Featured Research

from universities, journals, and other organizations

New test makes Parkinson's-like disorder of middle age detectable in young adulthood

Date:
April 1, 2014
Source:
University of California - Davis Health System
Summary:
The very earliest signs of a debilitating neurodegenerative disorder, in which physical symptoms are not apparent until the fifth decade of life, are detectable in individuals as young as 30 years old using a new, sophisticated type of neuroimaging, researchers have found. People with the condition -- fragile X-associated tremor/ataxia syndrome (FXTAS) -- experience tremors, poor balance, cognitive impairments and Parkinsonism. The genetic condition results from a mutation in the fragile X mental retardation gene (FMR1).

The very earliest signs of a debilitating neurodegenerative disorder, in which physical symptoms are not apparent until the fifth decade of life, are detectable in individuals as young as 30 years old using a new, sophisticated type of neuroimaging, researchers at UC Davis, the University of Illinois and UCLA have found.

Related Articles


People with the condition -- fragile X-associated tremor/ataxia syndrome (FXTAS) -- experience tremors, poor balance, cognitive impairments and Parkinsonism. The genetic condition results from a mutation in the fragile X mental retardation gene (FMR1). FXTAS develops in about 40 percent of male and 15 percent of female carriers of the mutated FMR1 gene.

"Our findings suggest that the brain abnormalities of FXTAS may begin to develop about two decades before symptoms might occur," said Tony J. Simon, study senior author and professor, Department of Psychiatry and Behavioral Sciences.

"Altered Structural Brain Connectome in Young Adult Fragile X Premutation Carriers," is published in Human Brain Mapping.

The study included 88 participants, between age 20 and 40. Of these, 46 were symptomless carriers of the FMR1 gene mutation (fXPCs). They were matched by age and gender with 42 healthy individuals without the gene mutation. IQ test results did not differ between the fXPCs and controls.

In males, it found a correlation between the efficiency of a healthy male carrier's brain network and the extent of his gene mutation. The correlation may prove to be an effective marker of early brain aging in neurologically symptomless fXPCs. The study also revealed that the volume of the brain stem is smaller in male fXPCS than in male controls.

In a novel finding, among the female participants, researchers detected volume differences in several brain areas of female fXPCs and female controls.

"These suggest the presence of compensatory mechanisms in neurologically symptomless females but not in similar male carriers of the gene mutation," said Simon, a researcher affiliated with the UC Davis MIND Institute.

Despite the absence of any clinical symptoms of FXTAS, the male and female gene mutation carriers performed significantly worse in several tests when compared to unaffected controls, Simon said.

"Given the lower risk for FXTAS or related neurological symptoms in female fXPCs, we were surprised to find such differences when their minds and brains were compared with those of the unaffected female controls," he said.

Both groups were evaluated by cognitive testing as well as novel neuroimaging techniques termed "brain connectomics," based on diffusion tensor imaging (DTI) whole-brain tractography. A connectome is a comprehensive map, like a wiring diagram, of neural connections in the brain. The methods used were partly developed by study first author Alex Leow of the University of Illinois, Chicago. The investigation is the first-ever connectome study using DTI-whole brain tractography to compare fXPCs and controls.

The technology allowed Simon and his collaborators to conduct a system-wide investigation of the connections between the brain's grey matter, which is involved in movement control, sensory perception, memory, emotions, speech, decision-making and self-control, and the white matter structures that transmit the signals that underlie these actions and behaviors.

The study suggests that combining analyses of cognitive function, clinical data and connectome patterns in premutation carriers may be more effective ways to characterize an individual's underlying brain pathophysiology, and possibly assessing risks for later degeneration, than is possible using current methods.

In addition to FXTAS, the fragile X-associated disorders include fragile X syndrome, the most common form of intellectual disability in children, and fragile X-associated primary ovarian insufficiency (FXPOI).

"Identifying these brain changes when the individuals who carry the gene mutation are young is important because there are medical interventions that can help them avoid or reduce their symptoms," said MIND Institute Medical Director Randi Hagerman.


Story Source:

The above story is based on materials provided by University of California - Davis Health System. Note: Materials may be edited for content and length.


Journal Reference:

  1. Alex Leow, Danielle Harvey, Naomi J. Goodrich-Hunsaker, Johnson Gadelkarim, Anand Kumar, Liang Zhan, Susan M. Rivera, Tony J. Simon. Altered structural brain connectome in young adult fragile X premutation carriers. Human Brain Mapping, 2014; DOI: 10.1002/hbm.22491

Cite This Page:

University of California - Davis Health System. "New test makes Parkinson's-like disorder of middle age detectable in young adulthood." ScienceDaily. ScienceDaily, 1 April 2014. <www.sciencedaily.com/releases/2014/04/140401102705.htm>.
University of California - Davis Health System. (2014, April 1). New test makes Parkinson's-like disorder of middle age detectable in young adulthood. ScienceDaily. Retrieved October 30, 2014 from www.sciencedaily.com/releases/2014/04/140401102705.htm
University of California - Davis Health System. "New test makes Parkinson's-like disorder of middle age detectable in young adulthood." ScienceDaily. www.sciencedaily.com/releases/2014/04/140401102705.htm (accessed October 30, 2014).

Share This



More Health & Medicine News

Thursday, October 30, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Mind-Controlled Prosthetic Arm Restores Amputee Dexterity

Mind-Controlled Prosthetic Arm Restores Amputee Dexterity

Reuters - Innovations Video Online (Oct. 29, 2014) A Swedish amputee who became the first person to ever receive a brain controlled prosthetic arm is able to manipulate and handle delicate objects with an unprecedented level of dexterity. The device is connected directly to his bone, nerves and muscles, giving him the ability to control it with his thoughts. Matthew Stock reports. Video provided by Reuters
Powered by NewsLook.com
Google To Use Nanoparticles, Wearables To Detect Disease

Google To Use Nanoparticles, Wearables To Detect Disease

Newsy (Oct. 29, 2014) Google X wants to improve modern medicine with nanoparticles and a wearable device. It's all an attempt to tackle disease detection and prevention. Video provided by Newsy
Powered by NewsLook.com
Can Drinking Milk Lead To Early Death?

Can Drinking Milk Lead To Early Death?

Newsy (Oct. 29, 2014) Researchers in Sweden released a study showing heavy milk drinkers face an increased mortality risk from a variety of causes. Video provided by Newsy
Powered by NewsLook.com
Obama: The US Will Not 'run and Hide' From Ebola

Obama: The US Will Not 'run and Hide' From Ebola

AP (Oct. 29, 2014) Surrounded by health care workers in the White House East Room, President Barack Obama said the U.S. will likely see additional Ebola cases in the weeks ahead. But he said the nation can't seal itself off in the fight against the disease. (Oct. 29) Video provided by AP
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