Cold Spring Harbor Laboratory

CSHL scientists clarify editing error underlying genetic neurodegenerative disease

Published in Pain and Central Nervous System Week, February 9th, 2009

Two molecular biologists at Cold Spring Harbor Laboratory have uncovered important new details about how a gene mutation causes a cellular editing error that results in a devastating disease called pontocerebellar hypoplasia (PCH). The new findings were published online, ahead of print, on January 25th in the journal Nature Structural and Molecular Biology.

Typically striking during early childhood, PCH is characterized by the slow wasting away of certain parts of the brain, resulting in abnormal brain function and cognitive impairment characteristic of mental retardation. Although scientists have known about the gene mutation that causes the disease, they haven't been...

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Source: Pain and Central Nervous System Week (2009-02-09)

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