galactosialidosis

Mucolipidosis type II (i-cell disease)

alpha-N-acetylgalactosaminidase deficiency (Schindler disease type I)

Beta-mannosidosis

Mucolipidosis type IV

Mucolipidosis type I (sialidosis type 2)

Lysosomal disorders of lipid metabolism and transport

Gaucher disease (type 2)

Gaucher disease (type 3)

Globoid cell leukodystrophy (Krabbe disease)

GM1 gangliosidosis (type 1)

GM1 gangliosidosis (type 2)

GM2 gangliosidosis (Sandhoff disease)

GM2 gangliosidosis (Tay Sachs disease)

Metachromatic leukodystrophy

Multiple sulfatase deficiency

Niemann-Pick disease type A

Niemann-Pick disease type C

Combined saposin (prosaposin) deficiency

Farber disease

GM2 gangliosidosis - AB variant

Saposin A deficiency

Saposin B deficiency

Saposin C deficiency

Mucopolysaccharidoses

  • MPS I (Hurler syndrome)
  • MPS II (Hunter syndrome)
  • MPS III (Sanfilippo syndrome); 4 subtypes
  • MPS VII (Sly syndrome)

Other lysosomal diseases

  • Neuronal ceroid lipofuscinoses (Batten disease, 10 childhood onset subtypes)
  • Sialic acid storage disease

Other disorders of lipid metabolism and transport


  • Cerebrotendinous xanthomatosis*
  • Abetalipoproteinaemia
  • Encephalopathy, progressive, with or without lipodystrophy
  • Infantile neuroaxonal dystrophy/PLA2G6-associated neurodegeneration (PLAN)

Disorders of amino acid and other organic acid metabolism

  • Canavan disease
  • Nonketotic hyperglycinemia (including variants)
  • 3-methylglutaconic aciduria type 7*
  • Glutathione synthetase deficiency
  • L-2-hydroxyglutaric aciduria
  • Sulfite oxidase deficiency

Vitamin-responsive inborn errors of metabolism

  • Molybdenum cofactor deficiency
  • Cobalamin C disease
  • Biotin-thiamine-responsive basal ganglia disease
  • Cerebral folate deficiency
  • SLC5A6 deficiency

Disorders of mineral absorption and transport

  • Menkes disease
  • Dystonia-parkinsonism-hypermanganesemia syndrome*

Peroxisomal diseases

  • D-bifunctional protein deficiency
  • X-linked adrenoleukodystrophy*
  • Zellweger spectrum disorder
  • Peroxisomal fatty acyl-coa reductase 1 disorder
  • Peroxisomal acyl-coa oxidase deficiency

Mitochondrial disorders*

at least 12 clinical categories including:

  • Leigh syndrome
  • Alpers-Huttenlocher syndrome
  • MCHS
  • MEMSA
  • MEGDEL
  • Pearson syndrome
  • congenital lactic acidosis
  • Kearns-Sayre syndrome
  • MELAS
  • MERRF
  • NARP
  • MNGIE

Other Inborn errors of metabolism 

  • Lafora disease
  • Congenital disorders of glycosylation (some including CDG1E, CDG1J, CDG2A)*
  • Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
  • Pyruvate dehydrogenase deficiency
  • Salt and pepper developmental regression syndrome

LEUKODYSTROPHIES NOT OTHERWISE CATEGORISED

  • Alexander disease (type I)
  • Pelizaeus Merzbacher disease (PMD)*
  • Vanishing white matter disease
  • Aicardi-Goutières syndrome*
  • Brain abnormalities, neurodegeneration, and dysosteosclerosis
  • Coats plus syndrome
  • Leukodystrophy, hypomyelinating, 15
  • Leukodystrophy, hypomyelinating, 20
  • Leukodystrophy, hypomyelinating, 6
  • Leukodystrophy, progressive, early childhood-onset
  • Megalencephalic leukoencephalopathy with subcortical cysts 2a
  • POLR3-related leukodystrophies
  • Pycr2-related microcephaly-progressive leukoencephalopathy

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION

  • Pantothenate kinase-associated neurodegeneration (PKAN)
  • 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)
  • Woodhouse-Sakati syndrome

DISEASES NOT OTHERWISE CATEGORISED

  • Ataxia-telangiectasia*
  • Cockayne syndrome/ xeroderma pigmentosum-Cockayne syndrome*
  • Huntington disease (juvenile form)
  • MECP2 duplication syndrome
  • Neurodegeneration due to 3-hydroxyisobutyryl-coa hydrolase deficiency
  • Rett syndrome
  • Alternating hemiplegia of childhood*
  • Christianson syndrome
  • Dentatorubral-pallidoluysian atrophy (DRPLA)*
  • Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
  • Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
  • Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
  • Encephalopathy, familial, with neuroserpin inclusion bodies*
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 and 2
  • Giant axonal neuropathy
  • Huntington disease-like 3
  • Juvenile Parkinson's disease PARK19A (DNAJC6)
  • Leukoencephalopathy, brain calcifications, and cysts*
  • Leukoencephalopathy, progressive, infantile-onset, with or without deafness
  • Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures*
  • Neurodegeneration, childhood-onset, with brain atrophy*
  • Neurodevelopmental disorder with poor language and loss of hand skills
  • Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities*
  • Neurodevelopmental disorder with seizures and gingival overgrowth*
  • Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia*
  • Nijmegen breakage syndrome*
  • Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
  • Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
  • Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
  • PEHO (Progressive encephalopathy, oedema, hypsarrhythmia and optic atrophy) / KIF1A Associated Neurological Disorder (KAND) *
  • Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
  • Spastic paraplegia type 11
  • Spastic paraplegia type 15
  • Spastic paraplegia type 46
  • Spastic paraplegia type 82
  • Spinocerebellar ataxia type 7
  • Spinocerebellar ataxia 17&
  • Schinzel-Giedion syndrome
  • Temtamy syndrome

This list will be regularly reviewed and new conditions added as new evidence emerges.


1. Elvidge KL, Christodoulou J, Farrar MA, Tilden D, Maack M, Valeri M, Ellis M, Smith NJC; Childhood Dementia Working Group. The collective burden of childhood dementia: a scoping review. Brain. 2023 Jul 20:awad242. doi: 10.1093/brain/awad242. Epub ahead of print. PMID: 37471493. https://doi.org/10.1093/brain/awad242

* Highly variable condition, only some patients diagnosed will have childhood dementia

& Other spinocerebellar ataxias (SCAs) that are usually adult onset may also very rarely cause childhood dementia e.g. SCA1, 2, 10 and 12

Note: There are also more than 25 treatable disorders with close to normal life expectancy assuming early diagnosis and stringent treatment not listed here. For more information see: The collective burden of childhood dementia: a scoping review.