Hereditary Condition Causing Limb Weakness Traced to Gene for Rare Disorder

A gene that causes a fatal childhood brain disorder can also cause adults to develop peripheral neuropathy, a condition resulting in weakness and decreased sensation in the hands and limbs, according to a study by researchers at the National Institutes of Health and other institutions. The study is the first to show that different mutations in the same gene cause the two seemingly unrelated disorders.

Inherited peripheral neuropathies are a diverse group of disorders that cause loss of muscle tissue in the hands, feet, and lower legs of affected patients, usually starting in adulthood. Various genetic causes have been identified for Charcot-Marie-Tooth disease (CMT) (http://www.nature.com/ejhg/journal/v17/n6/pdf/ejhg200931a.pdf.), the broad category of inherited peripheral neuropathy that affects approximately 125,000 people in the United States. The peripheral nervous system consists of nerves that reside or extend outside of the brain and spinal cord.