New research sheds light on childhood neuromuscular disease

A study by scientists at the Motor Neuron Center at Columbia University Medical Center suggests that spinal muscular atrophy (SMA), a genetic neuromuscular disease in infants and children, results primarily from problems in the motor circuits that coordinate muscle movement. Previously, researchers thought that motor neurons or muscle cells were responsible.

In a second study, researchers at the Motor Neuron Center identified the molecular pathway in SMA that leads to problems with motor function. Findings from the studies could lead to therapies for the debilitating and often fatal neuromuscular disease.

"To our knowledge, this is the first clear demonstration that defects in the function of a neuronal circuit are the cause of a neurological disease," Dr. Brian McCabe, assistant professor of pathology and cell biology, said about the first study.

Both studies were published online Oct. 11 in the journal Cell.

SMA is a hereditary neuromuscular disease characterized by and weakness. There is no treatment for SMA, which is estimated to affect as many as 10,000 to 25,000 children and adults in the United States and is the leading genetic cause of death in infants.

Based on the findings of McCabe and his colleagues, the SMA Clinical Research Center at CUMC launched a clinical trial last July of a potassium channel blocker called dalfampridine for the treatment of patients with SMA. The drug is currently marketed under the brand name Ampyra for multiple sclerosis. "This drug is unlikely to be a cure for SMA, but we hope it will benefit patient symptoms," McCabe said.

add to favorites email to friend print save as pdf

Related Stories

Recommended for you

Diet affects men's and women's gut microbes differently

14 hours ago

The microbes living in the guts of males and females react differently to diet, even when the diets are identical, according to a study by scientists from The University of Texas at Austin and six other institutions published ...

Researchers explore what happens when heart cells fail

15 hours ago

Through a grant from the United States-Israel Binational Science Foundation, Biomedical Engineering Associate Professor Naomi Chesler will embark upon a new collaborative research project to better understand ...

Stem cells from nerves form teeth

17 hours ago

Researchers at Karolinska Institutet in Sweden have discovered that stem cells inside the soft tissues of the tooth come from an unexpected source, namely nerves. These findings are now being published in the journal Nature and co ...

User comments