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OHSU Researchers Discover Key Gene Behind Hallervorden-Spatz Syndrome

   Portland, Ore.

Finding may also assist in developing greater understanding of Parkinson's disease, Alzheimer's disease and Huntington's disease

Researchers at Oregon Health & Science University together with collaborators at the University of California at San Francisco have located the key gene responsible for Hallervorden-Spatz syndrome (HSS). The gene, called PANK2, was found on human chromosome number 20. The disease can cause a loss of muscle control and the ability to speak. Scientists hope the discovery will result in the future development of therapies that can slow or stop progression of HSS. In addition, it is hoped that this finding will improve diagnosis early in life or in expectant mothers from families with a genetic history of the disease. Susan Hayflick, M.D., associate professor of molecular and medical genetics in OHSU's School of Medicine directed the research. The conclusions are printed in the August 2001 edition of the journal Nature Genetics.

"Nine years ago, when we first began our investigations, we had very little understanding behind the cause of HSS," said Hayflick, who is senior author of the paper. "Today we have made a tremendous leap towards developing therapies to slow or stop the disease, or perhaps even cure it. Additionally, while HSS is considered quite rare, it is a part of a family of neurodegenerative diseases. We're hoping that this research will also provide new hope for patients with related disorders such as Parkinson's disease."

HSS is a rare but well-known genetic disorder characterized by the accumulation of iron deposits in the brain. Specifically, these deposits surface in the basal ganglia, a region that controls body movement. This results in a gradual loss of muscle control. Patients with HSS can also experience night blindness and witness the gradual loss of the ability to speak and chew food. Degeneration caused by the disease is progressive and can shorten lifespan. HSS is an autosomal recessive disorder, meaning both parents must contribute a defective PANK2 gene for the disease to surface in their offspring. When two parents both carry PANK2 mutations, there is a 25 percent chance of occurrence for the disease during each pregnancy.

For patients and families dealing with the debilitating effects of HSS, the discovery is considered a major step.

"This is the first ray of hope these families have been given," explains Patty Wood, president and founder of the Hallervorden-Spatz Syndrome Association. Her 15-year-old daughter Kimberly was diagnosed with HSS when she was three and has gradually lost the ability to speak and eat. "There's a lot of pain associated with this disease. For many of us, this news has made a world of difference."

In addition to locating the key gene behind HSS, researchers have suggested changing its name to pantothenate kinase associated neurodegeneration (PKAN).

The research was funded by the National Eye Institute (NEI), a component of the National Institutes of Health, due to the fact that the disease is often linked to vision loss. Many HSS patients develop retinitis pigmentosa, a condition that can lead to night blindness, the loss of peripheral vision and even blindness.

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

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