Study finds autoimmune link in juvenile Batt...( For years researchers have tried to de...)

For years, researchers have tried to determine how the defective gene in juvenile Batten disease leads to the seizures, mental impairment, and other symptoms of this devastating childhood disorder. A new study shows that mice lacking the gene that is altered, or mutated, in this disorder have an immune reaction that disables an important enzyme in the brain. The study also found signs of this reaction in children with Batten disease. The finding provides a new clue about how Batten disease may damage the nervous system and could lead to treatments for the disorder.

The study is the first to find evidence that the immune system plays a role in Batten disease. The immune attack inactivates an enzyme called glutamic acid decarboxylase 65 (GAD65) that normally converts one neurotransmitter called glutamate into another, called gamma-aminobutyric acid or GABA. The loss of the enzyme's activity leads to an excess of glutamate in the brain.

"The bottom line is that these children have an autoimmune response to a protein (GAD65) that is important for neurological function," says David A. Pearce, Ph.D., of the University of Rochester School of Medicine and Dentistry in New York, who led the study. The study was funded in part by the National Institute of Neurological Disorders and Stroke (NINDS) and appears in the June 1, 2002, issue of Human Molecular Genetics.*

Juvenile Batten disease is a fatal, inherited childhood neurodegenerative disorder that results from mutations in a gene called CLN3. Symptoms of this disorder usually appear between the ages of 5 and 10 and may include vision problems, seizures, personality and behavior changes, slow learning, or clumsiness. Over time, affected children suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills. The disease is usually fatal by the late teens or twenties. Juvenile Batten disease is the most common of a group of disorders called neuronal ceroid lipof
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Contact: Natalie Frazin
301-496-5751
NIH/National Institute of Neurological Disorders and Stroke
22-May-2002

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