Researchers Identify Mutations In Charcot-Marie-Tooth Disease That Worsen Peripheral Nerve Damage

A combination of specific genetic mutations in Charcot-Marie-Tooth (CMT) disease that worsens peripheral nerve damage could be a helpful biomarker for predicting the severity of a given case of CMT, a Jackson Laboratory research team reports.

Either of two mutations impacting Scn8a — a sodium channel that is vital to the proper conduction of nerve impulses at the nodes of Ranvier — caused decreased sodium currents that led to severe neurological problems in the CMT mice, Burgess says. “These mutations, while innocuous on their own, can synergize with CMT-associated mutations to cause much more severe disease.” Continue reading Researchers Identify Mutations In Charcot-Marie-Tooth Disease That Worsen Peripheral Nerve Damage

Nerve signal discovery backs Nobel winner’s theory

Scientists have proved a 60-year-old theory about how nerve signals are sent around the body at varying speeds as electrical impulses.

Researchers tested how these signals are transmitted through nerve fibres, which enables us to move and recognise sensations such as touch and smell.

The findings from the University of Edinburgh have validated an idea first proposed by Nobel laureate Sir Andrew Huxley. Continue reading Nerve signal discovery backs Nobel winner’s theory

Biobank Collecting Blood Samples for Neuromuscular Disease Research

Scientists at the National Institute of General Medical Sciences (NIGMS) Human Genetic Cell Repository at the Coriell Institute for Medical Research in Camden, N.J., are seeking blood samples from people with certain inherited neuromuscular diseases for use in research. I have been in contact with Tara Schmidlen, a genetic counselor for the project, who says that they do not yet have any samples from individuals with Dejerine-Sottas in their collection. Read on for more information if you’re interested in helping to fill in the gaps in their scientific knowledge. Continue reading Biobank Collecting Blood Samples for Neuromuscular Disease Research

Volunteer with Dejerine-Sottas to help evaluate business accessibility (Chelsea, Michigan)

Ashley Wiseman didn’t intend on making handicap accessibility in Chelsea’s downtown district her mission. It just ended up that way. Earlier this year on the Chelsea native’s 21st birthday, Wiseman wanted to celebrate at Cleary’s Pub because she thinks it Continue reading Volunteer with Dejerine-Sottas to help evaluate business accessibility (Chelsea, Michigan)

Stanford study first to show antibodies involved in nerve repair in injuries

Antibodies — warrior proteins the immune system makes to defend the body against invading pathogens such as viruses and bacteria — have a gentler side nobody knew about until now: They function not only as soldiers but also as nurses. And researchers at the Stanford University School of Medicine now think antibodies’ absence in the central nervous system (the brain and spinal cord) may be a key part of the reason why nerve damage there doesn’t get naturally repaired in humans. That insight could someday lead to new treatments for stroke and spinal-cord trauma. Continue reading Stanford study first to show antibodies involved in nerve repair in injuries

Neurologists Come Together to Tackle Charcot-Marie-Tooth

(From the University of Rochester Medical Center.) Neurologists around the nation are working together in a nationwide study focusing on Charcot-Marie-Tooth disease, a painful nerve condition that affects more than 100,000 Americans. The team and its Inherited Neuropathies Consortium is Continue reading Neurologists Come Together to Tackle Charcot-Marie-Tooth

Variety appeal to set Chantelle Lawrence free

by Josephine Gillespie for The Queensland Times At only 13, Chantelle Lawrence has already seen the inside of more hospitals than most people will in a lifetime. Born with a rare progressive neuromuscular condition known as Dejerine-Sottas Syndrome, Chantelle has Continue reading Variety appeal to set Chantelle Lawrence free

Girl with Dejerine-Sottas receives Children of Courage award

From the Macedon Ranges Leader, by Barry Kennedy: CARLSRUHE’S Amber Jepsen has a growing set of hobbies including horse riding, playing the keyboard, card games, drawing, painting and writing. The seven-year-old is confident she will be a famous author and Continue reading Girl with Dejerine-Sottas receives Children of Courage award

Why medical discoveries don’t become cures

Desperately Seeking Cures How the road from promising scientific breakthrough to real-world remedy has become all but a dead end. By Sharon Begley and Mary Carmichael | NEWSWEEK Published May 14, 2010 From the magazine issue dated May 31, 2010 Continue reading Why medical discoveries don’t become cures

Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes.

J Neurol. 2010 May 12 Lee YC, Lin KP, Chang MH, Liao YC, Tsai CP, Liao KK, Soong BW. Department of Neurology, National Yang-Ming University School of Medicine, Taipei, Taiwan, ROC. Abstract Mutations in MPZ, which encodes myelin protein zero Continue reading Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes.