Gait & Balance Problems in HD - Huntington's Disease Society of ...

CURE
TOWAR D A
WINTER 2009
A R E S E A R C H U P D A T E
World Congress on Huntington’s Disease
Meets in Vancouver, BC
September found more than
750 researchers, clinicians,
family members and staff
from international HD
organizations gathered in
Vancouver for three exciting
days of sharing information,
personal stories and best
practices.
Though the Congress convened
on Sunday, September 13, the
Huntington Society of Canada jump
started the weekend by launching
Ariel and Ralph Walker Day on
Saturday afternoon. More than 150
participants attended workshops on
youth programming, capitalizing on
social networking, innovative fund
raising ideas, staying strong through
HD and more.
Day One
On Sunday, Congress participants
gathered for a formal welcome by
organizer chairs, Michael Hayden
and Blair Leavitt, as well as IHA
president Asuncion Martinez and
Don Lamont, President of the
Huntington Society of Canada.
Thereafter the program featured a
plenary session each morning with
Scientific and Care Sessions offered
each afternoon. The first plenary
session featured 4 panelists who gave
moving testimonials to living at risk.
On page 3 you will find a report
on the Scientific Sessions that took
place over the three day Congress.
This article will focus on advances
in care and new initiatives that were
announced as part of ongoing efforts
by the Euro-HD Network to develop
Best Practices for HD.
Though the Care Sessions covered
a wealth of information on each
topic, we have provided a snapshot
of each workshop.
Care Session One
Lectures focused on “Living with
HD” and featured Oliver Quarrell
(Living with JHD), Vicki Wheelock
(Living with Early HD), Sam Frank
(Living with Advanced HD), and
Eleanor Wilson (Care at End of
Life). The main thrust of the session
was to discuss the challenges faced
in diagnosing and caring for people
with HD both from the clinical and
family aspects.
Of particular interest in the JHD
discussion was the data that suggested
that many physicians initially blame
the parents for “bad parenting” thus
creating even further barriers for the
family to clear in their quest for a
diagnosis. Quarrell suggested that
In This Issue
Continued on page 8
2 Notes from the Lab
3 Scientific Session Highlights
6 Gait & Balance Problems in HD
10 Ways to Give

Notes
from the Lab
By Marcy MacDonald, Ph.D.
Chair, HDSA Medical and
Scientific Advisory Committee
We are delighted to bring you this new
issue of Toward a Cure. In September,
more than 750 scientists, clinicians and
family members met in Vancouver, British
Columbia for four exciting days of
lectures, workshops and networking.
Family members, scientists and clinicians attended an array of presentations
focused on science or care. The scientific sessions showcased the
tremendous strides in research that have been made, including discussions
on the impact stem cell technology will have on HD, ways to interfere
with the disease process, the role of huntingtin and so much more. It was
an exhilarating experience. You can read a synopsis of the Scientific
Sessions beginning on page 3 and, for a more complete report please visit
www.hdsa.org.
In the Care Sessions, attendees heard about the research that is going
on in a clinical setting, which includes studies on gait and balance, the use
of alternative therapies such as yoga, and advances along the continuum of
care, including the early findings of the European HD Network and their
nascent standards of care. We are pleased to provide an article on gait and
balance by Sandra Kostyk and members of the HD team at the Center of
Excellence at Ohio State University (see page 6).
Importantly, we also heard inspirational stories from youth and young
adults – people at-risk, those who tested positive and tested negative –
who offered their own unique perspective on living with HD. We found
that youth and young adults around the world are finding ways to
communicate through social networking media such as Facebook and
Twitter. They were eager to share their ideas and to make connections
with others. These future leaders were asking questions about important
issues, like genetic testing, that challenged many of the established
protocols. As we continue to advance on many different fronts, their
influence is sure to be felt.
In closing, I’d like to recognize two principal World Congress
organizers, Michael Hayden (an HDSA Coalition for the Cure
investigator) and Blair Leavitt, both from the University of British
Columbia in Vancouver. Their outstanding efforts to ensure that every
participant, whether scientist, clinician or family member, had workshop
options that suited their level of interest, were exceptional and
appreciated by all in attendance.
As we end this year, I ask that you make a special effort to support the
research that is so important if we are to find effective treatments and
eventually a cure for HD. Your contribution, large or small, will be greatly
appreciated
TOWAR D ACURE
Published twice yearly, as a public
service, by the Huntington’s Disease
Society of America Inc.
505 Eighth Avenue, Suite 902
New York, NY 10018
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C. Walt Johnston, Chairman of the Board
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Jamie Greene, Esq., Secretary
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Diane Carlson
Jang-Ho Cha, M.D., Ph.D., Chair, CPEAC
Gerry Francese, Esq.
Susan Huang
Steve Ireland
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Cheryl Kendrick
Marcy MacDonald, Ph.D., Chair, MSAC
Michael Roth, Chair, Marketing
Steve Seekins
Kimberly Silva
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Dan Vandivort
Louise Vetter
Chief Executive Officer
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Director of Education,
Programs and Services
Editor
Laurie Straus, EllEss Design, Inc.
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The purpose of Toward a Cure is to provide
information and opinion and to relay items
of interest to individuals with Huntington’s
Disease and their families, healthcare
professionals and interested friends and
supporters.
The appearance of advertising, or the mention
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HDSA, Inc. guarantee or endorsement of the
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the manufacturer. Statements and opinions
expressed in articles are not necessarily those
of HDSA, Inc.
The Huntington’s Disease Society of
America (HDSA) is a national not-for-profit
organization. The Society is dedicated to
eradicating Huntington’s Disease by
promoting and supporting HD research; to
helping families cope with the problems
presented by HD; and to educating the
public and healthcare professionals about
Huntington’s Disease.
.HDSA is a member of the National Voluntary
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the National Organization of Rare Disorders,
the International Huntington Association,
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2

Scientific Sessions
Highlights from the World Congress
Session 1 was dedicated to Biomarkers. Ken Evans
(Ontario Cancer Biomarker Network) spoke of their
importance and variety, from specific molecules, to
imaging and observational measures. He stressed that
since it appears that CAG expansion only accounts for
50 percent of the variability of age of onset, and that
mutant huntingtin is found throughout the entire body,
a systems approach, combining several biomarkers, may
be necessary for accurate assessment of the progression
of disease and measurement of possible treatments.
Stefan Kloppel (Freiburg University, Germany)
reviewed current progress in Imaging Biomarkers for
HD including recent work combining PREDICT
information, whole brain images, and TRACK-HD,
which shows striatal volume loss 20 years prior to
symptom onset. Kloppel noted that a combination of
motor score and functional imaging may be necessary
for more accurate gauging of disease progression.
Ralf Reilmann (University
of Muenster, Germany)
followed with a discussion of
clinical biomarkers: cognitive,
psychiatric, behavioral and
motor. He spoke of the need
for more quantitative measures
than those provided by the
UHDRS (Unified Huntington’s
Disease Rating Scale), which is
the current standard assessment
instrument. His colleagues are
working on developing devices
that accurately measure chorea,
bradykinesia, gait, tapping,
oculomotor and persistency (tongue protrusion) to
confirm and augment the UHDRS. Models of these
devices are being tested at EHDN sites. Cognitive
markers were the topic of Julie Stout’s (Indiana
University) presentation and her work on the “HD
Toolkit” included investigating potential measuring
tools that could demonstrate an immediate response,
thus indicating disease progression as well as possible
detection of symptom reduction and disease modification.
Stout also suggested that cognitive markers
should be linked with functional and quality of life
measurements and that regulatory agencies be brought
into this discussion so there is consensus that will aid in
the approval of future therapies.
Session 2 focused on Post-Translational Modifications
in HD which is a process in which proteins, such as the
Real progress has been made in
stem cell technology, which offers
an exciting new route to
therapeutic development because
it affords opportunities to discover
the specific processes that are
altered by the HD mutation in
different types of human cells,
including brain cells.
huntingtin protein, are decorated with dynamic
biochemical moieties after they are synthesized.
Sandrine Humbert (Institute Curie, Orsay, France)
spoke on the phosphorylation of HD function in health
and disease. Humbert emphasized that the huntingtin
protein is essential for development, survival and the
processes of important cellular functions, as well as
being toxic to neurons in its mutant (HD-causing)
state. Her work has shown that phosphorylation at
S421 (an amino acid at position four hundred twenty
one in the huntingtin protein) restores BDNF (a
protein involved with neuron growth), and may
therefore be a target for therapeutic intervention.
Joan Steffan (University of California at Irvine)
spoke about modifying the first 17 amino acids in
huntingtin and the process of sumoylation. Small
Ubiquitin-like Modifier or SUMO proteins attach to
and/or detach from other
proteins in cells to modify their
function. SUMOylation is part
of many cellular processes,
including the movement of
material within a cell,
transcription and cell death.
Steffan’s lab has found
indications that altered
sumolyation of proteins may
affect the progression of disease
in HD model systems.
Proteolysis (the “digestion” of
proteins by cellular enzymes
called proteases or by intramolecular
digestion) of huntingtin in the development of
HD was the topic of Rona Graham’s talk (University
of British Columbia). She described her work on C6R
YAC transgenic mice, which express a version of
human huntingtin that has been mutated so that the
protein cannot be cleaved by an enzyme (caspase 6) at
a specific position near the start of the protein. Caspase
6 has also been identified in neurodegeneration in
Alzheimer’s and Parkinson’s disease. Dmitri Krainc
(Massachusetts General Hospital) talked about
acetylation of mutant huntingtin and how it may
modulate the degradation of proteins by a process called
autophagy (self-eating). Dr. Krainc is studying whether
protein deactylation inhibitors could reverse the
Continued on page 4
3

Scientific Session Highlights (cont’d from page 3)
degradation of cell components caused by the mutant
huntingtin protein.
Real progress has been made in stem cell technology,
which offers an exciting new route to therapeutic
development because it affords opportunities to discover
the specific processes that are altered by the HD mutation
in different types of human cells, including brain cells.
Jamshid Arjomand (CHDI) gave an overview of the
state of stem cell research in HD, starting with the variety
of ways stem cells may be cultivated: fetal, neural, nonneural,
embryonic, IPS (induced pluripotent stem cells),
and neurospheres (free floating cell structures generated by
neural cells). While stem cells may be used sometime in
the future in ‘replacement’ therapies to treat or prevent
HD, the work currently underway uses stem cells as tools
for discovery research. To date both mouse and human
embryonic stem cells, with
expanded CAG repeats, have
been successfully developed.
Anseme Perrier
(InSerm/I-Stem, Evry, France)
spoke about generating
striatal neurons from monkey
embryonic stem cells, and the
potential for allograft
transplantation (transplantation
of cells from another
person). While there has been some success in early
experiments, it is clear that, as in other stem cell
transplantation efforts, the transplantation alone will not
be enough – neuroprotective methods need to be
developed to prevent side effects, such as the tumors that
occurred in some early experiments.
Neural stem cells grown in culture retain
some of their native characteristics and
can be manipulated to induce different
patterns of gene expression that are
characteristic of different types of
specialized brain cells – exciting!
of specialized brain cells – exciting!
For years scientists have known that some aspect of
mitochondrial dysfunction (loss of a cell’s ability to produce
energy) was a significant factor in HD. In Scientific
Session 4, Patrick Weydte (University of Ulm, Germany)
discussed the relationship between dysregulation of gene
transcription and mutant huntingtin in the brain, and in
muscle and fat tissue, through a master regulator protein,
PGC-1 alpha, suggesting that a better understanding of
this protein may be a way to retard the progress of the
disease. Marcy MacDonald (Massachusetts General
Hospital) reviewed her work in ruling out the significant
direct impact of mitochondrial respiration which was done
using human samples as well as huntingtin knockout and
huntingtin CAG knock-in mice and cell lines.
MacDonald explained how the huntingtin protein
may be regulating how
carbon molecules in sugars
are utilized by cells and how
altered metabolism may be
connected to other problems
that mutant cells have.
Ali Koshnan (California
Institute of Technology) then
talked about inflammatory
cytokines (substances emitted
by immune system cells that
send signals to other cells)
which are elevated in the brains of people with HD as
early as 16 years before they become symptomatic. He
described work being done to understand the function of
one of the inflammatory cytokines, IKK, which has been
found to inhibit the neurotoxicity of mutant huntingtin in
mice by regulating the cleavage of the protein.
Clive Svendsen (Cedars-Sinai Medical Center and
University of Wisconsin) spoke about using human neural
stem cells that can be genetically manipulated prior to
transplantation to increase the likelihood of creating new
neural cells. Human neural stem cells from fetal brain
tissue have been used to reduce symptoms in a rat model
of HD, and those that have been engineered to produce
factors that increase the well-being of brain cells (GDNF
and IGF1) have shown improved symptoms in N171
transgenic mice. How to generate large numbers of neural
stem cell lines for both research and therapeutic
development was the subject that was addressed by Elena
Cattaneo (University of Milano, Italy). She has focused
on developing a renewable source of neural stem cells that
can be manipulated in various ways. Neural stem cells
grown in culture retain some of their native characteristics
and can be manipulated to induce different patterns of
gene expression that are characteristic of different types
Microglia (non-neuron cells involved in signal
transmission that act as the immune system of the central
nervous system) are approximately 10% of all brain cells,
but less than 1% of our RNA. Thomas Moeller
(University of Washington) spoke about discovering
elevated levels of neuro-inflammatory substances in the
brains of people with HD and suggested that the role of
inflammation be examined more closely, as well as
whether mutant huntingtin affects microglia transcription
or functionality. Indeed, the HD disease process leads to
significant loss of brain volume, as well as atrophy and the
death of neurons. New studies show that even many years
before symptom onset there is a loss of grey and white
brain matter, and that the loss of cognitive function is
related to synaptic plasticity (change in strength of the
connection between two neurons). Marian DiFiglia
(Massachusetts General Hospital) spoke about the
problems caused by mutant huntingtin when they localize
4

in cell membranes and affect the signaling pathways of
membranes that regulate growth and survival. DiFiglia’s
studies suggest that mutant huntingtin impairs the
development of these signaling mechanisms, which may
be valid targets for therapeutic intervention.
Erich Wanker (Max Delbruck Center for Molecular
Medicine, Germany) shared his work on identifying
substances that modulate misfolding of polyglutamine and
other aggregation-prone proteins that can elicit toxicity
in HD model systems. He has looked at the accumulation
of insoluble proteins (amyloids) and has determined that
CRMP1 expression (a protein that is part of the neural
development process) decreased polyglutamineaggregation
in Drosophila (fruit fly) and may be a
worthwhile target for therapeutic intervention.
Sirtuins are a family of protein deactylases that retard
the aging process in experiments involving calorie
restriction. In mouse models, calorie restriction seemed to
increase sirtuin activity and has been shown to be
protective in HD model systems. Dena Cohen
(Massachusetts Institute of Technology) has investigated
whether increased expression of Sirt1 would prevent the
progression of HD in the R6/2 mouse model. Her work
suggests that the overexpression of Sirt1 extends life and
protects against striatal atrophy in that mouse model.
Sirt1 regulates BDNF (brain derived neurotrophic factor),
a key protein in nerve cell growth and function, so
regulation of Sirt1 may become a valuable therapeutic
approach to the treatment of HD. Lynn Raymond
(University of British Columbia) rounded out the session
with a discussion of excitotoxicity,
a process by which nerve cells
become damaged as a result of
over-activation by neurotransmitters.
There are many potential
causes of excitotoxicity in HD,
including mitochondrial
dysfunction, dopamine-mediated
signaling, the release of calcium, as
well as altered glutamate-signaling
in mutant huntingtin expressing neurons. There may also
be a relationship between enhanced NMDAR (an amino
acid that acts as a binding agent in NMDA receptors), as
experiments in YAC mice have shown that increased
NDMAR signaling may trigger cell death pathways,
which suggests that these processes may be a fruitful
approach to an HD therapy.
The final Scientific Session of the World Congress
included presentations of new approaches aimed at
understanding and developing therapies for HD. The purpose
of the session was to communicate these initial findings
For years scientists have known
that some aspect of mitochondrial
dysfunction (loss of a cell’s ability
to produce energy) was a
significant factor in HD.
to the assembled scientists and
foster conversations that would
lead to further
investigation of
promising
avenues of
research.
Holly
Kordasiewicz
(University of San Diego)
described her research using antisense oligonucleotide
(ASO) mediated suppression of huntingtin as a treatment
for HD. ASOs are short single stranded DNAs that target
specific RNA for chemical destruction.
Pierre Kystkowiak (on behalf of the Huntington
French Speaking Network) presented a study involving
Adenosine A2A Receptors, which are localized on spiny
neurons that express enkephalin and D2 receptors (the
most vulnerable in HD which affect striatal
development), and the role they play in the onset of HD.
Nellie Georgiou-Karistianis (Monash University,
Australia) studied the potential of magnetic resonance
(MR) phase signals as a measurement of iron concentration
in the caudate and putamen in HD patients.
Increases in iron concentration in these areas occur in
HD patients and so this study may lead to the creation of
a valid biomarker. There has been much discussion about
the validity of mouse models in HD research. Simon
Brooks (Cardiff University, Wales) described a series of
experiments that supported the use of the YAC-128
mouse as a model of human cognitive deficits that occur
as the disease progresses. Juliet
Godin (University of Orsay,
France) presented findings that
beta-catenin (a protein involved
in cell-cell communication)
accumulates in HD cell and
fruitfly models, as well as in
samples from deceased HD
patients.
The final presentation was a review of PGD
(preimplantation genetic diagnosis) by Alison Lashwood
(St. Thomas Hospital, London). Over the past seven
years, 83 PGD cycles were attempted, resulting in the
birth of 28 healthy babies, of which 6 sets were twins.
The Hospital considers this a successful record, and noted
the importance of expert counseling prior to the decision
to undergo PGD treatment. With the proliferation of
genetic advances, the HD PGD program also serves as an
important model for ethical and scientific issues that
surround the process.
5

Gait &Balance Problems in HD
Assessment and Interventions
Gait and balance problems
become a growing concern
over time for individuals with
Huntington’s Disease (HD).
Falls and injuries result in
increasing impairment and
the loss of independence.
Fall prevention becomes a
challenge. Because muscle
strength is preserved in HD,
and because it is hard for
individuals to understand
why they can not just get
up and go all the time,
especially when most of the
time they do not fall,
treating balance disorders
in HD can be difficult
Sandra Kostyk, M.D., Ph.D.,
Deb Kegelmeyer PT, DPT, GCS and
Ann Kloos PT, Ph.D., NCS
Most neurologists are not specifically trained in how to assess gait and
balance disorders. While physical therapists have more experience in
training individuals in safe walking techniques and in the use of assistive
devices, few therapists in general practice have had much experience with
the specific needs of the person with HD. Little research has been done on
gait and balance problems in neurodegenerative disorders and even less has
been done in HD. Working as a team over the last five years, we have tried
to figure out how to assess who is at risk for falls and how assistive devices
affect balance and gait in individuals with HD. Recently, we have begun
trying to find ways to use exercise therapy to improve balance and gait.
