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Condition update: Huntington’s



UCL neuroscientist John Hardy hailed “the biggest breakthrough in neurodegenerative disease in the past 50 years” in December.

Researchers had successfully used an experimental drug, injected into spinal fluid, to safely lower levels of toxic proteins in the nervous system caused by the disease.

In Huntington’s terms, it was the biggest story since the 1993 discovery of the gene which triggers the disease.

The mutant ‘Huntingtin’ disease gene which causes Huntington’s contains instructions for cells to make a toxic protein.

This code is copied by a messenger molecule and dispatched to the cell’s protein-making machinery.

Researchers last year found that a drug called Ionis-HTTRx intercepts the messenger molecule and destroys it, effectively silencing the effects of the mutant gene.

While the breakthrough has clearly energised people on the front line of Huntington’s care, its translation into a widely-available treatment could take years.

In the meantime, work continues to increase awareness of the disease and improve its management and diagnosis.

Here Ruth Abuzaid (pictured), head of service development at the Huntington’s Disease Association, provides an update on
the condition.

NRT: Was last year’s discovery really the game-changer it was billed as?
RA: Since the gene for Huntington’s disease was discovered in 1993 there have been many trials looking at what we can do to slow down the progression of this disease. Until now, however, nothing has been found that can do that.
The big breakthrough last year was a pharmaceutical trial of a Huntingtin-lowering drug. It has now been trialled in people in the early stages of the disease and it has been shown to be safe and to lower the levels of the mutant huntingtin that leads to Huntington’s. So yes, it is really exciting news for our community because it is the rst step on the pathway to something that could slow down the disease.

How long until we have a treatment on the market and accessible to all?
Things are certainly moving in the right direction. The pharmaceutical firm Roche has licensed the drug and will be responsible for its ongoing development. Obviously for a company to invest in something like this is really exciting. We know the drug lowers the amount of mutant Huntington which causes the symptoms. What we don’t yet know is what effect it will actually have on
the symptoms themselves.
It could be another seven or eight years until we can truly conclude whether this has been a therapeutic success.

How many people are affected by Huntington’s currently?
It’s really difficult to get accurate numbers because people may live with the disease for a long time without presenting to a medical professional. Partly that is because quite a lot of people are in denial of the disease. In fact, the changes that Huntington’s influences on the brain can actually lead this denial.

We estimate that around 12.3 per 100,000 people in the UK have Huntington’s which amounts to around 8,000 people. Recently we’ve seen an increase in people being diagnosed with the condition.

Firstly, this is because people are living longer – so we are picking up people now who don’t start to show symptoms until their eighties, for example. 
Usually the disease starts between the ages of 30 and 50, but sometimes its younger and sometimes older.
Secondly, we’re getting better at diagnosis.
In the past there was quite a lot of misdiagnosis.

Do we know why the disease is passed on through generations?
It’s through what we call a genetic stutter. The ‘CAG’ part of the standard genetic code is repeated. If the number of repeats reaches a certain level, the disease is extended to that person.

But there are also new mutations of the disease?
When mutations seemingly come out of the blue it is normally because people don’t know their family history. Perhaps someone was adopted or their father isn’t who they thought they were. Also, their parents might have been wrongly diagnosed with Parkinson’s or died before the disease symptoms arose.

It could also be that the parent had a fairly long CAG repeat that hadn’t quite reached the Huntington’s threshold. A slight increase in the next generation could put that person at risk of the disease.

Until the recent promising research turns into treatments, what is the outlook for people with Huntington’s?
Life expectancy once people start showing symptoms is quoted as 15 to 20 years, but it
is a very slowly progressive disease. There
is medication which can help to manage
the symptoms, and make a big difference to quality-of-life. If patients are able to tap into the correct teams and the right resources – and have a good care package around them – that can make a huge difference. So too does having carers who are educated in the disease and understand how to adapt to the patient’s behaviour to make their life easier.

How does the disease affect people’s quality of life?

Everyone with Huntington’s is likely to
see some change to their physical ability, emotional well being and behaviour. The classic symptom of Huntington’s is large involuntary movements, but some patients might actually have very little movement. For most people, their pathway through the disease will be one where they ultimately can’t walk, talk or swallow, and they need full- time nursing care.

On the behavioural and emotional side, it can vary greatly but there are some common themes such as cognitive ability slowing down and finding it harder to make decisions. Others will have extreme mental health issues.

Beyond the UCL trial, are there any other emerging drug treatments?
Currently Tetrabenazine is the only medication approved in the UK for Huntington’s disease specifically.
Other than that, there are the common treatments for associated problems such as depression and anxiety.

Are more people becoming aware of the symptoms or risk factors of the disease?
We are seeing a generation coming through which behaves in a different way, interacting with the world through social media and keen to get rid of the stigma of the disease.

There is a stigma to Huntington’s because it has behavioural and mental health aspects and there might be psychiatric implications. So, in the past, people have hidden away. Younger generations are saying “hang on, we want to make a difference and be open about Huntington’s”.

Because of this, more people are going to medical professionals earlier.

Has the recent research breakthrough also helped to spread awareness of the disease?
Because there is now a potential disease- modifying treatment, we have seen a sudden increase in people contacting us and going to genetic counsellors.

If your parents have the disease, then you have about a 50-50 chance of getting it and you can take a predictive test at age 18 and above.

To date, many people have lived with the Huntington’s risk without getting tested. For many people, there was a sense of “what difference would that make in my life? There is nothing to stop me getting this, so it’s best if I don’t know”.

But now we are seeing a surge of people saying “if this disease modifying therapy is coming on the market, I want to be ready and waiting for the next stage of trials”. Some clinics are putting on extra sessions at the moment and those people that were always in the “at risk” category are coming out of the shadows.

What about children whose parents carry the gene?
A parent can’t get the child tested for Huntington’s because it’s an adult onset disease and it’s the individual’s choice to know whether or not they have it. When they reach 18 they can then make the decision to take the test.

It’s a fairly lengthy process, usually involving at least three sessions of genetic counselling, before they take the gene test. Normally that test would give you a direct answer of “yes you’re going to get it in the future” or “no you are not”.

It can’t tell you when you are likely to get the disease. A lot of people tend to take the test when they come to think about having children.

Finding out you will develop Huntington’s must be devastating. How do people cope?
It is incredibly difficult to deal with. For a number of years now we’ve been running a young adult conference for people aged 18 to 35 which talks about things like testing, having children and coping mechanisms.

One of the hardest things for people with the disease is the fact that it’s so rare. In the past, people would probably go through their lives and never meet anyone outside their family that had the condition.

A massive part of our work as a charity is trying to bring people together. Now through social media and the internet, this is a lot easier. Huntington’s is also a difficult disease to describe because it can present itself 
in many different ways.

Most people with Huntington’s are likely to be the only person on their GP’s caseload with the disease.
Every time they see a professional, like a therapist, physio or OT, they are unlikely to have dealt with other people with the disease. The individual must start afresh each time, explaining their situation.

What are the financial implications of Huntington’s diagnosis?
Since Huntington’s goes from generation to generation in the same family, a lot of our families unfortunately live with a certain level of poverty or at least struggle to make ends meet. People might have given up work to take on carers responsibilities generation after generation.

Unlike a brain injury patient, for example, whose care might be supported by compensation funds, Huntington’s patients tend to rely heavily on NHS and social care.

Given current challenges in the NHS, are Huntington’s patients getting access to the care they need?
The most challenging area in terms of support for people with the disease is mental health. Some people with Huntington’s have very severe mental health needs and it’s really difficult to get them into services.

Quite often they’ll be bounced around between physical disability-related and mental health services. One of our key roles as a charity is empowering health and social care professionals to play their part in supporting people with the disease.

Counselling can be really, really beneficial but is something that is lacking as a whole, across the country. As a charity, we seem to be picking up a lot of the pieces because statutory services are dropping away.

Is there a growing number of specialist centres for Huntington’s patients?
Specialist clinics tend to crop up where there has been special interest from a neurologist or clinical team.

They work fairly individually but provide an essential service to people with Huntington’s. The growth of this network of clinics has been aided by a greater push for research in recent years.

This is largely through the Enrol-HD, a global observational study for Huntington’s families which links into specialist clinics. We try to encourage people to sign up because they are then tracked along the way.

Access to specialist clinics is limited in some parts of the country and more coverage 
is needed.

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Taking time to look back – so the way ahead is clearer



Reflective practice within healthcare settings is widely talked about, but not always so easy to implement in the workplace. NR Times speaks to one neurological centre about how it benefits patients and staff there.

Reflective practice and discussion in healthcare settings is a professional requirement for nurses, as laid out by the Royal College of Nursing revalidation requirements as part of their continuous professional development.

It allows professionals to take time to pause and reflect, communicate and plan, which undoubtedly leads to better outcomes for patients and staff.

But in reality, reflective practice can often be left to the bottom of the pile, underneath many of the competing responsibilities facing staff who are often pressed for time.

It could be argued that this is also why reflective practice is so important – healthcare staff are facing so many pressures that it actually makes less sense to neglect the important work of individual and team reflection.

The Royal College of Nursing defines reflective practice as: A conscious effort to think about an activity or incident that allows us to consider what was positive or challenging and if appropriate
plan how it might be enhanced, improved or done differently in the future.

Staff at Elysium St Neots Neurological Centre in Cambridgeshire started doing regular, weekly reflective practices when its new hospital director, Fiona Box, came into the role a few months ago.

The nurses and healthcare assistants from a ward are invited into the meetings and in their absence the therapy staff monitor patients and provide activities.

“We thought it would be helpful for team members to give them the opportunity to think, learn, and to hear their opinions,” says charge nurse Jemima Vincent.

“If we have an incident with a patient, we discuss it in the session” she says.

Sessions are led by the management team, with added input from psychology teams on each ward.

They will talk through any strengths, weaknesses and opportunities, and work through an analysis to learn from the incident and create an action plan.

They talk about the worst-case scenario in relation to an individual situation and discuss how staff would manage that, so they’re better prepared in the event of it happening.

While they focus on one patient at a time, issues arise during conversations that bring in their wider experiences.

In an article* published in the Nursing Times in 2019, Andrea Sutcliffe, chief executive of the Nursing and Midwifery Council said: “In these challenging times for health and social care, it’s so important that collectively we do all we can to support our health and care professionals, and their employers, in devoting time to individual, reflective, personal and honest thinking.”

Fiona has received encouraging feedback from staff, who say the meetings help the staff feel much more involved in a patient’s care and allow the team to increase their knowledge and understanding resulting in a more consistent way of working.

“Healthcare workers often don’t fully understand patients’ diagnoses or why they’re reacting in a certain way, for example,” Jemima says.

“They know a patient presents with certain behaviours and may be taking medicine to help them cope but they’re not aware why the patient is showing signs of aggression and the best response to deescalate the situation,” she says.

“It’s a learning opportunity for staff, because reflective practice means that they can understand a patient’s diagnosis and why they behave how they do,” Jemima says.

“Reflective practice answers their ‘why’ questions, and gives them a more open mind.”

Jemima also benefits from the meetings; it’s a way for her to get to know staff better, especially when it comes to learning opportunities.

“I’m able to understand what level of support each member of the team requires, including training needs and if they need more knowledge on a specific topic.”

In her final year as a mental health nurse student on extended clinical placement at Elysium St. Neots, Jo took part in a reflective practice session.

She had just finished her dissertation, in which she looked at how settings can increase the opportunities and variety of reflective practices within hospital settings.

The aim of Jo’s session was to reflect on the recent deterioration in a patient’s mental state and the resulting impact on their well-being to ensure staff had a consistent approach to support the patient.

The hospital’s director Fiona asked the team about the patient’s care plan, diagnoses and needs and wishes.

Where staff were unsure of the answers to questions, Jo says Fiona gave them answers and encouraged the team to share their knowledge of the patient, problem solve and come up with an agreed plan to move forward with.

Jo found the session helpful and was impressed with how the healthcare assistants were so involved in the discussions about all aspects of the patient’s care, including the more clinical elements.

Healthcare assistants told her they found the session helpful too and that it made them feel like they had a better understanding of the patient’s changing mental state, behaviours and needs.

