Wednesday, 27 November 2019

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:

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)

Sunday, 24 November 2019

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:

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. ( 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 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:

You can also see the programme and the abstracts for the posters and selected papers here:

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:

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
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.

Thursday, 31 October 2019

Recent News Stories

I have seen a few interesting stories in the news recently.

Gigs and Events

In the UK the company Ticketmaster are making it much easier for disabled people to be able to book tickets for gigs:

"Ticketmaster's scheme allows fans to submit details of their disability online. Once validated, the information is bound to their profile, meaning they can book tickets for all future gigs without extra effort.

In participating venues, accessible seats will be clearly labelled on the seat map like any other ticket - whether that's in the range of a hearing loop, or in a wheelchair-friendly zone, with a free companion ticket."

Gene Editing

This story talks about being able to edit DNA at the letter-by-letter level.

I wonder how this has potential to help those with HSP. I can imagine that this has the potential to prevent further degradation of nerves, so potential is highest for those with an early diagnosis. The article is vague about timelines!

Mind Control Exo-skeleton

This story reports a person with paralysis from a spinal cord injury being able to use his mind to control an exo-skeleton.

The persons has had implants placed on the surface of his brain to allow the signals to be read. At the moment this is limited to laboratory use, so it is early stages. The article comments that the system has also been used to control a wheelchair, which is an interesting adaption. I rather enjoy the concept that the mind control could be used for controlling things other than movement.

Tuesday, 8 October 2019

2019 Survey Open


I am pleased to announce that my 2019 survey is now open. As of today (31st October) the questions are in English, German, Italian, Dutch, French, Spanish, Danish and Portuguese. This post will be updated accordingly if I add more languages.

The main focus for this years survey is medication, and I ask for details of up to 5 medications that you take for HSP symptoms. It is possible to comment about other medications for HSP symptoms if you take more than 5. If you do not take any medication, click "next" through until you get to the exercise and relaxation questions.

In addition, I ask questions on lifespace tracking and I seek a couple of perspectives. Similar to recent years the analysis of answers will take into account both mobility and wellbeing. I will collect answers until approximately the end of 2019, with results published on Rare Disease Day 2020 - Saturday 29th February.

Responses (4 Dec)

Interim Results (3rd December)
I have combined the English and French answers together and undertaken a quick analysis of some results to show a picture of this years results. I'd love more people to answer please!

Out of around 170 people with HSP:

  • 85% consider themselves to be disabled
  • 50% feel that they are vulnerable
  • 30% feel that they are isolated
  • 25% have a care plan
About 170 people answered the life-space questions which gives a feel for how much people get out and about. 
  • More than 90% leave the room they sleep in every day.
  • More than 95% go outside more than once a week, with about two thirds going outside daily
  • More than 90% go to their neighbourhood at least weekly, with one third doing this daily
  • More than 90% go to a nearby town/city/place at least monthly, with half doing this more than once a week
About 140 people answered questions on activities and relaxation.
  • Stretches are undertaken by about 95% of people. More than half do this at least daily
  • Walking or running is undertaken at least daily by about half of people
  • Physiotherapy is undertaken weekly by about a third of people, and less frequently by a quarter
  • Cycling, manual wheelchair or swimming are undertaken by more than half of people
  • Music is enjoyed by two thirds of people, half of which do this daily.

Friday, 27 September 2019

2019 AGM: Bladder Management - Dr Mohammed Belal

The final talk of the day was Dr Mohammed Belal of University Hospital Birmingham who talked on bladder management with HSP.

He began by giving some basic information. The bladder is a low pressure reservoir for fluids, it is a void within the body. The bladder is controlled from the brain with nerves between the bladder and the brain. The average person urinates 7 times in a 24 hour period, with young people urinating fewer times than older people.

An over-active bladder is one which gives the person urgency to go to the toilet before the bladder is full. The bladder is contracting without the permission of the person. In the normal population some 15-20% have an overactive bladder.

Dr Belal described two areas of interest in reducing bladder effects.

Lifestyle Changes

Have your last drink of the day 1-2hours before bed. Even taking a sip of drink during the night will create more urine. As you get older more urine is generated at night.

If you snore then more urine is produced, so getting a better pillow to reduce snoring should reduce the amount of urine generated.

If your wee/urine is clear then you are drinking too much. 1 litre of fluids is enough.

Tea, coffee and alcohol are diuretics whose job is is to generate more urine. Reducing intake of these drinks can reduce the amount of urine.

Bladder training can be effective. Even trying to hold back another 10 minutes can be beneficial. It is wise to keep a bladder diary to identify how often you go. Exercising the pelvic floor muscles can help. Emptying the bladder before going out and before going to bed can help.

Reducing weight and stopping smoking can also help.

The body takes a couple of weeks to adapt to any changes, so perseverance is needed when investigating these factors.


The aim is to reduce pressure in the bladder. This can be achieved in two ways, self catheterisation or using medication

Antimuscarinic drugs reduce bladder spasms. These come in a lot of different forms with different symptoms and risks. Treatment can be limited by side effects including a dry mouth, constipation and effects on the central nervous system.

