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 Thursday, 2 January, 2003, 01:12 GMT
Gene test for rare brain disease
One form of the disease surfaces in later life
Scientists have developed a new test for a rare brain disorder similar to Parkinson's Disease.

They have found that all patients have a distinctive pattern of brain changes which can be detected by scanning.

We are now working to figure out why these defects lead to cell death and iron accumulation in this very specific area of the brain

Prof Jane Gitschier
The genetic disease, known as Hallervorden-Spatz Syndrome (HSS), affects the basal ganglia.

A number of neurological disorders, including Parkinson's, Huntingdon's disease and Tourette's syndrome, are also believed to arise from problems in this part of the brain.

Researchers hope the test could lead to a better understanding of what goes wrong as well as improved diagnosis of the rare condition.

Slow progression

HSS is an inherited, neurological movement disorder marked by a progressive decline of the nervous system.

Symptoms include jerky muscle movements and muscle spasms leading to a loss of muscle control. Patients may eventually lose the ability to speak or chew food.

There appear to be two forms of HSS which surface in early or later life.

The common feature among HSS sufferers is iron accumulation in the brain.

The gene implicated in the disorder was found in 2001 and now the same team of scientists has discovered the test.

The distinctive brain pattern is revealed by magnetic resonance imaging of the basal ganglia.

It was discovered during research into 123 patients with both early- and late-onset forms of the disease.

"Eye of the tiger"

The researchers, at Oregon Health & Science University and the University of California, San Francisco (UCSF), call it the "eye of the tiger sign".

The changes are thought to be caused by an enzyme deficiency in the pantothenate kinase (PANK2) gene.

About half of people with HSS have mutations in this gene, which helps to breakdown vitamin B5.

"Defining defects in PANK2 has led to the discovery of an unsuspected biochemical pathway in neurodegenerative diseases," says Professor Jane Gitschier of UCSF.

"We are now working to figure out why these defects lead to cell death and iron accumulation in this very specific area of the brain."

One possibility is that unknown enzymes in the biochemical pathway could cause other neurodegenerative disorders.

If this is the case, investigation of HSS could give clues as to how to diagnose and perhaps treat such diseases.

The US research is published in the New England Journal of Medicine.

See also:

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