Chapter 2 Banking brain tissue for research
Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 145 Author(s): Natasja Klioueva, Jasper Bovenberg, Inge Huitinga Well-characterized human brain tissue is crucial for scientific breakthroughs in research of the human brain and brain diseases. However, the collection, characterization, management, and accessibility of brain human tissue are rather complex. Well-characterized human brain tissue is often provided from private, sometimes small, brain tissue collections by (neuro)pathologic experts. However, to meet the increasing demand for human brain tissue from the scientific community, many profess...
Source: Handbook of Clinical Neurology - October 4, 2017 Category: Neurology Source Type: research
Chapter 1 Techniques in neuropathology
Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 145 Author(s): Irina Alafuzoff The primary objective for a neuropathologist is the characterization of the tissue that is being assessed and thus all available techniques ranging from naked-eye examination to assessment of genetic/epigenetic characteristics are currently applied. What is observed in the tissue obtained from a diseased subject is compared with what is observed in a healthy individual and, based on the outcome, neuropathologic definitions of diseases are constructed. Thus, with the naked eye a neuropathologist can confirm that a hemorrha...
Source: Handbook of Clinical Neurology - October 4, 2017 Category: Neurology Source Type: research
Chapter 21 Functional imaging in Huntington disease
Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 144 Author(s): Martin Niethammer, David Eidelberg Functional imaging has been increasingly used in the study of neurodegenerative diseases as such techniques can elucidate neurochemical and functional changes that cannot be captured with structural imaging. Unlike other neurodegenerative diseases, in Huntington disease (HD) genetic testing allows for diagnostic certainty. Thus, the focus has been on understanding the pathophysiogic processes underlying the development of the disease, as well as the identification of potential biomarkers to monitor dis...
Source: Handbook of Clinical Neurology - September 25, 2017 Category: Neurology Source Type: research
Chapter 20 Structural imaging in premanifest and manifest Huntington disease
Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 144 Author(s): Rachael I. Scahill, Ralph Andre, Sarah J. Tabrizi, Elizabeth H. Aylward Huntington disease (HD) neuropathology has a devastating effect on brain structure and consequently brain function; neuroimaging provides a means to assess these effects in gene carriers. In this chapter we first outline the unique utility of structural imaging in understanding HD and discuss some of the acquisition and analysis techniques currently available. We review the existing literature to summarize what we know so far about structural brain changes across ...
Source: Handbook of Clinical Neurology - September 25, 2017 Category: Neurology Source Type: research
Chapter 19 Cognitive assessment in Huntington disease clinical drug trials
Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 144 Author(s): Julie C. Stout, Sophie C. Andrews, Yifat Glikmann-Johnston Several Huntington disease (HD) clinical trials are in progress and on the horizon. Potential treatments are increasingly being targeted at ameliorating the cognitive decline in HD. This necessitates a careful consideration of trial designs, including endpoint strategies suitable for testing cognitive function. The aim of this chapter is to evaluate and consider the use of cognitive measures in HD clinical trials. We first consider the role of cognition in clinical trial endpoi...
Source: Handbook of Clinical Neurology - September 25, 2017 Category: Neurology Source Type: research
Chapter 18 Motor outcome measures in Huntington disease clinical trials
Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 144 Author(s): Ralf Reilmann, Robin Schubert Deficits in motor function are a hallmark of Huntington disease (HD). The Unified Huntington's Disease Rating Scale Total Motor Score (UHDRS-TMS) is a categoric clinical rating scale assessing multiple domains of motor disability in HD. The UHDRS-TMS or subsets of its items have served as primary or secondary endpoints in numerous clinical trials. In spite of a well-established video-based annual online certification system, intra- and interrater variability, subjective error, and rater-induced placebo effe...
Source: Handbook of Clinical Neurology - September 25, 2017 Category: Neurology Source Type: research
Chapter 17 New symptomatic therapies for Huntington disease
Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 144 Author(s): Anindita Deb, Samuel Frank, Claudia M. Testa Huntington disease (HD), an inherited neurodegenerative disease, results from a CAG repeat expansion creating mutant huntingtin protein and widespread neuronal damage. Motor symptoms such as chorea are often preceded by cognitive and behavioral changes. Tetrabenazine and deutetrabebenazine are the two drugs approved by the Federal Food and Drug Administrationfor HD symptoms, is an effective therapy for chorea. However, there is still a large need for other symptomatic therapies impacting fun...
Source: Handbook of Clinical Neurology - September 25, 2017 Category: Neurology Source Type: research
Chapter 16 Making a measurable difference in advanced Huntington disease care
Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 144 Author(s): Carol Brown Moskowitz, Ashwini K. Rao Neurologists’ role in the care of people with advanced Huntington disease (HD) (total functional capacity <7), often limited by a lack of clinical research to support good practice, includes the following: (1) provide comprehensive health records to an interdisciplinary care staff before admission to a more intense care setting (home health services, day program, assisted living, group home, long-term skilled nursing facility, palliative care); (2) consult with and refer to rehabilitation (...
Source: Handbook of Clinical Neurology - September 25, 2017 Category: Neurology Source Type: research
Chapter 15 The impact of Huntington disease on young people
Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 144 Author(s): Matthew Ellison This chapter covers the challenges young people impacted by Huntington's disease (HD) experience on a daily basis. Research suggests young people in HD families are twice as likely to struggle with issues such as self-harm, depression, anxiety etc. Yet support for young people in HD families is generally lacking. Young people in HD families have to face their own genetic risk for HD, caregiving responsibilities, social isolation, financial woes, educational impact on top of witnessing their family member progressing with ...
Source: Handbook of Clinical Neurology - September 25, 2017 Category: Neurology Source Type: research
Chapter 14 Contemporary health care for Huntington disease
Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 144 Author(s): Mary C. Edmondson, Lavonne Goodman Providing medical care for people and families affected by Huntington disease (HD) can be a rewarding effort when realistic goals of improved quality of life and optimized functional status are set. Multiple disease symptoms can remit or improve with currently available pharmacologic and behavioral interventions, even though barriers exist that interfere with access to treatment. Connecting expert multidisciplinary teams with community-based care, developing treatment guidelines, and involving the HD f...
Source: Handbook of Clinical Neurology - September 25, 2017 Category: Neurology Source Type: research
Chapter 13 The role of rehabilitation therapy in Huntington disease
Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 144 Author(s): Lori Quinn, Monica Busse The role of rehabilitation interventions is increasingly considered a key component to effective management of people with Huntington disease (HD). Lifestyle factors, such as activity level and exercise, as well as specific motor training may be helpful in managing the functional sequelae of HD and possibly slowing disease progression. In this chapter, we focus on the role of rehabilitation therapy in secondary and tertiary prevention of the potentially devastating consequences of HD. We provide a brief overview...
Source: Handbook of Clinical Neurology - September 25, 2017 Category: Neurology Source Type: research
Chapter 12 Medical management of motor manifestations of Huntington disease
Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 144 Author(s): Elizabeth A. McCusker, Clement T. Loy The motor and movement disorders of Huntington disease (HD) are managed in the context of the other disease features. Chorea and dystonia are the most common HD-associated movement disorders, and they can be assessed on research rating scales. However other motor manifestations have a significant impact. In particular, dysphagia influences choice and tolerance of treatment for the movement disorder, as will comorbidities, patient awareness, and distress related to the motor feature or movement. Trea...
Source: Handbook of Clinical Neurology - September 25, 2017 Category: Neurology Source Type: research
Chapter 11 Medical treatment of behavioral manifestations of Huntington disease
Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 144 Author(s): Erik van Duijn Almost all patients with Huntington disease (HD) show some form of behavioral changes during the disease progression. These behavioral manifestations may already be present before cognitive or motor symptoms become apparent, and vary from subtle anxiety to severe psychosis and suicide attempts. These behavioral manifestations are related to both psychologic factors, like the burden of having a severe disease, and biologic factors that are related to the disease itself. In this chapter, both nonpharmacologic and pharmacolog...
Source: Handbook of Clinical Neurology - September 25, 2017 Category: Neurology Source Type: research
Chapter 10 Genetic testing for Huntington disease
Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 144 Author(s): Kimberly A. Quaid In 1983, Huntington disease (HD) became the first disease to be mapped to a previously unknown location on chromosome 4. This discovery meant that we could now identify whether some individuals at risk for HD would develop HD in the future using a method called linkage testing. Testing was first offered through research protocols designed to assess whether testing could be done safely in this population. Testing guidelines were soon developed by the Huntington's Disease Society of America and the International Huntingto...
Source: Handbook of Clinical Neurology - September 25, 2017 Category: Neurology Source Type: research
Chapter 9 Preimplantation genetics and other reproductive options in Huntington disease
Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 144 Author(s): Jan K. Blancato, Erin Wolfe, Preston C. Sacks Preimplantation genetic diagnosis (PGD) is a form of prenatal diagnosis applied to potential parents with known carrier status of a genetic disease, such as Huntington disease. It employs the use of polymerase chain reaction to amplify single cells from early embryos obtained with in vitro fertilization (IVF) techniques. PGD allows the couple the chance to have a pregnancy and livebirth child without Huntington disease, although there are some risks and expenses related to the procedures. S...
Source: Handbook of Clinical Neurology - September 25, 2017 Category: Neurology Source Type: research
