HSPRF Workshop, Sydney, 25 October 2009
37 members of the HSP community attended the Sunday morning Workshop followed by a casual get-together over lunch. HSPRF Vice President and Workshop Convener, Con Xiros said he was pleased with the energy and enthusiasm shown by participants with lots of interaction, engagement and questions being asked. Con also expressed his appreciation of the continuing support from Professor Nicholson for the kind use of the facilities at Concord for the Workshop.
The Workshop sessions:
Science and Diagnostics of HSP – Professor Garth Nicholson, Neurogenetics, Sydney University
Making Life Easier at Home for HSPers – Rolene Nehama, Independent Living Centre of NSW
Tendon Transfer – Rehabilitation Surgeon Dr. Grace Warren, Rehabilitation Physiotherapists Vu Ong & Anne Roge, Stephen Lunn, HSPer and patient
Benefits of Whole Body Exercise – Ben Power, Physiotherapist
Stem Cell Pilot Study – Robin Bligh, HSPRF
Science and Diagnostics of HSP – an update
Professor Garth Nicholson, Neurogenetics, Sydney University
Professor Garth Nicholson spoke of the importance of the Foundation and how Workshops such as this one a very important part of its function.
Addressing medical aspects of HSP, Professor Nicholson spent some time exploring the complexity and difficulty of clinical diagnosis of HSP, demonstrating that it is far from easy, even for doctors aware of HSP.
He then went on to talk about surgical rehabilitation options and the need for greater awareness of these amongst the HSP community. There were at least three people in the audience who had undergone tendon transfer procedures and all with significant success.
Professor Nicholson then spoke on drug trials using PTC 124 on people with nonsense mutations in Duchenne muscular dystrophy. This drug – now known as Ataluren – is now in advanced clinical trial stage with the potential for HSPers to be included. This would require significant resources from the Foundation and a collaboration with the Muscular Dystrophy Association. (Editor’s note: available literature indicates that approximately 10% of HSPers have a nonsense mutation and are therefore potential beneficiaries if and when a treatment becomes available)
In closing, Professor Nicholson reminded the audience that we have moved a long way in just a few years with our knowledge of causes, genes, types of mutations that cause HSP. There is also increasing focus on ways to treat the symptoms of HSP – whether it be surgery, physiotherapy, mobility aids or individual fitness and exercise regimes.
Making Life Easier at Home for HSPers
Rolene Nehama, Independent Living Centre of NSW
Rolene Nehama said that the Independent Living Centre of NSW aims to help people overcome obstacles and issues in daily life with assistive technologies. The ILC is a not-for-profit, non-government organisation that does not charge for its services. No referral is necessary – people can just call and they will be answered by an occupational therapist, or they can make an appointment and come in to their location and check out what is available first-hand.
The expertise they offer, and is so often missing, is matching equipment to needs AND capabilities. That is, can the person comfortably use and maintain the particular technology? The ILC also have expertise in screening available assistive technologies for quality, suitability and effectiveness.
There exists a Government subsidised home modification service, where the government foot the bill for approximately 33% of the total costs. An occupational therapist comes out and does an assessment first, however there is a 3-6 month waiting list. The ILC does the same job promptly on a fee-for-service basis.
There are tens of thousands of items on the database which can be accessed through the website. The ILC also keeps several thousand items at any one time at their location – which in Sydney is in Parramatta.
Rolene then demonstrated different technologies for different purposes to the group, to help with things like:
- Getting in and out of bed
- Moving around at night in the dark
- Toilet use
- Kitchen and cooking
- Moving around/walking
- Phones and personal alarms
- Cars and access to them.
Find out about the Independent Living Centre closest to you.
Tendon Transfer – a success story
Rehabilitation Surgeon Dr. Grace Warren
Rehabilitation Physiotherapists Vu Ong & Anne Roge
Stephen Lunn, HSPer and patient
Steve started by sharing with the group his quest to try to maintain his declining mobility and increasing difficulty walking. He talked about going down the Baclofen track to control spasticity, but was found unsuitable for the pump. He realised that he could be fitter and stronger and was not his ideal weight, so went to an exercise physiologist to develop a program designed for him. Steve said that he found this very helpful and can recommend it to others.
Stephen told how he saw a DVD from a Charcot-Marie-Tooth (a disease with some similarity to HSP) workshop that covered the tendon transfer operation. He then met with Dr. Warren to see if he may be a suitable candidate. Steve was toe dragging with both feet quite noticeably turned in, so that the toes of his dragging left foot were catching on his right heel quite often, causing him to trip and sometimes to fall. The assessment determined that his adductor muscles were very tight and spastic.
Photo: Dr. Warren demonstrating.
Dr. Warren thought that surgery could help, with the aim of making Steve’s feet go straight ahead.
View Dr. Warren’s PowerPoint presentation
Care of the Feet
Dr. Warren talked about treating neuropathies of the feet and hands over many years and encouraged people to check and to be aware of diminished pain protection or loss of heat sensation in the feet. She said that it was common for people to report that they could feel objects being pushed into the soles of their feet quite well – that there was no loss of function. However, if the testing is a little more thorough, it is often found that people cannot tell the difference between a sharp or a blunt object. That is, what they are responding to and what they are feeling, is pressure when something is pushed against the sole of the foot, but the lack of ability to distinguish between blunt and sharp objects indicates some level of neuropathy. Dr. Warren urged HSPers to be particularly attentive to the care of their feet.