The standard motor assessment tool used in HD is the Unified
Huntington’s Disease Rating Scale (UHDRS). The scale is useful for
assessing disease severity and disease progression. However, it has only three
measures of gait and balance and they are not very helpful for assessing fall
risks. After reviewing other available clinical scales and measures, we
selected the Tinetti Mobility Test (TMT) to study gait and balance in HD in
more detail. The TMT scores 9 balance measures and 10 gait measures and
can be administered in less than 5 minutes. We routinely asked individuals
in clinic how many falls they had in the week before their clinic visit and
how many falls they estimated they had in the last 6 months. Most patients
also had the TMT test performed during their visits. A review of 193 medical
charts was completed. Falls reported ranged from 0-35 in the previous week
to 0-500 in the previous 6 months. With 28
representing a normal score on the TMT, we
found that TMT scores below 21 were
associated with impaired motor function
(worse UHDRS scores) and slower gait
speed and with a linearly increasing fall risk
as the TMT score decreased. Individuals
who score below 21 warrant further
assessment, education and interventions to
decrease risk and frequency of falls.
In addition to trying
to identify who is
likely to fall and
which devices work
best to support
mobility and
stability, we have
begun looking at
approaches to
improve balance and
coordination in HD.
Indentifying who is likely to begin having
trouble with falls helps in planning
intervention strategies. One of the most
common interventions is the introduction
of an assistive device. It is commonly agreed
that individuals with HD do not generally
do well with canes. This may be in part because of the phenomena of motor
impersistence (the tendency of not maintaining a motor position such as the
hand grasp needed to continuously hold on to the cane) or in part because of
the varying motions associated with chorea. However, the effectiveness of
varying types of canes and walkers has not been well explored in HD. We
recruited 21 subjects in various stages of HD to try out 7 different assistive
devices. The devices included a regular cane, a weighted cane, a standard
6

Figure 1. GaitRite computerized
record of steps of three individuals.
The upper tracing shows the typical
shuffling, small step pattern of an
individual with Parkinson’s Disease.
Note that you can draw a straight
line from one step to the next. The
middle tracing is from a normal
healthy individual. Again, you can
draw a straight line following the
right foot print across the walkway.
The bottom tracing is from an
individual with Huntington’s disease
with a mild gait impairment who has
not had problems with falls.
However, notice that there is a lot of
variability in step direction and
spacing between steps.
walker, a two wheeled walker, a three wheeled walker and a
four wheeled walker. Each person was then assessed walking
with each device. Gait patterns were electronically
recorded and transferred to a computerized data system
while each individual walked 64 ft. Figure 1 shows an
example of how the gait patterns can be recorded using the
GaitRite system. Mobility and maneuverability were also
assessed with each device while walking repeatedly in a
figure-of-eight pattern around two chairs. Multiple gait
variables were measured and compared including gait
speed, stride length, base of support, swing time and
number of stumbles. We found that all devices slowed gait
speed compared to the individual’s spontaneous normal
gait. This slowing of gait speed may in part be why some
individuals resist using assistive devices. However, using the
three and four wheeled walkers most closely approached
normal gait speed. All devices but the three wheeled
walker decreased normal stride length. Although
individuals walked faster with the three wheeled walker on
a straight path, the three wheeled walker increased the
amount of time that an individual’s feet were both on the
ground and increased step variability. In addition, it took
them longer to complete the figure-of-eight obstacle course
than with any other device. The worst gait patterns
observed were with the standard walker (no wheels), the
two wheeled walker and the two canes. Overall, the device
that produced the most normal gait pattern with the
greatest stability was the four wheeled walker with front
swivel wheels and hand brakes. Introducing the four
wheeled walker as the TMT score begins to fall below 21,
and before the onset of frequent falls, and may help get the
individual with HD acclimated to the device and facilitate
mobility, independence and safety.
In addition to trying to identify who is likely to fall and
which devices work best to support mobility and stability,
we have begun looking at approaches to improve balance
and coordination in HD. We routinely provide our patients
with a DVD and exercise booklet with balance and gait
exercises specifically geared to the individual with HD.
However, while it is hard for the unaffected individual to
exercise regularly, even though we all know it is for our own
good, apathy and fear of falling can be an even greater
barrier to regular exercise for those with HD. In an effort to
explore ways to incorporate balance and coordination
workouts into an easily applicable exercise routine that
might also be fun, we have begun studying the use of a
therapist guided application of the Dance Dance Revolution
as a delivery system for a Video game Biofeedback
modulated Exercise program (the ViBE study). We hope to
determine if regular use can improve balance, decrease fall
risk and improve quality of life in individuals with HD.
After a brief learning curve everyone who has participated
so far has improved the correct number of steps performed
during the dance program and everyone has enjoyed participating.
Preliminary data suggests that TMT scores may
improve in some subjects after the 6 week course. Formal
data analysis will begin on this project after the last three
subjects complete the study. In the meantime, as data
suggests that regular exercise may prevent progression of
several neurodegenerative diseases, we encourage everyone
to try to exercise at least three times a week.
Acknowledgements and references are available upon request.
SK Kostyk, MD, PhD, DA Kegelmeyer, PT, DPT, GCS and AD
Kloos PT, PhD, NCS; The HDSA Center of Excellence at the Ohio
State University.
7

World Congress on HD meets in Vancouver (cont’d from page 1)
the diagnostic process needs to be reassessed
so it includes parental and
family support rather than just
medication of symptoms.
In Living with Early HD,
Wheelock presented evidence from
both the PREDICT-HD and
TRACK-HD studies that indicate
that HD is a life-long process that
can be detected many years before
diagnosis. She noted that people
at risk for HD should not wait for
a definitive diagnosis of
HD but rather proactively
assemble a care team early,
educate themselves about
HD including treatments,
develop strategies to help
with behavioral changes,
begin exercise and nutrition
programs, and volunteer for research
studies.
Sam Frank looked at Living with
Advanced HD and the impact small
interventions in supportive homes
and long term care facilities can
have on quality of life. He included
preparing in advance, managing
medications, establishing routines
and introducing ancillary therapies
such as physical and occupational
therapy, speech therapy, music and
art, and likened the person with HD
as being the center spoke in the
wheel around which family, clinical
care and treatment issues rotated.
Wilson touched upon the
challenges of delivering palliative and
end of life care to the person with
HD. Both the individual with HD
and the family are faced with a
complex range of needs at end of life.
Advance care planning is key, and
she recommended developing best
practices to enhance the quality of
palliative and end of life care for HD
and other long term neurological
conditions.
Care Session Two
Presenters focused on Approaches
to Symptomatic Therapy for HD and
featured Berry Kremer (Symptomatic
Therapy of HD Associated
Movement Disorders), Sandra
Kostyk (Assessment and
Interventions for Gait and Balance
Problems Associated with HD),
Adam Rosenblatt (Psychiatric
Symptoms of HD – Description and
Management and Ira Shoulson
(Irritability and Aggression in HD:
Clinical Features and Medical
Management).
Both the individual with HD and the
family are faced with a complex range
of needs at end of life.
Kremer’s presentation discussed
the benefits of earlier intervention
in symptom management. However
since most treatments for the
movement disorders associated with
HD (chorea, dystonia, myoclonus,
rigidity, bradykinesia and ‘clumsiness’)
are based on “expert” opinion or
clinical use rather than evidenced
based studies, she cautioned that the
decision to start medication for the
movement disorder should be
carefully considered.
Kostyk presented an interesting
workshop on gait and balance that
demonstrated that the use of three
and four wheeled walkers with front
swivel castors provided the most
efficient, consistent and safe gait
patterns on both a straight walk and
during turns. The study also found
that the standard four legged walker
was the worse for people with HD
(see article on page 6).
Rosenblatt noted that the
psychiatric symptoms of HD can be
effectively treated with medication.
Depression is present in almost 40%
of people with HD yet remains
under-diagnosed. Mania is present is
4-8% of people with HD and may
actually be irritability. Perseveration
is very common, as are delusions.
Though there are a large number of
medications available to treat the
psychiatric disorders associated with
HD, the selection remains one of
clinician preference in the absence
of evidence based studies. However,
of note was the fact that not every
psychiatric/unusual behavior requires
treatment.
Shoulson closed the session with
a presentation on irritability and
aggression and noted that both
are commonly observed and
can be a source of significant
disability to both the person
with HD and their caregiver.
Cognitive changes that include
slowed processing, reduced
awareness, difficulty planning/
sequencing, and decreased judgment
contribute to irritability and
aggression. Unrecognized/ untreated
depression can also lead to irritability.
Shoulson included the role of the
family and coping strategies for
addressing the triggers to irritability
and aggression.
Day one of the World Congress
concluded with a debate on
Predictive Testing for HD: Should It Be
Offered to Children. Speaking on
behalf of early testing, Martin
Delatycki, made a cogent case for
allowing testing in mature minors
and establishing a minimum age in
the IHA genetic testing guidelines at
which a minor can be tested. The
current guidelines restrict testing to
“an individual who has reached the
age of majority.” Fiona Richards
provided commentary against early
predictive testing and spoke about
the psychological harm that could
come from a positive test result. She
favored retaining a minimum age of
18 as it recognizes adult autonomy
without the risk of harm inherent in
the reliance on the arbitrary and
variable “maturity” assessments
proposed by those who favor testing
adolescents younger than age 18.
8

Day Two
The World Congress began with
a plenary session that focused on a
review of what we can learn from
other diseases. Featured speakers
included Michael Benatar from ALS,
Julio Montaner from HIV/AIDS and
Dale Bredesen from Alzheimer’s
disease. The crux of this plenary
session was to look at lessons learned
by these groups in their search for
effective treatments. There are many
similarities between HD and other
disease groups, not only in the way
the disease manifests but also in how
research has led to effective
treatments.
Care Session Three
Speakers highlighted Euro-HD
Network’s efforts to establish
standards of care for European HD
clinics and included presentations
on nutrition, speech, neuropsychology
and physiotherapy.
Lillian Campos introduced the
concept of standards of care as they
related to the nutritional needs of
people with HD. Campos discussed
the impact of early intervention to
improve nutritional outcomes in
people with HD, and the importance
of including the dietician in the
multidisciplinary team approach.
Such early intervention would
prevent weight loss associated with
HD and help to define malnutrition.
Since nutritional needs vary through
early, mid and later stages, regular
reviews are important and would
encourage forward planning
including use of feeding tubes.
