FLOREY IMAGING DETECTS HUNTINGTON’S EARLY
June 18th 2008 01:26
Monday June 16, 2008
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HOWARD FLOREY INSTITUTE
The Howard Florey Institute says diffusion magnetic resonance imaging can confirm Huntington’s disease before symptoms appear.
A media release from the Institute said early confirmation of Huntington’s disease in people who are gene positive for the disease could enable treatment to commence early, even before motor, cognitive and psychiatric symptoms arose.
The Institute said diffusion magnetic resonance imaging by the Howard Florey Institute and Melbourne’s Monash University had identified extensive white matter degeneration in patients recently diagnosed with Huntington’s disease.
The research will be presented to the Organisation for Human Brain Mapping meeting in Melbourne tomorrow.
White matter forms the connections between brain regions, allowing one region to communicate with another, the Institute said.
A breakdown of these structural connections in the brain could help to explain the complex motor and cognitive problems experienced by Huntington’s disease patients in the early stages of the disease.
The Institute said white matter degeneration started before patients were diagnosed but the extent of white matter degeneration in Huntington’s disease was previously unknown.
The early symptoms of Huntington’s disease can be missed, as they are usually minor problems such as clumsiness, memory loss and loss of cognitive function.
The symptoms become more severe, leading to death within 15 to 20 years of diagnosis.
Howard Florey Institute student India Bohanna said the discovery could assist in the testing of therapeutic strategies to treat the disease.
“The effectiveness of any new treatment is determined by its ability to reduce symptoms, but we know that changes in the brain occur a long time before symptoms arise,” Ms Bohanna said.
“Our discovery could allow researchers to test therapies even before symptoms appear,” she said.
“Not only does this research tell us more about how the brain degenerates early in Huntington’s disease, but it also opens up new avenues in drug research and development,” Ms Bohanna said.
Co-principal investigator, Monash University’s Prof Nellie Georgiou-Karistianis said that by using diffusion magnetic resonance imaging to examine white matter degeneration early, it would be possible to test the ability of therapeutics to reverse degeneration in brain connections.
“Although there isn’t yet a cure for Huntington’s, researchers … are working to develop new treatments to delay the onset and severity of this devastating disease,” Prof Georgiou-Karistianis said.
The Howard Florey Institute said mental and physical exercise could delay the onset of the disease and slow the progression of symptoms in a mouse model of the disease.
The Institute said this was the first study to look at white matter changes across the whole brain in Huntington’s disease and to study how the breakdown of connections between brain regions might lead to the widespread deficits found in Huntington’s disease patients.
The researchers hope to conduct further studies to examine white matter degeneration in people who have tested gene positive to Huntington’s disease but are up to 10 years away from developing symptoms.
Huntington's disease is caused by a mutation in a single gene and is inherited by 50 percent of the offspring of patients. It usually appears around middle age but can start in childhood and affects seven people per 100,000 of the population.
The Institute said diffusion magnetic resonance imaging enabled examination of the brain at a micro-structural level and the mapping of white matter tracts by tracking the movement of water in the brain.
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