Neuronal ceroid lipofuscinoses (NCLS)
Alternate Names : Lipofuscinoses, Batten disease, Jansky-Bielschowsky, Kufs' disease, Spielmeyer-Vogt
Definition
Neuronal ceroid lipofuscinoses (NCLS) refers to a group of rare, inherited disorders of the nerve cells. There are three main types of NCLS: - Adult (Kufs' or Parry's disease)
- Juvenile (Batten disease)
- Late infantile (Jansky-Bielschowsky)
Overview, Causes, & Risk Factors
NCLS is a type of neurodegenerative disorder. It involves the buildup of an abnormal material called lipofuscin in the brain. Evidence suggests that NCLS is caused by problems with the brain's ability to remove and recycle proteins. Lipofuscinoses are inherited as autosomal recessive traits. That means if both parents carry the trait, each child has:
- A 1 in 4 chance of having the disease
- A 2 in 4 chance of not having the disease but carrying the trait
- A 1 in 4 chance of not having the disease and not being a carrier
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