(Neuronal Ceroid Lipofuscinosis)
- Infantile NCL
- Late infantile NCL
- Juvenile NCL
- Adult NCL
- Children of parents with Batten disease
- Children of parents not afflicted with Batten disease, but who carry the abnormal genes that cause the disease
- Vision loss (an early sign) and blindness
- Muscle incoordination
- Intellectual disability or decreasing mental function
- Emotional disturbances or difficulties
- Muscle spasms
- Deterioration of muscle tone
- Movement problems
Testing to look for evidence of build-up of lipopigments:
- Blood tests
- Urine tests
- Tissue biopsies (skin and rectal) examined with an electron microscope
Skin Biopsy Copyright © Nucleus Medical Media, Inc.
Imaging tests to look for specific brain abnormalities:
- MRI scan —a test that uses magnetic waves to make pictures of the inside of the body
- CT scan —a type of x-ray that uses a computer to make pictures of the inside of the body
- Electroencephalogram (EEG) —a test that records the brain's activity by measuring electrical currents through the brain
MRI Scan Copyright © Nucleus Medical Media, Inc.
- Electrical studies of the eyes—to look for vision problems associated with the disease
- DNA analysis—to look for the abnormalities that may cause this disease
National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/
Office of Rare Diseases http://rarediseases.info.nih.gov/
Batten Disease Support and Research Association http://www.bdsra.org/
Sick Kids http://www.sickkids.ca/
Battem disease. Office of Scientific and Health Reports. National Institute of Neurological Disorders and Stroke National Institutes of Health website. June 1992. Available at: http://www.medhelp.org/lib/batten.htm . Accessed August 2003.
Batten’s disease: clues to neuronal protein catabolism in lysosomes. J Neurosci Res . Apr 15, 2000.
Batten’s disease: eight genes and still counting. The Lancet . Aug 7, 1999.
Batten Disease Support and Research Association website. Available at: http://www.bdsra.org .
National Library of Medicine website. Available at: http://www.nlm.nih.gov/ .
Sondhi D, et al. Feasibility of gene therapy for late neuronal ceroid lipofuscinosis. Arch Neurol . Nov 2001;58(11):1793-8.
Taupin P. HuCNS-SC (StemCells). Curr Opin Mol Ther . Apr 2006;8(2):156-63.
- Reviewer: Kari Kassir, MD
- Review Date: 11/2012 -
- Update Date: 11/26/2012 -