Charcot-Marie-Tooth disorder is one of the most common inherited neurological disorders – it affects 1 in 2,500 people in the U.S. This label actually refers to a group of related conditions that affect the body’s peripheral nerves, resulting in pain and muscle weakness in the feet and legs.Until now, the genetic causes for 70% of Charcot-Marie-Tooth cases have been known and genetic testing can help guide treatment for affected individuals. It can also help family members determine their risk.
Now another 5% or so of these families will be able to identify their genetic cause of Charcot-Marie-Tooth. Geneticist Miriam Meisler and her team at the University of Michigan have identified a mutation in a gene ( FIG4 ) in both mice with similar symptoms and people who have Charcot-Marie-Tooth disorder. We can expect this discovery will lead to new strategies for treating the symptoms of this form of the disorder.
(Photo: Mouse with FIG4 mutation, thanks to Miriam Meisler)