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:2/13/2016)... ... ... DDi , a Makro company, makes it to ... in eClinical Solutions. DDi has built its solution competency with a unique blend ... DDi provides smarter technology for Clinical Development, Regulatory and Enterprise domains by providing ...
(Date:2/12/2016)... ... February 12, 2016 , ... The Lymphoma ... innovative lymphoma research and serving the lymphoma community through a comprehensive series of ... South Florida’s philanthropic community at its 10th anniversary Fashion Luncheon on Monday, February ...
(Date:2/12/2016)... ... February 12, 2016 , ... Coco Libre, the maker of ... Carpet Events LA GRAMMY’s Style Lounge Event. Coco Libre will offer musicians and celebrities ... before the big event. The invitation-only gifting suite, held this year at the W ...
(Date:2/12/2016)... ... February 12, 2016 , ... Fisher House Foundation Chairman and ... J. Lee, Nevada Military Support Alliance president Scott Bensing, and Peggy Kearns Director, VA ... Southern Nevada Healthcare System. This will be the first Fisher House in Nevada, ...
(Date:2/12/2016)... Pittsburgh, PA (PRWEB) , ... February 12, 2016 ... ... serving families of the Pittsburgh metro area, celebrates the beginning of the latest ... help children develop social skills through art. Donations to this worthy cause are ...
Breaking Medicine News(10 mins):
(Date:2/12/2016)... February 12, 2016 ... auf den ungedeckten medizinischen Bedarf bei Lungen- ... seines klinischen Forschungsprogramms bekannt. Das Programm, das ... Verbesserungen ihrer respiratorischen Funktionen und anderer klinischer ... ein Medizintechnikunternehmen, das sich auf den ungedeckten ...
(Date:2/11/2016)... Feb. 11, 2016 PRO-DEX, INC. (NasdaqCM: PDEX) today ... December 31, 2015. The Company also filed its Quarterly Report ... 2016 with the Securities and Exchange Commission today. ... 2015 --> --> Net ... $2.6 million, or 95%, to $5.4 million from $2.8 million ...
(Date:2/11/2016)... 2016   Health 2.0 , the premiere showcase ... announced today " 10 Year Global Retrospective ", a ... the past ten years.   --> ... 2.0 has served as the preeminent thought-leader in the ... of technologies, companies, innovators, and patient-activists through an array ...
Breaking Medicine Technology: