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Adult neurodegenerative disease linked to quality of early brain development

Harry Orr, Ph.D.

University’s Institute for Human Genetics have shown for the first time that the severity of an adult neurodegenerative disease is tied to how well the brain develops shortly after birth.

The researchers used a mouse model for spinocerebellar ataxia type 1 (SCA 1), a fatal neurodegenerative disease associated with a loss of coordination that affects such actions as walking, speaking, and swallowing. Currently, there is no treatment for the disease.

Harry Orr, Ph.D., professor of genetics, cell biology, and development, and his group compared two groups of mice: In one group they turned off the gene for SCA 1 for two weeks early in the mice’s development. In the second group, they left the gene on.

Twelve weeks later, they found that mice in the group with the inactivated gene appeared normal, while those in the other group had difficulty standing and walking.

Those results may one day help doctors target treatment to coincide with critical times in development, reducing the effects of a disease in which symptoms take years to develop, says Orr.

The research appeared in the November 17, 2006, issue of the journal Cell.

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