Seemingly normal young people are suddenly and dramatically unable to control movement of their arms or legs and have trouble speaking or swallowing. A normal life is nearly impossible.
RDP is caused by a genetic mutation (ATP1A3) that often runs in families. Now Wake Forest Baptist Medical Center researchers believe that same genetic predisposition might also be associated with psychiatric problems, such as anxiety, mood disorders and substance abuse/dependence.
Allison Brashear, M.D., chair of neurology at Wake Forest Baptist, and the lead investigator in this $2.5 million, four-year study funded by the National Institute of Neurological Disorders and Stroke (NINDS), said this is one of the few studies to look at this rare condition that has no known treatment. "RDP often occurs suddenly after a stressful episode, such as running a marathon or childbirth," said Brashear. "Patients become severely disabled over hours to days and do not recover."
Following standard physical examination and behavioral assessment, Brashear's team found that individuals with the mutation but without the motor symptoms did not report any history of psychiatric disorder, while those with dystonia symptoms reported anxiety (48 percent; control 41percent), mood (50 percent; control 22 percent), psychotic (19 percent; control 0 percent) and substance abuse/dependence (38 percent; control 27 percent).
Researchers concluded that ATP1A3 mutations cause a wide spectrum of motor and nonmotor symptoms and that psychotic symptoms tended to develop before or simultaneous to the beginning of motor dysfunction. Further, the team believes the findings suggest psychiatric disorders may be another expression of the genetic mutation. Brashear said there are also clinical implications as a result of this study and suggested that those who deal with patients with psychosis, particularly in families with a history of dystonia-parkinsonism, consider the genetic mutation as a possible contributor to the mental illness.
Co-authors in this study were: Jared F. Cook, M.A., Deborah F. Hill, M.A, Alethea Amponsah, B.A., Beverly M. Snively, Ph.D., Laney Light, M.S., Cynthia K. Suerken, M.S., W. Vaughn McCall, M.D., and Niki Boggs, B.A., of Wake Forest Baptist; Laurie Ozelius, Ph.D., Mount Sinai School of Medicine; and Kathleen J. Sweadner, Ph.D., Harvard Medical School.
Funding for this study was provided by the National Institute for Neurological Disorders and Stroke through Grant # NINDS 5R01-NS058949-04.
Paula Faria | EurekAlert!
How molecules teeter in a laser field
18.01.2019 | Forschungsverbund Berlin
Discovery of enhanced bone growth could lead to new treatments for osteoporosis
18.01.2019 | University of California - Los Angeles
The scientific and political community alike stress the importance of German Antarctic research
Joint Press Release from the BMBF and AWI
The Antarctic is a frigid continent south of the Antarctic Circle, where researchers are the only inhabitants. Despite the hostile conditions, here the Alfred...
World first experiments on sensor that may revolutionise everything from medical devices to unmanned vehicles
The new sensor - capable of detecting vibrations of living cells - may revolutionise everything from medical devices to unmanned vehicles.
Dead and alive at the same time? Researchers at the Max Planck Institute of Quantum Optics have implemented Erwin Schrödinger’s paradoxical gedanken experiment employing an entangled atom-light state.
In 1935 Erwin Schrödinger formulated a thought experiment designed to capture the paradoxical nature of quantum physics. The crucial element of this gedanken...
Cellulose obtained from wood has amazing material properties. Empa researchers are now equipping the biodegradable material with additional functionalities to produce implants for cartilage diseases using 3D printing.
It all starts with an ear. Empa researcher Michael Hausmann removes the object shaped like a human ear from the 3D printer and explains:
The phenomenon of so-called superlubricity is known, but so far the explanation at the atomic level has been missing: for example, how does extremely low friction occur in bearings? Researchers from the Fraunhofer Institutes IWM and IWS jointly deciphered a universal mechanism of superlubricity for certain diamond-like carbon layers in combination with organic lubricants. Based on this knowledge, it is now possible to formulate design rules for supra lubricating layer-lubricant combinations. The results are presented in an article in Nature Communications, volume 10.
One of the most important prerequisites for sustainable and environmentally friendly mobility is minimizing friction. Research and industry have been dedicated...
16.01.2019 | Event News
14.01.2019 | Event News
12.12.2018 | Event News
18.01.2019 | Materials Sciences
18.01.2019 | Life Sciences
18.01.2019 | Health and Medicine