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NEI Statement

Hallervorden-Spatz Syndrome Gene Discovery

National Eye Institute
National Institutes of Health

The gene that causes Hallervorden-Spatz syndrome has been identified by National Eye Institute (NEI) grantees. Hallervorden-Spatz syndrome is a rare, inherited, neurological disorder associated with high accumulations of iron in the brain, and causes progressive degeneration of the retina and nervous system. The new findings appear in the August 2001 issue of Nature Genetics.

Susan J. Hayflick, MD, associate professor of Molecular and Medical Genetics at Oregon Health Sciences University in Portland, and colleagues discovered that the defective gene produces an ineffective enzyme. The body needs the normal enzyme to utilize vitamin B5; without it, vitamin B5 cannot produce some of the body's essential compounds. The ineffective enzyme results in Hallervorden-Spatz syndrome. Because of this research, scientists can now focus their efforts on developing treatment strategies that bypass this defective enzyme, allowing the body to utilize vitamin B5 to help make the essential body compounds. Researchers can also look toward developing a genetic diagnostic test for the syndrome.

Understanding the biochemical defects in Hallervorden-Spatz syndrome may also provide insights into the effect iron has on other neurodegenerative diseases associated with high iron accumulations, such as Parkinson's disease.

"This research begins to offer some hope for patients and the families of those who have Hallervorden-Spatz syndrome," said Paul A. Sieving, MD., Ph.D, director of the NEI. "Scientists have provided important new insight into the underlying causes of this particularly devastating form of neurodegeneration."

Symptoms of Hallervorden-Spatz syndrome can vary widely and include involuntary, jerky muscle movements; uncontrolled tightness of the muscles; and sudden, involuntary muscle spasms (spasticity). A number of patients develop degeneration of the retina. Hallervorden-Spatz symptoms usually develop during childhood; in about 80 percent of cases, the disease occurs between the ages of two and 15 years. Death usually occurs in early adulthood, approximately 10 years after onset. Currently there is no effective treatment.

July 2001