Sunday, 29 June 2014

AGM2014: HSP Research at Plymouth University - Prof Jon Marsden

This post combines together both of the times which Jon Marsden spoke at the AGM. He spoke first to introduce Plymouth Universities areas of research interest, and to introduce his colleagues, whose presentations I will cover in separate posts. He then, later in the day, Suggested some research which he would like to commission.

Plymouth University Research

Jon began by defining HSP into two parts, being the two main areas of research. The "H" - hereditary - is the genetics side of things, and research seeks to understand what causes HSP, what the different affected genes do, and that kind of thing, and seeking potential treatments.

The "SP" - spastic paraplegia - is about the effects, and this is what is concentrated on at Plymouth. This research seeks to understand what symptoms are seen, how these symptoms affect quality of life, and how the symptoms can be reduced.

Jon observed that there is a third element, which combines the two parts looking at overall service delivery and support, which would consider things like physiotherapy, mobility aids, and so on.

At Plymouth, over the years, the team has been looking at the impact of HSP, understanding what the effects are. They have undertaken research by asking people questions and undertaking examinations and measurements. Measurements might include stiffness or strength, or sensitivity to vibration, and these would be looked at in the context of the study being undertaken - for example, how does HSP affect people balance.

In this regard, HSP affects hip muscles, which limits sideways leg movements, and stiffness in ankle musckles affects back and forth movements, so the HSP gait involves swaying from side to side and a lot of dragging feet along the floor. But, some stiffness is needed for balance, and the contrast is that if you reduce the stiffness to increase mobility then you may decrease balance. A certain amount of stiffness is needed in our muscles to allow balance normally, and HSP adds to this stiffness. This element can be treated with stretching, and some of the work at Plymouth has been to target therapies to the symptoms.

Looking at the overall service delivery side of things, Jon reported a study that they have recently completed which examines this process, and concludes that "People with HSP require better self-management advice, information and support."

In Jons presentation later in the day described this research. One of their findings is that there is a poor evidence base out there on which to make decisions - either about providing treatments to people or about funding further research. Jon listed the common treatments which have been identified as providing a benefit by people with HSP:

  • Genetic counselling, 
  • Anti-spasticity drugs, 
  • Physiotherapy, 
  • Occupational Therapy, 
  • FES (Functional Electrical Stimulation)
  • Tai chi / Pilates / Acupuncture, 
  • Hydrotherapy

There are limited studies covering some of these, perhaps 50 papers in total covering all of these.

Jon reported that the key issues for people with HSP in the south west of the UK (Devon and Cornwall) were:

  • Length of diagnosis
  • Lack of publicity/knowledge
  • The need to travel to get acces to specialist knowledge (e.g. travel to London)
  • Allocation of services (i.e. availability of funding for investigations/treatments)
  • Co-ordination of care (healthcare professionals talking with each other)
  • Lack of evidence for treatments/interventions


Jon then described a potential model for the provision of specialist HSP care, drawing on existing practice in other areas. (I'm not 100% sure it was called Telehealthcare, apologies if not) Essentially, satellite centres would be set up to provide specialist HSP care two times per year. Within these centres there would be video-conferencing to specialist consultants, and there would be a range of other support available during the day.

This solution would reduce the need to travel long distances, and it would improve the knowledge of local professionals about HSP (who may sit in on the specialist consultation video conference), and support for both patients and carers should allow care to be coordinated. 

Jon identified that there was a burden on carers which is frequently ignored. Those who care for people with disability (not just HSP) can experience a whole range of stresses and pressures which affect their own well-being, and having carer support at these clinics would be important.

Jon has put in for funding to undertake a trial for this with three clinics in each of Devon and Cornwall, and is awaiting the outcome, but could be a useful way of providing services. To make the research funding application work, Jon will combine the clinics with similar for hereditary ataxias.


Jons final section was to ask the AGMs opinion on a potential telerehabilitaiton scheme. Effectively, this would be an on-line exercise programme. This has been undertaken for people with MS (Multiple Sclerosis), and Jon speculates that this could be good for people with HSP, and wants to set up a controlled trial.

Part of the management of HSP is undertaking regular stretches and exercise, and the on-line programme would give you a personalised programme to follow. Jon showed us some video examples from the MS example. Principally, after a consultation you would be given an exercise programme to follow, which you would do, with the computer/tablet providing the timing and allowing you to give feedback.