Botox injections can increase bladder capacity.

Infections are common when starting to use self-catheterisation, which usually need a course of anti-biotics to treat. It is necessary to practice.

It is possible to combine more than one medication.

Dr Belal also described a study which retrospectively looked at 33 people with HSP and their urological function. (link to abstract:

The most frequent symptom was urgency, most use medication, one third use self catheterisation and 10% have botox injections.

Tuesday, 24 September 2019

2019 AGM: Carers Trust - Brandon Scott-Omenka

The third presentation was from Brandon Scott-Omenka of the Carers Trust. Brandon explained that the Carers Trust is arranged into different areas, and therefore the services which are offered by the Carers trust in one area might be different from the services in a different area.

Brandon outlined that carers are people who provide care for another. Generally this would include adults caring for parents, relatives or siblings, but can also include children caring for adults or siblings, and parents caring for children. Carers can be any age, Brandon had examples of people aged between 6 and 96.

Caring may include:

  • Having an emotional burden of worry about the person being cared for
  • Needing to physically assist the person with their mobility
  • Spending time on caring activities, shopping (etc.)
  • Having relevant knowledge, medical and other, knowing medications, procedures (etc.)
  • Organising and attending medical/professional/health appointments (etc.)
  • Being and advocate for the person - assessments, health plans (etc.)

Carers can often find caring for another stressful, and many feel unable to cope. Often there are role reversals, and family relationships can breakdown. Sometimes children feel isolated or are bullied.

When seeking help there are also pressures on the healthcare system meaning that help may be delayed, restricted or not available. Sometimes the person needs to end up sooner in residential care.

Being a carer can be lonely and isolating.  New carers are often daunted or overwhelmed by the responsibility of providing the care. Carers also have to balance their own health, with some being exhausted, suffering from injuries or having their own health problems.

With support, these burdens on the carer can be reduced. The carers trust aim to provide support to help carers. This includes:

  • Emotional support - a listening ear
  • Befriending - linking carers with others
  • Carers assessments - helping to get access to support
  • Support group access and face to face support
  • Events and activities to give a break from caring
  • Providing information and advice
  • Training and workshops
  • Advice on future and contingency planning
  • Young carers clubs

Brandon said that there are often tears the first time a carer visits as it is the first time they are being asked how they are.

Link to Carers trust website: where you can find out more information.

The relevant legislation if you are in England is the Care Act 2014, with other legislation in other parts of the UK. ( Under the Act carers can ask for an assessment of their needs which runs in parallel with an assessment of the needs of the person being cared for. Decisions on planning about care should take the carers wellbeing into account.

Brandon offered two stats - the care provided by friends and family was worth £119billion in 2011, and the 6.8million people who provide unpaid care saved the state £132 in 2015. 

Friday, 30 August 2019

2019 AGM: HSP Cant Stop Me - Amber Meikle-Janney

The second presentation was from Amber Meikle-Janney, who is one of the Support Group members. She gave an interesting talk about her experiences skiing.

Amber is part of the GB parasnowski development team, and she entertained us with stories about her training, her races and how she skis. Essentially, Amber sits in a rig which is attached to a single ski, and she uses her weight and arms to be able to balance and turn the ski. You can read further details on Ambers ski-ing on her blog:

The point which I took away the most from this was not just Ambers excellence in skiing, but her determination to do what she wanted to do, when she wanted to do it. She has discovered an activity which she really enjoys, and she doesnt let HSP get in her way of doing this.

This approach was shown in the different videos which Amber included in her presentation, to start with Amber was seen turning and falling regularly, each time having another go. Over time it is clear that Amber has put a lot of practice in as in sucessive videos her skiing speed, balance and turning skills have improved, and this was further evidenced in the way which Amber described herself in each video, showing her confidence and her enjoyment from skiing.

This positive approach to life stands Amber in great stead, and she uses this approach throughout her activities. She concluded her presentation with a few examples of the other things which she gets up to, including developing her wheelchair skills so that she is able to get into as many places as she can and do what she wants to do when she gets there. She has also taken part in a range of outdoor experiences including boats, camp fires and hand cycles. She was also very pleased to show us a video of her latest wheelchair attachment - a motor, allowing her to effortlessly whizz along the road.

Amber is a great example of someone using a positive mindset to achieve what they want to do and having fun along the way. Excellent!

Wednesday, 28 August 2019

2019 AGM: What is HSP? - Rebecca Schüle

The first talk at the AGM was from Rebecca Schüle, from the University of Tübingen
 in Germany. We had asked Rebecca to attend the 2018 AGM, but there were various problems with flights which meant that she wasn't able to attend.

Rebecca began by giving a general description of HSP, reminding us that it is a group of diseases, all of which give rise to a spastic gait. HSP is an upper motor neuron disease - i.e. it affects the part of the nerve from the brain down into the spinal column. Upper motor neuron diseases are characterised by loss of voluntary muscle control, weakness, spasticity and clonus. There tends to be an increased stretch reflex. Where conditions affect the lower nerves the characteristics tend to be muscle atrophy, weakness, twitching and a decreased stretch reflex. HSP affects the longest motor neurons the most, so those affecting walking. After the discovery of HSP back in the 1800's, key work was undertaken by Anita Harding in the 1970's to 1990's. Anita identified that the types of HSP fell into two groups, one group with cognitive effects and one without.

Rebecca covered antispastic medication, and highlighted the need to get the right dose balance. It is difficult to get the right dose. The medication has both positive and negative effects. Positive effects include reduction in spasticity, pain, clonus and spastic jerks. Negative effects include muscle weakness, slowing down movements and reduced fine motor control and tiredness. There is a need to balance the positive benefits against the negative outcomes. 

Medical cannabis can have some benefits on muscles, but cal also make any depression worse.

Most people do too little exercise, and you cannot do too much exercise. In judging how much effort to put into exercise, if you take 2-3 hours to recover from the exercise that is good, but if you take 2-3 days to recover that is not good! Gait training can be good to help with instability. It is important to find exercises which you like doing, everything gets boring after a while.

For those thinking about surgery as a treatment, it is important to remember that HSP is progressive, and this needs to be taken into account in any decisions. What is right today may not be right in 15 years time.

Two thirds of people report bladder problems with HSP, which is sever in 5% of people and mild/moderate in about a third. There are good treatment options for bladder issues, which arise from the imbalance between the large bladder muscle against the small sphincter muscle.

Half of people with HSP report pain. Pain can arise from spasticity, arthritis, herniated discs or be neuropathic. Pain tends to increase as the gait changes and the loads on the muscles/joints changes.

Sensory Deficit
Half of people with HSP suffer from some kind of sensory deficit. This is often balance and co-ordination issues arising from changes in the sense of proprioception. Some (less than 10% get numbness or tingling. Some (30%) get ataxia which can affect coordination of upper limbs, speech and swallowing.  Less than 10% get cognitive effects which are more than just memory problems, and can affect the ability to solve problems, but this aspect has not been studies thoroughly to date.  

The Overall Effects of HSP
Some 10% of people start showing effects of HSP before they are 5 years old. The most frequent age for starting to show effects is 35-45. People who show HSP early tend to have a slower rate of progression than those who start to show symptoms later in life.

Half of people with HSP are still walking independently after 22 years of having HSP. After 37 years with HSP about one quarter of people use a wheelchair on a daily basis.

Those with a dominant type of HSP have a 50% chance of passing it on to the next generation, who would be affected. Those with a recessive gene have a 25% chance of an affected child if both parents carry the gene. Sometimes HSP is caused by a new mutation and neither parent has HSP.

If you know the type of HSP which you have then you are able to take these overall effects into account and know the chance of passing it on to the next generation. Overall it is expected that there are some 150-200 genes for HSP, and not all of these have been discovered yet. Many recently discovered HSP genes do not have a number. Some genes can be either dominant or recessive. The future may hold gene therapy for HSP.

European Reference Networks
HSP is covered be a European Reference Network (ERN). This network looks at how to manage HSP and has prepared management guidelines. Two main areas for treatment are drug re-purposing - i.e. finding an existing drug which can repair or compensate for a defect, and modifying the gene directly to repair the defect. No gene treatments are approved for HSP at the moment, but some are for similar conditions.

In terms of trials for all kinds of treatments there is a need to have a cohort of people with HSP who are willing to take part in the study. There is a need for national history studies to understand the population and help plan for trials.

With all treatments there is a need to be able to measure the benefit of the treatment. This could be done using a scale like the SPRS (Spastic Paraplegia Rating Scale) but could also consider a specific  scale for the area being tested.

Monday, 29 July 2019

UK HSP Support Group AGM

Firstly, it feels like a long time ago that the AGM happened, and I apologise for taking so long to get to writing about it. My next few blog posts will be about the different presentations which we had during the day. This post is about the AGM itself.

The AGM is the official part of the day. As a charity we need to have an AGM each year. The purpose of the AGM is straightforward - to report on the years activities, to approve the accounts and reports, and to elect the trustees.

Activities as usual:

  • Welcoming new members to the group
  • Meetings
  • Member and researcher grants
  • Newsletters
  • Website and social media

New activities in the year:
  • New Constitution (voted in at 2018 AGM) accepted by charities commission
  • New Mission Statement written
  • Update to website is in progress
  • Links to other groups/charities – Initial steps made
  • Research – New grant application form for researchers to complete
  • Starting to formalise committees to allow people to help more easily
  • Group now covers regional meeting costs
  • Contributed to consultation on medical cannabis
  • Contributed to physical activity in rare conditions collaboration
  • Contributed to EuroHSP
So, overall it has been a busy year!

I also talked to many people there about helping the group, particularly around getting people to consider becoming trustees for the group, and more generally around helping in other ways. If there are any readers who would like to help, please read this blog post: from a month or so ago.