Novel genetic mutation may lead to the progressive loss of motor function

Tuesday, August 2, 2016

NIH mouse study identifies the mechanism responsible for a rare form of pediatric neuropathy.

Researchers from the National Institutes of Health and their colleagues identified the genetic cause and a possible therapeutic target for a rare form of pediatric progressive neuropathy. Neuropathy, damage or disease affecting the peripheral nervous system, can range from rare conditions linked to a patient’s exome to more common causes like diabetes and viral infections. Neuropathies can affect both motor and sensory neurons, producing muscle weakness, numbness, pain, and a wide range of symptoms. The study was published in the journal Science Signaling and was a collaboration between the NIH’s National Institute of Neurological Disorders and Stroke (NINDS); Vanderbilt University, Nashville, Tennessee; and Yale School of Medicine, New Haven, Connecticut.