Anne-Wil Heemskerk presented
on early intervention for speech and
swallowing assessments. As a member
of the multidisciplinary team, the
Speech-Language Pathologist (SLP)
would aid the person with HD by
assessing their ability to communicate
and swallow. The Standards of Care
Workgroup is developing evidence
based guidelines for best practices in
the areas of speech/language and
dysphagia (swallowing).
Kirsty Matheson discussed the
role of neuropsychology and the use
of a baseline neuropsychological
assessment at diagnosis and then at
regular intervals to track changes.
The data would be useful in behavior
management and when planning
management strategies. Matheson
provided a few strategy examples that
included short tasks/breaks, repeating
information, altering the environment
when needed, identifying strengths
and using calendars.
Monica Busse concluded the
session with a presentation on
Continued on page 10
HDTrials.org
HDTrials is a Clinical Trials Recruitment Website that
developed in collaboration with members of other organizations
and individuals from the Huntington’s Disease
community. The site allows people to anonymously receive
information about clinical studies and clinical trials that will
be taking place in their geographic area. To register, one need
only visit hdtrials.org, sign up with an email and enter your zip
code or postal code (for Canadians). Researchers and
clinicians notify the administrators of HDTrials of their plans,
and emails are then sent to everyone registered within the
appropriate geographic area, informing them of the proposed
trial with information on how to contact the administrators of
the trial.
With the number of new potential therapies entering clinical trials, there is a rapidly expanding
need for more volunteer participants than ever before – a need that will continue to grow with each
new advance. At the same time, we understand the need to protect the privacy of members of the
HD community. The HDTrials system was designed to satisfy both the need to expand the number of
participants in studies and trials, while maintaining confidentiality for everyone involved. While
HDTrials is administered by HDSA, the database of people who register is kept on secure servers,
apart from those used by HDSA or any other HD organization.
On the HDTrials.org website you will find more information on clinical studies, and trials, links to
all of the participating HD organizations as well, as links to websites where you can obtain a free
anonymous email account. Please go to HDTrials.org and register today.
9

World Congress
on HD meets in
Vancouver (cont’d from page 9)
physiotherapy for people with HD. Again
the discussion centered on early
intervention to improve mobility. Busse
noted that about 19% of people with HD
in Europe receive physiotherapy. Benefits
of preventive PT include better balance
and endurance, while restorative PT can
include gait training and exercise.
Quantitative studies are underway to
evaluate current physiotherapy practices
and guide the development of
interventions for people with HD.
Care Session Four
Lecturers looked a Improving Quality
of Life for People with HD. Presenters
included Aileen Ho (HD in the Home:
Understanding Patient and Carer
Perspectives), Cath Stanley (Improving
Quality of Life), Ruth Veenhuizen
(Outreaching Coordinated Multidisciplinary
Care for HD) and Laura Jean
Kokoska (Improving Quality of Life
Through Kundalini Yoga and Meditation).
Ho explored the impact HD has on
both the person affected and the caregiver.
She found a correlation between mood,
cognition and social interactions for both.
Stanley talked about the network of
regional care advisors that has been
established in the UK to work with and
for people affected by HD. Early results
indicate that this has improved quality of
life for people with HD.
Veenhuizen discussed a multidisciplinary
team care approach for people with HD.
This is very similar to the HDSA Center of
Excellence concept wherein all services are
offered in a central clinic and care plans are
created for implementation in coordination
with the primary care provider.
Kokoska demonstrated the benefits of
yoga and meditation for people with HD.
She has conducted similar workshops at
HDSA conventions.
Day 2 concluded with a debate about
the use of mouse studies as indicators of
Ways to Give
HDSA is an organization that strives to
make every dollar count.Your generosity
has allowed us to develop programs
that positively impact the lives of people
with HD. With your continued support
we will expand these programs to help
to make a difference in the lives of
people with HD.
Your donations help us fulfill
the three parts of our mission
to improve the lives of people
with HD and their families:
To find effective treatments and
ultimately a cure for HD by funding
innovative research
To help people with HD and their
families by funding Centers of
Excellence, social workers, support
groups, chapters and affiliates
To educate the public and healthcare
professionals about HD by providing
information and education about
HD to families and healthcare
professionals through publications,
books, conferences, conventions,
local and national helplines and a
national website (www.hdsa.org).
Continued on page 12
10

There are many ways for you to make your contribution to HDSA.
Visit our website regularly and browse the HDSA
Holiday Marketplace for unique holiday gifts.
Purchase colorful amaryllis plants, commemorative
snowflake ornaments, holiday cards, warm and
comfortable fleece pullovers, inspirational books and
so much more. There are gifts for every member of
your family and, best of all, your purchases help to
support HDSA’s programs for research and care. So this
year, please consider giving a gift that keeps on giving.
Please visit www.hdsa.org and click on “To Make
a Donation to HDSA click here!” This will take
you to a secure page where you can make a direct
donation to HDSA. Or, you can print out the form and
mail it to: HDSA, 505 Eighth Avenue, Suite 902, New
York, NY 10018, or fax it to 212 216-9004.
