Information - Huntington's Disease (HD)

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AHDA Qld Inc

Newsletter Sep 2002

In This Issue

PRESIDENT'S MESSAGE

Dear Friends,

My message in this Newsletter is to highlight the issue of fundraising and to encourage you to consider the importance of raising funds to continue the work of the Association. Some of you do very well in supporting the fundraising initiatives planned by the Management Committee, however we would really appreciate not only the financial support but also the moral support required to successfully achieve the desired outcomes. Participation in advertised fundraising activities is paramount if we are to continue to grow in our service provision to families.

We have a new Committee member, Sarah Wallwork, who is really keen to increase awareness and elevate the level of fundraising, so let's get behind her and successfully increase our income and improve community awareness.

November 1st to 7th represents HD Awareness Week in Queensland. To launch the week we are hosting a morning Seminar for interested professionals. Guest speakers include - Dr. John O'Sullivan, Brisbane Neurologist; Karen Keast, NSW Dietitian; Alison Anderson, NSW Speech Pathologist; Vonnie Mullens, Charge Nurse in a Brisbane Behaviour Support Unit; and Jan Hannah-Munster our new Welfare Officer.

Other activities for the week include- a "Melbourne Cup Night" (a fundraising event) which will be an evening of lots of fun; and an Awareness Walk is also planned for Sunday the 3rd November. Look for further details in this Newsletter.

It is with understandable regret that we acknowledge Dr. Joan Lawrence is reducing her work load and is resigning from some of her commitments. Dr. Lawrence has played a major role from the early days of this Association, and I offer our thanks and appreciation for the time and effort she has provided. Joan, we wish you health and prosperity and look forward to sharing social occasions with you in the future.

Gerry Doyle
President

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FROM THE WELFARE STAFF

Since we last went to print, we have welcomed Jan Hannah-Munster to our Welfare ranks. Jan is employed full-time and has taken on her role with confidence and enthusiasm. Jan will introduce herself to you in this publication.

Kellie Chenoweth is now working 3 days per week and by now many of you would have met both of these team members. We are confident that the "settling in" period is behind us, and we are now offering an extended service to family members.

During the last 4 months the Welfare staff has worked in Charters Towers, Townsville, Cairns, Rockhampton, Mackay, Toowoomba, Kingaroy, Nambour, Maleny, the Sunshine Coast and the Gold Coast districts plus the Brisbane, Ipswich and Caboolture/Peninsular areas. We really are doing our best to provide a quality state-wide service.

Kellie, Cliff Farmer and myself facilitated a three-day Respite Holiday for 8 men at Bribie Island during July. Some of the feedback included comments such as "great tucker and plenty of it", "good fun but not long enough", "terrific company and mateship", "competitive uno and scrabble games" to name but a few. We enjoyed walking on the beach, playing cricket, visiting the Historical Village in Caboolture and sharing of domestic chores.

Keep well my friends, and as always if there is anything with which we can assist you, please call one of the Welfare staff at the Brisbane office - phone 3391 8833. Kind regards,


Gwen Pratten
Welfare Coordinator


Hi; my name is Jan Hannah-Munster and I started as the new Welfare Officer at QAHDA three weeks ago. I have a nursing and education background and have worked in community settings as a Public Health Nurse, a School Nurse and as a Medical and Nursing Education Coordinator. Within the hospital setting, I worked in general, midwifery and psychiatric areas. My main focus in my nursing career has been on health promotion and assisting people to maintain their independence and ability to make decisions about their health care for as long as they are able. I feel this focus will fit well into the work I will be involved with at the QAHDA office.

My interest in HD was first sparked in my initial placement as a student nurse where I was allocated two brothers in their early twenties with mid-stage HD. Being a keen student I researched the condition and wrote my first clinical assignment based on a care plan for these young men. I am pleased to say that reviewing this study twenty years later I had devised a plan which allowed for the individual needs of the brothers to be expressed, and hopefully met.

I have already met some of the HD families in Queensland and am impressed by their courage and ability to laugh at life despite the sometimes onerous burdens of this disease. The friendly staff at the centre has certainly made my introduction to this new area very easy.

I look forward to working with you all.


Jan Hannah-Munster
Welfare Officer

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Courage

It's following your own heart, living your own life, and settling for nothing less than the
best for yourself.

Courage is daring to take a first step,
a big leap or a different path;
It's attempting to do something that
no one has done before and all others thought impossible.

Courage is keeping heart in the face of disappointment and looking at defeat, not as an end, but as a new beginning.
It's believing that things will ultimately get better even as they get worse.

Courage is being responsible for your own actions and admitting your own mistakes without placing blame on others;
It's relying not on others for your success but on your own skills and effort.

Courage is refusing to quit even when you're intimidated by impossibility;
It's choosing a goal, sticking to it
and finding solutions to the problem.

Courage is thinking big, aiming high
and shooting far;
It's taking a dream and doing anything,
risking everything
and stopping at nothing to make it a reality.

Reprinted ARAFMI News - August-October 2002

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UNDERSTANDING CHALLENGING BEHAVIOUR IN HUNTINGTON'S DISEASE

By Julie Snowden
Cerebral Function Unit, Greater Manchester Neuroscience Centre,
Hope hospital, Salford, M6 8HD, UK.


The need for recognition of problem behaviours

Changes in behaviour are a central feature of Huntington's disease (HD), which arise because of physical changes in the affected person's brain. Behavioural changes are often the most distressing part of the condition and create the greatest challenge for carers. Nevertheless, they have been relatively neglected by medical professionals and researchers and are often poorly understood. One reason is that they are less obvious than involuntary movements and may not be apparent during the brief period of a clinic visit. Moreover, problem behaviours are most likely to occur in the home and to be directed towards those family members and carers to whom the person with HD is closest, not towards relative strangers. Thus, behavioural problems are likely to be underestimated by outsiders.

Health professionals are, however, at last beginning to realise the enormous impact on families of behavioural symptoms. If new treatments for HD are to be successful they will need to benefit the behavioural aspects of the condition as well as the movement disorder, which means that it is increasingly important that we should understand why those behavioural changes occur. So how can we unravel the different components of behaviour?

HD is often said to give rise to a triad of symptoms: a disorder of movement, together with changes in intellect and in mood. Both the intellectual and the mood changes are likely to contribute to how a person behaves. How people behave reflects the way that they think (cognition) and how they feel (emotions). To understand HD behaviour it is necessary to understand how the structural changes in the brain alter both thinking and emotions.

Cognitive changes in HD are specific and predictable

The cognitive changes in HD are very often described as a dementia. Usage of the term dementia is unfortunate since it is very often taken to mean a generalised impairment, the implication being that mental abilities are impaired in a global and diffuse way. People with HD do not have global intellectual impairment. There are good reasons why that is so. Degenerative diseases that affect the brain, such as HD, do not damage the entire brain in a non-specific way. Rather they preferentially damage and disrupt the function of certain parts of the brain, while other parts of the brain continue to function well. Since different parts of the brain serve different functions, the type of mental change that a person has will be characteristic for a particular disease and will be governed by the regions of the brain preferentially involved. Thus, mental changes are both specific and predictable.

Brain changes in HD

HD particularly affects deep structures within the brain, known as the striatum, which are important for the control of movement. These deep structures have connections to the cerebral cortex (the outer covering of the brain) and in particular to the front parts of the brain (frontal lobes). Many of the cognitive changes in HD are a direct result of impaired functioning of these specific brain circuits, which link the striatum to the frontal lobes.

Functions of different brain regions

So what do the different parts of the brain do? The more posterior parts of the brain are important for making sense of what is perceived through the senses. They are important for processing visual information and being able to recognise what one sees: for example, recognising that a chair is a chair, and knowing whether two chairs look the same or different. The posterior parts of the brain are important too for processing auditory information: in converting sounds of words into meaning. Thus, they are necessary for recognising that the sound d-o-g refers to the four-footed animal that barks and not, for example, to the bird that flies in the sky or the fish swimming in the sea. The ability to process and interpret what is perceived through the senses can be thought of as the tools or building blocks of thought. These building blocks, which provide the foundation of cognition, are preserved in HD. They may, however, be impaired in other brain disorders. A person who has Alzheimer's disease or who has had a stroke may have difficulty recognising objects and other visual stimuli. They may also have difficulty understanding what words mean. The reason is that those conditions can affect the parts of the brain important for these fundamental information processing skills.

If the posterior parts of the brain are important for the tools of thought, for recognising what we see and hear, what is the role of the anterior (front) parts of the brain, which are damaged in HD? The front parts are the "captain of the ship". Imagine on a ship there are a variety of instruments, used for navigation and for communication. They are like our instruments or tools of thought. However, even when those instruments are all in working order, the ship does not function on its own. It needs a captain to plan and organise the journey, to attend to the instrument panels and communication systems, abstract out relevant information and ignore what is not relevant, to check incoming information and to have the flexibility to alter a course of action if circumstances change. The captain has a supervisory function, in regulating and controlling what happens. The front parts of the brain are important for those same functions and they are sometimes referred to as the executive or supervisory system of the brain. These regions are necessary for planning, forward-thinking, goal-directed behaviour, for the ability to organise behaviour, attend to what's relevant and ignore what is not relevant, to monitor and check performance, and to adapt behaviour to altered circumstances and different social situations. It is in these areas of cognition that people with HD have particular difficulties.

Clinical assessment of cognitive skills

People who attend an HD clinic may sometimes be asked to undergo psychological tests. The tests typically tap a range of cognitive abilities and are designed to identify the sorts of difficulties in thinking that the person has. This information is helpful both in understanding the person better and in monitoring change. As new treatments for HD become available it will increasingly become essential information for evaluating the benefits of those treatments. It is by means of these cognitive tests that it has been possible to identify the characteristic pattern of difficulties in people with HD: the problems in planning, structuring and organisational skills, in attention and attentional switching, and in mental flexibility.

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The Impact of cognitive change on Behaviour

Initiative and Drive

The ability to plan and think ahead is an important motivator of behaviour. We think of tasks that need to be done and why we should do them now. That is, we are stimulated into action. Since the capacity for forward thinking is impaired in HD, it means that people with HD become essentially passive. They react to things that happen, but do not actively initiate activities. They are reactive but not proactive. One common characteristic is that people with HD may seem content to do nothing. If left to their own devices, they might lie in bed all day or sit watching television. This can, of course, be exasperating to a busy partner, who may resent the fact that all duties and responsibilities fall on them. However, the person with HD is not being lazy. The brain changes in HD mean that there is a loss of drive and initiative, so that the person cannot self-motivate. The stimulus needs to come from outside rather than within. Doing tasks together can be helpful since the activities of the partner acts as a stimulus to the person with HD.

Thinking ahead

The ability to think forward means that we sacrifice short-term rewards for longer-term goals. An obvious example is that young people study for exams even though they would prefer to be socialising with friends, because they think that it will be beneficial to their future prospects. We don't, as a rule, spend all our monthly salary on an expensive luxury, because we know that we will need money to buy food over the next month. That is, we are able to see the future consequences of a course of action and we modify our behaviour accordingly. If the capacity for thinking forward is lost, as in HD, then the person does not see future consequences, and behaviour is governed much more by immediate needs and desires rather than longer-term goals. The person with HD may seem to want "immediate gratification". The person is not being deliberately demanding. It is just that they are no longer able to think long-term.

It is important to recognise this characteristic because it has implications for our interactions with people with HD. Imagine, for example, that a friend invites you to go shopping that afternoon, and that you answer "no". There may be multiple reasons influencing your decision: you do not want to be in crowded stores on a fine day, you are saving for your holiday and do not want to be tempted to spend money, you ought to attend to tasks at home. There would be no point in your friend inviting you again after ten minutes, because all those reasons would still apply. For someone with HD, the response "no" may be much more short-term. It may mean that the person does not feel like moving from their chair at that moment, or wants to continue watching the current television programme. In ten minutes the situation could change. It is not that the person with HD is being awkward or fickle. It is that decisions are based much more on immediate than long-term considerations.


Organisational Skills

Our activities involve organisation and ordering. In the office, we might, for example, file away papers relating to one task, before getting out of the filing cabinet papers relating to another task, so that the two sets of material do not become muddled. We prioritise things that we need to do so that we can meet deadlines. People with HD have difficulty with organisation and sequencing, so that their performance can often seem disorganised. This can represent a problem in the early stages of HD when people are still at work. The person with HD will not have forgotten how to do their job, but performance may be lowered because of difficulty in organising the work efficiently.


Attention

People with HD have difficulty doing two things at once. Many of the things that we do each day that we take for granted involve coping with multiple tasks simultaneously. For example, when driving a car, we carry out the mechanics of driving, whilst also attending to road signs and conversing with a fellow passenger. We carry out these tasks as relatively automatic routines. To understand the difficulty encountered by people with HD, think back to the experience of being a learner driver. You may remember a time when you needed to concentrate so much on the mechanics of driving, such as steering, changing gear and signalling, that you did not notice road signs and traffic. You may have found it difficult to hold a conversation while driving. That is, your attentional resources were overloaded. The situation is similar in HD. Activities that we take to be relatively automatic, such as walking and talking require more conscious attention for people with HD, so their attention system is easily overloaded.

Aside from overload, there is another reason why people have more difficulty carrying out two tasks: difficulty in switching of attention. Under normal circumstances, one of the reasons that we are able to deal with multiple tasks, even those that require conscious attention, is that we can switch attention between tasks. We can, for example, switch attention momentarily away from a television programme in order to answer a question and revert back to the programme without difficulty. A person with HD has difficulty doing so. The practical implication is that people should try to avoid where possible placing multiple simultaneous demands on someone with HD. One thing at a time is best. It is worth keeping in mind that tasks that seem easy to us, such as answering a question while watching television may actually be difficult for someone with HD.

Self-monitoring and awareness

People with HD have difficulty in monitoring and checking aspects of performance, so they may not be aware of errors that are apparent to others. The impression given to an employer when someone is in the early stages of HD may be that the person has become careless. That is not the case. It is simply that the person is no longer able to carry out efficiently the monitoring procedures that would keep errors in check. It is worth bearing this difficulty in self-monitoring in mind when individuals with HD declare that there is nothing wrong with them. They may genuinely be unaware of the changes that are so evident to others.

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Mental flexibility

Loss of mental flexibility means that people with HD may seem rather rigid in their behaviour. They may like their own routine, and seem unwilling to try anything new. They may seem poorly adaptable to changed circumstances and new situations. From a management point of view the implication is that changes, wherever possible should be introduced gradually. It is better that the person with HD is told of prospective changes in advance and has time to get used to them rather than have them imposed abruptly.

HD patients have difficulty seeing things from alternative perspectives. This inevitably has an impact on inter-personal relationships. The person with HD may sometimes seem thoughtless and selfish. However, they are not being intentionally uncaring. To have sympathy or empathy with other people one needs to be able to see things from the other person's point of view, to appreciate the other person's own needs and feelings. In HD the brain changes may prevent them from seeing things from another perspective and appreciating the needs and feelings of others.

Mood changes in HD

There are a number of emotional changes that may occur in HD. People with HD may show irritability and feelings of anxiety and agitation. They may be emotionally volatile, seeming to flare up and losing their temper for no apparent reason. Depressive symptoms may also occur. In the later stages of HD people may show emotional blunting, with a loss of the emotional warmth and range of emotional expression that they demonstrated before they became ill. One can think of these mood changes as separate from the cognition-based behavioural changes described above. Nevertheless, it may well be that there are interactions between the two. Suppose for example that a person with HD loses his/her temper when asked a question while watching television. The person is showing the volatility and loss of emotional control which are mood-based changes of HD. However, the person is being asked to do something that is actually rather difficult for someone with HD - switching attention from one task to another. The feeling of irritability might stem from the fact that the person finds it hard to switch attention efficiently away from the television to the conversation at hand and then back to the television. It is easy to interpret emotional outbursts in people with HD as 'out of the blue' or 'over nothing'. It is worth bearing in mind that what may seem trivial to us may actually be a difficult task for someone with HD. It may be that cognitive demands are being placed on the person with which he/she is unable to cope and that this is the basis for the outburst. Regardless of the cause, it is better to avoid confrontation in response to an outburst. It can be difficult for people with HD to see another person's point of view and to follow their reasoned argument even during periods of calm. They will certainly have difficulty doing so during periods of high emotion.

The frequency of behavioural problems in HD

Behavioural changes vary in severity in different people. For some people they may pose few practical problems, whereas for others they create major problems in management. Also, some behavioural problems are more common than others. We have developed in Manchester a questionnaire of Problem Behaviours for use with HD patients and their carers. The questionnaire taps a range of aspects of behaviour, including drive and initiative, quality of task performance, the ability to persevere on tasks, judgement, self-care, thoughtfulness towards others, mental flexibility, social awareness, emotional warmth, temper control. We found that some behavioural changes are reported very commonly: in up to 80% of people who attend our regional HD clinic. These symptoms include loss of drive and initiative, reduced efficiency of task performance, impaired judgement, mental inflexibility and self-centredness. Since many of the people who attend the clinic are still in the early stages of HD, the high frequency of those symptoms suggests that they are likely to be fundamental to the disease process. Mood changes such as irritability and emotional volatility and depressive symptoms are also relatively common, being reported in up to 50% of individuals. Frank psychotic symptoms such as delusions and hallucinations are only rarely reported. This suggests that these latter symptoms are not an intrinsic or inevitable part of HD. It may be that HD has the effect of increasing the likelihood of such symptoms in people who have a prior susceptibility.


Cognition-based versus mood-based behaviours

It has been implied earlier that some behavioural changes are the consequence of cognitive difficulties (cognition-based behaviours), whereas others reflect a person's mood (mood-based behaviours). If that assumption is correct then it would be anticipated that so-called cognition-based behaviours should correlate with cognitive change (i.e. the presence and severity of one should predict the other). However, if mood changes have separate underlying mechanisms, then there ought to be a much less well-defined relationship. This is exactly what occurs. Behavioural changes fall into distinct, identifiable behavioural clusters. Behavioural changes relating to drive, initiative, perseverance and judgement (i.e. behaviours that we would anticipate intuitively to be cognition-based) do indeed show a strong relationship to actual cognitive test scores. In contrast, mood changes such as depression and irritability show no statistical relationship to the severity of cognitive disorder.

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Behavioural changes and stage of HD

Cognition-based behaviours such as loss of drive and initiative and poor perseverance show a systematic worsening over the course of HD. This suggests that these aspects of behaviour are fundamental to the disease process. In contrast, mood changes do not show such a systematic worsening. It appears that HD predisposes people to certain mood changes such as depression, with the result that the incidence is greater than in the general population. However, such mood changes, if they occur, may present themselves at any stage of the illness. Bouts of depression may occur with apparent randomness and then resolve. Irritability may peak and then decline. Mood changes are amenable to treatment. People with HD can benefit significantly from standard medical treatments for depression, anxiety and irritability, thus improving quality of life both for sufferers and their families.

Effects of disease versus reaction to disease

It is sometimes questioned whether the behavioural changes in HD, particularly those relating to mood, are an inherent part of the disease process (i.e. a result of the physical changes that take place in the brain) or a secondary reaction to having a distressing and debilitating condition. The foregoing sections place a great deal of emphasis on changes that are part of HD and result from structural brain changes. That emphasis is deliberate, because understanding what the disease does to the person is essential to understanding the person with HD. However, that is not to say that there are not also reactive components. People with HD have life changes imposed on them: they may lose their job, their social life, their mobility and their independence. Their symptoms may be misinterpreted. They may, later in the disease, have difficulty communicating their needs and wishes. It is not surprising that there are times when people with HD show irritability and frustration. Often, behaviour is not just the direct effect of HD or just a reaction to it. It is a combination of the two. This is well illustrated by an incident involving a man with HD. As he was walking along he was stopped by the police and accused of being drunk. As he was entirely sober the man felt insulted and outraged, hit the policeman who then arrested him on a charge of assault. Many people with HD have parallel experiences in which their symptoms are misinterpreted by others. The man's feelings of anger can be seen as an understandable reaction, and it is a feeling that most people would share. Nevertheless, in a comparable situation most people who do not have HD would immediately be aware of the potential repercussions of hitting a policeman and realise that it would not be in their best interests to do so. They would, moreover, have the capability of suppressing their feelings of outrage. The man with HD could neither foresee the consequences of his actions, nor could he keep his feelings of anger in check. Those features are the direct effects of HD.

