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Batten disease

Batten disease

A group of rare, inherited disorders that affect the nervous system and usually begin during childhood

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Rachel Phythian
Rachel Phythian edited on 18 Feb 2019 1:58 am
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Batten disease

A group of rare, inherited disorders that affect the nervous system and typicallyusually startbegin during childhood

Article

Batten disease (also known as Neuronal Ceroid Lipofuscinosis (NCL)) is thea common name for a class of inherited, neurogenerativeneurodegenerative disorders that affect the ability of cells to break down waste. This leads to a build-up of material, preventing the cells from working properly and causing progressive neurological impairment. BattenThough diseasethere (alsoare knownseveral asforms Neuronalof CeroidNCL, Lipofuscinosismost (NCLs))begin during childhood and they typically begins during childhood and resultsresult in significantly shortened life expectancy.

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NCLs are triggered by the occurrence of an autosomal recessive gene mutation, with the exception of adult-onset forms which can be inherited in an autosomal recessive or autosomal dominant manner.



Characteristics of NCL

NCLs are categorized as lysosomal storage diseases. The purpose of lysosomes is to provide a digestive system for cells, breaking down fats and other kinds of material with enzymes. When those enzymes are faulty, lysosomes cannot do their job and the materials start to accumulate in brain cells and other tissue. This causes those cells to malfunction.



In the case of NCL, certain gene mutations cause faulty production of these enzymes.



Forms of Batten diseaseNCL

  • CLN3 disease, juvenile onset
  • CLN5 disease, variant late-infantile onset
  • CLN6 disease, variant late-infantile onset
  • CLN8 disease, with Epilepsy with Progressive Mental Retardation



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The term "Batten disease" was originally used in reference to CLN3 only, but is now commonly used for all forms of NCLs.

Further reading

Title
Author
Link
Type

Neuronal ceroid lipofuscinosis - Conditions - GTR - NCBI



Web

Neuronal ceroid lipofuscinosis | Genetic and Rare Diseases Information Center (GARD)



Web

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Rachel Phythian
Rachel Phythian approved a suggestion from Golden's AI on 18 Feb 2019 12:15 am
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  • CLN8CLN8 disease, with Epilepsy with Progressive Mental Retardation
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Rachel Phythian approved a suggestion from Golden's AI on 18 Feb 2019 12:15 am
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  • CLN5CLN5 disease, variant late-infantile onset
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Rachel Phythian approved a suggestion from Golden's AI on 18 Feb 2019 12:15 am
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  • CLN3CLN3 disease, juvenile onset
Rachel Phythian
Rachel Phythian approved a suggestion from Golden's AI on 18 Feb 2019 12:15 am
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  • CLN6CLN6 disease, variant late-infantile onset
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Rachel Phythian approved a suggestion from Golden's AI on 18 Feb 2019 12:11 am
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  • CLN8 disease, with EpilepsyEpilepsy with Progressive Mental Retardation
Rachel Phythian
Rachel Phythian edited on 17 Feb 2019 7:07 pm
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Rachel Phythian edited on 17 Feb 2019 6:47 pm
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Topic thumbnail

Batten disease

A group of rare, fatal, inherited disorders that affect the nervous system and typically start induring childhood

Article

Batten disease is the common name for a class of inherited, neurogenerative disorders that affect the ability of cells to break down waste. This leads to a build-up of material, preventing the cells from working properly and causing progressive neurological impairment. Batten disease (also known as Neuronal Ceroid Lipofuscinosis (NCLs)) typically begins during childhood and results in significantly shortened life expectancy.



Forms of Batten disease

  • CLN1 disease, infantile onset
  • CLN1 disease, juvenile onset
  • CLN2 disease, late-infantile onset
  • CLN2 disease, juvenile onset
  • CLN2 disease, later onset
  • CLN3 disease, juvenile onset
  • CLN4 disease, adult onset
  • CLN5 disease, variant late-infantile onset
  • CLN6 disease, variant late-infantile onset
  • CLN6 disease, adult onset
  • CLN7 disease, variant late-infantile onset
  • CLN8 disease, with Epilepsy with Progressive Mental Retardation
  • CLN8 disease, late-variant onset
  • CLN10 disease

Further reading

Title
Author
Link
Type

Batten Disease Fact Sheet | National Institute of Neurological Disorders and Stroke



Web

What Is Batten Disease - Batten Disease Support & Research Association



Web

Rachel Phythian
Rachel Phythian edited on 17 Feb 2019 5:55 pm
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Batten disease

A group of rare, fatal, inherited disorders that affect the nervous system and typically start in childhood

Rachel Phythian"Description "
Rachel Phythian edited on 17 Feb 2019 5:54 pm
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Batten disease

Human disease

A group of rare, fatal, inherited disorders that affect the nervous system and typically start in childhood

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