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