Dejerine-Sottas

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Study: Stem cells may repair spinal cord damage

September 21, 2005

Filed under: Stem Cell Research

Very exciting news about the potential of stem cells for myelin regeneration.

Injections of human stem cells seem to directly repair some of the damage caused by spinal cord injury, according to research that helped partially paralyzed mice walk again.
The experiment, reported Monday, isn’t the first to show that stem cells offer tantalizing hope for spinal cord injury–other scientists have helped mice recover, too.
But the new work went an extra step, suggesting the connections that the stem cells form to help bridge the damaged spinal cord are key to recovery.
Surprisingly, they didn’t just form new nerve cells. They also formed cells that create the biological insulation that nerve fibers need to communicate. A number of neurological diseases, such as multiple sclerosis, involve loss of that insulation, called myelin.

Respiratory function assessment and intervention in neuromuscular disorders

September 20, 2005

Filed under: Journal articles

Current Opinion in Neurology. 18(5):543-547, October 2005.
Mellies, Uwe; Dohna-Schwake, Christian; Voit, Thomas
Abstract:
Purpose of review: Published research on neuromuscular respiratory failure has increased rapidly over the past decade. Progress in the management of respiratory complications and preventive care have improved outcomes and quality of life for many. In particular, noninvasive positive pressure ventilation (NIPPV) is effective in resolving respiratory failure and has dramatically changed the management of these patients. In this review we discuss recent studies assessing the course of respiratory failure, with a focus on non-Duchenne muscular dystrophy; investigating the impact NIPPV has when it is introduced before diurnal respiratory failure develops; and evaluating a device to treat insufficient cough – the mechanical insufflator-exsufflator (MI-E).
Recent findings: Studies in children with congenital muscular dystrophies and spinal muscular atrophies detected a high prevalence of respiratory complications and confirmed that respiratory failure can be predicted by measurement of vital capacity. NIPPV is an established treatment that is effective in the long-term management of end-stage diurnal respiratory failure. Additionally, recent studies showed improvement in symptoms, quality of life and prevention of respiratory complications when it is introduced for nocturnal hypoventilation before the development of diurnal respiratory failure. However, data on the efficiency of the MI-E are limited, and studies comparing it with other techniques of assisted coughing are needed.
Summary: Recent findings stress the importance of regular respiratory assessment in neuromuscular disease, including sleep studies; strongly support the introduction of NIPPV for management of symptomatic nocturnal hypoventilation; and suggest that prospective randomized trials are required to verify the usefulness of the MI-E.

New NT-3 Editorial by Dr. Pleasure & Dr. Chance

September 17, 2005

Filed under: Search for a Cure

Gretchen of CMTUS has posted a copy of an editorial about NT-3. (Join the group to access their files.)

I have just uploaded the NEW NT-3 Editorial by Dr. David Pleasure and Dr. Phil Chance (CMT Experts) that was published in Neurology. 2005 Sep 13;65(5):662-3 the title is “Neurotrophin-3 therapy for Charcot-Marie-Tooth disease type 1A.” You can find this in our CMTUS Files under ‘NT-3’ click folder to open, then look for ‘NT-3 Editorial’. Vitamin C is mentioned too.
And special thanks to Dr. Chance (in Seattle) who honored my request to read this editorial and send me a copy 🙂 Thanks too, to Dr. Pleasure from the University of California at Davis.

Again, this isn’t specific to Dejerine-Sottas, but may turn out to be applicable for future research.

Glomerular Permeability Is Altered by Loss of P0, a Myelin Protein Expressed in Glomerular Epithelial Cells

Filed under: Understanding the Cause

Journal of the American Society of Nephrology
[Note: P0 is one of the genes implicated in a form of Dejerine-Sottas, though the mutation itself is different. You can read more about P0 here.]
The myelin protein 0 (MPZ or P0) is a transmembrane glycoprotein that represents the most abundant myelin component. Mutations in the P0 gene are associated with one form of autosomal dominant demyelinating peripheral neuropathy, Charcot-Marie-Tooth disease type 1B (CMT1B). Because CMT1 may be associated with renal involvement, mostly focal segmental glomerulosclerosis, we hypothesized that P0 could be expressed in the kidney. P0 mRNA was detected by reverse transcriptase-PCR in the human and mouse renal cortex. P0 transcripts were identified by in situ hybridization at different stages of the mouse kidney development, especially in embryonic structures that give rise to the glomerulus. P0 protein was also detected by Western blot in human and rat glomerular extracts and in a human podocyte cell line using a monoclonal anti-P0 antibody. Immunofluorescence studies on human kidney sections showed that the podocytes were intensely labeled. Immunogold electron microscopy disclosed a predominant staining of the membranes of intracellular vesicles in podocytes. P0 was also detected in the podocyte cell membrane, including at the foot processes. P0-/- mice exhibited mild growth retardation and demyelinating neuropathy similar to the one observed in patients with CMT1B. They also presented mild albuminuria, without significant ultrastructural change of the glomerular basement membrane or the podocytes. These results demonstrate that P0, the major myelin protein, is also expressed during nephrogenesis and in mature kidney, mostly in podocytes. They suggest that P0 gene mutations might be involved in renal diseases.

Neurotrophin 3 Shows Promise in CMT

September 9, 2005

Filed under: Search for a Cure

MDA Research News has a short article about the success of NT3 for nerve regeneration in a small study of CMT1A patients. Again, this isn’t specific to Dejerine-Sottas, but may turn out to be applicable for future research.

A pilot study of eight people with Charcot-Marie-Tooth (CMT) disease, a disorder in which signals in the peripheral nervous system are impaired, has found that treatment with neurotrophin 3 (NT3) improved sensory function and nerve regeneration.

MDAs annual Labor Day Telethon

September 4, 2005

Filed under: Events

In a mass email, MDA urged people to consider making a generous donation to the Salvation Army for Hurricane Katrina relief, and a $15 donation to kick-start the Telethon. Jerry Lewis and Casey Kasem will host the 40th annual MDA Telethon beginning September 4th and continuing to the 5th. Check the station listings (.pdf) to find out what channel will be carrying it in your area or watch it online. Remember, if you donate online, you can earmark your donation to go directly to (much neglected!) Dejerine-Sottas research.

International Conference for 2007 being planned

Filed under: Events

Start saving up; via CMTUS comes word that CMT United Kingdom plans to have an International Convention in 2007:

“I’d like to announce that we are hoping to host an International Convention in England during the latter part of April 2007. We aim to have this from 26th to the 29th of April–a venue has yet to be finalised. We’re hoping to invite some eminent professionals from around the world–if you have any ideas (and contact details), please do send them to me. As we finalise details, we’ll let you all know more, because it would be lovely if we could have representatives (and members) from all your organisations attending. It’s also the 21st anniversary of CMT United Kingdom, so a party is also planned!!”