Second Annual Huntington Disease Clinical Research Symposium

Neurotherapeutics, 2010

To be held on Saturday, 21 November 2009 in the Constel-lation Ballroom at the Hyatt Regency, Baltimore, Maryland, USA. This activity has been planned and implemented in accor-dance with the Essential Areas and Policies of the Accredita-tion Council for ...

Neurotherapeutics, 2008

This activity has been planned and implemented in accordance with the Essential Areas and Policies of the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians. The University of Rochester School of Medicine and Dentistry designates this educational activity for a maximum of 4.75 credits in the AMA PRA Category 1 Credit™ system. Physicians should claim credit only commensurate with the extent of their participation in the activity.

Neurotherapeutics

Background: Huntington's disease (HD) results in motor, cognitive, and psychosocial impairments. Little is known about the specific relationships among cognitive, psychosocial, and simple and complex motor task performance. Objective: The objective of this pilot study was to explore performance on motor, cognitive, and behavioral measures between individuals with HD and healthy controls, and to determine the relationships among specific domains of cognitive function and motor function and pain. Methods: Individuals with HD and healthy controls performed a battery of cognitive, motor, and survey measures (i.e., fall reports, quality of life, and pain) in a single session. We examined differences between individuals with HD and controls, as well as relationships among motor, cognitive, and survey measures. Results: Four individuals with HD (mean(SD) age: 62.5(14.5); symptom duration: 5.8(7.1); 1 female) and six healthy controls (age: 50.7(9.7); 6 females) completed this study. There was no significant difference between groups for age, gender, or years of education. As expected, individuals with HD performed significantly worse on motor and cognitive testing, as evidenced by slower walking (p = 0.019), poorer lower extremity coordination (p = 0.038), poorer working memory (p = 0.010), and worse pain severity (p = 0.010). Poorer working memory was significantly related to poorer performance timed walking (r = − 0.705; p = 0.023); lower extremity coordination (r = − 0.657; p = 0.039); and dual-tasks (r = − 0.760; p = 0.011), as well as reports of more falls (r = − 0.709; p = 0.022). Poorer cognitive processing speed was specifically related to worse dual-task performance (r = − 0.733; p = 0.016). Worse pain severity was significantly related to slower timed walking (r = 0.679; p = 0.031); poorer lower extremity coordination (r = 0.743; p = 0.014); and worse dual-task performance (r = 0.731; p = 0.016), as well as poorer working memory (r > − 0.811; p < 0.004) and reports of more falls (r = 0.713; p = 0.021). Conclusions: Individuals with HD experience declines in motor and cognitive performance, as well as increased pain, compared to healthy controls. Quick and easily administered motor tests, such as timed walking and lower extremity coordination, as well as surveys to assess pain, may be useful in determining underlying cognitive impairments in working memory and processing speed. Assessment of these factors may help clinicians to tailor rehabilitation protocols to improve outcomes in persons with HD.

Movement Disorders, 2012

neurodegenerative disorder characterized by chorea, behavioral manifestations, and dementia. The aim of this study was to estimate the incidence and prevalence of HD through a systematic review of the literature. Medline and Embase databases were searched using terms specific to HD as well as studies of incidence, prevalence, and epidemiology. All studies reporting the incidence and/or prevalence of HD were included. Twenty original research articles were included. Eight studies examined incidence, and 17 studies examined prevalence. Meta-analysis of data from four incidence studies revealed an incidence of 0.38 per 100,000 per year (95% confidence interval [CI]: 0.16, 0.94).

The Lancet, 2007

Search strategy and selection criteria I searched Pub Med from 1965-2005 for the term "Huntington's Disease" cross referenced with the terms "apoptosis", "axonal transport", "mitochondria", "animal model", "proteosome", "transcription", "juvenile", "suicide", "neurotransmitters", "age of onset", "identical twins", "neurodegeneration", and "imaging". I translated all non-English language publications that resulted from this search strategy. I mainly selected articles from the past fi ve years, but did not exclude commonly referenced and highly regarded older publications. I also searched the reference lists of articles identifi ed by this search strategy and selected those that I judged relevant. Several review articles and book chapters were included because they provide comprehensive overviews beyond the scope of this Seminar. The reference list was further modifi ed during the peer-review process based on comments from the reviewers. Year Event Publications (n)* 1374 Epidemic dancing mania described .. 1500 Paracelsus suggests CNS origin for chorea .. 1686 Thomas Sydenham describes post-infectious chorea .. 1832 John Elliotson identifi es inherited form of chorea 1 .. 1872 George Huntington characterises Huntington's disease 5 ..

International Psychogeriatrics, 2011

European Journal of Public Health Studies

Huntington&#39;s disease (HD) is an incurable lethal inherited neurological disorder of brain cells caused by increased CAG repeats in the huntingtin gene. It is the disease of mind and body which causes uncontrolled movements, loss of intellectual faculties, and emotional disturbance leading to eventual death. HD is incurable, but treatment is available for the symptoms of this disease. Latest technologies and techniques are used to diagnose HD. Neuroimaging and genetic testing are two important diagnoses techniques are available to measure the progress of the disease at any later stage. Drastic research is underway to control the disease with neuro-transplantation and neuro-surgery as a potential treatment in future to cure HD. The advancements in science and technologies and research on HD have indicated bright chances of cure. In the future, this disease seems to become curable Huntington&#39;s disease. Article visualizations:

Journal of the Neurological Sciences, 2016

The European Huntington's Disease Network (EHDN) commissioned an international task force to provide global evidence-based recommendations for everyday clinical practice for treatment of Huntington's disease (HD). The objectives of such guidelines are to standardize pharmacological, surgical and non-pharmacological treatment regimen and improve care and quality of life of patients. A formalized consensus method, adapted from the French Health Authority recommendations was used. First, national committees (French and English Experts) reviewed all studies published between 1965 and 2015 included dealing with HD symptoms classified in motor, cognitive, psychiatric, and somatic categories. Quality grades were attributed to these studies based on levels of scientific evidence. Provisional recommendations were formulated based on the strength and the accumulation of scientific evidence available. When evidence was not available, recommendations were framed based on professional agreement. A European Steering committee supervised the writing of the final recommendations through a consensus process involving two rounds of online questionnaire completion with international multidisciplinary HD health professionals. Patients' associations were invited to review the guidelines including the HD symptoms. Two hundred and nineteen statements were retained in the final guidelines. We suggest to use this adapted method associating evidence base-medicine and expert consensus to other rare diseases.

Schweizer Archiv für Neurologie und Psychiatrie, 2006

opment of curative treatments. They include metabolic support, neurotrophic intervention, cell replacement, transcriptional regulation and reducing the expression of the causative gene using small interfering RNA.