With the MS one there was no evidence of an improvement, but there were positive subjective opinions. Jon noted that the use of the programme fell with people dropping out over the 12 week trial, and that there was limited take-up.

Jon suggested that it would be straightforward to add motivational elements and educational information as well as links to support networks (e.g. facebook).

In discussions with the AGM, there was a general opinion that those with HSP notice the difference if they don't do their exercises, and the drop-off in use may not be so big. Suggestions were made that this could be combined with the telehealthcare, offering group exercise sessions at the clinics. Discussions went slightly off track by talking about the potential to use the accelerometers (etc) in phones/tablets to allow apps to monitor your exercise programme and provide feedback to the system.

Jon wanted to set up patient focus groups to allow the definition of this study and the firming up of the application for funding. Jon saw the trial potentially taking place with three groups in different parts of the UK so that the research would not be biased to people within a particular geographic situation. 

So, if you're an HSP support group member, make contact with the group and be sure to say you're interested in research. If you're in the UK with HSP and not a member, then why not join? - you could contact Plymouth and express your interest. 

Friday, 27 June 2014

HSP Support Group 2014 AGM

Last weekend I went to the UK HSP Support Group AGM.

The first part of the day was the AGM of the group, with good reports - the membership of the group is up, and the number of honorary members is also up - medical professionals who work with HSP are frequently made honorary members, and the number of members of the facebook group is up.

There have been more meetings in more places than the previous year, which is good as it means members are sharing their experiences more.

A new feature is that if members wish to take part in medial research, then this can be stored with the group, allowing researchers to approach group members to see if they would like to take part in studies.

During the day there were four presentations, which I will go into further details in subsequent posts (like I did last year). In summary:

The team at Plymouth University presented an overview of their work, research that they are currently undertaking, and research they would like to undertake. Prof Jon Marsden, Amanda Denton and Kate Winstone covered these areas between them, over two presentation 'slots'.

Dr Evan Reid of Cambridge University gave an overview of research in HSP and gave everyone an insight into what happens with HSP at the cellular level.

David Heard of Sportability gave us an introduction to the types of sports that his charity allows people with paralysis to have a go with, and the positive results which they achieve.

As last year, it was good mix of friendly people, and everyone used the breaks between presentations to chat to old friends and get to know new people. The event was well organised and well attended, and I enjoyed talking with people. As I observed last year, there are people with a wide range of mobility and a wide range of mobility aids, and it is a good reminder that whilst HSP is a rare disease, it really is ~70 different rare diseases grouped together.

Sunday, 15 June 2014

HSP Clinic Report - Symptoms too.

I received in the post this week the letter from my visit to the HSP clinic in London. On the whole the letter echoes my recollections of the appointment, as I described in May: The main difference was the observation that I have "slight spasticity" in my arms. Now, this has bought a few things to mind which I've not really been paying attention to in recent weeks/months. (and here comes the second symptoms update post in a row!)

I have, over the last few weeks, been noticing that I feel a little less steady on my bike when I raise one of my arms to indicate. I had thought that this might be the start of my balance going as separate from my spasticity increasing, but having some spasticity in my arms would be a much more logical explanation for this. I have also been finding that I've had pins and needles more in my arms recently and that generally "something" had changed/was changing. Without wishing to alarmingly predict pessimistically, it may seem that HSP is beginning to affect my arms as well. (see "negative automatic thoughts" here as well: This then sets another chain of thought going in my head as the nerves that control the arms don't end up going within the spine for nearly as much length as those which control the legs, and that makes me re-imagine what form the nerve degradation takes.

Back to normality: The letter includes the request for referral to a neurophysiotherapist, the request for a 4mg prescription of Detrusitol XL including a reminder about the dry mouth side effect, and a request for a referral to an orthotics clinic for custom insoles. I have "lax" ankle joints and walk on the insides of my feet, with some leg spasticity, clonus, tight tendon achilles and brief reflexes - all leading to rapid shoe wear.

I did discuss bowel issues briefly in clinic (as I have mentioned before . The received wisdom is that this is quite unusual in HSP (although some 60% of respondents in my survey reported some issues on this front and further investigation is required on this front, perhaps with an appointment with a gastrointestinal surgeon.

During June there have also been a few links to this blog appearing on various HSP group sites around the world, mostly connected with the survey results. Next weekend sees the UK HSP Support Groups AGM in Leamington Spa, which I'm looking forward to going to. Perhaps I'll bump into some of my UK readers there? Do find me and say hello if you want! (