You may choose to establish a Family Fund to honor
your family or remember a loved one. Join with friends
and relatives, and pool your resources, to make your
dollars work harder than you could individually. What a
wonderful way to honor a loved one during the holidays
and throughout the year.
Other options include the HDSA Heritage Club:
create a planned giving opportunity; HDSA Tribute
Gift: honor a friend or relative in a special holiday
greeting; or an HDSA Memorial Gift: honor the
memory of a loved one during the holidays.
Your employer may be part of the HDSA Matching
Gifts Program which doubles your donation. If your
employer is not listed on our website, we can enroll
your company or organization. It’s another way for you
to help HDSA, now, and in the future.
In addition to these cash gifts you can help
HDSA through a donation of:
Appreciated Stocks and/or Mutual Funds –
earn a charitable tax deduction for the full fair
market value of the gift while you lower your capital
gains taxes.
Life Insurance – donating a life insurance policy
will earn you an income tax deduction equal to the
lesser of the cash value of the policy or total
premiums paid.
Real Estate – a gift of a property that is fully paid
off will allow you to remove that asset from your
taxable estate. You can then deduct the fair market
value of your gift while avoiding all capital gains
taxes on the property. Transfer the deed of your home
or farm to HDSA now and retain the right to use the
property for your lifetime and that of your spouse.
Will or Trust – a charitable bequest left to
HDSA. Ask your attorney to include wording
such as: “I give, devise, or bequeath all (or note any
fraction or percentage) of the remainder of my
estate, whether real or personal, to the Huntington’s
Disease Society of America, Inc., 505 Eighth
Avenue, Suite 902, New York, NY 10018 for its
general purposes.” OR “I give to the Huntington’s
Disease Society of America, 505 Eighth Avenue,
Suite 902, New York, NY 10018, the sum of
______ dollars to be used for its general purposes.”
For more information on donating any of these
financial instruments, please contact the HDSA
National Office, 800 345-HDSA (4372).
Now more than ever, we need your help. Please use the envelope
enclosed with this issue to make your donation today
11

World Congress on HD meets in Vancouver
(cont’d from page 10)
success in human clinical trials.
Joseph Guiliano from CHDI
advocated on behalf of discovering
new methods to test potential
therapies and shifting the use of a
mouse model from predicting success
of a treatment to confirming a
mechanism of the disease. Flint Beal
argued the other side – that animal
models have played a critical role in
providing accurate and accessible
systems to study the neurobiological
aspects of HD and serve as a way to
validate known drug targets.
Day Three
The final day of the World
Congress opened with a plenary
session devoted to exploring
potential therapies for HD that
included an overview of the HD
discovery pipeline by Robert
Pacifici (CHDI), and presentations
on HDAC 4 (Gillian Bates) and
Dimebon (Sarah Noonberg and
Karl Kieburtz) as possible new
drugs making their way through
the pipeline.
Care Session Five
Presentations looked at Coping
Strategies for HD Families and
featured a look at a long term care
facility for people with HD (Carol
Herren: The View from Ontario
Shores), Strategies for Coping with
the Behavioral Symptoms of HD
(David Cauford), a workshop on
how young adults in Canada have
been brought together using social
networking (Brynne Stainsby:
Strategies to Form Connections),
and an inspirational story about fund
raising by Warren Evans (Life
Lessons from Laura and Laura’s
Hope).
Care Session Six
This session featured the Role of
Families in HD Research and began
with a moving testimonial by Jeff
Carroll who has tested positive for
HD. He related how he and his
siblings (gene negative) have
become involved in clinical trials.
Fred Marshall took the audience
through the role that families play
in drug approval and used the
recent FDA approval of
Tetrabenazine as an example of
patient involvement and advocacy.
Carol Moskowitz presented on
barriers to participating in trials for
both the person with HD and the
caregiver. Ray Dorsey concluded
the session with a presentation on
communicating clinical trial results
to participants. An article by Dr.
Dorsey on this subject appeared in
the last issue of The Marker
magazine, which is now available
on the HDSA national web site.
The final presentation of the
World Congress was a debate on
whether a person’s test result
belonged only to them or to others
as well – and asked which others?
Since HD is a family disease,
should the positive or negative test
result of one sibling be shared with
other at risk siblings or does the
tested person have the right to
privacy and to choosing with
whom he/she will share the result.
Would knowing the test result save
a sibling from unnecessary testing
in a family where HD is not
known? Would a positive test result
influence the life decisions of at
risk family members? These issues
were briefly touched on and
certainly gave the audience pause
for thought.
Save the Date
HDSA 25th Convention | June 25-27, 2010
HDSA invites you to join us in Raleigh NC for our 25th Convention! We are expecting
a record crowd in 2010 so be sure to register early. Email Robert Coffey at
coffeyr@hdsa.org or visit the HDSA national web site at www.hdsa.org AFTER
January 1, 2010 for more information or to register on line. The convention will be
held at the Hilton Raleigh North. See you then!
12