Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

"Unknown" neurological disorder often incorrectly diagnosed

10.04.2013
The very serious hereditary disease HDLS was discovered in 1984 in Sweden. Many HDLS patients are still incorrectly diagnosed with Alzheimer’s disease, MS or Parkinson’s disease, but researchers at the Sahlgrenska Academy, University of Gothenburg, Sweden, have now developed a more certain diagnosis method - and are seeking to find a treatment for the "unknown" neurological disorder.
In 1984, Sahlgrenska Professor Oluf Andersen for the first time described a new, hereditary and very serious neurological disease that was given the name hereditary diffuse leukoencephalopathy with spheroids, usually abbreviated HDLS.

The disease has been perceived as very uncommon. However, a HDLS international consortium with headquarter at the Mayo Clinic in collaboration with the researcher Christina Sundal at the Sahlgrenska Academy, University of Gothenburg, and her research colleagues have now succeeded in identifying the genetic mutation, called CSF1R, that is believed to cause the disease.

The discovery, which is presented in a dissertation at the Sahlgrenska Academy, , University of Gothenburg, has resulted in a new gene test that has led to more than 100 new cases of HDLS being confirmed in the U.S. and Japan in recent months.

In Sweden, HDLS has to-date been limited to one single family, which currently consists of 166 individuals of which 15 have been diagnosed with HDLS. There are many unreported cases, and since the Swedish family was found negative for the CSF1R gene mutation Dr. Christina Sundal and her research team are still doing genetic testing to find additional gene mutation that are causative for the Swedish family. Results of this analysis will soon be published.

Since knowledge of the disease is limited among doctors, patients with HDLS are often incorrectly diagnosed with Alzheimer’s disease, MS or atypical Parkinson’s disease, and a study is now under way where 100 Swedish MS patients are undergoing genetic analysis to see if their disease is actually HDLS.

The basic Swedish research has been followed up internationally - most successfully by researchers at the Mayo Clinic in Florida, who have now gathered information and samples from HDLS families around the world. In 2011, Christina Sundal, a doctoral student at the Institute of Neuroscience and Physiology at the Sahlgrenska Academy, University of Gothenburg, was invited to the Mayo Clinic to conduct research on HDLS.

Christina Sundal is now presenting her dissertation, which shows that the symptoms and characteristic changes of HDLS can be distinguished on magnetic resonance images of the brain. Together with the discovery of the CSF1R gene mutation, this has revolutionized the possibilities of making the right diagnosis and developing future treatments.

"Our research has shown that HDLS is often incorrectly diagnosed. We hope that the disease will now be easier to identify, and that it will eventually be possible to use the CSF1R gene mutation to develop new medicines that can treat both HDLS and other similar neurodegenerative diseases," says Christina Sundal.

The 36-year-old researcher, raised in Bergen, Norway, is now being given the responsibility to lead the continued HDLS research at the Sahlgrenska Academy, University of Gothenburg and Sahlgrenska University Hospital.

"I hope that our research will lead us to find a treatment in the future that can stop this disease, which is very devastating and strikes many families hard," says Christina Sundal.

FACTS ABOUT HDLS
Those afflicted by HDLS generally have one parent who had the same disease: the risk of being afflicted if one has a parent with HDLS is a full 50 percent. Most patients were completely healthy until the age of 40 when they are struck by various neurological and psychiatric symptoms. In most cases, there is a rapid degradation where patients after just a few years exhibit dementia, major motor difficulty and death. Today, there is no effective medication for the disease.

Contact:
Christina Sundal, Doctoral Candidate at the Institution for Neuroscience and Physiology, the Sahlgrenska Academy, University of Gothenburg.
+46-727-167797
Christina.sundal@vgregion.se

Annika Koldenius | idw
Further information:
http://www.gu.se

More articles from Health and Medicine:

nachricht Real-time imaging of lung lesions during surgery helps localize tumors and improve precision
30.07.2015 | American Association for Thoracic Surgery

nachricht Experimental MERS vaccine shows promise in animal studies
29.07.2015 | NIH/National Institute of Allergy and Infectious Diseases

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Quantum Matter Stuck in Unrest

Using ultracold atoms trapped in light crystals, scientists from the MPQ, LMU, and the Weizmann Institute observe a novel state of matter that never thermalizes.

What happens if one mixes cold and hot water? After some initial dynamics, one is left with lukewarm water—the system has thermalized to a new thermal...

Im Focus: On the crest of the wave: Electronics on a time scale shorter than a cycle of light

Physicists from Regensburg and Marburg, Germany have succeeded in taking a slow-motion movie of speeding electrons in a solid driven by a strong light wave. In the process, they have unraveled a novel quantum phenomenon, which will be reported in the forthcoming edition of Nature.

The advent of ever faster electronics featuring clock rates up to the multiple-gigahertz range has revolutionized our day-to-day life. Researchers and...

Im Focus: Superfast fluorescence sets new speed record

Plasmonic device has speed and efficiency to serve optical computers

Researchers have developed an ultrafast light-emitting device that can flip on and off 90 billion times a second and could form the basis of optical computing.

Im Focus: Unlocking the rice immune system

Joint BioEnergy Institute study identifies bacterial protein that is key to protecting rice against bacterial blight

A bacterial signal that when recognized by rice plants enables the plants to resist a devastating blight disease has been identified by a multi-national team...

Im Focus: Smarter window materials can control light and energy

Researchers in the Cockrell School of Engineering at The University of Texas at Austin are one step closer to delivering smart windows with a new level of energy efficiency, engineering materials that allow windows to reveal light without transferring heat and, conversely, to block light while allowing heat transmission, as described in two new research papers.

By allowing indoor occupants to more precisely control the energy and sunlight passing through a window, the new materials could significantly reduce costs for...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

3rd Euro Bio-inspired - International Conference and Exhibition on Bio-inspired Materials

23.07.2015 | Event News

Clash of Realities – International Conference on the Art, Technology and Theory of Digital Games

10.07.2015 | Event News

World Conference on Regenerative Medicine in Leipzig: Last chance to submit abstracts until 2 July

25.06.2015 | Event News

 
Latest News

Tool making and additive technology exhibition: Fraunhofer IPT at Formnext

31.07.2015 | Trade Fair News

First Siemens-built Thameslink train arrives in London

31.07.2015 | Transportation and Logistics

California 'rain debt' equal to average full year of precipitation

31.07.2015 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>