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New MRI Technique Gives Years-Early Warning

April 3, 2014
Written by: , Filed in: Neuroradiology
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A new MRI technique can provide warning as much as two decades in advance of a debilitating neurodegenerative disorder that impairs both physical and cognitive functioning.

The disorder is fragile X-associated tremor/ataxia syndrome, or FXTAS. It results from a mutation in the fragile X mental retardation gene, but it develops in only some who carry the gene—about 40 percent of the men and 15 percent of the women. Symptoms—tremors, poor balance, cognitive impairments, and Parkinsonism—don’t usually develop until after age 40.

It’s important to determine as early as possible which people with the mutated gene will develop the disorder, according to Randi J. Hagerman, MD, medical director of the MIND Institute (Medical Investigation of Neurodevelopmental Disorders) at the University of California, Davis:

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.

Dr. Hagerman was quoted in a UC Davis news release via EurekAlert! Researchers from UC Davis, the University of Illinois at Chicago, and UCLA worked on the study. An article about the findings was published online February 27 in Human Brain Mapping.

The researchers used diffusion tensor imaging whole-brain tractography to create brain connectomes—comprehensive maps of neural connections in the brain. They imaged the brains of 46 symptomless carriers of the gene mutation and 42 matched controls who did not have the mutation. Study subjects were between the ages of 20 and 40.

The images did find differences in brain structures that seemed to point to future development of the disorder. “Our findings suggest that the brain abnormalities of FXTAS may begin to develop about two decades before symptoms might occur,” said Tony J. Simon, PhD., senior author of the article and a professor of psychiatry and behavioral sciences at UC Davis. Dr. Simon is also on the MIND Institute faculty.

The study found unexpected differences in the brains of male and female subjects with the gene mutation. “These suggest the presence of compensatory mechanisms in neurologically symptomless females but not in similar male carriers of the gene mutation,” Dr. Simon said.

Related CME seminar (up to 21 AMA PRA Category 1 credits™): UCSF Neuro and Musculoskeletal Imaging


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