Conclusion

HD can be a destructive condition, because it may lead to behavioural problems that damage social and family relationships. It is, however, the disease and not the person that is at fault. People with HD are not being deliberately thoughtless, awkward and uncaring. It is the disease that gives rise to changes in behaviour, over which the person with HD has no control. There are no easy answers to behavioural problems. However, understanding why people with HD behave in the way that they do is important, since it may provide clues to circumventing problems. At the very least, understanding behaviour is a step towards better understanding of the person with HD, placing families and carers in a better position to provide optimum support and care.

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RESEARCH

More pieces of the puzzle

Hereditary Disease Foundation
Article reprinted from Edition Number 9 of the HDF Newsletter.

A new class of drugs already in human clinical trials for cancer may also be effective in treating Huntington's disease (HD) according to a study published in the October 18, 2001 issue of the prestigious British journal Nature. Drs. Leslie Thompson, Joan Steffan and Lawrence Marsh, from the University of California, Irvine, led the team of scientists who conducted the research with support from the Hereditary Disease Foundation.

The Irvine team demonstrated that the drugs, called histone deacetylase (HDAC) inhibitors, reversed the degeneration of neurons and prevented early death in a fruit fly (Drosophila) model of HD. Since several drugs in this class have already been approved by the Food and Drug Administration (FDA) for research in human populations, it may be possible to move rapidly into human clinical trials for HD if further animal testing proves successful.


Bile acid inhibits cell death in Huntington's disease

MINNEAPOLIS / ST. PAUL (July 24, 2002) - University of Minnesota researchers have found that a nontoxic bile acid produced in the body prevents apoptosis, or programmed cell death, in mice with Huntington's disease. This finding, to be published July 29 in the Proceedings of the National Academy of Sciences USA (PNAS), may eventually lead to a treatment for Huntington's disease (HD) in humans. HD is an untreatable neurological disorder caused by selective and progressive degeneration of neural cells.

In the study, led by Walter Low, Ph.D., professor of neurosurgery in the university's Medical School, a dose of tauroursodeoxycholic acid (TUDCA) was administered subcutaneously once every third day for six weeks in mice with the HD gene. Researchers found TUDCA was able to cross the blood / brain barrier, something many molecules are unable to do, resulting in decreased apoptosis in the section of the brain affected by HD and improving the neurological cell function in the mice.

"We're extremely encouraged by the neuroprotective function of TUDCA in Huntington's disease and will be examining its potential in future studies," said Low.

The bile acid's anti-apoptotic qualities were originally discovered in the laboratory of Clifford Steer, M.D., co-author of the article and director of the university's molecular gastroenterology program.

"We determined that this bile acid was unique in its ability to maintain the integrity of mitochondria, which is so important for normal cell function," said Steer. "By so doing, the TUDCA was able to significantly reduce brain cell death in a variety of conditions, including acute stroke, in rats. We were interested to see if this would be the case in Huntington's disease as well. What's exciting about TUDCA, in addition to its remarkable anti-apoptotic quality, is that it's made in our own bodies and causes virtually no side effects when given as a drug. TUDCA may even have potential for treating other chronic neurodegenerative conditions, such as Parkinson's, Alzheimer's and amyotrophic lateral sclerosis (ALS or Lou Gehrig's disease)."
Orally administered ursodeoxycholic acid, the parent molecule, is already FDA-approved for the treatment of primary biliary cirrhosis.

Other authors of the study include C. Dirk Keene, Cecilia M.P. Rodrigues, Tacjana Eich, and Manik S. Chhabra.

Reprinted from "Contact" AHDA (Victoria) - August, 2002

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Stem Cells and Huntington's Disease

By Samuel Weiss, PhD., University of Calgary
Member, Research Council, Huntington Society of Canada - March 2002.


A great deal of interest has been generated recently around the development and uses of stem cells for cell replacement therapies. In particular, the possible use of stem cells to treat neurodegenerative disease has made headlines. Here, I provide a short perspective on what stem cells are, on their potential, and finally on what we might expect in the future which impacts on new treatments for Huntington's disease.

What are stem cells?

Stem cells are the primitive cells that are responsible for creating the various tissues of the body. There are skin stem cells, blood stem cells and, most recently discovered, brain and spinal cord stem cells.

After the body is created, stem cells go into "hibernation", only emerging when there is a call (need) for new cells. For example, when you tear and lose skin cells, skin stem cells are activated to repair the damage. It was this property that suggested to most people that such stem cells could not exist in the brains/spinal cords of mammals (humans are in that family), because brain and spinal cord does not normally repair itself. In the early 90s, our laboratory and several others discovered that the adult brain (we work on mice, a mammal that has a brain that is similar to humans) does indeed contain these stem cells - and they are very similar to the stem cells we found in the brains of fetal mice.

When taken out of the brain of an embryonic or adult mouse and grown in incubators, these stem cells respond to protein growth factors (one is called epidermal growth factor) and they can make many brain cells. One of the brain cell types that they make is a neuron that produces gamma-aminobutyric acid. It is this type of neuron that is principally lost in HD. Thus, these discoveries raised two interesting possibilities: (1) if you can grow lots of these cells in incubators, they might represent a wonderful source of neurons for transplantation into the striatum, part of the inner brain seriously affected by HD, or (2) if you can stimulate the adult stem cells "right where they live" you may be able to get them to make new neurons and "self-repair" the brain.

What is the potential for using brain stem cells and what have we learned over the past 10 years?

The past 10 years have seen remarkable advancements in our understanding of the biology and clinical potential of brain stem cells. Hundreds of laboratories around the world have moved into this area of study and the results are breathtaking. Studies report the identification of the human counterparts to mouse brain cells. Once again, the brain stem cell is present in the developing and adult human brain. Other studies have shown that the brain stem cells in adult mice and monkeys are usually making new neurons that participate in olfaction (the ability to smell) and memory. So, it seems as though the stem cells in mammals are regenerating two principal functions - the ability to smell odours and to remember things - which may tell us that these are the most important functions for our species.

But how about movement and motor control?

We don't have the answers yet, but if the stem cells are making new neurons for controlling movement, these are being made in very small numbers. A recent study, however, found that when a mouse was made to have a small stroke, the brain stem cells sent new neurons to repair the damage. This very exciting result suggests that stem cells may respond to an injury with an attempt to repair. It further suggests that if we can learn how to "hyperstimulate" the stem cells, they may be able to repair a larger injury or degeneration that results from a chronic disease, such as HD.

Our laboratory, and many others, have discovered that certain growth factors can be instrumental in the "hyperstimulation" approach and together we are applying this knowledge to animal models of neurodegeneration, including models of HD. Our very early results suggest that you can stimulate these adult stem cells and they will send new neurons to the striatum.

What are the future possibilities for brain stem cells and Huntington's disease?

The truth and reality is that we must perform a great deal of careful research to ensure that the promise of stem cells transforms into safe, ethical and effective therapy.

How can this be accomplished?

First, we need to demonstrate in animal models that either transplantation of stem cells, or direct stimulation of the resident stem cells, can provide a long-lasting improvement in the motor and cognitive deficits that are characteristic of HD.

Second, if we are to consider transplantation, we must ask where such cells will come from. Recently, it has been shown that embryonic stem cells (the ones that are present in newly-fertilized embryos) can be grown in incubators and turned into brain stem cells. This approach, if warranted by the demonstration that transplantation is an effective therapy, would alleviate the need to seek donor tissue continuously because these embryonic stem cells can be kept in incubators and grown repeatedly for years. It has been suggested that spare fertilized embryos (no longer to be used) from IVF clinics represent a potential source. However, if warranted, such approaches must be in concert with the widest possible ethical and moral consultations. Of course, this applies to their potential use not just for HD but for many other diseases of the brain and other parts of the body.

Third, we need to think "outside the box."

What does this mean?

Stem cells are not the magic cure. They are likely to be part of what we will need to combat the devastation of neurodegeneration as seen in HD. We need to improve our early diagnosis, reduce the severity of cell loss, combat inflammation, provide new neurons (this is where the stem cells come in) and finally utilize progressive rehabilitation to allow regeneration to be complete. A tall order, but very achievable with the advances being made in science and the bridging between the studies of brain development, imaging, repair and rehabilitation.

We should be optimistic! We should be optimistic! We should be optimistic!

