Featured Research

from universities, journals, and other organizations

Intractable seizures halted with experimental treatment for rare pediatric 'Pretzel syndrome'

Date:
April 24, 2013
Source:
Perelman School of Medicine at the University of Pennsylvania
Summary:
With a better understanding of underlying mechanisms that cause a rare neurodevelopmental disorder in the Old Order Mennonite population, referred to as Pretzel syndrome, a new study reports that five children were successfully treated with a drug that modifies the disease process, minimizing seizures and improving receptive language.

With a better understanding of underlying mechanisms that cause a rare neurodevelopmental disorder in the Old Order Mennonite population, referred to as Pretzel syndrome, a new study reports that five children were successfully treated with a drug that modifies the disease process, minimizing seizures and improving receptive language.

Related Articles


The study, by researchers including experts from the Perelman School of Medicine at the University of Pennsylvania, appears in the journal Science Translational Medicine.

The disease -- PSME or polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome, commonly called Pretzel syndrome -- is caused by a double-deletion of a specific gene that encodes for STRADA. About 4 percent of Old Order Mennonite individuals in Ohio, Pennsylvania and New York have a single copy of the deleted gene. When a double-deletion occurs, the loss of STRADA causes an activation of mTORC1 and, subsequently, the kinase p70S6K. This causes intractable seizures and results in limited cognitive development and language function, leaving PSME patients wheelchair-bound, mute and completely dependent.

When five children, ranging from 8 months old to nearly 5 years old, were given doses of a drug that inhibits mTOR, the drug Sirolimus (rapamycin) significantly reduced seizures. Four of the five patients have been seizure free for the last year; previously no PSME patients had achieved freedom from seizures, even while on anti-epileptic medication. Starting the drug by three months of age seemed to stave off seizures; one patient who started treatment early had a single seizure and another has had no seizures.

The use of this drug in Pretzel syndrome patients stems from earlier research showing that sirolimus was an effective treatment for a related and more common disorder, tuberous sclerosis complex (TSC), which is also associated with seizures, altered brain structure and enhanced mTOR activation.

The research was conducted by a team including the study's senior author, Peter Crino, MD, PhD, now at Temple University School of Medicine and Shriners Pediatric Research Center; lead author and MD/PhD candidate Whitney Parker, and Ksenia Orlova, William Parker, Jacqueline Birnbaum, Marianna Baybis, Jetle Helfferich, and Kei Okochi from the Penn Epilepsy Center and Department of Neurology; Vera Krymskaya and Dmitry Goncharov from Penn's Pulmonary, Allergy and Critical Care division, and collagues from the University of Groningen School of Medicine in the Netherlands, as well as partners from the Clinic for Special Children in Strasburg, Pa., the Department of Biology in Franklin and Marshall College and Lancaster General Hospital in Lancaster, Pa.

The study was funded by the National Institutes of Health (NS045022, HL110551, GM008216) and the Penn-Pfizer Collaborative Program, and a Ruth L. Kirschstein National Research Service Award.


Story Source:

The above story is based on materials provided by Perelman School of Medicine at the University of Pennsylvania. Note: Materials may be edited for content and length.


Journal Reference:

  1. W. E. Parker, K. A. Orlova, W. H. Parker, J. F. Birnbaum, V. P. Krymskaya, D. A. Goncharov, M. Baybis, J. Helfferich, K. Okochi, K. A. Strauss, P. B. Crino. Rapamycin Prevents Seizures After Depletion of STRADA in a Rare Neurodevelopmental Disorder. Science Translational Medicine, 2013; 5 (182): 182ra53 DOI: 10.1126/scitranslmed.3005271

Cite This Page:

Perelman School of Medicine at the University of Pennsylvania. "Intractable seizures halted with experimental treatment for rare pediatric 'Pretzel syndrome'." ScienceDaily. ScienceDaily, 24 April 2013. <www.sciencedaily.com/releases/2013/04/130424160933.htm>.
Perelman School of Medicine at the University of Pennsylvania. (2013, April 24). Intractable seizures halted with experimental treatment for rare pediatric 'Pretzel syndrome'. ScienceDaily. Retrieved October 26, 2014 from www.sciencedaily.com/releases/2013/04/130424160933.htm
Perelman School of Medicine at the University of Pennsylvania. "Intractable seizures halted with experimental treatment for rare pediatric 'Pretzel syndrome'." ScienceDaily. www.sciencedaily.com/releases/2013/04/130424160933.htm (accessed October 26, 2014).

Share This



More Mind & Brain News

Sunday, October 26, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Academic Scandal Shocks UNC

Academic Scandal Shocks UNC

AP (Oct. 23, 2014) A scandal involving bogus classes and inflated grades at the University of North Carolina was bigger than previously reported, a new investigation found. (Oct. 23) Video provided by AP
Powered by NewsLook.com
Working Mother Getaway: Beaches Turks & Caicos

Working Mother Getaway: Beaches Turks & Caicos

Working Mother (Oct. 22, 2014) Feast your eyes on this gorgeous family-friendly resort. Video provided by Working Mother
Powered by NewsLook.com
What Your Favorite Color Says About You

What Your Favorite Color Says About You

Buzz60 (Oct. 22, 2014) We all have one color we love to wear, and believe it or not, your color preference may reveal some of your character traits. In celebration of National Color Day, Krystin Goodwin (@kyrstingoodwin) highlights what your favorite colors may say about you. Video provided by Buzz60
Powered by NewsLook.com
First-Of-Its-Kind Treatment Gives Man Ability To Walk Again

First-Of-Its-Kind Treatment Gives Man Ability To Walk Again

Newsy (Oct. 21, 2014) A medical team has for the first time given a man the ability to walk again after transplanting cells from his brain onto his severed spinal cord. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins