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Sample records for huntington eugene robison

  1. From state eugenics to private eugenics.

    Science.gov (United States)

    Missa, J N

    1999-12-01

    Eugenics--or 'the cultivation of a race'--is a concept dating from the latter part of the 19th century. It preceded the new science of genetics by merely 25 years. Negative eugenics stressed especially the exclusion of negative characteristics and was associated with the practice and theory of radical eugenics between the two World Wars. In order to redress 'the decline of the race', reinforcement by positive eugenics was also advocated. After the atrocities committed by the Nazis there was a lull in the practice and discourse of eugenics. More recent technical advances in assisted reproduction techniques and the genome project, however, have revived the eugenics debate. State eugenics and eugenics as an individual choice ought to be distinguished.

  2. Greek theories on eugenics.

    OpenAIRE

    Galton, D J

    1998-01-01

    With the recent developments in the Human Genome Mapping Project and the new technologies that are developing from it there is a renewal of concern about eugenic applications. Francis Galton (b1822, d1911), who developed the subject of eugenics, suggested that the ancient Greeks had contributed very little to social theories of eugenics. In fact the Greeks had a profound interest in methods of supplying their city states with the finest possible progeny. This paper therefore reviews the works...

  3. Greek theories on eugenics.

    Science.gov (United States)

    Galton, D J

    1998-08-01

    With the recent developments in the Human Genome Mapping Project and the new technologies that are developing from it there is a renewal of concern about eugenic applications. Francis Galton (b1822, d1911), who developed the subject of eugenics, suggested that the ancient Greeks had contributed very little to social theories of eugenics. In fact the Greeks had a profound interest in methods of supplying their city states with the finest possible progeny. This paper therefore reviews the works of Plato (The Republic and Politics) and Aristotle (The Politics and The Athenian Constitution) which have a direct bearing on eugenic techniques and relates them to methods used in the present century.

  4. Huntington's disease

    DEFF Research Database (Denmark)

    Hjermind, Lena Elisabeth; Law, Ian; Jønch, Aia

    2011-01-01

    In this open-label pilot study, the authors evaluated the effect of memantine on the distribution of brain glucose metabolism in four Huntington's disease (HD) patients as determined by serial 18-fluoro-deoxyglucose [F(18)]FDG-PET scans over a period of 3-4 months (90-129 days, with one patient...

  5. Eugenics and genetic testing.

    Science.gov (United States)

    Holtzman, N A

    1998-01-01

    Pressures to lower health-care costs remain an important stimulus to eugenic approaches. Prenatal diagnosis followed by abortion of affected fetuses has replaced sterilization as the major eugenic technique. Voluntary acceptance has replaced coercion, but subtle pressures undermine personal autonomy. The failure of the old eugenics to accurately predict who will have affected offspring virtually disappears when prenatal diagnosis is used to predict Mendelian disorders. However, when prenatal diagnosis is used to detect inherited susceptibilities to adult-onset, common, complex disorders, considerable uncertainty is inherent in the prediction. Intolerance and the resurgence of genetic determinism are current pressures for a eugenic approach. The increasing use of carrier screening (to identify those at risk of having affected offspring) and of prenatal diagnosis could itself generate intolerance for those who refuse the procedures. Genetic determinism deflects society from social action that would reduce the burden of disease far more than even the maximum use of eugenics.

  6. [Sterilization and eugenics].

    Science.gov (United States)

    Shasha, Shaul M

    2011-04-01

    The term "eugenics" was coined by Francis Galton in 1883 and was defined as the science of the improvement of the human race by better breeding. "Positive eugenics" referred to methods of encouraging the "most fit" to reproduce more often, while "negative eugenics" was related to ways of discouraging or preventing the "less fit" from reproducing by birth control and sterilization. Many western countries adopted eugenics programs including Britain, Canada, Norway, Australia, Switzerland and others. In Sweden more then 62,000 "unfits" were forcibly sterilized. Many states in the U.S.A. had adopted marriage laws with eugenics criteria including forced sterilization. Approximately 64,000 individuals were sterilized. Eugenics considerations also lay behind the adoption of the Immigration Restriction Act of 1924. The Largest plan on eugenics was adopted by the Nazi regime in Germany. Hundreds of thousands of people, who were viewed as being "unfit", were forcibly sterilized by different methods: Surgical sterilization or castration with severe complications and high mortality rates. X-ray irradiation. The method was suggested by Brack, and tested by Schuman using prisoners in Block No. 10 in Auschwitz and Birkenau. Experiments were also performed by Brack on prisoners using the "window method". "Klauberg method"--injection of irritating materials into the uterus. Experiments were conducted using the plant Caladium Seguinum which was believed to have sterilization and castration properties.

  7. Filming eugenics: teaching the history of eugenics through film.

    Science.gov (United States)

    Ooten, Melissa; Trembanis, Sarah

    2007-01-01

    In teaching eugenics to undergraduate students and general public audiences, film should he considered as a provocative and fruitful medium that can generate important discussions about the intersections among eugenics, gender, class, race, and sexuality. This paper considers the use of two films, A Bill of Divorcement and The Lynchburg Story, as pedagogical tools for the history of eugenics. The authors provide background information on the films and suggestions for using the films to foster an active engagement with the historical eugenics movement.

  8. Medical Genetics Is Not Eugenics

    Science.gov (United States)

    Cowan, Ruth Schwartz

    2008-01-01

    The connection that critics make between medical genetics and eugenics is historically fallacious. Activists on the political right are as mistaken as activists on the political left: Genetic screening was not eugenics in the past, is not eugenics in the present, and, unless its technological systems become radically transformed, will not be…

  9. Psychopathology in Huntington's disease

    NARCIS (Netherlands)

    Duijn, Erik van

    2010-01-01

    Dit proefschrift begint met een overzichtsartikel van oorspronkelijke onderzoek naar psychopathologie bij mutatiedragers voor de ziekte van Huntington. Aansluitend worden de resultaten van een cohortstudie naar de aanwezigheid en ernst van psychopathologie bij mensen met de ziekte van Huntington in

  10. Anton's syndrome and eugenics

    DEFF Research Database (Denmark)

    Kondziella, Daniel; Frahm-Falkenberg, Siska

    2011-01-01

    to the clinical neurosciences, including pioneering work in neurosurgery, neuropsychology, and child psychiatry. However, it has not been recognized in the English literature that Anton was also a dedicated advocate of eugenics and racial hygiene. This paper provides a case of Anton's syndrome and puts the works...

  11. [Eugenics: morality or pragmatism].

    Science.gov (United States)

    Gómez Fröde, Carina

    2013-01-01

    The subject of eugenics is as old as humanity itself, but since World War II it has been related almost automatically with the policies and practices implemented by the National Socialist regime. This happened despite the fact that these despicable practices were inspired by legislation in place in the United Sates since the 19th century and which, in some cases, were modified until the 1970's. Today, some state governments are still paying compensation to victims of these policies.

  12. Down syndrome: coercion and eugenics.

    Science.gov (United States)

    McCabe, Linda L; McCabe, Edward R B

    2011-08-01

    Experts agree that coercion by insurance companies or governmental authorities to limit reproductive choice constitutes a eugenic practice. We discuss discrimination against families of children with Down syndrome who chose not to have prenatal testing or chose to continue a pregnancy after a prenatal diagnosis. We argue that this discrimination represents economic and social coercion to limit reproductive choice, and we present examples of governmental rhetoric and policies condoning eugenics and commercial policies meeting criteria established by experts for eugenics. Our purpose is to sensitize the clinical genetics community to these issues as we attempt to provide the most neutral nondirective prenatal genetic counseling we can, and as we provide postnatal care and counseling to children with Down syndrome and their families. We are concerned that if eugenic policies and practices targeting individuals with Down syndrome and their families are tolerated by clinical geneticists and the broader citizenry, then we increase the probability of eugenics directed toward other individuals and communities.

  13. In vitro eugenics.

    Science.gov (United States)

    Sparrow, Robert

    2014-11-01

    A series of recent scientific results suggest that, in the not-too-distant future, it will be possible to create viable human gametes from human stem cells. This paper discusses the potential of this technology to make possible what I call 'in vitro eugenics': the deliberate breeding of human beings in vitro by fusing sperm and egg derived from different stem-cell lines to create an embryo and then deriving new gametes from stem cells derived from that embryo. Repeated iterations of this process would allow scientists to proceed through multiple human generations in the laboratory. In vitro eugenics might be used to study the heredity of genetic disorders and to produce cell lines of a desired character for medical applications. More controversially, it might also function as a powerful technology of 'human enhancement' by allowing researchers to use all the techniques of selective breeding to produce individuals with a desired genotype. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  14. Learning about Huntington's Disease

    Science.gov (United States)

    Skip to main content Learning About Huntington's Disease Enter Search Term(s): Español Research Funding An Overview Bioinformatics Current Grants Education and Training Funding Extramural Research ...

  15. Eugenics and modern biology: critiques of eugenics, 1910-1945.

    Science.gov (United States)

    Allen, Garland E

    2011-05-01

    Eugenics in most western countries in the first four decades of the 20th century was based on the idea that genes control most human phenotypic traits, everything from physical features such as polydactyly and eye colour to physiological conditions such as the A-B-O blood groups to mental and personality traits such as "feeblemindedness," alcoholism and pauperism. In assessing the development of the eugenics movement-its rise and decline between 1900 and 1950-it is important to recognise that its naïve assumptions and often flawed methodologies were openly criticised at the time by scientists and nonscientists alike. This paper will present a brief overview of the critiques launched against eugenicists' claims, particularly criticisms of the American school led by Charles B. Davenport. Davenport's approach to eugenics will be contrasted to his British counterpart, Karl Pearson, founder and first editor of the Annals of Eugenics. It was not the case that nearly everyone in the early 20th century accepted eugenic conclusions as the latest, cutting-edge science. There are lessons from this historical approach for dealing with similar naïve claims about genetics today. © 2011 The Author Annals of Human Genetics © 2011 Blackwell Publishing Ltd/University College London.

  16. Eugenics: The Threat of the Feeble Minded.

    Science.gov (United States)

    Winzer, Margaret; O'Connor, Anne

    1982-01-01

    The history of the eugenics movement is reviewed. The authors conclude that, despite changed terminology and a shifting emphasis, advocacy of eugenics and its discrimination against poor and mentally retarded persons still persists today. (MC)

  17. VT Data - Zoning 20120709, Huntington

    Data.gov (United States)

    Vermont Center for Geographic Information — Zoning district data for the Town of Huntington, Vermont. For details regarding each zoning district refer to the current zoning regulations on town of Huntington's...

  18. Human Eugenics: Whose Perception of Perfection?

    Science.gov (United States)

    Mehta, Parendi

    2000-01-01

    Provides historical information on the science of eugenics beginning in ancient Greece. Discusses the use of "racial hygiene" by the Nazis' Third Reich and its effect on eugenics. Addresses the pros and cons of eugenics and genetic engineering. Includes an annotated bibliography. (CMK)

  19. Eugenics in Education: Apologetics for Oppression

    Science.gov (United States)

    Hartlep, Nicholas D.

    2008-01-01

    For many people an esoteric educational topic is eugenics. This brief text analysis will provide a textual as well as contextual analysis of Dr. Ann Gibson Winfield's book (2007) Eugenics and Education in America: Institutionalized Racism and the Implications of History, Ideology, and Memory. Winfield objectively critiques eugenic apologetics.…

  20. Moderate eugenics and human enhancement.

    Science.gov (United States)

    Selgelid, Michael J

    2014-02-01

    Though the reputation of eugenics has been tarnished by history, eugenics per se is not necessarily a bad thing. Many advocate a liberal new eugenics--where individuals are free to choose whether or not to employ genetic technologies for reproductive purposes. Though genetic interventions aimed at the prevention of severe genetic disorders may be morally and socially acceptable, reproductive liberty in the context of enhancement may conflict with equality. Enhancement could also have adverse effects on utility. The enhancement debate requires a shift in focus. What the equality and/or utility costs of enhancement will be is an empirical question. Rather than philosophical speculation, more social science research is needed to address it. Philosophers, meanwhile, should address head-on the question of how to strike a balance between liberty, equality, and utility in cases of conflict (in the context of genetics).

  1. "Eugenics talk" and the language of bioethics.

    Science.gov (United States)

    Wilkinson, S

    2008-06-01

    In bioethical discussions of preimplantation genetic diagnosis and prenatal screening, accusations of eugenics are commonplace, as are counter-claims that talk of eugenics is misleading and unhelpful. This paper asks whether "eugenics talk", in this context, is legitimate and useful or something to be avoided. It also looks at the extent to which this linguistic question can be answered without first answering relevant substantive moral questions. Its main conclusion is that the best and most non-partisan argument for avoiding eugenics talk is the Autonomy Argument. According to this, eugenics talk per se is not wrong, but there is something wrong with using its emotive power as a means of circumventing people's critical-rational faculties. The Autonomy Argument does not, however, tell against eugenics talk when such language is used to shock people into critical-rational thought. These conclusions do not depend on unique features of eugenics: similar considerations apply to emotive language throughout bioethics.

  2. Eugenics Past and Present: Remembering Buck v. Bell.

    Science.gov (United States)

    Berson, Michael J.; Cruz, Barbara

    2001-01-01

    Provides background information about the eugenics movement. Focuses on eugenics in the United States detailing the case, Buck v. Bell, and eugenics in Germany. Explores the present eugenic movement, focusing on "The Bell Curve," China's one child policy, and the use of eugenic sterilizations in the United States and Canada. Includes…

  3. Eugenics, medicine and psychiatry in Peru.

    Science.gov (United States)

    Stucchi-Portocarrero, Santiago

    2018-03-01

    Eugenics was defined by Galton as 'the science which deals with all influences that improve the inborn qualities of a race'. In Peru, eugenics was related to social medicine and mental hygiene, in accordance with the neo-Lamarckian orientation, that predominated in Latin America. Peruvian eugenists assumed the mission of fighting hereditary and infectious diseases, malnutrition, alcoholism, drug addiction, prostitution, criminality and everything that threatened the future of the 'Peruvian race'. There were some enthusiastic advocates of 'hard' eugenic measures, such as forced sterilization and eugenic abortion, but these were never officially implemented in Peru (except for the compulsory sterilization campaign during the 1995-2000 period). Eugenics dominated scientific discourse during the first half of the twentieth century, but eugenic discourse did not disappear completely until the 1970s.

  4. Selling eugenics: the case of Sweden.

    Science.gov (United States)

    Bjorkman, Maria; Widmalm, Sven

    2010-12-20

    This paper traces the early (1910s to 1920s) development of Swedish eugenics through a study of the social network that promoted it. The eugenics network consisted mainly of academics from a variety of disciplines, but with medicine and biology dominating; connections with German scientists who would later shape Nazi biopolitics were strong. The paper shows how the network used political lobbying (for example, using contacts with academically accomplished MPs) and various media strategies to gain scientific and political support for their cause, where a major goal was the creation of a eugenics institute (which opened in 1922). It also outlines the eugenic vision of the institute's first director, Herman Lundborg. In effect the network, and in particular Lundborg, promoted the view that politics should be guided by eugenics and by a genetically superior elite. The selling of eugenics in Sweden is an example of the co-production of science and social order.

  5. Evangelizing Eugenics: A Brief Historiography of Popular and Formal American Eugenics Education (1908-1948)

    Science.gov (United States)

    Kohlman, Michael J.

    2012-01-01

    This article examines the history of the American Eugenics movement's penetration into the formal and popular educational milieu during the first half of the 20th Century, and includes a review of some recent scholarly research on eugenic themes in education and popular culture. Apologists have dismissed the American Eugenics movement as a…

  6. Huntington\\'s disease: Genetic heterogeneity in black African patients

    African Journals Online (AJOL)

    Objective. Huntington's disease (HD) has been reported to occur rarely in black patients. A new genetic variant– Huntington's disease-like 2 (HDL2) – occurring more frequently in blacks, has recently been described. The absence of an expanded trinucleotide repeat at the chromosome 4 HD locus was previously regarded ...

  7. Perspectives: Eugenics and Sterilization in the Heartland.

    Science.gov (United States)

    Wehmeyer, Michael L.

    2003-01-01

    Noting the Governor of Virginia's recent apology for his state's participation in eugenics, this article reviews the history of the sterilization of people with epilepsy and mental retardation in several states, and the importance of the Buck v. Bell (1927) Supreme Court decision in the promotion of eugenics. (Contains references.) (CR)

  8. Eugenics and Curriculum: 1860-1929.

    Science.gov (United States)

    Selden, Steven

    1978-01-01

    Examines ideas about heredity, racism, and the development of the eugenics movement, which influenced curriculum thinkers in the period of the "naturalistic mind" and progressivism; the eugenics movement's influence upon education for the gifted; and continuing similar attitudes as to the limited effect of environment on individuals…

  9. [Sir Francis Galton: the father of eugenics].

    Science.gov (United States)

    Aubert-Marson, Dominique

    2009-01-01

    Not only was Sir Francis Galton a famous geographer and statistician, he also invented "eugenics" in 1883. Eugenics, defined as the science of improving racial stock, was developed from a new heredity theory, conceived by Galton himself, and from the evolution theory of Charles Darwin, transposed to human society by Herbert Spencer. Galton's eugenics was a program to artificially produce a better human race through regulating marriage and thus procreation. Galton put particular emphasis on "positive eugenics", aimed at encouraging the physically and mentally superior members of the population to choose partners with similar traits. In 1904, he presented his ideas in front of a vast audience of physicians and scientists in London. His widely-publicized lecture served as the starting point for the development of eugenics groups in Europe and the United States during the first half of the 20th century.

  10. Eugenics concept: from Plato to present.

    Science.gov (United States)

    Güvercin, C H; Arda, B

    2008-01-01

    All prospective studies and purposes to improve cure and create a race that would be exempt of various diseases and disabilities are generally defined as eugenic procedures. They aim to create the "perfect" and "higher" human being by eliminating the "unhealthy" prospective persons. All of the supporting actions taken in order to enable the desired properties are called positive eugenic actions; the elimination of undesired properties are defined as negative eugenics. In addition, if such applications and approaches target the public as a whole, they are defined as macro-eugenics. On the other hand, if they only aim at individuals and/or families, they are called micro-eugenics. As generally acknowledged, Galton re-introduced eugenic proposals, but their roots stretch as far back as Plato. Eugenic thoughts and developments were widely accepted in many different countries beginning with the end of the 19th to the first half of the 20th centuries. Initially, the view of negative eugenics that included compulsory sterilizations of handicapped, diseased and "lower" classes, resulted in tens of thousands being exterminated especially in the period of Nazi Germany. In the 1930s, the type of micro positive eugenics movement found a place within the pro-natalist policies of a number of countries. However, it was unsuccessful since the policy was not able to become effective enough and totally disappeared in the 1960s. It was no longer a fashionable movement and left a deep impression on public opinion after the long years of war. However, developments in genetics and its related fields have now enabled eugenic thoughts to reappear under the spotlight and this is creating new moral dilemmas from an ethical perspective.

  11. Clinical neurogenetics: huntington disease.

    Science.gov (United States)

    Bordelon, Yvette M

    2013-11-01

    Huntington disease (HD) is an autosomal dominant, adult-onset, progressive neurodegenerative disease characterized by the triad of abnormal movements (typically chorea), cognitive impairment, and psychiatric problems. It is caused by an expanded CAG repeat in the gene encoding the protein huntingtin on chromosome 4 and causes progressive atrophy of the striatum as well as cortical and other extrastriatal structures. Genetic testing has been available since 1993 to confirm diagnosis in affected adults and for presymptomatic testing in at-risk individuals. This review covers HD signs, symptoms, and pathophysiology; current genetic testing issues; and current and future treatment strategies. Copyright © 2013 Elsevier Inc. All rights reserved.

  12. Eugenics visualized: the exhibit of the Third International Congress of Eugenics, 1932.

    Science.gov (United States)

    Stillwell, Devon

    2012-01-01

    This article investigates the exhibit of the Third International Congress of Eugenics, which was organized by Harry Hamilton Laughlin and showcased at the American Museum of Natural History in 1932. It argues that the exhibit's displays shaped popular eugenic ideology by connecting particular eugenic principles to specific visual representations that were experienced in relation to binaries such as the artistically traditional and the modern, the classical and the grotesque, and the scientific and the spectacle (or the "freak" and the medical specimen). These dichotomies were, in turn, experienced within the context of the exhibit's overall theme of eugenics as anchored in the past and the future and concern over the differential birthrate. The exhibit to the Third Congress provides insight into growing tensions within the eugenics movement of the 1930s, the importance of positive eugenics, the aesthetics of heredity, and how the "scientific truths" of a given era are publicized and perpetuated.

  13. Huntington's disease presenting as amyotrophic lateral sclerosis.

    LENUS (Irish Health Repository)

    Phukan, Julie

    2010-08-01

    We present the clinical, electrophysiological and molecular genetic findings of a 58-year-old male with genetically confirmed Huntington\\'s disease (HD) and concurrent clinically definite ALS by El Escorial criteria. The patient presented with asymmetric upper limb amyotrophy and weakness, and subsequently developed chorea and cognitive change. Genetic testing confirmed the presence of expanded trinucleotide repeats in huntingtin, consistent with a diagnosis of Huntington\\'s disease. This case confirms the rare coexistence of Huntington\\'s disease and motor neuron degeneration.

  14. Christianity and Eugenics: The Place of Religion in the British Eugenics Education Society and the American Eugenics Society, c.1907–1940

    Science.gov (United States)

    Baker, Graham J.

    2014-01-01

    Historians have regularly acknowledged the significance of religious faith to the eugenics movement in Britain and the USA. However, much of this scholarship suggests a polarised relationship of either conflict or consensus. Where Christian believers participated in the eugenics movement this has been represented as an abandonment of ‘orthodox’ theology, and the impression has been created that eugenics was a secularising force. In contrast, this article explores the impact of religious values on two eugenics organisations: the British Eugenics Education Society, and the American Eugenics Society. It is demonstrated that concerns over religion resulted in both these organisations modifying and tempering the public work that they undertook. This act of concealing and minimising the visibly controversial aspects of eugenics is offered as an addition to the debate over ‘mainline’ versus ‘reform’ eugenics. PMID:24778464

  15. Christianity and Eugenics: The Place of Religion in the British Eugenics Education Society and the American Eugenics Society, c.1907-1940.

    Science.gov (United States)

    Baker, Graham J

    2014-05-01

    Historians have regularly acknowledged the significance of religious faith to the eugenics movement in Britain and the USA. However, much of this scholarship suggests a polarised relationship of either conflict or consensus. Where Christian believers participated in the eugenics movement this has been represented as an abandonment of 'orthodox' theology, and the impression has been created that eugenics was a secularising force. In contrast, this article explores the impact of religious values on two eugenics organisations: the British Eugenics Education Society, and the American Eugenics Society. It is demonstrated that concerns over religion resulted in both these organisations modifying and tempering the public work that they undertook. This act of concealing and minimising the visibly controversial aspects of eugenics is offered as an addition to the debate over 'mainline' versus 'reform' eugenics.

  16. The eugenic legacy in psychology and psychiatry.

    Science.gov (United States)

    Pilgrim, David

    2008-05-01

    Assumptions about genetic differences in human mental characteristics can be traced in large part to the eugenic movement, ascendant at the turn of the 20th century. This paper offers historical case studies, of 'innate general cognitive ability' and 'psychiatric genetics', in order to appraise the eugenic legacy in current psychology and psychiatry. Reviewing the work of representatives, Cyril Burt, Franz Kallmann and Eliot Slater, along with their research networks, it is argued that eugenics remains a quiet but powerful background influence in modern-day psychology and psychiatry. At the turn of the 21st century, eugenics remains an important area of inquiry, reflection and education for those in the inter-disciplinary field of social psychiatry.

  17. Eugenics and public health in American history.

    Science.gov (United States)

    Pernick, M S

    1997-11-01

    Supporters of eugenics, the powerful early 20th-century movement for improving human heredity, often attacked that era's dramatic improvements in public health and medicine for preserving the lives of people they considered hereditarily unfit. Eugenics and public health also battled over whether heredity played a significant role in infectious diseases. However, American public health and eugenics had much in common as well. Eugenic methods often were modeled on the infection control techniques of public health. The goals, values, and concepts of disease of these two movements also often overlapped. This paper sketches some of the key similarities and differences between eugenics and public health in the United States, and it examines how their relationship was shaped by the interaction of science and culture. The results demonstrate that eugenics was not an isolated movement whose significance is confined to the histories of genetics and pseudoscience, but was instead an important and cautionary part of past public health and a general medical history as well.

  18. Eugenics and Involuntary Sterilization: 1907-2015.

    Science.gov (United States)

    Reilly, Philip R

    2015-01-01

    In England during the late nineteenth century, intellectuals, especially Francis Galton, called for a variety of eugenic policies aimed at ensuring the health of the human species. In the United States, members of the Progressive movement embraced eugenic ideas, especially immigration restriction and sterilization. Indiana enacted the first eugenic sterilization law in 1907, and the US Supreme Court upheld such laws in 1927. State programs targeted institutionalized, mentally disabled women. Beginning in the late 1930s, proponents rationalized involuntary sterilization as protecting vulnerable women from unwanted pregnancy. By World War II, programs in the United States had sterilized approximately 60,000 persons. After the horrific revelations concerning Nazi eugenics (German Hereditary Health Courts approved at least 400,000 sterilization operations in less than a decade), eugenic sterilization programs in the United States declined rapidly. Simplistic eugenic thinking has faded, but coerced sterilization remains widespread, especially in China and India. In many parts of the world, involuntary sterilization is still intermittently used against minority groups.

  19. The public and private history of eugenics: an introduction.

    Science.gov (United States)

    Burke, Chloe S; Castaneda, Christopher J

    2007-01-01

    Inspired by our experience addressing the legacy of eugenics at California State University, Sacramento, this special issue presents an array of articles representative of diverse approaches to the historical investigation of eugenics. This article provides an introduction to the history of eugenics and explores the ways in which public history is particularly well suited to shape the historical memory of eugenics and encourage dialogue about contemporary biotechnologies.

  20. Social imaginaries: the literature of eugenics.

    Science.gov (United States)

    Sinclair, Alison

    2008-06-01

    This paper starts from a premise relating to the act of fictional writing about eugenics and the way it may be understood as the embodiment and enactment of social imaginaries. It proposes that literature (in the sense of fiction) frequently, if not habitually, expresses the underside of what is expressed in public discourse. That is, far from being the implement of state policy or intervention, it acts in counterpoint to the state, constituting a type of social fantasy in that it explores through the realm of the imagination what might happen. It becomes the arena for contestation, exploration, and nuancing as it essays how ideas from public, 'real' life, might transform when acted out. The paper considers two sorts of literary case. First it looks at that of 'naïve' literature, harnessed unashamedly to a specific sociological discourse of eugenics. Then, using primarily Ibsen, it considers a subset, the case of literature that does not set out to be explicitly in the service of the cause of eugenics, but is appropriated and disseminated from a platform of eugenics. Lastly, taking the example of Unamuno's Amor y pedagogía (1902) the paper considers literature that exists in a quite different sphere of public awareness. It shows awareness of the arguments and precepts of eugenics and related beliefs and practices, but acts as a transitional space (in the terms of Winnicott) to enable such ideas to be entertained and thought about, without a requirement of acceptance or belief.

  1. Eugenics and the Social Construction of Merit, Race, and Disability.

    Science.gov (United States)

    Selden, Steven

    2000-01-01

    Contends that eugenics is an example of normalization. Outlines an aspect of this process by analyzing: (1) the popular eugenic knowledge exhibited at U.S. state fairs; and (2) the mainstream eugenic knowledge found in the work of Leta S. Hollingworth who was an early leader in gifted education. (CMK)

  2. Eugenics in the community: gendered professions and eugenic sterilization in Alberta, 1928-1972.

    Science.gov (United States)

    Samson, Amy

    2014-01-01

    Scholarship on Alberta's Sexual Sterilization Act (1928-1972) has focused on the high-level politics behind the legislation, its main administrative body, the Eugenics Board, and its legal legacy, overlooking the largely female-dominated professions that were responsible for operating the program outside of the provincial mental health institutions. This paper investigates the relationship between eugenics and the professions of teaching, public health nursing, and social work. It argues that the Canadian mental hygiene and eugenics movements, which were fundamentally connected, provided these professions with an opportunity to maintain and extend their professional authority.

  3. Project Coast: eugenics in apartheid South Africa.

    Science.gov (United States)

    Singh, Jerome Amir

    2008-03-01

    It is a decade since the exposure of Project Coast, apartheid South Africa's covert chemical and biological warfare program. In that time, attention has been focused on several aspects of the program, particularly the production of narcotics and poisons for use against anti-apartheid activists and the proliferation of both chemical and biological weapons. The eugenic dimension of Project Coast has, by contrast, received scant attention. It is time to revisit the testimony that brought the suggestion of eugenic motives to light, reflect on some of the Truth and Reconciliation Commission's findings and search for lessons that can be taken from this troubled chapter in South Africa's history.

  4. Music therapy in Huntington's disease

    NARCIS (Netherlands)

    Bruggen-Rufi, van C.H.M.

    2018-01-01

    The thesis reports about the effects of music therapy with patients in the late stage of Huntington's disease. A literature review, a focus group study, a randomized controlled trial, an evaluation for complex interventions and a case report study are integrated in the thesis. The beneficial

  5. Eugene Jolas: A Poet of Multilingualism

    Science.gov (United States)

    Kelbert, Eugenia

    2015-01-01

    Eugene Jolas, the first-time publisher of James Joyce's Finnegans Wake (1939 / 2012), started his career as a translingual journalist and poet. A French-German bilingual, Jolas acquired English in adolescence, crossing the Atlantic to refashion himself as an American man of letters. A "Man from Babel," as he styles himself in his…

  6. Eugen Rosenstock-Huessy--An Andragogical Pioneer

    Science.gov (United States)

    Loeng, Svein

    2013-01-01

    Eugen Rosenstock-Huessy's work related to andragogy is insufficiently discussed in adult pedagogical literature, although most of his work deals with this field, if we employ his own definition of andragogy. This paper makes visible his role as an andragogical pioneer, and clarifies his understanding of andragogy and basic perspectives in his…

  7. Advertising eugenics: Charles M. Goethe's campaign to improve the race.

    Science.gov (United States)

    Schoenl, William; Peck, Danielle

    2010-06-01

    Over the last several decades historians have shown that the eugenics movement appealed to an extraordinarily wide constituency. Far from being the brainchild of the members of any one particular political ideology, eugenics made sense to a diverse range of Americans and was promoted by professionals ranging from geneticists and physicians to politicians and economists.(1) Seduced by promises of permanent fixes to national problems, and attracted to the idea of a scientifically legitimate form of social activism, eugenics quickly grew in popularity during the first decades of the twentieth century. Charles M. Goethe, the land developer, entrepreneur, conservationist and skilled advertiser who founded the Eugenics Society of Northern California, exemplifies the broad appeal of the eugenics movement. Goethe played an active role within the American eugenics movement at its peak in the 1920s. The last president of the Eugenics Research Association,(2) he also campaigned hard against Mexican immigration to the US and he continued open support for the Nazi regime's eugenic practices into the later 1930s.(3) This article examines Goethe's eugenic vision and, drawing on his correspondence with the leading geneticist Charles Davenport, explores the relationship between academic and non-academic advocates of eugenics in America. Published by Elsevier Ltd.

  8. Better science and better race? Social Darwinism and Chinese eugenics.

    Science.gov (United States)

    Chung, Yuehtsen Juliette

    2014-12-01

    This essay explores the variegated roles played by racial, eugenic, and Social Darwinist discourse in China over roughly the last century. Using Japan as a parallel for comparison, it analyzes the introduction of the term "eugenics" into Japanese and Chinese. It then locates the deployment of eugenics and Social Darwinism as counterimperial discourse in East Asia. It offers a brief history of eugenics thinking in China across the twentieth century, focusing on the Chinese eugenicist Pan Guangdan, who used race as a category of analysis yet without any sense of hierarchy. He was critically aware of the scientific basis of eugenics and helped craft the study of eugenics in China, from biology to sociology, from economics to ethnology.

  9. Eugenics: some lessons from the past.

    Science.gov (United States)

    Galton, D J

    2005-03-01

    Eugenics was first debated by the ancient Greeks, particularly Plato and Aristotle, developed in the nineteenth century by Francis Galton and Charles Darwin, and then abused in the twentieth century by right-wing politicians. With the new methods of assisted conception combined with the use of genetic markers, all the old problems of eugenics have resurfaced. Gender selection, embryo selection, preimplantation genetic diagnosis of common disease, and gene replacement techniques (somatic cells) have added greatly to the power of the modern eugenicist. How are these procedures to be monitored and regulated? What is the role of the State compared with individual families for the implementation of the new methodologies? Some of these issues will be discussed.

  10. A Canadian paradox: Tommy Douglas and eugenics.

    Science.gov (United States)

    Shevell, Michael

    2012-01-01

    Tommy Douglas is an icon of Canadian 20th Century political history and is considered by many as the "Father" of Medicare, a key component of our national identity. Throughout his career, he was associated at both the provincial and federal levels with progressive causes concerning disadvantaged populations. In his sociology Master's thesis written in the early 1930's, Douglas endorsed eugenic oriented solutions such as segregation and sterilization to address what was perceived to be an endemic and biologically determined problem. At first glance, this endorsement of eugenics appears to be paradoxical, but careful analysis revealed that this paradox has multiple roots in religion, political belief, historical exposure and our own desire to view our collective history in a favourable light.

  11. Huntington's disease: a perplexing neurological disease ...

    African Journals Online (AJOL)

    Huntington's disease is an inherited intricate brain illness. It is a neurodegenerative, insidious disorder; the onset of the disease is very late to diagnose. It is caused by an expanded CAG repeat in the Huntingtin gene, which encodes an abnormally long polyglutamine repeat in the Huntingtin protein. Huntington's disease ...

  12. Huntington's disease : Psychological aspects of predictive testing

    NARCIS (Netherlands)

    Timman, Reinier

    2005-01-01

    Predictive testing for Huntington's disease appears to have long lasting psychological effects. The predictive test for Huntington's disease (HD), a hereditary disease of the nervous system, was introduced in the Netherlands in the late eighties. As adverse consequences of the test were

  13. Eugen Bleuler 150: Bleuler's reception of Freud.

    Science.gov (United States)

    Dalzell, Thomas G

    2007-12-01

    On the 150th anniversary of Eugen Bleuler's birth, this article examines his reception of Sigmund Freud and his use of Freudian theory to understand the symptoms of schizophrenia. In addition, in contrast to earlier interpretations of Bleuler's relationship with Freud in terms of an eventual personal and theoretical incompatibility, the article demonstrates that, although Bleuler did distance himself from the psychoanalytic movement, he remained consistent in his views on Freud's theories.

  14. Sterilization in Finland: from eugenics to contraception.

    Science.gov (United States)

    Hemminki, E; Rasimus, A; Forssas, E

    1997-12-01

    The purpose of this paper was to describe the transition of sterilization in Finland from an eugenic tool to a contraceptive. Historical data were drawn from earlier reports in Finnish. Numbers of and reasons for sterilizations since 1950 were collected from nationwide sterilization statistics. Prevalence, characteristics of sterilized women, and women's satisfaction with sterilizations were studied from a 1994 nationwide survey (74% response rate). Logistic regression was used for adjustments. In the first half of the 20th century, eugenic ideology had influence in Finland as in other parts of Europe, and the 1935 and 1950 sterilization laws had an eugenic spirit. Regardless of this, the numbers of eugenic sterilizations remained low, and in practice, family planning was the main reason for sterilization. Nonetheless, prior to 1970 not all sterilizations were freely chosen, because sterilizations were sometimes used as a precondition for abortion. Female sterilizations showed remarkable fluctuation over time. Male sterilizations have been rare. The reasons stipulated by the law did not explain the numbers of sterilizations. In a 1994 survey, 9% of Finnish women reported they were using sterilization as their current contraceptive method (n = 189). Compared to women using other contraceptive methods, sterilized women were older, had had more births and pregnancies, and came from lower social classes. Sterilized women were satisfied with their sterilization, but there were women (8.5%) who regretted it. In conclusion, sterilizations have been and are likely to continue to be an important family planning method in Finland. The extreme gender ratio suggests a need for promoting male sterilizations, and women's expressed regrets suggest consideration of a higher age limit.

  15. 77 FR 35366 - Albany-Eugene Transmission Line Rebuild Project

    Science.gov (United States)

    2012-06-13

    ... materials, removing vegetation including danger trees, and revegetating areas disturbed by construction... implement the Proposed Action Alternative, based on the Albany-Eugene Transmission Line Rebuild Project (DOE...

  16. Back to the future: eugenics--a bibliographic essay.

    Science.gov (United States)

    Cullen, David

    2007-01-01

    The following essay is a review of the literature about the American eugenics movement produced by scholars over the last fifty years. The essay provides an explanation for today's renewed interest in the subject and for why the science of eugenics remains relevant to contemporary society. The essay examines the catalyst to re-examine the eugenics movement, the influence of Darwinian thought upon its development, the political and institutional support for its growth, the relationship between eugenics, sterilization, and sex, and how the twentieth-century promises of the science of better breeding was a precursor to the twenty-first-century promise of genetic engineering.

  17. Eugenia e casamento Eugenics and marriage

    Directory of Open Access Journals (Sweden)

    Luzia Aurelia Castañeda

    2003-12-01

    Full Text Available Analisaremos algumas estratégias eugênicas para melhoramento da raça baseadas no controle de matrimônios. Para tanto, vamos buscar no contexto da Inglaterra vitoriana a preocupação com o casamento; tanto na obra de Thomas Malthus, quando interessado no crescimento populacional, como na de Francis Galton, quando propõe a eugenia como uma ciência do melhoramento das qualidades inatas da raça. Discutiremos também como tal medida de controle de matrimônios se deu no movimento eugênico brasileiro e sua influência na elaboração do Código Civil.This analysis of some eugenic strategies for "improving the race" through the control of marriages explores Victorian England's concern with matrimony as expressed in the works of Thomas Malthus, who was interested in population growth, and of Francis Galton, who proposed that eugenics be used as a science to "improve" the innate qualities of the race. The article also discusses how this matrimonial means of control was expressed within the Brazilian eugenics movement and how it influenced the drafting of the Brazilian Civil Code.

  18. Donor insemination: eugenic and feminist implications.

    Science.gov (United States)

    Hanson, F A

    2001-09-01

    One concern regarding developments in genetics is that, when techniques such as genetic engineering become safe and affordable, people will use them for positive eugenics: to "improve" their offspring by enpowering them with exceptional qualities. Another is whether new reproductive technologies are being used to improve the condition of women or as the tools of a patriarchal system that appropriates female functions to itself and exploits women to further its own ends. Donor insemination is relevant to both of these issues. The degree to which people have used donor insemination in the past for positive eugenic purposes may give some insight into the likelihood of developing technologies being so used in the future. Donor insemination provides women with the opportunity to reproduce with only the most remote involvement of a man. To what degree do women take advantage of this to liberate themselves from male dominance? Through questionnaires and interviews, women who have used donor insemination disclosed their criteria for selecting sperm donors. The results are analyzed for the prevalence of positive eugenic criteria in the selection process and women's attitudes toward minimizing the male role in reproduction.

  19. Obituary: Eugene Richard Tomer, 1932-2007

    Science.gov (United States)

    Dunkl, Charles F.

    2009-01-01

    Dr. Eugene R. Tomer passed away on 2 July 2007 at his home in San Francisco, California. The cause of death was cancer. Tomer was a consulting applied mathematician with a wide range of interests in dynamical astronomy, electromagnetic theory for use in communications, and computational methods of applied mathematics. He was a member of AAS, and the Society for Applied and Industrial Mathematics [SIAM]. With K. H. Prendergast, he co-wrote the influential paper "Self-consistent Models of Elliptical Galaxies," published in the Astronomical Journal 75 (1970), 674-679. This paper has been cited over eighty times. Tomer was born on 13 June 1932. He earned the Ph.D. in Mathematics at the University of California-Berkeley in 1978 (title of dissertation: On the C*-algebra of the Hermite Operator). In 1996 he and A. F. Peterson wrote "Meeting the Challenges Presented by Computational Electromagnetics," a publication of the Naval Postgraduate School at Monterey, California. This writer met Eugene at the 1992 Annual SIAM meeting in Los Angeles in connection with the Activity Group on Orthogonal Polynomials and Special Functions, which the writer chaired at the time. Eugene volunteered to edit the Newsletter of the group, which he did from July 1992 to July 1995. Thanks to his skills and efforts, the Newsletter became a carefully edited, professional publication. Eugene not only organized a Problems Column, attracting questions in pure and applied mathematics, but he also designed the logo for the group. He gave much time and effort to this service, in an era when copy had to be physically assembled and mailed to SIAM Headquarters. Eventually he felt he had done what he could for the Activity Group. He told me that he hoped the Group would get seriously involved with applications such as in astronomy, physics, and sciences that use special function solutions of differential equations. During Tomer's editorship, we communicated mostly by e-mail, our homes being far apart. He

  20. Psychiatric symptoms and CAG expansion in Huntington`s disease

    Energy Technology Data Exchange (ETDEWEB)

    Weber, M.W.; Schmid, W.; Spiegel, R. [Univ. of Zuerich (Switzerland)

    1996-02-16

    The mutation responsible for Huntington`s disease (HD) is an elongated CAG repeat in the coding region of the IT15 gene. A PCR-based test with high sensitivity and accuracy is now available to identify asymptomatic gene carriers and patients. An inverse correlation between CAG copy number and age at disease onset has been found in a large number of affected individuals. The influence of the CAG repeat expansion on other phenotypic manifestations, especially specific psychiatric symptoms has not been studied intensively. In order to elucidate this situation we investigated the relation between CAG copy number and distinct psychiatric phenotypes found in 79 HD-patients. None of the four differentiated categories (personality change, psychosis, depression, and nonspecific alterations) showed significant differences in respect to size of the CAG expansion. In addition, no influence of individual sex on psychiatric presentation could be found. On the other hand in patients with personality changes maternal transmission was significantly more frequent compared with all other groups. Therefore we suggest that clinical severity of psychiatric features in HD is not directly dependent on the size of the dynamic mutation involved. The complex pathogenetic mechanisms leading to psychiatric alterations are still unknown and thus genotyping does not provide information about expected psychiatric symptoms in HD gene carriers. 40 refs., 1 fig., 2 tabs.

  1. Rational subjects, marriage counselling and the conundrums of eugenics.

    Science.gov (United States)

    Gerodetti, Natalia

    2008-06-01

    Against the background of degeneration and the perceived threat to the nation's health and stock, family politics came to constitute an important site for eugenic discourses and interventions. Eugenic regulation of reproductive sexuality and marriage was not only pursued through 'negative' eugenics but also through educational policies targeted at young adults and youth. Switzerland serves as a useful case to explore a general idea, namely the limitations for eugenicists of exploiting the concept of a rational subject in order to achieve their ends. Practices of 'positive eugenics' crucially hinged on the utilitarian principle of rationality underpinning positive eugenics which this paper seeks to elaborate. Eugenicists devised tools to deal efficiently with social problems on a collective as well as an individual basis by deploying technologies of government which conceived individuals to be members of a population who were each held responsible for the generation of healthy future generations. As a form of 'sustaining, multiplying and ordering life' eugenics thus relied on the premise that its ideas would be adopted through an appeal to rationality and, where this was insufficient, through a series of coercive measures. Relying on conviction and education about the merits of eugenics, however, posed particular problems to positive eugenic thinking and practice.

  2. Eugenics, Mental Deficiency and Fabian Socialism between the Wars.

    Science.gov (United States)

    Ray, L. J.

    1983-01-01

    Eugenics was not exclusively the concern of conservatives; it also appealed to certain socialists, particularly those whose middle class status was dependent upon their expert services and who believed that social problems could be resolved scientifically. Reasons for the appeal of eugenics to this group are discussed. (IS)

  3. Science in the Publicity Laboratory: The Case of Eugenics.

    Science.gov (United States)

    Caudill, Edward

    The eugenicists of the 1920s and 1930s aggressively pursued media attention and sought policy change for their cause of improving the human race by selective breeding. Eugenics gained momentum in the United States when the American Eugenics Society (AES) was organized in 1921. Policy formation and information dissemination were central to the…

  4. [Eugenics, an element of the literary plots of dystopia].

    Science.gov (United States)

    Baum, Ewa; Musielak, Michał

    2007-01-01

    The work presents the ideas and assumptions of eugenics, a social philosophy established in 1883 by Francis Galton, which affected the social policies of numerous European countries in the first half of the 20th century. The work shows the effect of eugenics on the literary standards of European prose in the previous century. Two outstanding dystopian novels of the 20th century, The Brave New World by Aldous Huxley and 1984 by George Orwell, situate eugenics as a permanent element of the literary plot of dystopia. Apart from the typical features of this type of novel, for example: personal narration with a trace of irony, a totalitarian state and Newspeak, eugenics is an important element of the literary plot with is aim to exclude and marginalise certain social groups. Eugenics is also one of the main social ideas criticised by both the writers.

  5. Current eugenics: A brand new challenge for scientific disciplines

    Directory of Open Access Journals (Sweden)

    María de las Mercedes O´Lery

    2006-01-01

    Full Text Available Until now, the parameters that distinguish the current eugenic practices form those encased in classic eugenics have been the private, individual and therapeutic characteristics of the first as opposed to the collective, coercive and improvement nature of the second. However, the present ethical debate over biotechnologies (particularly, criticism of liberal eugenics by such authors as Jürgen Habermas has given rise to the need to consider, in the future, genetic treatment as an object of the redistribution in order to avoid the discrimination implied in the impossibility of access to such treatment. The present paper attempts to show that this pretension would lead to the future dissolution of those very characteristics of current eugenics that distinguish it from the classic form. we therefore propose an epistemological analysis of present and/or future scientific practices in order to redefine those parameters that prevent their identification with the eugenic movement of the past century.

  6. Luis Huerta: Eugenics, Medicine and Pedagogy in Spain

    Directory of Open Access Journals (Sweden)

    Luis Miguel LÁZARO LORENTE

    2013-11-01

    Full Text Available By comparison with the historiography of other European and Anglo-Saxon countries, the study of the origins and spread of Eugenics in Spain has not received much attention. Even less research has been done on the degree of acceptance of eugenic thought in the pedagogical domain or on the role teachers may have in the diffusion of eugenics. This paper attempts to explore the subject while focusing the analysis on the relations that were established among Medicine, Pedagogy and Eugenics in Spain during the first third of the 20th century. We will take as a point of reference and guiding line of thought the figure of the Asturian teacher Luis Huerta Naves, who was the driving force and tireless advocate of the eugenics movement in our country.

  7. Personality Traits in Huntington's Disease

    DEFF Research Database (Denmark)

    Larsen, Ida Unmack; Mortensen, Erik Lykke; Vinther-Jensen, Tua

    2016-01-01

    Huntington's disease (HD) is associated with risk for developing psychiatric symptoms. Vulnerability or resilience to psychiatric symptoms may be associated with personality traits. This exploratory study, aimed to investigate personality traits in a large cohort of HD carriers and at risk gene......-expansion negative individuals (HD non-carriers), exploring whether carrying the HD gene or growing up in an HD family influences personality traits. Forty-seven HD carriers, Thirty-nine HD non-carriers, and 121 healthy controls answered the Danish version of the revised NEO personality inventory. Comparisons...... symptoms. Our findings suggest that, there is no direct effect of the HD gene on personality traits, but that personality assessment may be relevant to use when identifying individuals from HD families who are vulnerable to develop psychiatric symptoms....

  8. Clinical presentation of juvenile Huntington disease

    Directory of Open Access Journals (Sweden)

    Ruocco Heloísa H.

    2006-01-01

    Full Text Available OBJECTIVE: To describe the clinical presentation a group of patients with juvenile onset of Huntington disease. METHOD: All patients were interviewed following a structured clinical questioner. Patients were genotyped for the trinucleotide cytosine-adenine-guanine (CAG repeat in the Huntington Disease gene. High resolution brain MRI was performed in all patients. RESULTS: We identified 4 patients with juvenile onset of disease among 50 patients with Huntington disease followed prospectively in our Neurogenetics clinic. Age at onset varied from 3 to 13 years, there were 2 boys, and 3 patients had a paternal inheritance of the disease. Expanded Huntington disease allele sizes varied from 41 to 69 trinucleotide repeats. The early onset patients presented with rigidity, bradykinesia, dystonia, dysarthria, seizures and ataxia. MRI showed severe volume loss of caudate and putamen nuclei (p=0.001 and reduced cerebral and cerebellum volumes (p=0.01. CONCLUSION: 8% of Huntington disease patients seen in our clinic had juvenile onset of the disease. They did not present with typical chorea as seen in adult onset Huntington disease. There was a predominance of rigidity and bradykinesia. Two other important clinical features were seizures and ataxia, which related with the imaging findings of early cortical atrophy and cerebellum volume loss.

  9. Huntington's disease: a clinical review

    Directory of Open Access Journals (Sweden)

    Roos Raymund AC

    2010-12-01

    Full Text Available Abstract Huntington disease (HD is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. Prevalence in the Caucasian population is estimated at 1/10,000-1/20,000. Mean age at onset of symptoms is 30-50 years. In some cases symptoms start before the age of 20 years with behavior disturbances and learning difficulties at school (Juvenile Huntington's disease; JHD. The classic sign is chorea that gradually spreads to all muscles. All psychomotor processes become severely retarded. Patients experience psychiatric symptoms and cognitive decline. HD is an autosomal dominant inherited disease caused by an elongated CAG repeat (36 repeats or more on the short arm of chromosome 4p16.3 in the Huntingtine gene. The longer the CAG repeat, the earlier the onset of disease. In cases of JHD the repeat often exceeds 55. Diagnosis is based on clinical symptoms and signs in an individual with a parent with proven HD, and is confirmed by DNA determination. Pre-manifest diagnosis should only be performed by multidisciplinary teams in healthy at-risk adult individuals who want to know whether they carry the mutation or not. Differential diagnoses include other causes of chorea including general internal disorders or iatrogenic disorders. Phenocopies (clinically diagnosed cases of HD without the genetic mutation are observed. Prenatal diagnosis is possible by chorionic villus sampling or amniocentesis. Preimplantation diagnosis with in vitro fertilization is offered in several countries. There is no cure. Management should be multidisciplinary and is based on treating symptoms with a view to improving quality of life. Chorea is treated with dopamine receptor blocking or depleting agents. Medication and non-medical care for depression and aggressive behavior may be required. The progression of the disease leads to a complete dependency in daily life, which

  10. On the concept of eugenics: preliminaries to a critical appraisal

    Directory of Open Access Journals (Sweden)

    Demetrio Neri

    Full Text Available This paper's main issue is linked to what can be foreseen as the increasing capability of medical genetics to modify the genetic composition of the human species through direct interventions in the human genome for medical and non-medical purposes, i.e., the 'risk' of a resurgence of eugenics. In current discussions on the topic (briefly presented in the first section, the 'phantom of eugenics' is raised several times, but there is a great deal of confusion on what counts as eugenics, partly because of broad conceptual disagreement over the notion itself. Furthermore, according to some scholars there is no hope of overcoming this unsatisfactory conceptual uncertainty. Partly challenging this opinion, the second and third sections of this paper attempt to identify some basic features which could be seen as intrinsically linked to the notion of eugenics, with the aim of reducing the range of conceptual disagreement as a preliminary step in bringing into focus what exactly is wrong with practicing eugenics. The subsequent sections deal with the substantive issue of whether or not to practice eugenics from the point of view of the interest of future generations in the human species' genetic composition. The main moral arguments for and against eugenics are examined from the point of view of our obligations towards future generations, and the conclusion is in favor of a cautious 'open-door' position.

  11. Eugenics talk” and the language of bioethics

    Science.gov (United States)

    Wilkinson, S

    2008-01-01

    In bioethical discussions of preimplantation genetic diagnosis and prenatal screening, accusations of eugenics are commonplace, as are counter-claims that talk of eugenics is misleading and unhelpful. This paper asks whether “eugenics talk”, in this context, is legitimate and useful or something to be avoided. It also looks at the extent to which this linguistic question can be answered without first answering relevant substantive moral questions. Its main conclusion is that the best and most non-partisan argument for avoiding eugenics talk is the Autonomy Argument. According to this, eugenics talk per se is not wrong, but there is something wrong with using its emotive power as a means of circumventing people’s critical–rational faculties. The Autonomy Argument does not, however, tell against eugenics talk when such language is used to shock people into critical–rational thought. These conclusions do not depend on unique features of eugenics: similar considerations apply to emotive language throughout bioethics. PMID:18511622

  12. On the concept of eugenics: preliminaries to a critical appraisal

    Directory of Open Access Journals (Sweden)

    Neri Demetrio

    1999-01-01

    Full Text Available This paper's main issue is linked to what can be foreseen as the increasing capability of medical genetics to modify the genetic composition of the human species through direct interventions in the human genome for medical and non-medical purposes, i.e., the 'risk' of a resurgence of eugenics. In current discussions on the topic (briefly presented in the first section, the 'phantom of eugenics' is raised several times, but there is a great deal of confusion on what counts as eugenics, partly because of broad conceptual disagreement over the notion itself. Furthermore, according to some scholars there is no hope of overcoming this unsatisfactory conceptual uncertainty. Partly challenging this opinion, the second and third sections of this paper attempt to identify some basic features which could be seen as intrinsically linked to the notion of eugenics, with the aim of reducing the range of conceptual disagreement as a preliminary step in bringing into focus what exactly is wrong with practicing eugenics. The subsequent sections deal with the substantive issue of whether or not to practice eugenics from the point of view of the interest of future generations in the human species' genetic composition. The main moral arguments for and against eugenics are examined from the point of view of our obligations towards future generations, and the conclusion is in favor of a cautious 'open-door' position.

  13. Discrepancies in reporting the CAG repeat lengths for Huntington's disease

    DEFF Research Database (Denmark)

    Quarrell, Oliver W; Handley, Olivia; O'Donovan, Kirsty

    2011-01-01

    Huntington's disease results from a CAG repeat expansion within the Huntingtin gene; this is measured routinely in diagnostic laboratories. The European Huntington's Disease Network REGISTRY project centrally measures CAG repeat lengths on fresh samples; these were compared with the original...

  14. [Beyond eugenics: posthumanism as Homo patiens denials].

    Science.gov (United States)

    Ballesteros Llompart, Jesús

    2012-01-01

    Throughout history there have been attempts to overcome human limitations by means of technique. The novelty of the 20th century has been to try to extirpate all the faults, the suffering, the disease, and even the death. This power has been attributed successively to machines (the futurism), to the genetic information (the eugenism) and to the electronic information (the posthumanism). In all cases, it's unknown the distinction between inevitable faults, ontological deficiencies, as the reality of death, and avoidable ones, sociological deficiencies, as the deaths due to circumstances as lack of drinkable water, of medicaments, wars or any other type of violence. The due way of confronting the human faults is to try to eradicate their avoidable causes and at the same time to understand the sense of those that cannot be avoided, as occasion of the self-overcoming and the opening to the Transcendence.

  15. Eugene Wigner and nuclear energy: a reminiscence

    International Nuclear Information System (INIS)

    Weinberg, A.M.

    1987-01-01

    Dr. Weinberg reviews Wigner's contributions in each of the fields to which he contributed: designs for fast breeders and thermal breeders and some of the earliest calculations on water moderated cooling systems; Clinton Laboratories, 1946-47, The Materials Testing Reactor (MTR); gas-cooled reactors; the Nautilus; Savannah River Reactors, Project Hope; a chemical plant that would reprocess spent fuel at an affordable cost in a full-fledged breeder; reactor physics and general engineering; microscopic reactor theory; spherical harmonics method; correction to the sphericized cell calculation, the fast effect; macroscopic reactor theory; two-group theory; perturbation theory; control rod theory (statics); kinetics; pile oscillator; shielding; fission products; temperature effects; The Wigner-Wilkins Distribution; solid state physics; the Wigner Disease; neutron diffraction; and general energy policy. Eugene Wigner was one of the early contributors to the debate on the role of nuclear power

  16. Eugenics without the state: anarchism in Catalonia, 1900-1937.

    Science.gov (United States)

    Cleminson, Richard

    2008-06-01

    Current historiography has considered eugenics to be an emanation from state structures or a movement which sought to appeal to the state in order to implement eugenic reform. This paper examines the limitations of that view and argues that it is necessary to expand our horizons to consider particularly working-class eugenics movements that were based on the dissemination of knowledge about sex and which did not aspire to positions of political power. The paper argues that anarchism, with its contradictory practice afforded by the convulsive social situation of the Civil War in Spain, allows us to assess critically the parameters of the social action of eugenics, its many alliances, and its struggle for existence in changing political circumstances not of its own making.

  17. Between Germanic and Latin eugenics: Portugal, 1930-1960

    Directory of Open Access Journals (Sweden)

    Richard Mark Cleminson

    Full Text Available Abstract This article assesses critically the participation of Portuguese eugenicists in “Latin eugenics” and traces the continuities and discontinuities with respect to this model. In particular, it focuses on a number of examples of more “Germanic” eugenics in contrast and in comparison to Latin versions of eugenics. In the former category, Eusébio Tamagnini, José Ayres de Azevedo and Leopoldina Ferreira de Paulo are considered; in the latter category, especially the work of Almerindo Lessa on “racial mixing” is considered. The conclusions suggest that we should seek diversity in both Latin and northern European eugenic models while at the same time placing Portugal within the array of possible versions of eugenics during the first half of the twentieth century.

  18. Assisted procreation and its relationship to genetics and eugenics.

    Science.gov (United States)

    Ricci, Mariella Lombardi

    2009-01-01

    The article below is intended to reflect on whether or not a eugenic tendency constitutes an intrinsic element of human fertilization in vitro. The author outlines ideas and circumstances which characterized the foundation and propagation of eugenics between the eighteenth and nineteenth centuries. A brief discussion follows on some of the standard procedures of in vitro fertilization, and in particular, those which manifest a trace or hint of eugenics--heterologous fertilization and sperm banking, preimplantation genetic diagnosis (PGD) and embryo selection--practices which, nonetheless, are used on a large scale and shed light on both the essence of procreative medicine and on the current cultural environment. The objective of the article is to explore whether it is possible to eliminate the eugenic connotations without foregoing the benefits of technical and scientific progress.

  19. Perceptions of genetic discrimination among people at risk for Huntington?s disease: a cross sectional survey

    OpenAIRE

    Bombard, Yvonne; Veenstra, Gerry; Friedman, Jan M; Creighton, Susan; Currie, Lauren; Paulsen, Jane S; Bottorff, Joan L; Hayden, Michael R

    2009-01-01

    Objective To assess the nature and prevalence of genetic discrimination experienced by people at risk for Huntington?s disease who had undergone genetic testing or remained untested. Design Cross sectional, self reported survey. Setting Seven genetics and movement disorders clinics servicing rural and urban communities in Canada. Participants 233 genetically tested and untested asymptomatic people at risk for Huntington?s disease (response rate 80%): 167 underwent testing (83 had the Huntingt...

  20. Eugenics in Japan: some ironies of modernity, 1883-1945.

    Science.gov (United States)

    Otsubo, S; Bartholomew, J R

    1998-01-01

    Japanese eugenic discourse and institution building contrast sharply with comparable movements elsewhere. As a social-intellectual phenomenon, Anglo-American eugenics considered the Japanese racially inferior to Western peoples; yet eugenic ideals and policies achieved a remarkable popularity in Japan. Most of mainstream Japanese genetics was derived from orthodox Mendelian roots in Germany and (to a lesser degree) the United States. But French-style Lamarckian notions of the inheritability of acquired characters held surprising popularity among enthusiasts of eugenics. Japanese eugenicists could condemn the actions of foreign eugenicists like Charles Davenport in the United States for their efforts to forbid Japanese immigration in the 1920s, yet appeal to these same eugenicists as a source of legitimacy in Japan. These paradoxes can partly be explained against a background of relative isolation in a period of profound social change. Few Japanese eugenicists had close personal contact with foreign eugenicists, and most of their knowledge was acquired through reading rather than direct exposure. The eugenic ideal of ethnic purity was attractive to a society long accustomed to monoracial self-imagery. The need to defend national independence in an era of high imperialism seemed to require the most up-to-date policies and ideas. And Japan's own acquisition of an overseas empire seemed to demand a population management philosophy ostensibly based on scientific principles. These and other forces supported the implementation of eugenic policies and prescriptions among the Japanese people in the first half of the twentieth century.

  1. Mapping energy poverty in Huntington, West Virginia

    Science.gov (United States)

    Callicoat, Elizabeth Anne

    Energy poverty is a growing phenomenon culminating from the combination of low to mid household income, deteriorating housing structures and rising household energy costs. Energy prices are increasing for all households, but the burden is proportionally larger for those with low to mid income. These groups must sacrifice to afford energy, and are often unable or do not have the autonomy to make structural improvements, especially if they rent their home. Data on residential dwellings from the Cabell County Tax Assessor's Office was used within a geographic information system to map where energy poverty likely exists within the city limits of Huntington, WV. It was found that one fifth of Huntington households are at a high risk of energy poverty, primarily located across the northern section of the city and in the center, surrounding Marshall University, Downtown and Cabell Huntington Hospital.

  2. Reflections on the Historiography of American Eugenics: Trends, Fractures, Tensions.

    Science.gov (United States)

    Paul, Diane B

    2016-12-01

    By the 1950s, eugenics had lost its scientific status; it now belonged to the context rather than to the content of science. Interest in the subject was also at low ebb. But that situation would soon change dramatically. Indeed, in an essay-review published in 1993, Philip Pauly commented that a "eugenics industry" had come to rival the "Darwin industry" in importance, although the former seemed less integrated than the latter. Since then, the pace of publication on eugenics, including American eugenics, has only accelerated, while the field has become even more fractured, moving in multiple and even contradictory directions. This essay explores the trajectory of work on the history of American eugenics since interest in the subject revived in the 1960s, noting trends and also fractures. The latter are seen to result partly from the fact that professional historians no longer own the subject, which has attracted the interest of scholars in several other disciplines as well as scientists, political activists, and journalists, and also from the fact that the history of eugenics has almost always been policy-oriented. Historians' desire to be policy-relevant and at the same time attentive to context, complexity, and contingency has generated tensions at several levels: within individuals, among historians, and between professional historians and others who also engage with the history of eugenics. That these tensions are resolved differently by different authors and even by the same authors at different times helps explain why the fragmentation that Pauly noted is not likely to be overcome anytime soon.

  3. Kas Huntington oli prohvet? / Priit Simson

    Index Scriptorium Estoniae

    Simson Priit, 1977-

    2008-01-01

    Autor käsitleb Samuel Huntingtoni teese ning leiab, et tegelikult Huntington ei pakkunud õigustust islamiriikide ründamisele, vaid pigem hoiatas tsivilisatsioonide siseasjusse sekkumise, tekkida võiva ahelreaktsiooni eest, kus üks tsivilisatsiooni liige tõmbab sõtta ka teise

  4. Destination and source memory in Huntington's disease

    NARCIS (Netherlands)

    El Haj, M.; Caillaud, M.; Verny, C.; Fasotti, L.; Allain, P.

    2016-01-01

    Destination memory refers to the recall of the destination of previously relayed information, and source memory refers to the recollection of the origin of received information. We compared both memory systems in Huntington's disease (HD) participants. For this, HD participants and healthy adults

  5. Eugenics and American social history, 1880-1950.

    Science.gov (United States)

    Allen, G E

    1989-01-01

    Eugenics, the attempt to improve the human species socially through better breeding was a widespread and popular movement in the United States and Europe between 1910 and 1940. Eugenics was an attempt to use science (the newly discovered Mendelian laws of heredity) to solve social problems (crime, alcoholism, prostitution, rebelliousness), using trained experts. Eugenics gained much support from progressive reform thinkers, who sought to plan social development using expert knowledge in both the social and natural sciences. In eugenics, progressive reformers saw the opportunity to attack social problems efficiently by treating the cause (bad heredity) rather than the effect. Much of the impetus for social and economic reform came from class conflict in the period 1880-1930, resulting from industrialization, unemployment, working conditions, periodic depressions, and unionization. In response, the industrialist class adopted firmer measures of economic control (abandonment of laissez-faire principles), the principles of government regulation (interstate commerce, labor), and the cult of industrial efficiency. Eugenics was only one aspect of progressive reform, but as a scientific claim to explain the cause of social problems, it was a particularly powerful weapon in the arsenal of class conflict at the time.

  6. A Metabolic Study of Huntington's Disease.

    Directory of Open Access Journals (Sweden)

    Rajasree Nambron

    Full Text Available Huntington's disease patients have a number of peripheral manifestations suggestive of metabolic and endocrine abnormalities. We, therefore, investigated a number of metabolic factors in a 24-hour study of Huntington's disease gene carriers (premanifest and moderate stage II/III and controls.Control (n = 15, premanifest (n = 14 and stage II/III (n = 13 participants were studied with blood sampling over a 24-hour period. A battery of clinical tests including neurological rating and function scales were performed. Visceral and subcutaneous adipose distribution was measured using magnetic resonance imaging. We quantified fasting baseline concentrations of glucose, insulin, cholesterol, triglycerides, lipoprotein (a, fatty acids, amino acids, lactate and osteokines. Leptin and ghrelin were quantified in fasting samples and after a standardised meal. We assessed glucose, insulin, growth hormone and cortisol concentrations during a prolonged oral glucose tolerance test.We found no highly significant differences in carbohydrate, protein or lipid metabolism markers between healthy controls, premanifest and stage II/III Huntington's disease subjects. For some markers (osteoprotegerin, tyrosine, lysine, phenylalanine and arginine there is a suggestion (p values between 0.02 and 0.05 that levels are higher in patients with premanifest HD, but not moderate HD. However, given the large number of statistical tests performed interpretation of these findings must be cautious.Contrary to previous studies that showed altered levels of metabolic markers in patients with Huntington's disease, our study did not demonstrate convincing evidence of abnormalities in any of the markers examined. Our analyses were restricted to Huntington's disease patients not taking neuroleptics, anti-depressants or other medication affecting metabolic pathways. Even with the modest sample sizes studied, the lack of highly significant results, despite many being tested, suggests that

  7. The Testing and Militarization of K-12 Education: Eugenic Assault on Urban School Populations

    Science.gov (United States)

    Hartlep, Nicholas Daniel

    2010-01-01

    This paper attempts to discuss eugenics in education and how this eugenic legacy continues to haunt American schooling and nonwhite students. Eugenic praxes and pedagogy continue to proliferate inside the American school systems' teachers may be unaware that they are teaching in such a way that maintains this ethos. This paper and seminar's…

  8. The sex reform movement and eugenics in interwar Poland.

    Science.gov (United States)

    Gawin, Magdalena

    2008-06-01

    This paper focuses on the relations between a liberal group of sex reformers, consisting of writers and literary critics, and physicians from the Polish Eugenics Society in interwar Poland. It illustrates the paradoxes of the mutual co-operation between these two groups during the 1930s and analyses the reason why compulsory sterilisation was rejected by politicians. From the early 1930s two movements began to forge an alliance in Poland: the sexual reform movement which advocated freedom of the individual, and eugenics, which called for limiting the freedom of the individual for the collective good. This paper draws attention to several issues which emerged as part of this collaboration: population politics, the relationship between reformers, eugenicists and state institutions, and the question of how both movements--eugenics and sexual reform--perceived the question of sexuality, birth control and abortion. It will also focus on those aspects of their thinking that led to mutual co-operation.

  9. Eugenics, genetics, and mental illness stigma in Chinese Americans.

    Science.gov (United States)

    WonPat-Borja, Ahtoy J; Yang, Lawrence H; Link, Bruce G; Phelan, Jo C

    2012-01-01

    The increasing interest in the genetic causes of mental disorders may exacerbate existing stigma if negative beliefs about a genetic illness are generally accepted. China's history of policy-level eugenics and genetic discrimination in the workplace suggests that Chinese communities will view genetic mental illness less favorably than mental illness with non-genetic causes. The aim of this study is to identify differences between Chinese Americans and European Americans in eugenic beliefs and stigma toward people with genetic mental illness. We utilized data from a 2003 national telephone survey designed to measure how public perceptions of mental illness differ if the illness is described as genetic. The Chinese American (n = 42) and European American (n = 428) subsamples were analyzed to compare their support of eugenic belief items and measures of stigma. Chinese Americans endorsed all four eugenic statements more strongly than European Americans. Ethnicity significantly moderated the relationship between genetic attribution and three out of five stigma outcomes; however, genetic attribution actually appeared to be de-stigmatizing for Chinese Americans while it increased stigma or made no difference for European Americans. Our findings show that while Chinese Americans hold more eugenic beliefs than European Americans, these attributions do not have the same effect on stigma as they do in Western cultures. These results suggest that future anti-stigma efforts must focus on eugenic attitudes as well as cultural beliefs for Chinese Americans, and that the effects of genetic attributions for mental illness should be examined relative to other social, moral, and religious attributions common in Chinese culture.

  10. Flinders Petrie and Eugenics at UCL

    Directory of Open Access Journals (Sweden)

    Kathleen L. Sheppard

    2010-05-01

    Full Text Available William Matthew Flinders Petrie is considered the father of scientific archaeology and is credited with developing a chronology of Ancient Egypt using the nondescript artefacts that other archaeologists had ignored. He occupied the first chair of Egyptology in England, and was also well-known for the museum built around his personal collection of Egyptian artifacts at University College London. Petrie's archaeological work has been studied by scholars, from various disciplines, for its scholarly, cultural, and historical value, while Petrie's life and career outside of archaeology have been the subject of relatively little study. Petrie himself wrote two life stories: the first, 'Ten Years Digging in Egypt, 1881–1891' (1892, detailed the years before his professorship at UCL; in 1932 he published his second, more complete autobiography, 'Seventy Years in Archaeology'. After he died in 1942 there were various obituaries and memorials that outlined his life and major achievements in archaeology. There was very little written about Petrie the man until 1985, when Margaret Drower's 'Flinders Petrie: A Life in Archaeology' was published; it remains the most comprehensive work on Petrie's life. A thin volume of the correspondence of Hilda and Flinders Petrie also allows a glimpse into life on excavation. In short, much of what is known about Petrie focuses on his excavations in Egypt, his time as Professor of Egyptology at University College London, or the museum that bears his name. Subsequently, as a historical matter, Petrie's work in the discipline of eugenics has rarely been discussed as part of his career.

  11. The Wilson films--Huntington's chorea.

    Science.gov (United States)

    Klein, Christine

    2011-12-01

    Wilson's Queen Square Case 9 with Huntington's chorea shows a 68-year-old man with mild to moderate generalized chorea, impaired fixation, and probable cognitive decline in keeping with a diagnosis of Huntington's disease (HD). An age of onset in the late sixties and a negative family history suggest a relatively small expanded trinucleotide repeat in the HTT gene in the patient and reduced penetrance of an even shorter repeat allele in one of his parents. A highly sensitive and specific gene test has been offered worldwide for diagnostic testing of HD for almost two decades. This test, obviously unavailable at Wilson's times, became the historic frontrunner for guidelines of symptomatic, presymptomatic, and prenatal testing for an adult-onset neurodegenerative disorder. Regarding treatment of HD, however, we are still awaiting the successful translation of research results into the development of effective cause-directed, neuropreventive and neurorestaurative therapies. Copyright © 2011 Movement Disorder Society.

  12. [Sporadic juvenile forms of Huntington's chorea].

    Science.gov (United States)

    Zinchenko, A P; Goncharov, V D; Burtianskii, D L; Zakhar'ev, Iu M

    1980-01-01

    Six patients with Huntington's chorea in the age of 15-24 years old, suffered from diffusive choreic hyperkynesis with slowly progressive dementia. The development of this disease in childhood and adolescence was atypical, as nobody in the family and in kin sufferred from it and it was difficult to diagnose the disease. Recognition of the disease was promoted by pneumoencephalography, electromyography and memory investigation.

  13. [The characteristics of Korea's eugenic movement in the colonial period represented in the bulletin, Woosaeng].

    Science.gov (United States)

    Shin, Young-Jeon

    2006-12-01

    Woosaeng, meaning "eugenic" in Korean, was a bulletin published by the Korean Eugenics Association in 1934. With detailed review of the contributors to Woosaeng, its publication background and the contents, the characteristics of Korea's eugenic movement in 1930's and its historical implications of public health are studied. Intellectuals, especially some medical doctors educated abroad, played the pivotal role in publishing Woosaeng and leading the eugenic movement in 1930's. Lee Gabsoo, a medical doctor educated in Germany, is identified as the key person in the whole process. Most of contributors including Lee considered medical science, especially genetics, as the foundation of eugenics and had strong confidence in their belief. A variety of eugenic movements and activities, including enactment of the national eugenic law around the world. was introduced to the Korean society through Woosaeng and it reinforced the eugenic activities in Korea. Although colonial Korea at the time was being heavily imposed with Japan's culture, the eugenic activities were also influenced by Germany and the US through the contributors educated oversea. The overall content and tone of Woosaeng, revealed its 'soft' characteristics, yet it also implied its vulnerability to 'hard' eugenics. Korea's eugenic movement around Woosaeng faces turnover right before 'The Go Fast Imperialism' period. The high class intellectuals tamed by Japanese colonial paradigm in eugenics took the lead and ended up having a significant influence upon the activities around Woosaeng. And even after Koreans' liberation from Japan's annexation, they were able to retain their influence in public health area in the Korean society. In summary, Woosaeng guided us to understand the characteristics of Korea's eugenic movement in 1930's and the historical context of public health in Korea. Moreover, Woosaeng provided a large amount of information about the eugenic movements around the world as well as in Korea. It

  14. Earliest functional declines in Huntington disease

    Science.gov (United States)

    Beglinger, Leigh J.; O'Rourke, Justin J.F.; Wang, Chiachi; Langbehn, Douglas R.; Duff, Kevin; Paulsen, Jane S.

    2013-01-01

    We examined the gold standard for Huntington disease (HD) functional assessment, the Unified Huntington's Disease Rating Scale (UHDRS), in a group of at-risk participants not yet diagnosed but who later phenoconverted to manifest HD. We also sought to determine which skill domains first weaken and the clinical correlates of declines. Using the UHDRS Total Functional Capacity (TFC) and Functional Assessment Scale (FAS), we examined participants from Huntington Study Group clinics who were not diagnosed at their baseline visit but were diagnosed at a later visit (N = 265). Occupational decline was the most common with 65.1% (TFC) and 55.6% (FAS) reporting some loss of ability to engage in their typical work. Inability to manage finances independently (TFC 49.2%, FAS 35.1%) and drive safely (FAS 33.5%) were also found. Functional decline was significantly predicted by motor, cognitive, and depressive symptoms. The UHDRS captured early functional losses in individuals with HD prior to formal diagnosis, however, fruitful areas for expanded assessment of early functional changes are performance at work, ability to manage finances, and driving. These are also important areas for clinical monitoring and treatment planning as up to 65% experienced loss in at least one area prior to diagnosis. PMID:20471695

  15. Eugenic utopias/dystopias, reprogenetics, and community genetics.

    Science.gov (United States)

    Raz, Aviad E

    2009-05-01

    The impetus for this review is the intriguing realisation that eugenics, viewed as dystopian and authoritarian in most of the 20th century, is in the process of being reinterpreted today--in the context of reproductive genetics--as utopian and liberal. This review offers an analytical framework for mapping the growing literature on this subject in order to provide a summary for both teaching and research in medical sociology. Recent works are subsumed and explored in three areas: historical criticism of the 'old eugenics'; the continuation of this stream in the form of criticism of reprogenetics as a new, 'backdoor' eugenic regime of bio-governmentality--an area which also includes the application of Foucauldian and feminist perspectives; and the recent enthusiasm regarding 'liberal eugenics,' claiming that reprogenetic decisions should be left to individual consumers thus enhancing their options in the health market. The review concludes by discussing and illustrating potential research directions in this field, with a focus on the social and ethical aspects of 'community genetics' and its emerging networks of individuals genetically at risk.

  16. Echoes of a Forgotten Past: Eugenics, Testing, and Education Reform.

    Science.gov (United States)

    Stoskopf, Alan

    2002-01-01

    Review of the work of Goddard, Terman, and Thorndike and the role of eugenics and the intelligence quotient in testing points out dangers to be avoided in the current testing climate, such as use of the business model, single-number scores, and tracking. (Contains 42 references.) (SK)

  17. The Legitimizing Function of Judicial Rhetoric in the Eugenics Controversy.

    Science.gov (United States)

    Hasian, Marouf, Jr.; Croasmun, Earl

    1992-01-01

    Investigates the possibility that judicial policymaking is responsive to the situational exigencies created in part through public discourse. Investigates the elite and public perspectives regarding the eugenics controversy in the 1920s to explore the emergent relationship between the public and technical spheres of argument. (SR)

  18. What Was Wrong with Eugenics? Conflicting Narratives and Disputed Interpretations

    Science.gov (United States)

    Paul, Diane B.

    2014-01-01

    Although it is often taken for granted that eugenics is odious, exactly what makes it so is far from obvious. The existence of considerable interpretative flexibility is evident in the disparate policy lessons for contemporary reproductive genetics (or "reprogenetics") that have been derived from essentially the same set of historical…

  19. Chris Woodhead: A New Champion of Eugenic Theories

    Science.gov (United States)

    Chitty, Clyde

    2009-01-01

    Eugenic Theories are clearly alive and well in present-day society--or this is at least true of those theories relating to the passing on of abilities and talents from one generation to the next. This depressing thought was prompted by a reading of Chris Woodhead's latest book "A Desolation of Learning."

  20. The Real "Toll" of A. G. Bell: Lessons about Eugenics

    Science.gov (United States)

    Greenwald, Brian H.

    2009-01-01

    Historian Brian Greenwald offers a revisionist interpretation of Bell. He reviews Bell's role and influence within the American eugenics movement and shows that Bell had the respect of the most prominent American eugenicists. His intimate knowledge of deafness, from personal experience with his mother and wife and from his studies of deaf people…

  1. "The Bell Curve" and Carrie Buck: Eugenics Revisited.

    Science.gov (United States)

    Smith, J. David

    1995-01-01

    The 1994 publication of "The Bell Curve" by R. Herrnstein and C. Murray is compared to other examples of eugenic principles, including the sterilization of "feebleminded" Carrie Buck, family degeneracy studies focusing on lower class Caucasian families, and other works that view the poorest and least educated members of society…

  2. EUGEN SIMION – (LITERARY CRITIC – A FORM OF CHARACTER

    Directory of Open Access Journals (Sweden)

    Dr. Lucian CHIŞU

    2013-05-01

    Full Text Available The article presents the life and activity of one of the greatest contemporary Romanian literary critics. President of the Romanian Academy, member of the French Academy of Art s, Eugen Simion approached the work of classical and contemporary Romanian writers as well as that of international writers such as E. Ionescu, E. Cioran, M. Eliade, P. Popescu.

  3. Clinical and genetic data of Huntington disease in Moroccan patients

    African Journals Online (AJOL)

    Background: Huntington's disease (HD) occurs worldwide with prevalence varying from 0.1 to 10 /100,000 depending of the ethnic origin. Since no data is available in the Maghreb population, the aim of this study is to describe clinical and genetic characteristics of Huntington patients of Moroccan origin. Methods: Clinical ...

  4. Identification of genetic variants associated with Huntington's disease progression

    DEFF Research Database (Denmark)

    Hensman Moss, Davina J; Pardiñas, Antonio F; Langbehn, Douglas

    2017-01-01

    indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008-11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers...... in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234). The meta-analysis of progression......BACKGROUND: Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate...

  5. Duty or dream? Edwin G. Conklin's critique of eugenics and support for American individualism.

    Science.gov (United States)

    Cooke, Kathy J

    2002-01-01

    This paper assesses ideas about moral and reproductive duty in American eugenics during the early twentieth century. While extreme eugenicists, including Charles Davenport and Paul Popenoe, argued that social leaders and biologists must work to prevent individuals who were "unfit" from reproducing, moderates, especially Edwin G. Conklin, presented a different view. Although he was sympathetic to eugenic goals and participated in eugenic organizations throughout his life, Conklin realized that eugenic ideas rarely could meet strict hereditary measures. Relying on his experience as an embryologist, Conklin instead attempted to balance more extreme eugenic claims - that emphasized the absolute limits posed by heredity - with his own view of "the possibilities of development." Through his critique he argued that most human beings never even begin to approach their hereditary potential; he moderated his own eugenic rhetoric so that it preserved individual opportunity and responsibility, or what has often been labeled the American Dream.

  6. Arnold Gesell's progressive vision: child hygiene, socialism and eugenics.

    Science.gov (United States)

    Harris, Ben

    2011-08-01

    In October 1913, The American Magazine published an article by Arnold Gesell that portrayed Alma, Wisconsin (his hometown) as overflowing with the mentally and morally unfit. In "The Village of a Thousand Souls", Gesell called for the observation and segregation of the unfit as a eugenic measure. This article explores the reasons behind this infamous article by someone who became a famous developmental psychologist and pediatrician. Gesell's papers at the Library of Congress reveal his socialist views of poverty, injustice, and human development. The archives of his father's photography studio at the Wisconsin Historical Society reveal his manipulation of the photographic record to fit his negative view of Alma. Typical of the era, Gesell's Progressive vision combined social control and negative eugenics with egalitarianism and the benevolent engineering of the environment.

  7. R. A. Fisher: a faith fit for eugenics.

    Science.gov (United States)

    Moore, James

    2007-03-01

    In discussions of 'religion-and-science', faith is usually emphasized more than works, scientists' beliefs more than their deeds. By reversing the priority, a lingering puzzle in the life of Ronald Aylmer Fisher (1890-1962), statistician, eugenicist and founder of the neo-Darwinian synthesis, can be solved. Scholars have struggled to find coherence in Fisher's simultaneous commitment to Darwinism, Anglican Christianity and eugenics. The problem is addressed by asking what practical mode of faith or faithful mode of practice lent unity to his life? Families, it is argued, with their myriad practical, emotional and intellectual challenges, rendered a mathematically-based eugenic Darwinian Christianity not just possible for Fisher, but vital.

  8. The Collected Works of Eugene Paul Wigner the Scientific Papers

    CERN Document Server

    Wigner, Eugene Paul

    1993-01-01

    Eugene Wigner is one of the few giants of 20th-century physics His early work helped to shape quantum mechanics, he laid the foundations of nuclear physics and nuclear engineering, and he contributed significantly to solid-state physics His philosophical and political writings are widely known All his works will be reprinted in Eugene Paul Wigner's Collected Workstogether with descriptive annotations by outstanding scientists The present volume begins with a short biographical sketch followed by Wigner's papers on group theory, an extremely powerful tool he created for theoretical quantum physics They are presented in two parts The first, annotated by B Judd, covers applications to atomic and molecular spectra, term structure, time reversal and spin In the second, G Mackey introduces to the reader the mathematical papers, many of which are outstanding contributions to the theory of unitary representations of groups, including the famous paper on the Lorentz group

  9. [Application of case-based method in genetics and eugenics teaching].

    Science.gov (United States)

    Li, Ya-Xuan; Zhao, Xin; Zhang, Fei-Xiong; Hu, Ying-Kao; Yan, Yue-Ming; Cai, Min-Hua; Li, Xiao-Hui

    2012-05-01

    Genetics and Eugenics is a cross-discipline between genetics and eugenics. It is a common curriculum in many Chinese universities. In order to increase the learning interest, we introduced case teaching method and got a better teaching effect. Based on our teaching practices, we summarized some experiences about this subject. In this article, the main problem of case-based method applied in Genetics and Eugenics teaching was discussed.

  10. [Twenty-five years of screening eugenics in Spain].

    Science.gov (United States)

    Mérida Donoso, Salvador

    2012-01-01

    Over the past 25 years, the incidence of newborns with congenital defects in Spain has fallen by 56.7% primarily due to the practice of "fetal risk" abortion, after prenatal diagnosis. In some cases, such as people with Down syndrome, the strategy involves the removal of 80-90% of those affected in pregnancy. After presenting the techniques used today and statistical data, we will make a reflection about the ethical justification for prenatal diagnosis programs and practice of "eugenic" abortion.

  11. High Protein Diet and Huntington's Disease.

    Directory of Open Access Journals (Sweden)

    Chiung-Mei Chen

    Full Text Available Huntington's disease (HD is a neurodegenerative disorder caused by the huntingtin (HTT gene with expanded CAG repeats. In addition to the apparent brain abnormalities, impairments also occur in peripheral tissues. We previously reported that mutant Huntingtin (mHTT exists in the liver and causes urea cycle deficiency. A low protein diet (17% restores urea cycle activity and ameliorates symptoms in HD model mice. It remains unknown whether the dietary protein content should be monitored closely in HD patients because the normal protein consumption is lower in humans (~15% of total calories than in mice (~22%. We assessed whether dietary protein content affects the urea cycle in HD patients. Thirty HD patients were hospitalized and received a standard protein diet (13.7% protein for 5 days, followed by a high protein diet (HPD, 26.3% protein for another 5 days. Urea cycle deficiency was monitored by the blood levels of citrulline and ammonia. HD progression was determined by the Unified Huntington's Disease Rating Scale (UHDRS. The HPD increased blood citrulline concentration from 15.19 μmol/l to 16.30 μmol/l (p = 0.0378 in HD patients but did not change blood ammonia concentration. A 2-year pilot study of 14 HD patients found no significant correlation between blood citrulline concentration and HD progression. Our results indicated a short period of the HPD did not markedly compromise urea cycle function. Blood citrulline concentration is not a reliable biomarker of HD progression.

  12. Huntington disease: Experimental models and therapeutic perspectives

    International Nuclear Information System (INIS)

    Serrano Sanchez, Teresa; Blanco Lezcano, Lisette; Garcia Minet, Rocio; Alberti Amador, Esteban; Diaz Armesto, Ivan and others

    2011-01-01

    Huntington's disease (HD) is a degenerative dysfunction of hereditary origin. Up to date there is not, an effective treatment to the disease which having lapsed 15 or 20 years advances inexorably, in a slow form, toward the total inability or death. This paper reviews the clinical and morphological characteristics of Huntington's disease as well as the experimental models more commonly used to study this disease, having as source the articles indexed in Medline data base, published in the last 20 years. Advantages and disadvantages of all experimental models to reproduce the disease as well as the perspectives to therapeutic assay have been also considered. the consent of outline reported about the toxic models, those induced by neurotoxins such as quinolinic acid, appears to be the most appropriate to reproduce the neuropathologic characteristic of the disease, an genetic models contributing with more evidence to the knowledge of the disease etiology. Numerous treatments ameliorate clinical manifestations, but none of them has been able to stop or diminish the affectations derived from neuronal loss. At present time it is possible to reproduce, at least partially, the characteristics of the disease in experimentation animals that allow therapy evaluation in HD. from the treatment view point, the more promissory seems to be transplantation of no neuronal cells, taking into account ethical issues and factibility. On the other hand the new technology of interference RNA emerges as a potential therapeutic tool for treatment in HD, and to respond basic questions on the development of the disease.

  13. O desenvolvimento político em Huntington e Fukuyama Huntington and Fukuyama on political development

    Directory of Open Access Journals (Sweden)

    Natália Nóbrega de Mello

    2010-01-01

    Full Text Available O artigo contrasta as teses de Huntington e Fukuyama sobre desenvolvimento político. As obras analisadas, Ordem política nas sociedades em mudança e O fim da história, inscrevem-se entre duas conjunturas decisivas - 1968 e 1989. Huntington desmontou a equivalência entre desenvolvimento político e modernização e Fukuyama reafirmou a democracia como o destino de todos os países e, desse modo, como o fim da história. Nesta comparação, dois eixos se sobressaem: o contexto de produção das obras e a alternância entre os polos teóricos da democracia e da estabilidade. Procura-se demonstrar como, apesar de reinserir a democracia no desenvolvimento político, a instabilidade continua a ser um foco privilegiado de análise no pensamento de Fukuyama.The article contrasts the theories of Huntington and Fukuyama on political development. The analyzed works, Political order in changing societies and The end of history, fall between two decisive historical moments - in 1968 and 1989. Huntington disassembled the equivalence between political development and modernization; Fukuyama reaffirmed democracy as the destiny of all countries and, as such, it is the end of history. In this comparison, two axes call our attention: the production context of these works and the alternation between the theoreticals poles of democracy and stability. The article shows how, although reenters democracy in the political development theory, instablility remains a prime focus of analysis in Fukuyama's thought.

  14. Américo Negrette and Huntington's disease

    Directory of Open Access Journals (Sweden)

    Mariana Moscovich

    2011-08-01

    Full Text Available The authors present a historical review of the seminal clinical contribution of Professor Américo Negrette, a Venezuelan neurologist, to the evolution of scientific knowledge about Huntington's disease.

  15. Unravelling and Exploiting Astrocyte Dysfunction in Huntington's Disease

    DEFF Research Database (Denmark)

    Khakh, Baljit S.; Beaumont, Vahri; Cachope, Roger

    2017-01-01

    Astrocytes are abundant within mature neural circuits and are involved in brain disorders. Here, we summarize our current understanding of astrocytes and Huntington's disease (HD), with a focus on correlative and causative dysfunctions of ion homeostasis, calcium signaling, and neurotransmitter...

  16. Science and Society in the Eugenic Thought of H. J. Muller

    Science.gov (United States)

    Allen, Garland E.

    1970-01-01

    Traces the growth of theories of eugenics during the twentieth century, focussing on the work of H. J. Muller. Concludes that "Muller's lasting contribution was to write the hereditarian attitudes associated with traditional eugenics and the environmentalist's viewpoint associated with modern sociology to obtain a humane and reasoned approach to…

  17. Resistance in School and Society: Public and Pedagogical Debates about Eugenics, 1900-1947.

    Science.gov (United States)

    Selden, Steven

    1988-01-01

    This article reviews positions of scientists, educators and publicists who resisted eugenics and determinism. The nature nurture controversy is discussed, as well as the impact of eugenics on American classrooms. Specific attention is given to four resisters: Dewey, Bagley, Jennings, and Lippmann. (IAH)

  18. A Cabinet of Mathematical Curiosities at Teachers College: David Eugene Smith's Collection

    Science.gov (United States)

    Murray, Diane R.

    2012-01-01

    This dissertation is a history of David Eugene Smith's collection of historical books, manuscripts, portraits, and instruments related to mathematics. The study analyzes surviving documents, images, objects, college announcements and catalogs, and secondary sources related to Smith's collection. David Eugene Smith (1860-1944) travelled…

  19. Eugenics and education: Implications of ideology, memory, and history for education in the United States

    Science.gov (United States)

    Winfield, Ann Gibson

    Eugenics has been variously described "as an ideal, as a doctrine, as a science (applied human genetics), as a set of practices (ranging from birth control to euthanasia), and as a social movement" (Paul 1998 p. 95). "Race Suicide" (Roosevelt 1905) and the ensuing national phobia regarding the "children of worm eaten stock" (Bobbitt 1909) prefaced an era of eugenic ideology whose influence on education has been largely ignored until recently. Using the concept of collective memory, I examine the eugenics movement, its progressive context, and its influence on the aims, policy and practice of education. Specifically, this study examines the ideology of eugenics as a specific category and set of distinctions, and the role of collective memory in providing the mechanism whereby eugenic ideology may shape and fashion interpretation and action in current educational practice. The formation of education as a distinct academic discipline, the eugenics movement, and the Progressive era coalesced during the first decades of the twentieth century to form what has turned out to be a lasting alliance. This alliance has had a profound impact on public perception of the role of schools, how students are classified and sorted, degrees and definitions of intelligence, attitudes and beliefs surrounding multiculturalism and a host of heretofore unexplored ramifications. My research is primarily historical and theoretical and uses those material and media cultural artifacts generated by the eugenics movement to explore the relationship between eugenic ideology and the institution of education.

  20. Contribution of Neuroepigenetics to Huntington's Disease.

    Science.gov (United States)

    Francelle, Laetitia; Lotz, Caroline; Outeiro, Tiago; Brouillet, Emmanuel; Merienne, Karine

    2017-01-01

    Unbalanced epigenetic regulation is thought to contribute to the progression of several neurodegenerative diseases, including Huntington's disease (HD), a genetic disorder considered as a paradigm of epigenetic dysregulation. In this review, we attempt to address open questions regarding the role of epigenetic changes in HD, in the light of recent advances in neuroepigenetics. We particularly discuss studies using genome-wide scale approaches that provide insights into the relationship between epigenetic regulations, gene expression and neuronal activity in normal and diseased neurons, including HD neurons. We propose that cell-type specific techniques and 3D-based methods will advance knowledge of epigenome in the context of brain region vulnerability in neurodegenerative diseases. A better understanding of the mechanisms underlying epigenetic changes and of their consequences in neurodegenerative diseases is required to design therapeutic strategies more effective than current strategies based on histone deacetylase (HDAC) inhibitors. Researches in HD may play a driving role in this process.

  1. Destination and source memory in Huntington's disease.

    Science.gov (United States)

    El Haj, Mohamad; Caillaud, Marie; Verny, Christophe; Fasotti, Luciano; Allain, Philippe

    2016-03-01

    Destination memory refers to the recall of the destination of previously relayed information, and source memory refers to the recollection of the origin of received information. We compared both memory systems in Huntington's disease (HD) participants. For this, HD participants and healthy adults had to put 12 items in a black or a white box (destination task), and to extract another 12 items from a blue or a red box (source task). Afterwards, they had to decide in which box each item had previously been deposited (destination memory), and from which box each item had previously been extracted (source memory). HD participants showed poorer source as well as destination recall performance than healthy adults in the proposed tasks. Correlation analysis showed that destination recall was significantly correlated with episodic recall in HD participants. Destination memory impairment in HD participants seems to be considerably influenced by their episodic memory performance. © 2014 The British Psychological Society.

