Spatax Meeting - Posters

This post covers some of the posters which were up at the Spatax meeting. I have focused on those which were of interest to me, mostly with an HSP focus. I have given the number of the poster, and all abstracts can be found here: https://spatax.files.wordpress.com/2019/10/booklet_2019-version-en-ligne.pdf

Speech Patterns in HSP

Researchers in Brazil have examined speech patterns in a group of 34 patients with the most common types of HSP. (Characterisation of speech patterns in Hereditary Spastic Paraplegia) They aimed to characterise dysarthria in the most prevalent forms of HSP. Analysis of those patients with SPG4 and SPG11 is presented. All with SPG11 had dysarthria. Between 20 and 60% of SPG4 patients showed differing effects. The conclusion is that mild dysarthria is present in both SPG4 and SPG11, and there is a greater impact on speech ineligibility for people with SPG11.  (poster abstract 60)

Cognitive Effects of HSP

Researchers in Brazil have examined cognitive changes in a group of 54 patients with various types of HSP. (Are Cognitive Changes in Hereditary Spastic Paraplegia Restricted to Complicated Forms?) They aimed to characterise cognitive functions of patients with pure and complicated HSP. A variety of screening tests and cognitive function tests were used. Most SPG4 (a pure HSP) presented cognitive changes which not compatible with dementia, with effects in memory, attention and executive funcitons. SPG5 (can be pure or complicated) scored lower in executive function and memory. SPG7 (can be pure of complicated) performed poorly on memory. All functions were markedly altered in CTX and SPG11 patients. The conclusion is that cognitive abnormalities are frequent in both pure and complicated forms of HSP, being more severe in complicated forms. (poster abstract 64)

EuroHSP - Mission and Goals

Information was given about EuroHSP. The group represents 10 national HSP associations from Europe. Their strategic goals are to provide a strong voice for HSP patients at a European level, to support member organisations to be more effective and sustainable, To influence the HSP research agenda so it is more focussed on patient-centric outcomes, and to secure the support of key researchers. (poster abstract 68)

Sequencing of 812 people

Researchers in Paris, France (and other places) have developed a kit to analyse 70 HSP genes in 812 people with HSP (Hereditary Spastic Paraplegia: massive sequencing of 70 genes in a large cohort of 812 cases). The kit couples targeted capture and next generation sequencing together. The HSP patients came from 2 cohorts, in one, an HSP gene was identified in 35% of people, no gene could be identified in 44% of people and unknown genes were identified in 20% of people. Comparable results were found in the other cohort. The technique was noted as having a higher diagnostic rate than more classical strategies. (poster abstract 76)

Gait Timing

A study from Brazil (Natural history of movement abnormalities on hereditary spastic paraplegias: validation of timed-gait measuring functional instruments) used a range of walking tests over 25 HSP patients and 25 controls. Tests included a 6 minute walking test, a 10m walking test and a timed up and go test. They found that on all walking tests there was a moderate to strong correlation with the SPRS scale and with disease stage, and they determined that theoretically these are sensitive enough to detect change. They plan to repeat the study after 18 months. (poster abstract 63)