With thanks to HSC, reproduced from Horizon #101, Summer 2001.

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CHRISTMAS DRINKS & NIBBLES

Families, volunteers and friends of the Association are invited to join with members of the Management Committee for drinks and nibbles on the 10th December from 5.30pm to 7.00 pm. For catering purposes it is essential that you contact the office by the 5th December if you intend coming.

Membership

Thank you to all members who have renewed their Membership and for the many donations accompanying your fees. If you have not already done so, would you please forward your fees to the HD Office at your earliest convenience.

HD AWARENESS WALK

We invite readers to participate in a walk to promote awareness of Huntington's Disease. This is a new initiative and one we hope will set the stage to make this an annual event.

Date: Sunday 3rd November

Time: 9.00 am

BYO: Hats, sunscreen, drinks etc.

Meet: In front of the Maritime Museum, Sidon Street at the southern end of South Bank.

Gold Coin Donation

No bookings required - just turn up on the day (rain, hail or shine). The walk will be approximately 4-5 kilometers long, however there is no need to go the full distance - just enjoy the surroundings and company of friends. Ring the office if you would like more information.

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FUNDRAISING

Past Fundraising Activities

Rotary Raffle Results - T. Barnett of Annerley was the lucky winner of this raffle.

Golf Day at Karana Downs Golf Club - Sunday the 25th August, 2002.
A great effort again by Don Gray! Despite the much needed rain, 106 golfers turned up for a fun day of golf. There were several prizes on offer plus a small raffle on the day - total proceeds amounted to over $1900.00. Our thanks to those who assisted with the cooking, selling of raffle tickets and also to those who helped Don with the various golfing duties. We have booked a day for next year (31st August) and many golfers have already put their hands up, such was their enthusiasm and appreciation of a day well run.

Melbourne Cup Calcutta - 4th November to be held at the HD Centre in Annerley. Bring your friends and enjoy this action packed evening on the eve of the Melbourne Cup. You are guaranteed a great night of entertainment, so please advise Barbara at the office if you are interested in attending. The usual format is a sausage sizzle, auctioning of horses, sweeps and horse racing.

Cookie Drive - You will find an order form for Cookies enclosed with the Newsletter. Please support this fundraiser by returning your order form along with the appropriate money by the 30th November.

Rotary Christmas Hamper Raffle - Tickets in this raffle should be available from the Office during November. If you are interested in buying or selling tickets on behalf of the Association please contact Barbara at the office.

The Bayside Spring Festival was held in October last year and our Association was the charity to benefit from the event. We are pleased to announce that in June this year we received a cheque for $1018.00 which represented the Festival's contribution to the Huntington's cause. We are only too aware how difficult it is to raise money and extend our sincere thanks to members of the Bayside Spring Festival for their generosity.

Community Assistance - Recently we have received, and gratefully acknowledge here, major financial assistance from the following donors:

J. Callum

S. Catchpole

J. Clerke

J.M. O'Connell

Crushing Services Pty. Ltd.

Dowling Computers & Electronics

R. Farmer

A. Harding Smith

J. Gauci

B. Gillespie

J. Hall

H. Hatch

I. Linley

N.G. Salter

D. Sendra

J. Wallace

A. Waugh

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Townsville Family Support Group Meetings are held on the first Thursday of every second month.
Next Meeting - Thursday 7th November.

Care Management Meetings are held on the first Sunday of each month. Next meeting - 6th October.
Christmas Break-Up - date to be announced.


Bundaberg Family Support Group Meetings and Christmas Break-Up
If you are interested in attending please contact Nancy or Jenny for dates and times.

FOR YOUR DIARY

October 15 Management Committee Meeting - 6 pm at HD Centre, Annerley

November 1 2002 Awareness Week Seminar - at the HD Centre, Annerley

November 3   Awareness Walk - Meet at 9 am in front of the Maritime Museum
November 4   Melbourne Cup Calcutta - 6.30 pm at HD Centre, Annerley
November 19 Management Committee Meeting - 6 pm at HD Centre, Annerley

December 10 Christmas Drinks & Nibbles - 5.30 pm to 7.00 pm at HD Centre, Annerley
Management Committee Meeting - 7.30 at HD Centre, Annerley

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