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 o
'/>"/>

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

Page: 1 2

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:9/3/2015)... CA (PRWEB) , ... September 03, 2015 , ... ProScrub ... easily create back & forth, flicker, repeat, and custom speed effects without the use ... and the speed of effect. ProScrub tools are perfect complements to energetic video ...
(Date:9/3/2015)... ... ... Mum n Me is pleased to announce the launch of its ... maximum protection from sun exposure, wind, bugs, and germs. The Mum n Me Baby ... keeping the cover securely in place. The new car seat cover is made with ...
(Date:9/3/2015)... ... ... new cases of prostate cancer are reported each year, along with 27,540 deaths attributed to ... lifetime. While only one man in 10,000 will typically get prostate cancer under age 40, ... American Cancer Society. , Prostate cancer is the second leading cause ...
(Date:9/3/2015)... ... September 03, 2015 , ... The partnership will ... and technical support services to promote LodonalTM in Nigeria. The distribution will become ... efficacy and safety of the product. , Managing Director, Fidson Healthcare Plc, Dr ...
(Date:9/2/2015)... ... September 03, 2015 , ... ... University Bloomberg School of Public Health and an internationally recognized scholar on obesity ... for 2015-16. Dr. Bleich, a Baltimore native and 1996 graduate of Garrison Forest ...
Breaking Medicine News(10 mins):Health News:FCPX Effects Developer Releases ProScrub for Final Cut Pro X 2Health News:Mum n Me Announces New Baby Car Seat Cover 2Health News:Noted Santa Rosa Urologist Dr. Michael Lazar Provides Insights on Prostate Cancer Treatments in Recognition of Prostate Cancer Awareness Month 2Health News:Noted Santa Rosa Urologist Dr. Michael Lazar Provides Insights on Prostate Cancer Treatments in Recognition of Prostate Cancer Awareness Month 3Health News:Fidson Partners US Firms on New Product Marketing 2Health News:Fidson Partners US Firms on New Product Marketing 3Health News:Fidson Partners US Firms on New Product Marketing 4Health News:Dr. Sara Bleich, Garrison Forest Graduate, Selected for 2015-16 Class of White House Fellows 2
... 2009)Fox Chase Cancer Center researchers report that a combination ... inhibitor of the HER2 receptor (ErbB2) appears active in ... on previous trastuzumab based therapies. More than one-quarter ... their tumors shrink on the combination therapy. , ...
... Laboratories, Inc. (Nasdaq: IDXX ), announced today that ... Annual Growth Stock Conference. Jonathan Ayers, Chairman and CEO, is ... June 9, 2009 at 10:50 a.m. (Central Time), at the ... audio webcast of the presentation through a link on the ...
... Darwin National,Assurance Company, a member company of ... AWH ), today announced that Becky Cox has ... role, Ms. Cox will,be responsible for the continued ... alongside Fred Bautista, Vice,President, Business Development, Healthcare. , ...
... Monday, June 1, 20091:30 to 2:30 p.m. Rooftop garden offers patients quiet haven, conservatory features ... Aurora St. Luke,s Medical Center is dedicating the Vince, ... Funds Healing Garden and the Agnes and, ... Monday, June 1, 1:30 to 2:30 p.m., WHERE: ...
... Francisco-to-Los Angeles ride May 31SAN FRANCISCO and LOS ANGELES, ... states and 14 nations will stream out of San ... as participants in the colorful and emotional AIDS/LifeCycle, the ... to raise more than $10 million to support vital ...
... May 28 (HealthDay News) --Should it worry you that there ... , Not especially, when you consider that there are 44 ... , This information comes to you from scientists at the ... same techniques that enabled them to map the human genetic ...
Cached Medicine News:Health News:Small molecule inhibitor shows promise in trastuzumab-resistant metastatic breast cancer 2Health News:Darwin Appoints Becky Cox Vice President, Business Development, Healthcare 2Health News:Darwin Appoints Becky Cox Vice President, Business Development, Healthcare 3Health News:AIDS/LifeCycle 8 to Raise $10+ Million to Fight AIDS 2Health News:AIDS/LifeCycle 8 to Raise $10+ Million to Fight AIDS 3Health News:Study Finds Multitude of Bacteria on Human Skin 2Health News:Study Finds Multitude of Bacteria on Human Skin 3
(Date:9/2/2015)... -- The quantum dot market report analyzes the ecosystem of ... the product includes medical devices, display, and others. The others ... energy storage, QD laser, and transistor. The application segment covers ... market. The report also provides the geographic view for major ... Europe , Asia-Pacific (APAC), ...
(Date:9/2/2015)... YORK , Sept. 2, 2015   About ... the most common laboratory technologies that is used for ... antibodies in solution. ELISA test uses various types of ... phosphatases and the result is detected by photometry or ... the treatment of various infectious diseases such as HIV, ...
(Date:9/2/2015)... , Sept. 2, 2015 Research and Markets ( ... Regulatory Affairs in China (Basel, Switzerland - November 26-27, 2015)" ... will provide a detailed overview of the key areas of ... Hong Kong , Macau ... - All important aspects of gaining and maintaining ...
Breaking Medicine Technology:Quantum Dot Market by Product , Material, Application, and Geography- Forecast up to 2020 2Global Enzyme-Linked Immunosorbent Assay (Elisa) Testing Market 2015-2019 2Global Enzyme-Linked Immunosorbent Assay (Elisa) Testing Market 2015-2019 3Pharmaceutical Regulatory Affairs in China Seminar: Basel, Switzerland - November 26-27, 2015 2
... ... of its efforts to expand awareness of the importance of medical ... America (PhRMA) is announcing today the addition of seven new member ... membership to include an impressive list of progressive companies that represent ...
... ... , ... Will Use BrainTrack,s College Campus Data to Enhance Elsevier Evolve,Website Registrations , ... information products and services, and BrainTrack,( http://www.braintrack.com ), the widely referenced higher-education,directory, announced ...
Cached Medicine Technology:Seven New Biopharmaceutical Research Companies Join PhRMA's Mission to Advance Medical Innovation 2Seven New Biopharmaceutical Research Companies Join PhRMA's Mission to Advance Medical Innovation 3Seven New Biopharmaceutical Research Companies Join PhRMA's Mission to Advance Medical Innovation 4Elsevier Selects BrainTrack Directory as Supplier of College Data 2Elsevier Selects BrainTrack Directory as Supplier of College Data 3Elsevier Selects BrainTrack Directory as Supplier of College Data 4
... ART Aerosol Resistant Tips offer a safe ... Tips are designed for applications such as ... In addition, ART Tips are excellent for ... forensic studies. ART Tips prevent aerosol contaminants ...
Inquire...
... eliminate false signals and contamination caused ... Promega Barrier Tips offer performance and ... acids (PCR(a)), radioactive isotopes, tissue culture ... specimens. , ,Promega Barrier Tips are ...
... Aerosol barrier tips eliminate false ... Scientifically designed and tested, Promega Barrier ... working with amplified nucleic acids (PCR(a)), ... samples, forensic and serological specimens. , ...
Medicine Products: