NCL-Entrance-page - Childhood Dementia 

Further Childhood Dementias

As well as NCL there are a number of other diseases which can be included under the umbrella of childhood dementia. Childhood dementia is itself not a clinical diagnosis but is the main symptom or a side effect of other illnesses. It normally appears in rare genetic diseases, where one or more genes is mutated. Symptoms of dementia usually appear in two groups of disease - leukodystrophys and lysosomal storage diseases.

 

In the following table some diseases which lead to symptoms of dementia are listed:


Disease (Synonym)

Onset of Disease

Symptoms

Affected Gene

Inheritance

Niemann-Pick Disease Type C

 

very variable: between one month and fifty years

 

Learning difficulties,  memory loss, paralysis of vertical eye movements, decreased muscle tension, enlargement of spleen and liver, confusion, dementia

NPC1 (95% of affected)

 

NPC2 (4% of affected)

Autosomalrecessive

 

Adrenoleukodystrophy (Addison-Schilder Disease)

7th – 12thyear of life

Loss of speech and sight, seizures, impaired motor functions, personality changes, incontinence, dementia in final stages

 

ABCD1

X-chromosomal recessive

Aicardi-Goutières Disease (Basal Ganglia Encephalopathy)

In the first days or months of life

Problems feeding, nervousness, jerky eye movements, slight fevers, epilepsy, loss of mental and motor function

TREX1

RNaseH2A RNaseH2B RNaseH2C

SAMHD1

Autosomal recessive

Sanfilippo Syndrome (Mucopolysaccharidosis Type 3)

2nd – 6thyear of life

 

Behavioural Issues (Over active and aggressive behaviour, disrupted sleep), coarse facial features, loss of speech, paralysis, epileptic seizures, loss of mental and motor functions

 

MPS IIIA

MPS IIIB

MPS IIIC

MPS IIID

Autosomal recessive

Pelizaeus-Merzbacher Disease

 

Congenital Form: Shortly after birth

 

Classic Form:

1st year of life

Jerky eye movements, ataxia, spastic tetraparesis, muscle hypotonia and general limpness, loss of mental abilities

PLP1

X-chromosomal recessive

Tay-Sachs Disease

Infantile Form:

2nd – 6thyear of life

 

Juvenile Form:

3rd – 6thmonth of life

 

Movement loss, loss of mental abilities

 

Sensitivity to noise with nervousness, sight problems

HEXA

autosomal-recessive

 

Juvenile Huntingtons Disease

Before the 20th year of life

Frequent Parkinsons-like symptoms, change in behaviour, learning difficulties, dystonic movement loss, rapid mental deterioration, stiffening (rigidity), frequent epileptic seizures

 

HTT

autosomal-dominant

 

 

This German - English translation was done by the translators Tizzy Mann, Andrea Murphy, Kate Humby and Marcia Neff for the PerMondo initiative that involves providing free translations for NGOs. PerMondo is sponsored and run by the translation agency Mondo Agit.