Thursday, 2 January, 2003, 01:12 GMT
Gene test for rare brain disease

 HYPERLINK
"http://newsimg.bbc.co.uk/media/images/38642000/jpg/_38642213_parkinsons
300.jpg"
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.




 HYPERLINK "http://news.bbc.co.uk/furniture/new_quote_left.gif"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
 HYPERLINK "http://news.bbc.co.uk/furniture/new_quote_right.gif"

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.



---
Outgoing mail is certified Virus Free.
Checked by AVG anti-virus system (http://www.grisoft.com).
Version: 6.0.434 / Virus Database: 243 - Release Date: 12/25/2002



----------------------------------------------------------------------
To sign-off Parkinsn send a message to: mailto:[log in to unmask]
In the body of the message put: signoff parkinsn