Neurology / Neuroscience News

An Answer To A Mysterious Movement Disorder Discovered In The Genome

Children with a rather mysterious movement disorder can have hundreds of attacks every day in which they inexplicably make sudden movements or sudden changes in the speed of their movements. New evidence reported in an early online publication from the January 2012 inaugural issue of Cell Reports, the first open-access journal of Cell Press, provides an answer for them. Contrary to expectations, the trouble stems from a defective version of a little-known gene that is important for communication from one neuron to the next.

The findings might lead to new strategies for treating a variety of movement disorders, the researchers say.

'Rare' Brain Disorder May Be More Common Than Thought

A global team of neuroscientists, led by researchers at Mayo Clinic in Florida, have found the gene responsible for a brain disorder that may be much more common than once believed. In the Dec. 25 online issue of Nature Genetics, the researchers say they identified 14 different mutations in the gene CSF1R that lead to development of hereditary diffuse leukoencephalopathy with spheroids (HDLS). This is a devastating disorder of the brain's white matter that leads to death between ages 40 and 60. People who inherit the abnormal gene always develop HDLS. Until now, a definite diagnosis of HDLS required examination of brain tissue at biopsy or autopsy.

Brain Size May Predict Risk For Early Alzheimer's Disease

New research suggests that, in people who don't currently have memory problems, those with smaller regions of the brain's cortex may be more likely to develop symptoms consistent with very early Alzheimer's disease. The study is published in the December 21, 2011, online issue of Neurology®, the medical journal of the American Academy of Neurology.

"The ability to identify people who are not showing memory problems and other symptoms but may be at a higher risk for cognitive decline is a very important step toward developing new ways for doctors to detect Alzheimer's disease," said Susan Resnick, PhD, with the National Institute on Aging in Baltimore, who wrote an accompanying editorial.


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