AANS Neurosurgeon | Volume 27, Number 1, 2018

Penn Researchers Identify a New Cause of Inherited Neuropathy

| Newsline

Neurology researchers link mutations in myelin protein to Charcot-Marie-Tooth Disease (CMT)

CMT affects approximately one in 2,500 Americans. This disease comes in many forms and includes a family of inherited disorders that affect the peripheral nervous system. Most forms of CMT have been linked to a small set of causative genes. The most common iteration being CMT1. New research has been conducted by the department of Neurology at the Perelman School of Medicine at the University of Pennsylvania to try to uncover a possible new genetic cause of CMT1. During this study, researchers studied a father and son with CMT1 but did not carry any of the five genes known to cause CMT1. Since the father’s parents did not have the disease, it was suggested that a new mutation had to occur in order for him to present with symptoms. He then passed this mutation onto one of his three sons. To read more, click here. 

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