Quest Magazine

Jerry Mendell's Research Team Receives Award

A team headed by neurologist Jerry Mendell, a longtime MDA research grantee and director of the MDA Clinic at Nationwide Children's Hospital in Columbus, Ohio, has received the prestigious Annals of Neurology prize for an outstanding contribution to clinical neuroscience.

Periodic Paralysis Research Mouse Developed

MDA grantee Stephen Cannon at the University of Texas Southwestern Medical Center in Dallas coordinated a study team that has developed a mouse model of one type of hypokalemic periodic paralysis, publishing the development in the Oct. 3, 2011, issue of the Journal of Clinical Investigation.

Dichlorphenamide Being Tested in Periodic Paralysis

A multicenter study of the drug dichlorphenamide in 140 adults with hyperkalemic or hypokalemic periodic paralysis is open at sites in California, Kansas, Massachusetts, Minnesota, Missouri, New York, Ohio and Texas, as well as in France (not yet recruiting), Italy and the United Kingdom. 

A Potential Biomarker for SOD1 ALS

An MDA-supported team of scientists has identified specific changes that occur in the spinal cord prior to disease onset in people with familial (inherited) ALS related to mutations in the SOD1 gene.

Online Familial ALS Registry Opens

A new registry has been launched for people with the familial (inherited) form of amyotrophic lateral sclerosis (ALS). The Web-based fALS Connect registry was developed by a research team from the University of Miami Miller School of Medicine in Florida.

The team aims to connect families affected by familial ALS with scientists who study the disease, in an effort to accelerate the development of treatments and cures.

Systemic Antisense Injections Rescue Severe SMA Mice

Treatment of a mouse model of severe spinal muscular atrophy (SMA) with an antisense oligonucleotide results in greater and longer-lasting benefit when given systemically than when given only to the central nervous system, new research shows.

NeuRx Diaphragm Pacing System Approved for ALS

The U.S. Food and Drug Administration has approved the NeuRx Diaphragm Pacing System for treatment of hypoventilation (inadequate breathing) in amyotrophic lateral sclerosis (ALS).

Research Briefs: Spinal Muscular Atrophy

Skeletal muscle damage reversed in SMA mice

In addition to muscle damage caused by the loss of motor neurons in the spinal cord, skeletal muscle degeneration inspinal muscular atrophy (SMA) also stems from low levels of the protein SMN in muscle fibers. Now a team of scientists from Germany and the United Kingdom reports that muscle damage caused by low SMN can be reversed with drugs.

C9ORF72 Mutation Most Common Cause of Familial ALS, FTD, ALS-FTD

Two independent research teams have identified a mutation in the gene for chromosome 9 open reading frame 72 (C9ORF72) as the most common cause found to date of familialALS (amyotrophic lateral sclerosis), frontotemporal dementia (FTD) and ALS with FTD (ALS-FTD).

Man with CMD Died Doing What He Loved

Michael Wogan had been looking forward to the trip to the National Championship Air Races in Reno, Nev.

According to his younger brother James, “Michael liked to get out and travel, and he was so excited about getting on a plane.”

Michael’s older brother Billy, 26 — who, like Michael, 22, and James, 19, has congenital muscular dystrophy (CMD)— was supposed to attend the show with their dad. When he couldn’t, Michael went instead.

He promised to tell his brothers all about it.