Featured Research

from universities, journals, and other organizations

Researchers Discover New Test For Genetic Disease Related To Parkinson’s

Date:
January 1, 2003
Source:
Oregon Health & Science University
Summary:
Researchers at Oregon Health & Science University (OHSU) and the University of California, San Francisco (UCSF) have discovered a new test for patients suffering from Hallervorden-Spatz Syndrome (HSS). This is the same research team that located the key gene behind this rare neurodegenerative disorder related to Parkinson's disease in 2001. The results of their most recent findings are printed in the Jan. 2 edition of The New England Journal of Medicine.

PORTLAND, Ore. – Researchers at Oregon Health & Science University (OHSU) and the University of California, San Francisco (UCSF) have discovered a new test for patients suffering from Hallervorden-Spatz Syndrome (HSS). This is the same research team that located the key gene behind this rare neurodegenerative disorder related to Parkinson's disease in 2001. The results of their most recent findings are printed in the Jan. 2 edition of The New England Journal of Medicine.

"Two years ago, researchers at UCSF and OHSU located PANK2, the gene that when mutated causes HSS," said Susan Hayflick, M.D., associate professor of molecular and medical genetics in the OHSU School of Medicine. "The latest finding was a remarkable correlation that was made after studying patients who were PANK2-mutation positive. Magnetic resonance imaging (MRI) revealed the same brain disease patterns in each and every one of these patients."

The pattern, described as the "eye of the tiger sign" was located deep within a portion of the brain called the basal ganglia. The eye of the tiger pattern is thought to be caused by brain changes linked to an enzyme deficiency caused by the mutated PANK2 (pantothenate kinase) gene. The portion of the basal ganglia where the pattern was located is home to a number of other neurological disorders, including Parkinson's disease, Huntington's disease and Tourette's syndrome.

Much like Parkinson's disease, HSS is characterized by the accumulation of iron deposits in the brain. This results in gradual loss of muscle control, often leading to a vegetative state. Patients with HSS often also lose the ability to speak and chew food. HSS is an autosomal-recessive disorder, meaning both parents must contribute a mutated gene for their child to have the disease. Depending on the form of the disease, many patients die before age 20.

"Defining defects in PANK2 has led to the discovery of an unsuspected biochemical pathway in neurodegenerative diseases. We are now working to figure out why these defects lead to cell death and iron accumulation in this very specific area of the brain. One wonders whether defects in other enzymes in the pantothenate kinase pathway could also lead to neurodegenerative diseases for which we have no handle," said Jane Gitschier, Ph.D., UCSF professor of medicine and pediatrics.

To conduct this research, scientists from OHSU and UCSF studied 123 patients from 98 families. Some patients suffered from the classic form of the disease that appears early in life and progresses rapidly. The rest of the patients had the late-onset form of the disease that surfaces later in life and progresses at a slower rate.

In addition to the discovery of a new testing method for HSS patients, this research better defined the early- and late-onset forms of the disease. For instance, in patients with the late-onset form, severe stuttering, behavioral problems and Parkinsonian-like symptoms are often noted in the early stages of the disease. The research results may also lead to a new treatment. The enzyme deficiency linked to PANK2 mutations appears to be less severe in the late-onset form of the disease. At this point, researchers believe vitamin B-5 could help compensate for the deficiency, perhaps even in some early-onset cases. However, this is a hypothesis that requires further evaluation, researchers say.


Story Source:

The above story is based on materials provided by Oregon Health & Science University. Note: Materials may be edited for content and length.


Cite This Page:

Oregon Health & Science University. "Researchers Discover New Test For Genetic Disease Related To Parkinson’s." ScienceDaily. ScienceDaily, 1 January 2003. <www.sciencedaily.com/releases/2003/01/030101222648.htm>.
Oregon Health & Science University. (2003, January 1). Researchers Discover New Test For Genetic Disease Related To Parkinson’s. ScienceDaily. Retrieved April 25, 2014 from www.sciencedaily.com/releases/2003/01/030101222648.htm
Oregon Health & Science University. "Researchers Discover New Test For Genetic Disease Related To Parkinson’s." ScienceDaily. www.sciencedaily.com/releases/2003/01/030101222648.htm (accessed April 25, 2014).

Share This



More Health & Medicine News

Friday, April 25, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Deadly Fungus Killing Bats, Spreading in US

Deadly Fungus Killing Bats, Spreading in US

AP (Apr. 24, 2014) A disease that has killed more than six million cave-dwelling bats in the United States is on the move and wildlife biologists are worried. White Nose Syndrome, discovered in New York in 2006, has now spread to 25 states. (April 24) Video provided by AP
Powered by NewsLook.com
Companies Ramp Up Wellness to Lower Health Costs

Companies Ramp Up Wellness to Lower Health Costs

AP (Apr. 24, 2014) That little voice telling you to exercise, get in shape and get healthy is probably coming from your boss. More companies are beefing up wellness programs to try and cut down their health care costs. (April 24) Video provided by AP
Powered by NewsLook.com
Blood From World's Oldest Woman Suggests Life Limit

Blood From World's Oldest Woman Suggests Life Limit

Newsy (Apr. 24, 2014) Scientists say for the extremely elderly, their stem cells might reach a state of exhaustion. This could limit one's life span. Video provided by Newsy
Powered by NewsLook.com
FDA Wants To Ban Sales Of E-Cigarettes To Minors

FDA Wants To Ban Sales Of E-Cigarettes To Minors

Newsy (Apr. 24, 2014) The Food and Drug Administration wants to crack down on the use of e-cigarettes, banning the sale of the product to minors. 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:
from the past week

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