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.