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)

Spatax Meeting

Towards the end of September I went to the Spatax meeting in Nice, France. The meeting is held every three years, and readers may remember that I went to the previous one in 2016.

As per 2016 I submitted an abstract for a poster, which was accepted, so I was able to get a poster with a summary of the last three years survey results up for those to see. You can see the poster here: https://hspjourney.blogspot.com/2019/11/spatax-meeting-poster-2019.html.

Like 2016, I found the meeting really friendly, and since 2016 I have become more involved with EuroHSP, and there were several from EuroHSP and other HSP support groups there, which it was really good to catch up with. The meeting had 32 presentations made and 70 posters were up. There were 159 participants from 21 countries.

This time there seemed to be a greater proportion of papers covering Ataxia than were covering HSP. This post focuses on the papers of relevance to HSP.

First up was Marina Zapparoli from EuroHSP and the Italian HSP group. She recounted her family story, noting that with HSP there are many things that you cannot do, but that should not stop you focusing on being who you are, and following your dreams.

Right near the end of the first day Rebecca Schule gave an overview of the TreatHSP network. (https://treathsp.net/) This network has the goal to develop and improve treatments for HSP.

They are seeking longitudinal studies and looking at recorded outcomes. There are two key issues with the network: One is that there are consent issues when combining different datasets together, and the other is that there needs to be consistency between datasets so that the whole dataset can be used together. Expert input is needed to resolve this.

On the second day, the first presentation was from Rebecca Schule again. Genetic mutations are not detected at the moment for 45% of unresolved HSP cases.  Rebecca also talked about the RNF170 gene. This gene has been identified with several cases of HSP, and Rebecca noted that this gene could be a "druggable pathway" - i.e. there is potential for drugs to reduce the effects of this type of HSP.

Juan Bonifacino noted that SPG47, SPG50, SPG51 and SPG52 are now grouped together and called AP4. They are developing a mouse model for investigating further.

Later in the day, Frederic Darios reported that they have developed a mouse model which replicates both the physical and cognitive effects of SPG11 (the most frequently occurring recessive form of HSP). They have also been testing a zebrafish model, and may have a cure for zebrafish with SPG11.

The penultimate session of the conference was by far the most interesting - looking at different therapy options:

Lucy Vincent told us about click and dance https://www.clickanddance.com/. Undertaking new activities creates new pathways in the brain. Many people stop creating new movement paths in their brain at age 16-17, and learning to dance creates new pathways. She had everyone in the room up on their feet and was teaching a new dance step.

The website has a range of different options for those who can or cant stand up, and gives a range of 3 minute videos to follow. You can link the game with some wearable devices - some brands of fitbit at the moment.

Matthis Synofzik reported various therapies for ataxia, but my view is that some of these approaches would equally apply to HSP. He reported that physiotherapy is an effective treatment.

More interestingly, he reported that playing exergames was also good. These are games where you control the game through physical movement of a controller rather than pressing buttons on a gamepad. On the xbox they investigated table tennis, which was shown to be good the upper body, light race which was good for the lower body and 20,000 leaks which was good for both upper and lower body. They also tested various games using the Wii balance board, which were shown to be more cognitively demanding. The thing to note is to change games regularly, so that you are creating new neural pathways. They also look at speech training - speech is often affected in ataxia.

Alexander Geurts reported the use of Botox for people with uncomplicated HSP. They identified that if people were walking on their toes then their calf muscles were tights, and if they walked with a scissor gait then their hip adductors were tight. They undertook a programme with botox injections to relieve spasticity in selected patients. The study used a very precise way of positioning the botox injections in the places that they wanted them to achieve the benefits.

For completeness, there were a few other mentions of HSP in some of the other papers presented.

Spatax have prepared their won summary of the conference here:
https://spatax.wordpress.com/2019/10/04/summary-and-abstracts-of-the-6th-international-meeting-on-spastic-paraparesis-and-ataxia-september-20-21-2019-in-nice-france/

You can also see the programme and the abstracts for the posters and selected papers here:
https://spatax.files.wordpress.com/2019/10/booklet_2019-version-en-ligne.pdf

Spatax Meeting Poster 2019

Near the end of September I went to the Spatax meeting in Nice, France. As per 2016 I submitted an abstract for a poster, which was accepted, so I was able to get a poster with a summary of the last three years survey results up for those to see.

You are welcome to see the poster here: https://drive.google.com/open?id=1QgvmCblZcWaOOFuEt6Mul0j2YSHGngLR

The abstract I submitted is:

Three on-line surveys were undertaken in 2016, 2017 and 2018 for people with HSP. 700 responses are reported in full on my HSP blog http://hspjourney.blogspot.co.uk/.

Respondents answered wellbeing questions to explore links between HSP factors and wellbeing.

In 2017 potentially significant wellbeing differentiators were identified:

•       People without pain from HSP have a better wellbeing than those who get pain from HSP.

•       People content with their employment/occupation have a better wellbeing than those not content.

•       People whose employers are not supportive of HSP situations tend to have a lower wellbeing.

•       Those who can walk as far as they want and those unable to walk have a better wellbeing.

In 2018 three symptoms showed significant negative wellbeing effects; depression, stress, and HSP affecting learning/memory. Three further symptoms showed potentially significant negative effects; poor co-ordination, regular falls, and back/hip pain.

Several factors have large wellbeing effects, but many are not direct HSP symptoms. Help or treatment in these may result in improved wellbeing. Potential areas include;

•       Decreasing: Depression, stress, anxiety, worries

•       Lifestyle or other changes to improve sleep

•       Reductions in pain

•       Strength/balance training to reduce falls

•       Activity/exercise to maintain mobility as long as possible

Additional findings:

•       90% with HSP have moderate or severe fatigue.

•       80% with HSP typically get 'discomforting' or 'distressing' pain from HSP.

•       Walking is most affected with; steps/stairs, tiredness/fatigue, uneven ground, carrying.

•       Symptoms with greatest effect; fatigue, difficulty walking, loss of balance, muscles feeling stiff, bladder problems, back/hip pain.

•       Longitudinally, not all symptoms persist from year to year.