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Dementia

Genetic finding sheds light on diseases causing blood vessel breakdown

Published in Medical Devices and Surgical Technology Week, August 19th, 2007

Twenty-one years after they first described a fatal genetic disorder in Missouri and Arkansas families, scientists at Washington University School of Medicine in St. Louis have linked the condition to mutations in a gene known as TREX1.

The study appears online in Nature Genetics.

The identification will accelerate efforts to understand and treat retinal vasculopathy with cerebral leukodystrophy (RVCL), a rare condition that usually goes unrecognized or is misdiagnosed. In Asian and Caucasian patients with the disease, a complex and ultimately fatal barrage of primarily central nervous system symptoms begins around age 45 that includes vision loss,...

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