  2. Magnetic biomineralisation in Huntington's disease transgenic mice

    International Nuclear Information System (INIS)

    Beyhum, W; Hautot, D; Dobson, J; Pankhurst, Q A

    2005-01-01

    The concentration levels of biogenic magnetite nanoparticles in transgenic R6/2 Huntington's disease (HD) mice have been investigated, using seven control and seven HD mice each from an 8 week-old litter and from a 12 week-old litter. Hysteresis and isothermal remnant magnetisation data were collected on a SQUID magnetometer, and analysed using a model comprising dia/paramagnetic, ferrimagnetic and superparamagnetic contributions, to extract the magnetite and ferritin concentrations present. It was found that magnetite was present in both superparamagnetic and blocked states. A larger spread and higher concentration of magnetite levels was found in the diseased mice for both the 8 week-old and 12 week-old batches, compared to the controls

  3. Zur Rolle von Plansprachen im terminologiewissenschaftlichen Werk von Eugen Wuster (The Role of Planned Languages in Eugen Wuster's Work on Terminology Science).

    Science.gov (United States)

    Blanke, Detlev

    1998-01-01

    Discusses the relationship between planned languages and specialized technical languages, with particular reference to Esperanto, and analyzes its significance for several aspects of Eugen Wuster's (the founder of terminology science) work. (Author/VWL)

  4. The Nazi Physicians as Leaders in Eugenics and "Euthanasia": Lessons for Today.

    Science.gov (United States)

    Grodin, Michael A; Miller, Erin L; Kelly, Johnathan I

    2018-01-01

    This article, in commemoration of the 70th anniversary of the Doctors' Trial at Nuremberg, reflects on the Nazi eugenics and "euthanasia" programs and their relevance for today. The Nazi doctors used eugenic ideals to justify sterilizations, child and adult "euthanasia," and, ultimately, genocide. Contemporary euthanasia has experienced a progression from voluntary to nonvoluntary and from passive to active killing. Modern eugenics has included both positive and negative selective activities. The 70th anniversary of the Doctors' Trial at Nuremberg provides an important opportunity to reflect on the implications of the Nazi eugenics and "euthanasia" programs for contemporary health law, bioethics, and human rights. In this article, we will examine the role that health practitioners played in the promotion and implementation of State-sponsored eugenics and "euthanasia" in Nazi Germany, followed by an exploration of contemporary parallels and debates in modern bioethics. 1 .

  5. The Emergence of Genetic Counseling in Sweden: Examples from Eugenics and Medical Genetics.

    Science.gov (United States)

    Björkman, Maria

    2015-09-01

    This paper examines the intertwined relations between eugenics and medical genetics from a Swedish perspective in the 1940s and 1950s. The Swedish case shows that a rudimentary form of genetic counseling emerged within eugenic practices in the applications of the Swedish Sterilization Act of 1941, here analyzed from the phenomenon of "heredophobia" (ärftlighetsskräck). At the same time genetic counseling also existed outside eugenic practices, within the discipline of medical genetics. The paper argues that a demand for genetic counseling increased in the 1940s and 1950s in response to a sense of reproductive responsibility engendered by earlier eugenic discourse. The paper also questions the claim made by theoreticians of biopolitics that biological citizens have emerged only during the last decades, especially in neoliberal societies. From the Swedish case it is possible to argue that this had already happened earlier in relation to the proliferation of various aspects of eugenics to the public.

  6. Progressive Impairment of Lactate-based Gluconeogenesis in the Huntington?s Disease Mouse Model R6/2

    OpenAIRE

    Nielsen, Signe Marie Borch; Hasholt, Lis; N?rrem?lle, Anne; Josefsen, Knud

    2015-01-01

    Huntington?s disease (HD) is a neurodegenerative illness, where selective neuronal loss in the brain caused by expression of mutant huntingtin protein leads to motor dysfunction and cognitive decline in addition to peripheral metabolic changes. In this study we confirm our previous observation of impairment of lactate-based hepatic gluconeogenesis in the transgenic HD mouse model R6/2 and determine that the defect manifests very early and progresses in severity with disease development, indic...

  7. Willis Eugene Lamb (1913 - 2008) - Passion for precision

    International Nuclear Information System (INIS)

    Pain, J.C.

    2013-01-01

    In 1947, Willis Eugene Lamb with Robert Retherford measured a gap between the 2 fine structure levels 2s(1/2) and 2p(1/2) of the hydrogen atom while the Dirac equations gave them the same energy. This discovery called 'Lamb shift' was a driving factor for the development of quantum electrodynamics after the second world war. Lamb has also contributed to various fields of quantum physics, he studied the ejection of electrons by metastable atoms and also the Bose-Einstein condensation. In 1939, he predicted nuclear transitions that led to the discovery of the Moessbauer effect 22 years later

  8. Ectrodactyly and Germany's eugenics law of 14 July 1933

    DEFF Research Database (Denmark)

    Busch, Roland; Kjær, Klaus Wilbrandt

    2002-01-01

    for an adopted daughter, the propositus was childless. His two affected brothers each had an affected child, and the father- to son transmission confirmed the hypothesis of autosomal dominant inheritance. The issue of nonpenetrance versus germinal mosaicism in ectrodactyly was debated by Auerbach [1956:Ann Hum......The family reported herein serves as a genetically and historically important vignette on the issues of nonpenetrance (versus germinal mosaicism) in nonsyndromic autosomal dominant ectrodactyly and the Eugenics Law of Germany of 14 July 1933, which was used to coerce the sterilization...

  9. [Eugenics and Falange through the journal Ser (1942-1957)].

    Science.gov (United States)

    Rendon, Sara Navarro

    2016-01-01

    Biopolitics has played an important role in fascist totalitarianism and the-Francoist regime was no exception. From the and with ultimate goal or regulating the population, measures were implemented to increase, care for and indoctrinate the population. This present study analyses the selection and promotion measures of some populations and the marginalisation of others proposed the Spanish Falangist Movement's official publication in the field of medicine, the journal Ser, Revista Medico-Social by the National Delegation of Health of the Traditionalist Spanish Phalanx of the Committees of the National Syndicalist Offensivie (F.E.T y de las J. O. N. S. 1942-1957). In this respect, the analysis of eugenic ideas and practice defended therein become especially interesting, claiming that, through indoctrination and health development, the race would be improved both physically and mentally. From the systematic analysis of the journals's contenets it has been demonstrated that this was one of the instruments used by the dictatorial regime to reconfigure eugenics in accordance with Catholic morals and national syndicalist politics.

  10. Beyond eugenics: the forgotten scandal of hybridizing humans and apes.

    Science.gov (United States)

    Etkind, Alexander

    2008-06-01

    This paper examines the available evidence on one of the most radical ideas in the history of eugenics and utopianism. In the mid-1920s, the zoology professor Ilia Ivanov submitted to the Soviet government a project for hybridizing humans and apes by means of artificial insemination. He received substantial financing and organized expeditions to Africa to catch apes for his experiments. His project caused an international sensation. The American Association for the Advancement of Atheism announced its fund-raising campaign to support Ivanov's project but gave it a scandalously racist interpretation. Ivanov's own motivation remained unclear, as did the motivation of those in the Bolshevik government who supported Ivanov until his arrest in 1930. This paper discusses three hypothetical reasons for Ivanov's adventure: first, hybridization between humans and apes, should it be successful, would support the atheist propaganda of the Bolsheviks; second, regardless of the success of hybridization, Ivanov would catch and bring to Russia apes, which were necessary for the rejuvenation programs that were fashionable among the Bolshevik elite; and third, hybridization, should it be successful, would pave the way to the New Socialist Man whose 'construction by scientific means' was the official purpose of the Bolsheviks. Ivanov's ideas were arguably important for the American proponent of reform eugenics, Herman Muller, and for the Soviet anthropologist Boris Porshnev.

  11. Sterilization and birth control in the shadow of eugenics: married, middle-class women in Alberta, 1930-1960s.

    Science.gov (United States)

    Dyck, Erika

    2014-01-01

    The history of eugenic sterilization connotes draconian images of coerced and involuntary procedures robbing men and women of their reproductive health. While eugenics programs often fit this characterization, there is another, smaller, and less obvious legacy of eugenics that arguably contributed to a more empowering image of reproductive health. Sexual sterilization surgeries as a form of contraception began to gather momentum alongside eugenics programs in the middle of the 20th century and experiences among prairie women serve as an illustrative example. Alberta maintained its eugenics program from 1929 to 1972 and engaged in thousands of eugenic sterilizations, but by the 1940s middle-class married women pressured their Albertan physicians to provide them with sterilization surgeries to control fertility, as a matter of choice. The multiple meanings and motivations behind this surgery introduced a moral quandary for physicians, which encourages medical historians to revisit the history of eugenics and its relationship to the contemporaneous birth control movement.

  12. The Strength of a Loosely Defined Movement: Eugenics and Medicine in Imperial Russia

    Science.gov (United States)

    Krementsov, Nikolai

    2015-01-01

    This essay examines the ‘infiltration’ of eugenics into Russian medical discourse during the formation of the eugenics movement in western Europe and North America in 1900–17. It describes the efforts of two Russian physicians, the bacteriologist and hygienist Nikolai Gamaleia (1859–1949) and the psychiatrist Tikhon Iudin (1879–1949), to introduce eugenics to the Russian medical community, analysing in detail what attracted these representatives of two different medical specialties to eugenic ideas, ideals, and policies advocated by their western colleagues. On the basis of a close examination of the similarities and differences in Gamaleia’s and Iudin’s attitudes to eugenics, the essay argues that lack of cohesiveness gave the early eugenics movement a unique strength. The loose mix of widely varying ideas, ideals, methods, policies, activities and proposals covered by the umbrella of eugenics offered to a variety of educated professionals in Russia and elsewhere the possibility of choosing, adopting and adapting particular elements to their own national, professional, institutional and disciplinary contexts, interests and agendas. PMID:25498435

  13. The strength of a loosely defined movement: eugenics and medicine in imperial Russia.

    Science.gov (United States)

    Krementsov, Nikolai

    2015-01-01

    This essay examines the 'infiltration' of eugenics into Russian medical discourse during the formation of the eugenics movement in western Europe and North America in 1900-17. It describes the efforts of two Russian physicians, the bacteriologist and hygienist Nikolai Gamaleia (1859-1949) and the psychiatrist Tikhon Iudin (1879-1949), to introduce eugenics to the Russian medical community, analysing in detail what attracted these representatives of two different medical specialties to eugenic ideas, ideals, and policies advocated by their western colleagues. On the basis of a close examination of the similarities and differences in Gamaleia's and Iudin's attitudes to eugenics, the essay argues that lack of cohesiveness gave the early eugenics movement a unique strength. The loose mix of widely varying ideas, ideals, methods, policies, activities and proposals covered by the umbrella of eugenics offered to a variety of educated professionals in Russia and elsewhere the possibility of choosing, adopting and adapting particular elements to their own national, professional, institutional and disciplinary contexts, interests and agendas.

  14. Confronting the stigma of eugenics: genetics, demography and the problems of population.

    Science.gov (United States)

    Ramsden, Edmund

    2009-12-01

    Building upon the work of Thomas Gieryn and Erving Goffman, this paper will explore how the concepts of stigma and boundary work can be usefully applied to history of population science. Having been closely aligned to eugenics in the early 20th century, from the 1930s both demographers and geneticists began to establish a boundary between their own disciplines and eugenic ideology. The eugenics movement responded to this process of stigmatization. Through strategies defined by Goffman as 'disclosure' and 'concealment', stigma was managed, and a limited space for eugenics was retained in science and policy. Yet by the 1960s, a revitalized eugenics movement was bringing leading social and biological scientists together through the study of the genetic demography of characteristics such as intelligence. The success of this programme of 'stigma transformation' resulted from its ability to allow geneticists and demographers to conceive of eugenic improvement in ways that seemed consistent with the ideals of individuality, diversity and liberty. In doing so, it provided them with an alternative, and a challenge, to more radical and controversial programmes to realize an optimal genotype and population. The processes of stigma attribution and management are, however, ongoing, and since the rise of the nature-nurture controversy in the 1970s, the use of eugenics as a 'stigma symbol' has prevailed.

  15. The Characteristics of Korea’s Eugenic Movement in the Colonial Period Represented in the Bulletin, Woosaeng

    Directory of Open Access Journals (Sweden)

    SHIN Young-Jeon

    2006-12-01

    Full Text Available Woosaeng, meaning "eugenic" in Korean, was a bulletin published by the Korean Eugenics Association in 1934. With detailed review of the contributors to Woosaeng, its publication background and the contents, the characteristics of Korea's eugenic movement in 1930's and its historical implications of public health are studied. Intellectuals, especially some medical doctors educated abroad, played the pivotal role in publishing Woosaeng and leading the eugenic movement in 1930's. Lee Gabsoo, a medical doctor educated in Germany, is identified as the key person in the whole process. Most of contributors including Lee considered medical science, especially genetics, as the foundation of eugenics and had strong confidence in their belief. A variety of eugenic movements and activities, including enactment of the national eugenic law around the world, was introduced to the Korean society through Woosaeng and it reinforced the eugenic activities in Korea. Although colonial Korea at the time was being heavily imposed with Japan's culture, the eugenic activities were also influenced by Germany and the US through the contributors educated oversea. The overall content and tone of Woosaeng, revealed its 'soft' characteristics, yet it also implied its vulnerability to 'hard' eugenics. Korea's eugenic movement around Woosaeng faces turnover right before 'The Go Fast Imperialism' period. The high class intellectuals tamed by Japanese colonial paradigm in eugenics took the lead and ended up having a significant influence upon the activities around Woosaeng. And even after Koreans' liberation from Japan's annexation, they were able to retain their influence in public health area in the Korean society. In summary, Woosaeng guided us to understand the characteristics of Korea's eugenic movement in 1930's and the historical context of public health in Korea. Moreover, Woosaeng provided a large amount of information about the eugenic movements around the world as well

  16. 75 FR 13454 - Special Local Regulation, Fran Schnarr Open Water Championships, Huntington Bay, NY

    Science.gov (United States)

    2010-03-22

    ...-AA08 Special Local Regulation, Fran Schnarr Open Water Championships, Huntington Bay, NY AGENCY: Coast... navigable waters of Huntington Bay, New York due to the annual Fran Schnarr Open Water Championships. The..., ``Special Local Regulation, Fran Schnarr Open Water Championships, Huntington Bay, NY'' (Docket number USCG...

  17. 75 FR 38710 - Special Local Regulation, Fran Schnarr Open Water Championships, Huntington Bay, NY

    Science.gov (United States)

    2010-07-06

    ...-AA08 Special Local Regulation, Fran Schnarr Open Water Championships, Huntington Bay, NY AGENCY: Coast... Regulation on the navigable waters of Huntington Bay, New York due to the annual Fran Schnarr Open Water... ``Special Local Regulation, Fran Schnarr Open Water Championships, Huntington Bay, NY'' in the Federal...

  18. Changes in mental state and behaviour in Huntington's disease.

    Science.gov (United States)

    Eddy, Clare M; Parkinson, Ellice G; Rickards, Hugh E

    2016-11-01

    Changes in mental state and behaviour have been acknowledged in Huntington's disease since the original monograph in 1872 provided evidence of disinhibition and impaired social cognition. Behavioural problems can manifest before obvious motor symptoms and are frequently the most disabling part of the illness. Although pharmacological treatments are used routinely for psychiatric difficulties in Huntington's disease, the scientific evidence base for their use is somewhat sparse. Moreover, effective treatments for apathy and cognitive decline do not currently exist. Understanding the social cognitive impairments associated with Huntington's disease can assist management, but related therapeutic interventions are needed. Future research should aim to design rating scales for behaviour and mental state in Huntington's disease that can detect change in clinical trials. Generally, communication and understanding of behaviour and mental state in Huntington's would be enhanced by a clear conceptual framework that unifies ideas around movement, cognition, emotion, behaviour, and mental state, reflecting both the experience of the patient and their underlying neuropathology. Copyright © 2016 Elsevier Ltd. All rights reserved.

