Navigation Links
'Unknown' neurological disorder often incorrectly diagnosed
Date:4/10/2013

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.


'/>"/>

Contact: Christina Sundal
Christina.sundal@vgregion.se
46-727-167-797
University of Gothenburg
Source:Eurekalert

Related medicine news :

1. Internet Search History May Reveal Unknown Drug Side Effects
2. Neurological Wellness Center Physicians Group Asks CBS to Air the 60-Minute Show “A New Shot at Life” in the United States
3. Experts call for research on prevalence of delayed neurological dysfunction after head injury
4. Brain mapping reveals neurological basis of decision-making in rats
5. Neurological Wellness Center Criticizes the U.S. Patent Office for Issuing a Patent for an Injection Site on the Human Body
6. Subcortical damage is primary cause of neurological deficits after awake craniotomy
7. New technology may help doctors monitor concussions, aging, and neurological function
8. NIH clinical trial begins for treatment of rare, fatal neurological disorder
9. Neurological Wellness Center Posts 700% Sales Increase in 2012; Enters Strategic Alliance with Enbrel Buyer's Club to Provide Low Cost Enbrel
10. Neurological Wellness Center Pays Tribute to Newly Released Study Announcing TBI Treatment Breakthrough
11. Neurological Wellness Center's Novel Neuro-Inflammation Inhibition Procedure that Induces Rapid Recovery from Alzheimer's, Stroke and Brain Injury is Now Being Taught in a Newly Released Video
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/24/2017)... (PRWEB) , ... May 24, 2017 , ... Patients who ... Cortland, OH, can now meet with Dr. Joseph Bedich for a consultation, with or ... simultaneously improving their oral health and functionality. , Dr. Bedich offers a ...
(Date:5/24/2017)... , ... May 24, 2017 , ... Myers Jackson is ... has the ability to sell luxury homes anywhere on the planet. The luxury home ... side from Hattiesburg to Houston city-scapes. A quick search of “11 Spyglass Hill Auction ...
(Date:5/24/2017)... Lake Orion, Michigan (PRWEB) , ... ... ... is a disease affecting the female reproductive tract in which the endometrial ... the pelvic structures causing inflammation and pain. Patients experiencing painful intercourse, painful ...
(Date:5/24/2017)... ... May 24, 2017 , ... Accordant Technology, a trusted ... ExtraHop delivers an analytics-first approach, layered with machine learning, that provides real-time visibility ... to the cloud to the edge. Through the new partnership, customers get the ...
(Date:5/24/2017)... Park, NY (PRWEB) , ... May 24, 2017 ... ... announced the practice is offering holistic pediatric dentistry options for its patients on ... context of the patient’s entire physical well being, and is one of the ...
Breaking Medicine News(10 mins):
(Date:5/15/2017)... May 15, 2017 Enterin Inc., a privately-held CNS ... developing novel compounds to treat Parkinson,s disease (PD), has enrolled ... a Phase 1/2a randomized, controlled, multicenter study involving patients with ... enroll 50 patients over a 9-to-12-month period. The first stage ... patients with PD. Participating sites include Denver ...
(Date:5/11/2017)... TORONTO , May 11, 2017  Thornhill ... ) has been awarded an $8,049,024 USD five-year, ... Defense through the Canadian Commercial Corporation (CCC) ( ... Field Anesthesia Systems to administer general anesthesia to ... environment.  "The US Marine Corps have ...
(Date:5/10/2017)... , May 10, 2017 Global Health Intelligence ... Latin America , published its 2017 ranking of ... is based on extensive data analysis from GHI,s hospitals ... hospitals database for the region. The GHI database covers 86% ... offering more than 130 data points for each institution in ...
Breaking Medicine Technology: