Sara Vallazza

Professor Massey
ENC1101
11-06-14
Annotated Bibliography; Huntingtons, A Killer Disease
Busse, Kahlil, Quinn, and Rosser. Physical Therapy Intervention for People With Huntington
Disease. Physical Therapy 88-7(July 2008); 820-831. Associates Program
Source Plus

(Ebsco). 22, October, 2014.

The management of Huntingtons disease is currently focused on the side effects because
there is yet to be a cure. Physical therapy might play a role in helping people with HD keep their
independence in their daily activities. Since not much is known about this genetic mutation few
detailed studies have been conducted to direct physical therapists working with patients who
have Huntingtons. This study sheds light in developing standardized care and useful research
studies. The consultations between the therapist and patient were conducted through mailed
questionnaires and interviews. The interviews were abetted by the data attained from the
questionnaires. The three main issues that surfaced during the interviews was the deficient use of
routine physical therapy and the outcomes measured at different stages, the underutilization of
the physical therapy in the early stages of HD, and the management of falls and mobile deficit.
The therapy must be modified in response to the individuals conditions. It plays a role in
expediting their independence. Since the research is practically nonexistent, this study was
relevant to the topic because it is useful in identifying the components that should be used in
physical therapy for those with Huntingtons disease.
Khalil, Quinn, Deursen, Martin, Rosser, and Busse. Adherence to Use of a Home-Based

Exercise DVD in People With Huntington Disease: Participants Perspectives. Physical

Therapy. 92-1 (Jan 2012); 69-82. Associates Program Source Plus (EBSCO).
22, October,
2014.
Huntington disease results in a progressive movement disorder, cognitive deficits, and
behavioral changes leading to a total loss of ones independence in functional activities. There is
no known cure, but evidence suggests that physical therapy and exercise will improve the
patients mobility, strength, balance, and function. An individualized exercise video would be
favorable for people with Huntingtons disease. The home exercise DVD will facilitate
engagement in the exercise for people with Huntingtons who have cognitive and motivational
problems. Scientists researched how people with HD used the home DVD and how them and
their caregivers reacted to it. Fifteen people with Huntingtons were given the exercise DVD.
The patients adherence rates were recorded to determine the success of the program. The
recording of adherence rates were majorly effected by the patients physical and cognitive factors.
These factors affected the patients ability to perform the exercises independently. This is relevant
to my topic because it shows that different techniques can be used to slow the progression of
symptoms caused by Huntingtons disease.
Knowles, Johanna. Huntington's Disease. New York: New York: The Rosen Pub, 2007. 64.
Print.
This book is relevant to my topic because it has everything to do with Huntingtons
disease. Huntingtons disease results in movement disorders, cognitive disabilities, and attitude
changes. There is a 50% chance of offspring inheriting this disease. There is testing for HD but
there is also other ways to determine wether or not one has Huntingtons disease. The human
genome project is working on locating the source of the disease and it can also determine if the

patient carries the gene. Huntingtons disease is a fatal disease passed down through familys that
has no known cures. Every person has the normal Huntington gene, but some have the defective
gene which causes HD. Many neuroscientists have experimented on mice to try and determine
where the mutation begins. They use mouse models or live mice. There are also clinical trials
conducted by specialists to find a cure, but it has been very difficult. Huntingtons affects many
and new ideas are being explored to understand more about this disease.
Snyder, Solomon. Brain Degeneration in Huntingtons Caused by Amino Acid Deficiency.
Bioscience Technology 26 Mar. 2014: 1-2. Online.
When John Hopkins neuroscientists worked with genetically engineered mice, they
identified what they believe is the cause of degeneration of a part of the brain. Loss of the ability
to make amino acid cysteine correlates to people with Huntington disease. Scientists found out
that mice fed with a diet rich in cysteine, slowed the progression rate of Huntingtons. Ninety
percent of the human corpus striatum, a structure that moderates mood, movement, and
cognition, slowly degenerates in people with Huntingtons Disease. Scientists tracked the
degenerative process to the absence of an enzyme, cystathionine, or CSE. There is not much
known on what causes the tissue to rot. Not even what one can do about it; with a 50/50 chance
of inheriting the disease from parents. There is a lot of fear in the effects of this disorder. In the
case of this disease and new technological advances, there appears to be a way to slow the
progression rate. This is relevant to my topic because it shows the new advancements that have
been made toward finding a cure for this disease.
Quinn, Khalil, Dawes, Fritz, Kegelmeyer, Kloos, Gillard, and Busse. Reliability and Minimal
Detectable Change of Physical Performance Measures in Individuals With Pre-manifest
and Manifest Huntington Disease. 93-7 (2013); 942-956. Associates Program
Source
Plus (EBSCO). 22, October, 2014.

Huntington Disease is neurodegenerative disease that causes a grand decline in the

persons cognitive, psychological, and motor functions. The people with this disease walk at a
slower speed because of their delayed motor responses. Clinical Trials for people with
Huntingtons disease (HD) are confined because there is not a lot of reliable information that has
been obtained on HD. A study on Huntingtons was created to arbitrate the reliability and
minimal detectable change. People with pre-manifest and manifest HD were enlisted to take part
in an assortment of physical performance and functional measuring tests. Seventy-five people
with HD completed this study. The test reliability was at an all time high. Patients completed the
Six-minute Walk Test, 10-meter Walk Test, Timed-Up and Go Test, Berg Balance Scale,
Physical Performance Test, Barther Index, Rivermead Mobility Index, and Tinetti Mobility Test.
The reliability of these results were relatively low for patients with manifest HD. This is relevant
to my topic because it describes the tests available to individuals with Huntingtons.
Yang, William. Tracking the Origin of Huntingtons Disease in the Brain. Bioscience
Technology 28 April 2014: 1-2. Print.
Huntingtons appears in every cell in the body. Neuroscientists are trying a unique
approach to switch off the gene in individual regions of the brain. This disease affects about
35,000 Americans. From day one the mutant gene appears everywhere in the body. To be able to
treat this disorder, where it starts needs to be identified. It takes away the ability to move, speak,
eat, and think clearly. There is no known cure. Scientists are trying to discover a cure, so they
inserted the entire huntintin gene, into a mouses body. The mice developed motor and psychiatric
problems that were similar to those exhibited by human patients. The scientists used a genetic
scissor and cut off the stutter to shut off the huntintin gene. The scientists also discovered that
reducing the amount of huntington in the cortex improved the symptoms of the mice. If you shut

down the gene in the cortical and striatal neurons, it fixed all the symptoms the mice displayed.
The research completed by the scientists provides insight on where the disease begins. Whats
really necessary is to find new therapeutic targets to slow down the rate of progression of a
disease that affects many people. This is relevant to my research because it shows new
experiments are being done to try and find a solution for the lives being affected by Huntingtons
disease.