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 Newly discovered 'multicomponent' virus can infect animals
26.08.2016 | US Army Medical Research Institute of Infectious Diseases

nachricht Symmetry crucial for building key biomaterial collagen in the lab
26.08.2016 | University of Wisconsin-Madison

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: Streamlining accelerated computing for industry

PyFR code combines high accuracy with flexibility to resolve unsteady turbulence problems

Scientists and engineers striving to create the next machine-age marvel--whether it be a more aerodynamic rocket, a faster race car, or a higher-efficiency jet...

Im Focus: X-ray optics on a chip

Waveguides are widely used for filtering, confining, guiding, coupling or splitting beams of visible light. However, creating waveguides that could do the same for X-rays has posed tremendous challenges in fabrication, so they are still only in an early stage of development.

In the latest issue of Acta Crystallographica Section A: Foundations and Advances , Sarah Hoffmann-Urlaub and Tim Salditt report the fabrication and testing of...

Im Focus: Piggyback battery for microchips: TU Graz researchers develop new battery concept

Electrochemists at TU Graz have managed to use monocrystalline semiconductor silicon as an active storage electrode in lithium batteries. This enables an integrated power supply to be made for microchips with a rechargeable battery.

Small electrical gadgets, such as mobile phones, tablets or notebooks, are indispensable accompaniments of everyday life. Integrated circuits in the interiors...

Im Focus: UCI physicists confirm possible discovery of fifth force of nature

Light particle could be key to understanding dark matter in universe

Recent findings indicating the possible discovery of a previously unknown subatomic particle may be evidence of a fifth fundamental force of nature, according...

Im Focus: Wi-fi from lasers

White light from lasers demonstrates data speeds of up to 2 GB/s

A nanocrystalline material that rapidly makes white light out of blue light has been developed by KAUST researchers.

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

The energy transition is not possible without Geotechnics

25.08.2016 | Event News

New Ideas for the Shipping Industry

24.08.2016 | Event News

A week of excellence: 22 of the world’s best computer scientists and mathematicians in Heidelberg

12.08.2016 | Event News

 
Latest News

Symmetry crucial for building key biomaterial collagen in the lab

26.08.2016 | Health and Medicine

Volcanic eruption masked acceleration in sea level rise

26.08.2016 | Earth Sciences

Moth takes advantage of defensive compounds in Physalis fruits

26.08.2016 | Life Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>