Jo says having the opportunity to reflect on practice is a crucial skill for all healthcare workers to help them learn from their experiences and increase self-awareness, which, in turn, can improve individual professional standards, strengthen teams and enhance patient-centred care and clinical outcomes.

For referrals to Elysium St Neots Neurological Centre or other Elysium centres visit:

Reference source: professional-regulation/nmc-highlights-importance-of-nurses- reflection-on-practice-18-06-2019/

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Robots and resilience at Askham Rehab



NR Times reports on a new rehabilitation approach taking place in Cambridgeshire.

Despite a year of relentless change and upheaval for all involved in neuro-rehab, one provider in Cambridgeshire has been able to keep its ongoing development on track.

Askham Rehab, part of the Askham Village Community, is a recently-launched specialist rehabilitation service incorporating the latest in rehab robotics and sensor assisted technology.

While the firm has invested in state-of-the-art technology to do the heavy lifting, however, its rehab services remain person-centred, as director Aliyyah-Begum Nasser explains.

“We’re a specialist rehab centre in essence, and so, although the robotic technology helps us to get the most out of our patients and staff, we are very much family-focused.

The equipment is obviously fantastic but we know from experience that a person’s mindset, and their ability to sustain whatever improvements they make, comes down to the people who are supporting them – their family members.

“We’ve been on some real journeys with many of our family members who just didn’t understand the impact of a brain injury in terms of how it can impact behaviour or what it can do for cognition.

“Once they understand that, suddenly they become a lot more compassionate, and a lot more supportive; they become part of the recovery process, rather than being a frustrated observer.”

With recognition of the family’s paramount importance to recovery, Askham Rehab does everything within its power to harness this force – including by enabling families to stay together in specially-designed apartments on site.

Aliyyah-Begum says: “The flats are fully adapted, with cantilever cupboards, height-adjustable sinks in the bathroom and full wet room with turning spaces.

“We have the patients themselves participating in rehab, specifically to their programme, but relatives are also there from the beginning, seeing the improvement and being part of our process from the outset.

“We think of the centre as more of a rehab environment; it’s not a just care home with therapy as an added extra.

“So from the minute our patients wake up to the minute they go to bed, everything is based around their recovery goals, and everyone is working together towards achieving them.”

And robotics are an important tool in pursuing these goals through patient exercise. They help therapists to achieve the repetitions and intensity needed to progress their clients, as Aliyyah-Begum explains.

“The point of the robotics is that they respond to the patient. For example, if you set the machine on a left lower limb, but it senses that there is more pressure being exerted through the right limb than the left, it will automatically respond to make sure the patient is moving the correct part of their body.”

The centre’s head of rehab and nursing, Priscilla Masvipurwa, says: “This is a real a game changer in our approach to rehabilitation.

“Robotics help to bridge the gap, increasing the frequency and repetitiveness of treatment, something that’s an essential part of the process.

“We anticipate that this will enable us to support our patients in reaching their goals in a more efficient and sustainable way.

“The centre has so far invested in four items from robotic rehabilitation firm Tyromotion, but is looking to add more over time, as the benefit to both staff and patients becomes ever more evident.

Aliyyah-Begum says: “It’s really important to the team at the centre that the robotics aren’t just seen as an add on.

“There is a lot of nervousness about robots replacing therapists, but our service is still very much therapy-led.

“What this means in practice is that, where a resident would previously have had maybe an hour of therapy time in an afternoon, now you have an hour of therapy time, and then you can carry on exercising if you want to, or carry on playing games with other residents.

“For example, one of our machines, the Myro, enables patients to play games like bat and ball, or perform virtual tasks like sweeping leaves.

“However, because it is all sensor-assisted, if it senses that the patient needs to work a certain hand, it will alter what it is asking them to do accordingly, while they won’t even necessarily feel they’re having therapy – it’s all part of the game, and part of their socialising with other residents.”

Askham Rehab forms part of the Askham Village Community, on the edge of Doddington village, in Cambridgeshire.

It provides specialist care for people of all ages, offering day visits, respite care and continuing long-term support, both on-site or at home.

The site consists of five homes, three of which are specialist neurological facilities. In total, the neuro-rehab team can look after up to 52 patients at any one time, with 120 staff made up of rehab professionals and specialists.

The team comprises carers nurses, physiotherapists, occupational therapists, speech and language therapists and psychologists.

Aliyyah- Begum believes that the introduction of the robotic rehab services, combined with the patient-led therapy the group has been offering for 30 years, can only enhance the centre’s outcomes.

She adds: “We know that there is an increasing number of care homes that offer specialist therapy, but the difference with Askham Rehab is that we have embedded it into the whole culture of our setting – and the outcomes really speak for themselves.

“We often discharge people earlier than planned, and that’s a testament to the fact that the patients are really working hard with the team throughout their stay with us to achieve their goals – and that is the key.”

For more information about Askham Rehab, visit

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Astrocytes identified as master ‘conductors’ of the brain



In the orchestra of the brain, the firing of each neuron is controlled by two notes – excitatory and inhibitory – that come from two distinct forms of a cellular structure called synapses.

Synapses are essentially the connections between neurons, transmitting information from one cell to the other. The synaptic harmonies come together to create the most exquisite music–at least most of the time.

When the music becomes discordant and a person is diagnosed with a brain disease, scientists typically look to the synapses between neurons to determine what went wrong. But a new study from Duke University neuroscientists suggests that it would be more useful to look at the white-gloved conductor of the orchestra – the astrocyte.

Astrocytes are star-shaped cells that form the glue-like framework of the brain. They are one kind of cell called glia, which is Greek for “glue.” Previously found to be involved in controlling excitatory synapses, a team of Duke scientists also found that astrocytes are involved in regulating inhibitory synapses by binding to neurons through an adhesion molecule called NrCAM. The astrocytes reach out thin, fine tentacles to the inhibitory synapse, and when they touch, the adhesion is formed by NrCAM. Their findings were published in Nature on November 11.

“We really discovered that the astrocytes are the conductors that orchestrate the notes that make up the music of the brain,” said Scott Soderling, PhD, chair of the Department of Cell Biology in the School of Medicine and senior author on the paper.

Excitatory synapses — the brain’s accelerator — and inhibitory synapses — the brain’s brakes — were previously thought to be the most important instruments in the brain. Too much excitation can lead to epilepsy, too much inhibition can lead to schizophrenia, and an imbalance either way can lead to autism.

However, this study shows that astrocytes are running the show in overall brain function, and could be important targets for brain therapies, said co-senior author Cagla Eroglu, PhD, associate professor of cell biology and neurobiology in the School of Medicine. Eroglu is a world expert in astrocytes and her lab discovered how astrocytes send their tentacles and connect to synapses in 2017.

“A lot of the time, studies that investigate molecular aspects of brain development and disease study gene function or molecular function in neurons, or they only consider neurons to be the primary cells that are affected,” said Eroglu. “However, here we were able to show that by simply changing the interaction between astrocytes and neurons — specifically by manipulating the astrocytes — we were able to dramatically alter the wiring of the neurons as well.”

Soderling and Eroglu collaborate often scientifically, and they hashed out the plan for the project over coffee and pastries. The plan was to apply a proteomic method developed in Soderling’s lab that was further developed by his postdoctoral associate Tetsuya Takano, who is the paper’s lead author.

Takano designed a new method that allowed scientists to use a virus to insert an enzyme into the brain of a mouse that labeled the proteins connecting astrocytes and neurons. Once tagged with this label, the scientists could pluck the tagged proteins from the brain tissue and use Duke’s mass spectrometry facility to identify the adhesion molecule NrCAM.

Then, Takano teamed up with Katie Baldwin, a postdoctoral associate in Eroglu’s lab, to run assays to determine how the adhesion molecule NrCAM plays a role in the connection between astrocyte and inhibitory synapses. Together the labs discovered NrCAM was a missing link that controlled how astrocytes influence inhibitory synapses, demonstrating they influence all of the ‘notes’ of the brain.

“We were very lucky that we had really cooperative team members,” said Eroglu. “They worked very hard and they were open to crazy ideas. I would call this a crazy idea.”

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