Physiotherapy, Orthotics, Diet
Dr. Warren also talked about the benefits of physiotherapy and regular exercise. She said that orthotics are essential for many to maximise and maintain their mobility. She has also found that vitamin and mineral supplementation in the diet will improve function in those with neuropathies. She recommends vitamin B1, vitamin C, plus calcium and magnesium supplementation.
Photo: Steve, his wife Robyn, Anne & Vu
Vu & Anne, rehabilitation physiotherapists, then spoke of their role in Steve’s case and the importance of physiotherapy both before and after the surgery.
View the Physiotherapy PowerPoint presentation
Vu told the audience that he was new to HSP, while Anne shared that she had had a lot of experience with spasticity.
In closing, Steve said that he wishes that he had had the surgery ages ago. He suggested for those interested – first off consult your HSP neurologist.
Benefits of Whole Body Exercise
Ben Power, Physiotherapist
Ben has been working with HSPRF Vice President Con Xiros, with positive results. Ben talked about the need for general fitness for HSPers, focusing on the “training effect” and the need to exercise those muscles that HSPers under use.
Ben reaffirmed the need for heart-lung or cardiovascular fitness, with 20 minutes of moderate exercise, 3-4 times per week as a basis. He spoke of the need to enjoy and have variety in exercise, and suggested HSPers think more about sport than they might normally do, given their difficulties with mobility.
Ben talked about balance exercises and the benefits of yoga, Pilates, tai chi and how they all help with flexibility and strength.
So should you experiment or stick to the same thing you always do? The real question is to find something you enjoy – and that might take experimentation. What will keep you going is to do something you like the best – and of course, this may change over time. Ben’s point that he came back to is that it has got to be enjoyable for anyone to persist with it. Ben advised to make sure that there is a good balance between upper and lower body exercise, between strength and muscular endurance.
He referred to the two articles on the website in the Living with HSP section and encouraged people to return to them again and again as a valuable resource and guide.
Ben also spoke about the desirability and lack of issues with water-based activity and sports for HSPers.
In response to a question about balance, Ben gave the following options:
- Standing on one leg with your eyes closed
- Throwing and catching a ball
- Doing this in water as a variation
- Sit on an exercise bicycle and alternate with your feet on and then off the pedals, not holding on to the handlebars so that you are balancing just on your seat
- As you get better with this you can add throwing and catching exercises as you sit on the bike with your feet off the pedals.
Ben concluded his question-packed session with the advice to always consult a physiotherapist about developing an exercise program specific for YOU.
To find a list of physiotherapists in your area, especially ones who may have neurological interest and expertise, Google ‘physiotherapists’ in your State to find listings by localities and special interest.
Stem Cell Pilot Study – progress report
Robin Bligh, HSPRF Retiring President
Robin presented on the progress of the stem cell pilot study underway at Griffith University in Queensland.
Who is conducting the Pilot Study?
Professor Alan Mackay-Sim
Director, National Centre for Adult Stem Cell Research
Griffith University, Brisbane
Dr. Carolyn Sue,
Director of Neurogenetics
Royal North Shore Hospital, Sydney
Dr. Gregor Abrahamsen
Griffith University, Brisbane
Dr. Stephen WoodResearcher
Griffith University, Brisbane
Pilot Study Purpose
How do SPG4 mutations affect cell functions?
Need to be sure we can determine effects of SPG4 before we can be confident of successful research later on to find a cure.
Need to distinguish differences from normal.
Pilot Study Progress
What we are finding – taken from a review done in August, 2009, halfway through the 12 month study period.
*We now have a bank of stem cell cultures from 25 HSPers, 14 of whom have a mutation in SPG4
*Some frozen down for later use; others actively growing and generating data for the researchers
*Human stem cell model of disease is revealing alterations from normal
*Differences in gene expression already found between normal and HSP cells are “dramatic and highly significant”
*This means there are good signposts as to targets, i.e. which impaired cell functions are going to be aimed at for drug screening.
Pilot Study leads to Research
Using human stem cells reveals alterations in HSP vs normal cells.
1. Find differences in cell biology — HSP vs normal
2. Identify target cell functions for drug candidate screening
3. Determine assay for each target
4. Set up the screening
5. Validate with high throughput screening (HTS) of 1,000 compounds
(pilot study finishes here)
6. If unsuccessful, state of the art robotic process for HTS of 2 more libraries of compounds
Disease specific alterations can be identified and lead to therapeutic drug targets. (new technology awaiting publication)
‘Towards A Cure’ Research Program Timeline
Purpose: “Restore cellular functions altered in HSPers”
*Pilot Study conducted by NCASCR 2/’09-2/’10
*Proposed research 2010-11:
- finalize drug screen targets
- develop assays for targets, then
- screening preparation
- validate assays
- screen 1,000 CNS candidate drugs – ‘proof of principle’ step before screening
- drug discovery and development
- clinical trials 201?
- funding, preferably by NHMRC and or ARC.
*Are you interested in participating in the research program?
*Have you been clinically diagnosed with HSP?
*To join the stem cell bank, call
Wendy Welsh, clinic and research nurse on
02 9926 6491
or email her at [email protected]