Navigation Links
UCSF-led team discovers cause of rare disease
Date:12/16/2011

A large, international team of researchers led by scientists at the University of California, San Francisco has identified the gene that causes a rare childhood neurological disorder called PKD/IC, or "paroxysmal kinesigenic dyskinesia with infantile convulsions," a cause of epilepsy in babies and movement disorders in older children.

The study involved clinics in cities as far flung as Tokyo, New York, London and Istanbul and may improve the ability of doctors to diagnose PKD/IC, and it may shed light on other movement disorders, like Parkinson's disease.

The culprit behind the disease turns out to be a mysterious gene found in the brain called PRRT2. Nobody knows what this gene does, and it bears little resemblance to anything else in the human genome.

"This is both exciting and a little bit scary," said Louis Ptacek, MD, who led the research. Ptacek is the John C. Coleman Distinguished Professor of Neurology at UCSF and a Howard Hughes Medical Institute Investigator.

Discovering the gene that causes PKD/IC will help researchers understand how the disease works. It gives doctors a potential new way of definitively diagnosing the disease by looking for genetic mutations in the gene. The work may also shed light on other conditions that are characterized by movement disorders, including possibly Parkinson's disease.

"Understanding the underlying biology of this disease is absolutely going to help us understand movement disorders in general," Ptacek said.

About the Disease

PKD/IC strikes infants with epileptic seizures that generally disappear within a year or two. However, the disease often reemerges later in childhood as a movement disorder in which children suffer sudden, startling, involuntary jerks when they start to move. Even thinking about moving is enough to cause some of these children to jerk involuntarily.

The disease is rare, and Ptacek estimates strikes about one out of every 100,000 people in the United States. At the same time, the disease is classified as "idiopathic"which is just another way of saying we don't really understand it, Ptacek said.

If you take an image of the brain by MRI, patients with the disease all look completely normal. There are no injuries, tumors or other obvious signs that account for the movementsas is often the case with movement disorders. Work with patients in the clinic had suggested a genetic cause, however.

"Sometimes we trace the family tree, and lo and behold, there is a history of it," said Ptacek. In the last several years, he and his colleagues have developed a large cohort of patients whose families have a history of the disease.

The new research was based on a cohort of 103 such families that included one or more members with the disease. Genetic testing of these families led to the researchers to mutations in the PRRT2 gene, which cause the proteins the gene encodes to shorten or disappear entirely in the brain and spinal cord, where they normally reside.

One possible explanation for the resulting neurological symptoms, the researchers found, relates to a loss of neuronal regulation. When the genetic mutations cause the gene products to go missing, the nerve cells where they normally appear may become overly excited, firing too frequently or strongly and leading to the involuntary movements.


'/>"/>

Contact: Jason Socrates Bardi
jason.bardi@ucsf.edu
415-502-6397
University of California - San Francisco
Source:Eurekalert  

Related medicine news :

1. UCSF-led team decodes evolution of skin and ovarian cancer cells
2. UCSF-led team discovers familial link in rare childhood leukemia
3. Team discovers how a cancer-causing bacterium spurs cell death
4. 23andMe discovers genetic variant that may protect those at risk for Parkinsons disease
5. Louisiana State University Health Sciences Center research discovers key to survival of brain cells
6. UNH researcher discovers research manipulated to support pro-eugenic beliefs
7. Research discovers genetic link to Barretts esophagus, esophageal cancer
8. Expert discovers simple method of dealing with harmful radioactive iodine
9. UCSF team discovers key to fighting drug-resistant leukemia
10. UCSF team discovers new way to predict breast cancer survival and enhance effectiveness of treatment
11. OHSU Doernbecher discovers new approach to drug resistance in aggressive childhood cancer
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
UCSF-led team discovers cause of rare disease
(Date:5/26/2017)... ... ... On May 24, the Congressional Budget Office (CBO) projected that the amended ... would result in 23 million Americans losing their health insurance by 2026 as compared ... Affordable Care Act (ACA). , “It is clear from the CBO analysis that ...
(Date:5/26/2017)... CA (PRWEB) , ... May 26, 2017 , ... Dr. ... is proud to announce a new, informational blog post on insurance options. If a ... checking insurance plans may help save time and money. Visiting an in-network provider for ...
(Date:5/26/2017)... ... May 26, 2017 , ... “Cactus Jack: Against All Odds”: ... many others. “Cactus Jack: Against All Odds” is the creation of published author, ... Hubbard is married to Jack Carlisle’s third child Jane. Walter. Walter and Jane ...
(Date:5/24/2017)... , ... May 24, 2017 , ... Altec ... participation in nVerge 2017 – a one-day technology conference in San Diego, CA. ... solution, which allows users to fully utilize and enhance their Sage ERP solutions by ...
(Date:5/24/2017)... DC (PRWEB) , ... May 24, 2017 , ... ... Center for Global Policy Solutions is vehemently opposed to Donald Trump’s budget, “A ... formula for despair that inspires fear, demonizes the poor, marginalizes underserved populations, undermines ...
Breaking Medicine News(10 mins):
(Date:5/6/2017)... , May 5, 2017   Provista , a ... more than 200,000 customers, today announced Jim Cunniff ... wealth of executive and business experience to Provista, including most ... pharmacy in California . He assumed his ... "Jim is a great fit for Provista," says Jody ...
(Date:5/4/2017)... , May 4, 2017  A recent ... Control, Ultraviolet-C light as a means ... SmartUVC,s ability to reduce bioburden on anesthesia workstations. ... reduction on high-touch, complex medical equipment surfaces contaminated ... infections. "This study further validates the ...
(Date:5/4/2017)... WAYNE, Pa. , May 4, 2017 /PRNewswire/ ... made from thermoplastics and other highly-engineered materials, is ... Microextrusion tubing has been developed in recent ... neurovascular interventional therapies and surgical applications. More expensive ... used to produce microextrusion tubing due to their ...
Breaking Medicine Technology: