Lipofuscinoses; Batten disease; Jansky-Bielschowsky; Kufs’ disease; Spielmeyer-Vogt
Definition of Neuronal ceroid lipofuscinoses (NCLS)
Neuronal ceroid lipofuscinoses (NCLS) refers to a group of rare, inherited disorders of the nerve cells.
Causes, incidence, and 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.
Signs and tests
The disorder may be seen at birth, but it is usually diagnosed much later.
Treatment depends on the type and extent of symptoms. You may need lifelong assistance and care.
The younger the person is when the disease appears, the greater the risk for disability and early death. Those who develop the disease early can have vision problems that progress to blindness, and problems with mental function that get worse. If the disease emerges in the first year of life, death by age 10 is likely.
Luc Jasmin, MD, PhD, Departments of Anatomy and Neurological Surgery, University of California, San Francisco, CA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc. – 10/14/2009