Rare Disease Day

Well, today is rare disease day (http://www.rarediseaseday.org/), and I thought it was time to move a bit further out from the shadows and begin to link up my various on-line presences. Today I've:

• added my name to my blogger profile here, 
• removed the word "possible" from the blog header,
• joined HSP groups on facebook,
• added "herediary spastic paraplegia" to my twitter bio,
• added links here from my facebook and twitter pages,
• written an HSP post on my internal work blog.

So, social media, tick! On this front it is my intention to tweet about HSP things that occur to me. I realise that twitter may start to get a bit messy as I mix work and HSP things, but then that's the point of hashtags. I'm going to use #hspfsp for the condition and #hspjourney for this blog. @munkee74.

Yesterday I had the opportunity to meet Dr Evan Reid at Addenbrookes, Cambridge. My mum had an appointment with him and I went along with her. I learnt some interesting stuff there, and that will certainly form a post (or two) in the near future.

It comes as no surprise that the general advice is for people to stay fit, healthy and active. He noted that there are Paralympians who live in wheelchairs who are at the peak of their fitness. This observation reminded me of the recent HSP newslink front page article about Rebecca Hart, a Paralympian Equestrian from the USA. http://www.hspgroup.org/ 

1st March edit - I also decided at the end of the day to add a link and post on LinkedIn, completing my current set of social media profiles. Its been a very interesting 24 hours looking at my visitor statistics since all this posting/linking activity.

4th March footnote - What a busy few days! I'd like to thank people for their messages, likes and re-tweets, and for taking the time to read this blog.

HSP Research - Trawl Update

Time ticks by.

I've been reading abstracts and trying to categorise them. Today marks the completion of the 2012 papers retrieved so far (41) and the move into 2011 (5 papers), and I've also started working backwards, having done all papers with abstracts from 1976 and before (10 papers - earliest abstract from 1953).

The four papers which I've so far identified as the most interesting (yes, I know that's very subjective) are:


1) Transcriptional and post-transcriptional regulation of SPAST, the gene most frequently mutated in hereditary spastic paraplegia. http://www.ncbi.nlm.nih.gov/pubmed/?term=22574173 Henson BJ, Zhu W, Hardaway K, Wetzel JL, Stefan M, Albers KM, Nicholls RD.

This paper identified the regulatory mechanisms controlling the expression of SPAST (therefore SPG4), providing new functional targets for mutation screening and therapeutic targeting in HSP.

2)  White and grey matter abnormalities in patients with SPG11 mutations. http://www.ncbi.nlm.nih.gov/pubmed/?term=22696581 França MC Jr, Yasuda CL, Pereira FR, D'Abreu A, Lopes-Ramos CM, Rosa MV, Cendes F, Lopes-Cendes I.

This paper investigated the extent of brain damage in patients with SPG11

3) Disease severity affects quality of life of hereditary spastic paraplegia patients. http://www.ncbi.nlm.nih.gov/pubmed/?term=21631647 Klimpe S, Schüle R, Kassubek J, Otto S, Kohl Z, Klebe S, Klopstock T, Ratzka S, Karle K, Schöls L.

This paper correlated Health-Related Quality of Life (HRQoL) with severity of HSP, concluding that quality of life deteriorates as symptoms progress. They recomended that HRQoL should be considered in trials.

4) Bladder dysfunction in hereditary spastic paraplegia: a clinical and urodynamic evaluation. http://www.ncbi.nlm.nih.gov/pubmed/?term=22289900 Fourtassi M, Jacquin-Courtois S, Scheiber-Nogueira MC, Hajjioui A, Luaute J, Charvier K, Maucort-Boulch D, Rode G.


This paper quantifies bladder problems for people with HSP.