Charcot Marie Tooth Disease News and Research

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Charcot-Marie-Tooth disease is a group of progressive disorders that affect the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles as well as sensory cells that detect sensations such as touch, pain, heat, and sound.

MDA awards 42 medical researchers and labs over $21M for critical neuromuscular research

Forty-two medical researchers and their labs have been awarded over $21 million by the Muscular Dystrophy Association to continue critical neuromuscular research. Many of the grants are multi-year awards to be dispersed over the next three years.

1 Apr 2010

Muscular dystrophy: $1M grant for study of erectile dysfunction drugs in improving muscle blood flow

A Cedars-Sinai Heart Institute cardiologist has been awarded a three-year, nearly $1 million grant from the Muscular Dystrophy Association (MDA) to study whether drugs used to treat erectile dysfunction could also be used to improve muscle blood flow and reduce fatigue in muscular dystrophy patients.

26 Mar 2010

Cardiologist receives grant to study impact of erectile dysfunction drugs on muscular dystrophy patients

25 Mar 2010

Scientists identify specific causative genetic mutation associated with CMT

Scientists using advanced genomic analysis technologies from Life Technologies Corporation have sequenced an individual’s genome and identified the specific causative mutation associated with Charcot-Marie-Tooth Disease (CMT), one of the most common inherited neurological disorders currently affecting 1 in 2,500 individuals in the United States.

11 Mar 2010

PTC Therapeutics initiates additional clinical trial of ataluren in boys and young men with nmDBMD

PTC Therapeutics, Inc. (PTC) today announced the initiation of an additional clinical trial of ataluren (PTC124®) in boys and young men with nonsense mutation Duchenne/Becker muscular dystrophy (nmDBMD) who have permanently lost the ability to walk independently.

20 Jan 2010

PRPS1 gene associated with DFN2 identified by researchers

A gene associated with a rare form of progressive deafness in males has been identified by an international team of researchers funded by the National Institute on Deafness and Other Communication Disorders.

17 Dec 2009

Scientists find mechanism that protects neurons from calcium overload

Tsuruta et al. find that a lipid kinase directs a voltage-gated calcium channel's degradation to save neurons from a lethal dose of overexcitement. The study appears in the October 19, 2009 issue of the Journal of Cell Biology (www.jcb.org).

20 Oct 2009

DNA template could explain evolutionary shifts

Rearrangements of all sizes in genomes, genes and exons can result from a glitch in DNA copying that occurs when the process stalls at a critical point and then shifts to a different genetic template, duplicating and even triplicating genes or just shuffling or deleting part of the code within them, said researchers from Baylor College of Medicine in a recent report in the journal Nature Genetics.

22 Jun 2009

New mouse model provides insight into human neuronal diseases

Neurosensory diseases are difficult to model in mice because their symptoms are complex and diverse. The genetic causes identified are often lethal when transferred to a mouse.

26 May 2009

New clues about mitochondrial 'growth spurts'

Mitochondria are restless, continually merging and splitting. But contrary to conventional wisdom, the size of these organelles depends on more than fusion and fission, as Berman et al. show. Mitochondrial growth and degradation are also part of the equation.

2 Mar 2009

Discovery introduces a lot of new questions about nervous system

A delay in traffic may cause a headache, but a delay in the nervous system can cause much more.

3 Feb 2009

Discovery of protein key to neuro-regeneration

Researchers at the Peninsula Medical School in the South West of England, University College London, the San Raffaele Scientific Institute in Milan and Cancer Research UK, have for the first time identified a protein that is key to the regeneration of damage in the peripheral nervous system and which could with further research lead to understanding diseases of our peripheral nervous systems and provide clues to methods of repairing damage in the central nervous system, according to a paper published this week in the Journal of Cell Biology.

20 May 2008

New motor system impairment diagnosing tool

Researchers from the Universidad Politécnica de Madrid are developing a tool that will allow doctors to easily evaluate the degree and type of the tremors caused in the upper limbs by some neurological disorders.

14 Jan 2008

Mutations in a protein called dynein may cause inherited neuropathy

Mutations in a protein called dynein, required for the proper functioning of sensory nerve cells, can cause defects in mice that may provide crucial clues leading to better treatments for a human nerve disorder known as peripheral neuropathy, which affects about three percent of all those over age 60.

28 Dec 2007

New way to detect neuropathy

Scientists have demonstrated a new technique for detecting a painful nerve condition known as neuropathy, which affects millions of people with diabetes and many other patients as well.

5 Dec 2007

Genomic disorders occur more frequently than previously thought

Research published today in Nature Genetics shows that some rearrangements of the human genome occur more frequently than previously thought.

3 Dec 2007

Scientists identify gene responsible for one type of Charcot-Marie-Tooth disorder

Scientists have identified the gene responsible for one type of Charcot-Marie-Tooth disorder, a common inherited neurological disease, thanks to the chance appearance of a strain of impaired 'pale tremor' mice in a University of Michigan research laboratory.

23 Jun 2007

Single master gene crucial for nerve cell insulation

Researchers funded by the National Institutes of Health have discovered how a defect in a single master gene disrupts the process by which several genes interact to create myelin, a fatty coating that covers nerve cells and increases the speed and reliability of their electrical signals.

17 Apr 2007

Research simplifies diagnosis of Charcot-Marie-Tooth disease

Charcot-Marie-Tooth (CMT) disease is the most common hereditary disorder of the peripheral nervous system, leading to a weakening of the muscles in the lower legs, feet and hands as the nerves that run from the spinal cord to the muscles die off.

24 Jul 2006

Gene mutation discovered that causes a rare form of Charcot-Marie-Tooth disease

A multi-national research team that includes a Saint Louis University neurologist has discovered a gene mutation that causes a rare form of Charcot-Marie-Tooth disease, an inherited progressive nerve disorder. The findings are published in an advance online issue of Nature Genetics

13 Feb 2006