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Saturday, 22 October 2011

FSP Research

Edit 26th November: I realised that this post says nothing really, but that the links are very interesting, so I've added some summary info for each link.

I had thought for a while about looking up the current research into HSP/FSP, primarily to see if I could find any stories/studies involving stem cells. It would seem that the Australian HSP group are funding such a study - details of which are here:


Stem Cell Pilot Study 2009/10

What is it?

The National Centre for Adult Stem Cell Research (NCASCR) and the HSP Research Foundation (HSPRF) have collaborated to implement a Pilot Study aimed at:
  • Growing and maintaining olfactory stem cell lines
  • Differentiating them to other nerve cells and
  • Defining biological differences in SPG4 cell lines from normal cell lines.
This can lead to the definition of drug targets, that is, compounds that may promote normal cell function instead of impaired cell function caused by the particular mutation. 

http://www.hspersunite.org.au/stem-cells-hsp/
http://www.asscr.org/index.php?id=1030

I also found an earlier study which had looked at them here:
http://www.hsp-info.de/Project-reports.32.0.html?&L=1

HSP Promotion Award

Together with the German Neurolgy Organisation (DGN) the award was donated to young researchers, working in the field of HSP in the broadest sense. Since 2008/2009 caused by our 10 anniversary we changed this award into "advanced scholarship"


http://www.hsp-info.de/Project-7.108.0.html?&L=1#c377

Reconstitution of neural functions in the spinal cord through neural stem cells expressing the neural cell adhesion molecule L1

Neural stem cells have recently been shown to be potent and versatile mediators of regeneration in the lesioned central nervous system. They can integrate into the tissue, differentiate into neuronal cells, and grow axons leading to the formation of new synapses and partial restoration of lost functions. The neural cell adhesion molecule L1 has been shown to be a good neurite outgrowth promoter. L1 is upregulated by neurons and Schwann cells after a peripheral nerve lesion and has been implicated in axon regeneration. We propose to test the effect of L1 expressed by genetically manipulated neural stem cells on neuronal differentiation, survival and neurite outgrowth in a mammalian model of spinal cord regeneration


I also found another couple of sites giving other research studies into HSP, and have included them here for completeness.

SPG4 Genetic Research Study

Researchers at Baylor College of Medicine are enrolling subjects in a genetic research study of type 4 autosomal dominant spastic paraplegia (SPG4). They are studying the way that different types of gene mutations lead to differences in clinical symptoms among SPG4 patients.
If you or your family member has been diagnosed with a "deletion" or "duplication" mutation in the SPG4 disease gene (this gene is also called SPAST), you will likely qualify to participate.

HSP Genetic Study

There is a HSP genetic study currently underway at the University of Miami. If you are interested in participating or finding out more information, please contact Fiorella atmihgHSP@med.miami.edu.
The Miami Institute for Human Genomics Genetic is looking for INDIVIDUALS and their FAMILIES who would like to participate in Hereditary Spastic Paraplegia (HSP) research. The purpose of the research study is to identify genetic factors that contribute to Hereditary Spastic Paraplegia (HSP).

http://www.sp-foundation.org/research-study-groups.html


Dr JamilĂ© HAZAN's team has demonstrated that in the zebrafish atlastin, the protein encoded by the SPG3Agene, controls the architecture of spinal motor neurons and thus the mobility of the larvae during embryonic development of this small fish.


https://sites.google.com/site/eurohsp/scientific-breakthroughts


Sunday, 9 October 2011

Pins and needles

Looking back over my previous posts I talked a while ago about pins and needles (Feb 11 http://hspjourney.blogspot.com/2011/02/symptoms-update.html), and thought I'd have a look to see what else I could find.

Pins and needles is really called paraesthesia, although it would appear also to be spelt paresthesia on some web pages (wikipedia indicates that the former is the British English spelling) http://en.wikipedia.org/wiki/Paresthesia

There are various website which indicate that paraesthesia is a possible feature in uncomplicated/pure HSP - for example http://neuromuscular.wustl.edu/spinal/fsp.html. But, I don't seem to be able to find any referenced papers/studies describing this. Some sites describe it as affecting "below the knee", others in the "lower legs" whereas others just list the term generally without indicating where it might occur.

My main reason, however, for coming back to this issue was that I don't think I've been noticing the pins and needles as much in the last few months and wanted to note that issue here. It doesn't take much reading to find out that pins and needles can be caused by dehydration, lack of sleep, stress, etc. etc. so, perhaps it was one of those (or indeed something else) which caused that then and not really since.