Featured Research

from universities, journals, and other organizations

'Unknown' neurological disorder often incorrectly diagnosed

Date:
April 10, 2013
Source:
University of Gothenburg
Summary:
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 have now developed a more certain diagnosis method - and are seeking to find a treatment for the "unknown" neurological disorder.

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.


Story Source:

The above story is based on materials provided by University of Gothenburg. Note: Materials may be edited for content and length.


Cite This Page:

University of Gothenburg. "'Unknown' neurological disorder often incorrectly diagnosed." ScienceDaily. ScienceDaily, 10 April 2013. <www.sciencedaily.com/releases/2013/04/130410082415.htm>.
University of Gothenburg. (2013, April 10). 'Unknown' neurological disorder often incorrectly diagnosed. ScienceDaily. Retrieved April 18, 2014 from www.sciencedaily.com/releases/2013/04/130410082415.htm
University of Gothenburg. "'Unknown' neurological disorder often incorrectly diagnosed." ScienceDaily. www.sciencedaily.com/releases/2013/04/130410082415.htm (accessed April 18, 2014).

Share This



More Health & Medicine News

Friday, April 18, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Scientists Create Stem Cells From Adult Skin Cells

Scientists Create Stem Cells From Adult Skin Cells

Newsy (Apr. 17, 2014) The breakthrough could mean a cure for some serious diseases and even the possibility of human cloning, but it's all still a way off. Video provided by Newsy
Powered by NewsLook.com
Obama: 8 Million Healthcare Signups

Obama: 8 Million Healthcare Signups

AP (Apr. 17, 2014) President Barack Obama gave a briefing Thursday announcing 8 million people have signed up under the Affordable Care Act. He blasted continued Republican efforts to repeal the law. (April 17) Video provided by AP
Powered by NewsLook.com
Is Apathy A Sign Of A Shrinking Brain?

Is Apathy A Sign Of A Shrinking Brain?

Newsy (Apr. 17, 2014) A recent study links apathetic feelings to a smaller brain. Researchers say the results indicate a need for apathy screening for at-risk seniors. Video provided by Newsy
Powered by NewsLook.com
Could Even Casual Marijuana Use Alter Your Brain?

Could Even Casual Marijuana Use Alter Your Brain?

Newsy (Apr. 16, 2014) A new study conducted by researchers at Northwestern and Harvard suggests even casual marijuana use can alter your brain. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins