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:6/26/2016)... Aliso Viejo, California (PRWEB) , ... June 26, 2016 , ... ... for Final Cut Pro X. , "Film editors can give their videos a whole ... artistically," said Christina Austin - CEO of Pixel Film Studios. , ProSlice Levels ...
(Date:6/26/2016)... ... ... Kasmer, a legally blind and certified personal trainer is helping to develop a weight loss ... plans to fix the two major problems leading the fitness industry today:, ... , They don’t eliminate all the reasons people quit their exercise program ...
(Date:6/25/2016)... Washington, D.C. (PRWEB) , ... June 25, 2016 ... ... will discuss health policy issues and applications at AcademyHealth’s Annual Research Meeting June ... share their work on several important health care topics including advance care planning, ...
(Date:6/25/2016)... ... , ... The temporary closing of Bruton Memorial Library on June 21 due to a possible ... often overlooked aspect of head lice: the parasite’s ability to live away from a human ... but a necessary one in the event that lice have simply gotten out of control. ...
(Date:6/25/2016)... ... June 25, 2016 , ... First Choice Emergency Room , the largest ... as the Medical Director of its new Mesquite-Samuell Farm facility. , “We are ... Mesquite location,” said Dr. James M. Muzzarelli, Executive Medical Director of First Choice Emergency ...
Breaking Medicine News(10 mins):
(Date:6/23/2016)... , June 23, 2016 Research ... "Pharmaceutical Excipients Market by Type (Organic Chemical (Sugar, Petrochemical, ... (Oral, Topical, Coating, Parenteral) - Global Forecast to 2021" ... The global pharmaceutical excipients market is ... a CAGR of 6.1% in the forecast period 2016 ...
(Date:6/23/2016)... , June 23, 2016 ... CAPR ), a biotechnology company focused on the ... announced that patient enrollment in its ongoing randomized ... has exceeded 50% of its 24-patient target. Capricor ... the third quarter of 2016, and to report ...
(Date:6/23/2016)... INDIANAPOLIS , June 23, 2016 ... Tomorrow,s Leaders Scholarship is any indication, the future is ... online at www.diabetesscholars.org by the Diabetes Scholars ... in the way of academic and community service excellence. ... program since 2012, and continues to advocate for people ...
Breaking Medicine Technology: