"Now that we know the protein exists in humans, we can study how it normally works and look for its potential role in more common neurological disorders," says Dr. Lobel, of UMDNJ-Robert Wood Johnson Medical School. "It?s a string, and we can start to pull on it."

"This discovery of a novel protease is exciting. It's the kind of basic science finding that can lead to treatment for devastating genetic disorders like Batten disease," said Catherine McKeon, Ph.D., of the National Institute of Diabetes and Digestive and Kidney Diseases.

Late infantile Batten disease, also called Jansky-Bielchowsky disease or late infantile neuronal ceroid lipofuscinosis (LINCL), is one of four closely related metabolic disorders that lead to neurodegeneration. The four diseases are often collectively called Batten disease, although their technical name is neuronal ceroid lipofuscinoses (NCLs). The other major childhood forms include infantile NCL (also called Santavuori-Haltia disease) and juvenile NCL (Batten disease or Spielmeyer-Vogt-Sjogren disease). Genes for both of these disorders were identified in 1995. An unusual adult form of NCL (Kufs disease) also has been described.

Late infantile Batten disease affects about 300 children and accounts for about 40 percent of the NCL seen in the United States. Children with late infantile Batten disease appear normal until age two or three. Symptoms, which worsen over time, may include mental retardation, seizures, impaired coordination, dementia, and loss of speech and vision. There is no treatment that can alter the course of the disease, and most affected children die by age fifteen.

To be affected with any form of NCL, a child must receive two defective copies of the gene, one from each parent. People with only one defective copy of the gene do not develop the diseas
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Contact: Natalie Larsen, NINDS or Jane DeMouy, NIDDK
nl6x@nih.gov
3014965751or4358115
NIH/National Institute of Neurological Disorders and Stroke
19-Sep-1997