Thursday 18 October 2012

More Web Pages

So, I realised that I'd been doing all of my internet browsing using Google, and I thought that it would be useful to try some of the other search engines (Bing and Yahoo) and see if they gave rise to any other pages which I'd not seen or listed before. Here is a digest of what I've found:

Orpha.net 
A search on "paraplegia" in the "Expert Centres" tab will give a result of clinics/hospitals/organisations which have specific expertise in HSP/FSP
http://www.orpha.net/consor/cgi-bin/Clinics.php?lng=EN

Here are some links to other pages with further details on HSP. These pages do tend to get linked from on other HSP pages, so I tend to regard them as containing something unique.
http://www.wemove.org/hsp/
http://www.ninds.nih.gov/disorders/hereditary_spastic_paraplegia/hereditary_spastic_paraplegia.htm
http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/398/viewAbstract
http://www.nhs.uk/conditions/spastic-paraplegia/Pages/Introduction.aspx

This site perhaps out to be listed in a "communities" page, and provides another route for people to connect up with others with the condition.
http://www.makingcontact.org/index.php?ci=583

Finally, as part of my "getting side-tracked" functionality, I was very interested to read here that HSP can skip a generation:
http://rarediseases.info.nih.gov/GARD/Condition/6637/QnA/21581/Hereditary_spastic_paraplegia.aspx
"In some types of HSP, an affected person can have an unaffected child and an affected grandchild. The most likely way for it to appear as if HSP has skipped a generation, is if the type of HSP has autosomal dominant or X-linked recessive inheritance.

In some conditions with autosomal dominant inheritance, a person can inherit the genetic change that causes the disorder but not develop the condition. This phenomenon is called incomplete or reduced penetrance. If this person's children also inherits the genetic change, they may or may not be affected with the disorder. When a disorder has reduced penetrance, it may appear as if the disorder has skipped a generation if the disorder is only penetrant in the grandparent and the grandchild. Reduced penetrance has been reported for some types of autosomal dominant HSP.

X-linked HSP can appear to skip a generation because an affected male can only pass his X chromosome to his daughters and not his sons. All of his sons will be unaffected and his daughters will be unaffected carriers. For example, if a man with X-linked HSP has a daughter, she will be an unaffected carrier of HSP. This woman's sons each have a 50% chance of inheriting the condition."

Oh, there's a load of other info here too....


Sunday 7 October 2012

Index Arrival - Going "Tabular"

This blog is a couple of years old, and I realised that it was getting difficult for me to remember quite what I had found out and where I had posted it, so I decided to make an index. This index is available on new tabs on the blog, allowing you to switch between the blog posts and the index.

In the fullness of time I'll add further tabs for other information - particularly the results of my research papers analysis.