Batten disease

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

Batten disease (also known as Neuronal Ceroid Lipofuscinosis (NCL)) is a common name for a class of inherited, neurodegenerative 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. Though there are several forms of NCL, most begin during childhood and they typically result in significantly shortened life expectancy.

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 NCL

  • 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

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

Timeline

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Further reading

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

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Neuronal ceroid lipofuscinosis - Conditions - GTR - NCBI

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

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What Is Batten Disease - Batten Disease Support & Research Association

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References

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