  19. [Constant or break? On the relations between human genetics and eugenics in the Twentieth Century].

    Science.gov (United States)

    Germann, Pascal

    2015-07-01

    The history of human genetics has been a neglected topic in history of science and medicine for a long time. Only recently, have medical historians begun to pay more attention to the history of human heredity. An important research question deals with the interconnections between human genetics and eugenics. This paper addresses this question: By focusing on a Swiss case study, the investigation of the heredity of goiter, I will argue that there existed close but also ambiguous relations between heredity research and eugenics in the twentieth century. Studies on human heredity often produced evidence that challenged eugenic aims and ideas. Concurrently, however, these studies fostered visions of genetic improvement of human populations.

  20. Haplotype-based stratification of Huntington's disease.

    Science.gov (United States)

    Chao, Michael J; Gillis, Tammy; Atwal, Ranjit S; Mysore, Jayalakshmi Srinidhi; Arjomand, Jamshid; Harold, Denise; Holmans, Peter; Jones, Lesley; Orth, Michael; Myers, Richard H; Kwak, Seung; Wheeler, Vanessa C; MacDonald, Marcy E; Gusella, James F; Lee, Jong-Min

    2017-11-01

    Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by expansion of a CAG trinucleotide repeat in HTT, resulting in an extended polyglutamine tract in huntingtin. We and others have previously determined that the HD-causing expansion occurs on multiple different haplotype backbones, reflecting more than one ancestral origin of the same type of mutation. In view of the therapeutic potential of mutant allele-specific gene silencing, we have compared and integrated two major systems of HTT haplotype definition, combining data from 74 sequence variants to identify the most frequent disease-associated and control chromosome backbones and revealing that there is potential for additional resolution of HD haplotypes. We have used the large collection of 4078 heterozygous HD subjects analyzed in our recent genome-wide association study of HD age at onset to estimate the frequency of these haplotypes in European subjects, finding that common genetic variation at HTT can distinguish the normal and CAG-expanded chromosomes for more than 95% of European HD individuals. As a resource for the HD research community, we have also determined the haplotypes present in a series of publicly available HD subject-derived fibroblasts, induced pluripotent cells, and embryonic stem cells in order to facilitate efforts to develop inclusive methods of allele-specific HTT silencing applicable to most HD patients. Our data providing genetic guidance for therapeutic gene-based targeting will significantly contribute to the developments of rational treatments and implementation of precision medicine in HD.

  1. Eugenics--a side effect of progressivism? analysis of the role of scientific and medical elites in the rise and fall of eugenics in pre-war Poland.

    Science.gov (United States)

    Blach, Olga

    2010-06-01

    The eminent geneticist, Benno Muller-Hill, described eugenics as"explosive mixture between something we might call hard science, that is, human genetics, and the sphere of political action. On the one hand, geneticists needed politicians to implement their ideas. On the other hand, Hitler and the Nazis needed scientists who could say that anti-Semitism has scientific theoretical foundations." For some Polish eugenicists, the Third Reich was not the home of the Nuremberg Laws, but a country that "boldly embarked on racial hygiene." This enthusiastic attitude of Polish intellectual circles towards Nazi eugenic laws was characteristic of the status of pre-war science in Poland, which in many areas, such as anthropology and psychiatry, remained strongly influenced by the paradigm of German science. While the professional and scientific context of the day promoted eugenic and racist ideas within the framework of the academic milieu and the curriculum of the medical and scientific community, eugenicists in Poland tended to refrain from anti-Semitic and racist phraseology. Indeed, the Polish eugenic movement was class- rather than race-orientated. The hybrid language of eugenics, combining social sensitivity with repulsion and contempt for the sick and the weak, illustrated the ambiguous stance of the Polish eugenicists on politics and science in Nazi Germany, for the Third Reich provided the German eugenicists with what had always been an unfulfilled dream to the Polish eugenicists--political power and the ability to implement their ideas.

  2. Eugenics, sexual pedagogy and social change: constructing the responsible subject of governmentality in the Spanish Second Republic.

    Science.gov (United States)

    Jiménez-Alonso, Belén

    2008-06-01

    This study focuses on eugenics in Spain, and more specifically on the 'official' eugenics whose platform was the Primeras Jornadas Eugénicas Españolas (First Spanish Eugenic Days, FSED). The aim of this paper is to relate eugenics to 'governmentality' rather than to State politics alone and to 'Latin eugenics' rather than to 'mainline eugenics'. On the one hand, the FSED were largely centred on the development of a new sexual code which would set Catholic sexual morality aside. For this reason, sexual pedagogy was one of the most relevant topics during the FSED, personal responsibility becoming the first step to social change. The concern about making people play an active role in their own self-regulation is typical of governmentality. The latter refers to societies where power is decentered and where the objective is to structure the field of action of others (the conduct of conduct). On the other hand, the FSED emphasised preventive eugenics such as welfare programmes and health campaigns rather than negative eugenics such as the sterilisation of the unfit. The situation in Spain was mirrored in countries such as Brazil, Argentina and Mexico, which allows us to think about them in terms of 'Latin eugenics' rather than 'mainline eugenics' from countries such as Great Britain, Germany and the USA.

  3. Eugenics, sterilization, and historical memory in the United States

    Directory of Open Access Journals (Sweden)

    Alexandra Minna Stern

    Full Text Available Abstract From the 1920s to the 1950s, California sterilized approximately 20,000 people in state homes and hospitals based on a eugenic law that authorized medical superintendents to perform reproductive surgeries on patients deemed unfit and “suffering from a mental affliction likely to be inherited.” Working with a unique resource – a dataset created from 19,000 sterilization recommendations – my team and I have reconstructed patterns and experiences of institutionalization of sterilizations. This article presents several of our important initial findings related to ethnic and gender bias in sterilization policies, and reflects on the relevance of the history for contemporary issues in genomics and social justice.

  4. Quality babies. China's "eugenics" guidelines are as old as civilization.

    Science.gov (United States)

    1994-01-12

    Inaccurate translations inadvertently misrepresent policy directives from China. Professional moralizers respond to the new laws with indignation. For example, an editorial in a US newspaper said that Americans objected to China's eugenic guidelines to prevent inferior quality infants. Yet, in the US and other developed countries, parents, and adult siblings do no allow their mentally retarded family members to procreate. Quiet abortions occur. In the US, deformed newborns are classified as stillborns. In the 1950s in the US, state governments allowed sterilization of handicapped people and even alcoholics. The moralizers expect China to accomplish in 10 years what developed countries did in 100 years. China has a one-child policy to which many so-called human rights advocates object. Yet, China cannot sustain a population of 2 billion with the living standards to which it aspires. Granted, however, that China does create its own image problems. It needs to invest more in public relations, maybe employ image-building professionals from the US and Europe to circumvent the unintentional use of emotionally charged, historically loaded, or inappropriate terms and, therefore, to prevent the international media from overreacting. Nevertheless, moral dilemmas do exist with eugenics policies. Genetic markers can detect chromosomal abnormalities leading to mental retardation as well as later-life abnormalities; e.g., colon cancer. Markers may perhaps someday detect a propensity to criminal behavior, homosexuality, or alcoholism. Governments could forbid all genetic testing, resulting in families accepting whatever nature sends, but with the advancement of science, this is unrealistic. If it is banned in one country, people will go to a country where it is available. Since parents in both the US and China want healthy, good-looking and intelligent children US editorialists should not moralize about China while US couples have access to the most up-to-date genetic technology.

  5. When the time seems ripe: eugenics, the annals, and the subtle persistence of typological thinking.

    Science.gov (United States)

    Weiss, Kenneth M; Lambert, Brian W

    2011-05-01

    This journal began in 1925 as the Annals of Eugenics. Much has changed since then. The original Editors' primary eugenic objective was not achieved, and eugenics justifiably became notorious for racism and gross abuse of human rights. But one founding aim was to publish advances in statistical genetics, and that objective prospered in the journal's pages from its beginning to the present day. The online availability of the original issues will be useful to those interested in the history of both eugenics and human genetics and will provide a reminder of how the careless use of genetical concepts can go astray. © 2010 The Authors Annals of Human Genetics © 2010 Blackwell Publishing Ltd/University College London.

  6. From nation to family: two careers in the recasting of eugenics.

    Science.gov (United States)

    Slavishak, Edward

    2009-01-01

    By examining the professional lives of two popularizers of eugenic thought from the 1910s to the 1940s, this study illustrates the broader change from "mainline" to "reform" eugenics in the United States. Roswell Hill Johnson's university teaching, laboratory research, and later marriage counseling work contrasted greatly with George Seibel's forays into eugenic theater moral reform, and mass physical fitness movements. Yet both men shifted from a strict position of mandating other people's behavior in the name of national health and racial integrity to a more therapeutic stance that cast individual decisions in the context of managed family life. This study shows that for some, the transformation of eugenics in the 1930s meant adapting the traditional focus on superiority, inferiority, and reproduction by design to the language of a commercial marketplace.

  7. Eesti aja arhitektuur : Eugen Habermann 125. Herbert Johanson 125 / Ike Volkov

    Index Scriptorium Estoniae

    Volkov, Ike, 1951-

    2010-01-01

    Näitus Eesti Arhitektuurimuuseumis 04. 12. 2009-07. 03. 2010. Eugen Habermannist ja Herbert Johansonist, nende tegevusest ja loomingust. Selle aja ja praegustest probleemidest ning lahendusvõimalustest

  8. Embodied emotion impairment in Huntington's Disease.

    Science.gov (United States)

    Trinkler, Iris; Devignevielle, Sévérine; Achaibou, Amal; Ligneul, Romain V; Brugières, Pierre; Cleret de Langavant, Laurent; De Gelder, Beatrice; Scahill, Rachael; Schwartz, Sophie; Bachoud-Lévi, Anne-Catherine

    2017-07-01

    Theories of embodied cognition suggest that perceiving an emotion involves somatovisceral and motoric re-experiencing. Here we suggest taking such an embodied stance when looking at emotion processing deficits in patients with Huntington's Disease (HD), a neurodegenerative motor disorder. The literature on these patients' emotion recognition deficit has recently been enriched by some reports of impaired emotion expression. The goal of the study was to find out if expression deficits might be linked to a more motoric level of impairment. We used electromyography (EMG) to compare voluntary emotion expression from words to emotion imitation from static face images, and spontaneous emotion mimicry in 28 HD patients and 24 matched controls. For the latter two imitation conditions, an underlying emotion understanding is not imperative (even though performance might be helped by it). EMG measures were compared to emotion recognition and to the capacity to identify and describe emotions using alexithymia questionnaires. Alexithymia questionnaires tap into the more somato-visceral or interoceptive aspects of emotion perception. Furthermore, we correlated patients' expression and recognition scores to cerebral grey matter volume using voxel-based morphometry (VBM). EMG results replicated impaired voluntary emotion expression in HD. Critically, voluntary imitation and spontaneous mimicry were equally impaired and correlated with impaired recognition. By contrast, alexithymia scores were normal, suggesting that emotion representations on the level of internal experience might be spared. Recognition correlated with brain volume in the caudate as well as in areas previously associated with shared action representations, namely somatosensory, posterior parietal, posterior superior temporal sulcus (pSTS) and subcentral sulcus. Together, these findings indicate that in these patients emotion deficits might be tied to the "motoric level" of emotion expression. Such a double

  9. When Harvard said no to eugenics: the J. Ewing Mears Bequest, 1927.

    Science.gov (United States)

    Lombardo, Paul A

    2014-01-01

    James Ewing Mears (1838-1919) was a founding member of the Philadelphia Academy of Surgery. His 1910 book, The Problem of Race Betterment, laid the groundwork for later authors to explore the uses of surgical sterilization as a eugenic measure. Mears left $60,000 in his will to Harvard University to support the teaching of eugenics. Although numerous eugenic activists were on the Harvard faculty, and two of its Presidents were also associated with the eugenics movement, Harvard refused the Mears gift. The bequest was eventually awarded to Jefferson Medical College in Philadelphia. This article explains why Harvard turned its back on a donation that would have supported instruction in a popular subject. Harvard's decision illustrates the range of opinion that existed on the efficacy of eugenic sterilization at the time. The Mears case also highlights a powerful irony: the same week Harvard turned down the Mears legacy, the U.S. Supreme Court endorsed eugenic sterilization in the landmark case of Buck v. Bell. Justice Oliver Wendell Holmes, Jr., graduate of Harvard and former member of its law faculty wrote the opinion in that case, including the famous conclusion: "Three generations of imbeciles are enough."

  10. The master potter and the rejected pots: eugenic legislation in Victoria, 1918-1939.

    Science.gov (United States)

    Jones, R L

    1999-01-01

    In the period since Carol Bacchi introduced eugenics into Australian historiography in 1980, much has been written that has increased our understanding of the role eugenics played in the development of Australian society in the first half of this century. It is now generally recognised that eugenics developed after the first world war from a relatively simplistic scientific justification of racist and class-biased social Darwinism into a movement concerned with using environmental reforms to help a wide range of Australians reach their full potential. In the interwar years the reform eugenicists (as they have been named) were active in a wide range of environmental movements including health reforms, slum clearance and educational improvements. The corollary of reform eugenics was based on the belief that heredity was an impassable obstacle for some: mental deficients were not considered to be racially 'fit' or 'efficient' enough to benefit from the reforms. Whilst this side of reform eugenics is well known in other countries (sterilisation programmes in Germany, the United States and Scandinavia being examples), it is yet to receive much attention so far in the discussion about Australia in the interwar years. This article argues that the attempt of a group of influential reform eugenicists in Victoria in the interwar years to institute legislation aimed at denying a significant proportion of the population the most basic rights of citizenship (including the right to reproduce) redresses the imbalance in our understanding of reform eugenics in the interwar years.

  11. An improved assay for the determination of Huntington`s disease allele size

    Energy Technology Data Exchange (ETDEWEB)

    Reeves, C.; Klinger, K.; Miller, G. [Intergrated Genetics, Framingham, MA (United States)

    1994-09-01

    The hallmark of Huntington`s disease (HD) is the expansion of a polymorphic (CAG)n repeat. Several methods have been published describing PCR amplification of this region. Most of these assays require a complex PCR reaction mixture to amplify this GC-rich region. A consistent problem with trinucleotide repeat PCR amplification is the presence of a number of {open_quotes}stutter bands{close_quotes} which may be caused by primer or amplicon slippage during amplification or insufficient polymerase processivity. Most assays for HD arbitrarily select a particular band for diagnostic purposes. Without a clear choice for band selection such an arbitrary selection may result in inconsistent intra- or inter-laboratory findings. We present an improved protocol for the amplification of the HD trinucleotide repeat region. This method simplifies the PCR reaction buffer and results in a set of easily identifiable bands from which to determine allele size. HD alleles were identified by selecting bands of clearly greater signal intensity. Stutter banding was much reduced thus permitting easy identification of the most relevant PCR product. A second set of primers internal to the CCG polymorphism was used in selected samples to confirm allele size. The mechanism of action of N,N,N trimethylglycine in the PCR reaction is not clear. It may be possible that the minimal isostabilizing effect of N,N,N trimethylglycine at 2.5 M is significant enough to affect primer specificity. The use of N,N,N trimethylglycine in the PCR reaction facilitated identification of HD alleles and may be appropriate for use in other assays of this type.

  12. Eugenics discourse and racial improvement in Republican China (1911-1949).

    Science.gov (United States)

    Sihn, Kyu-hwan

    2010-12-31

    This paper aimed to examine the advent of eugenics and its characteristics in republican China. Although eugenics was introduced into China as a discourse to preserve and improve race by the 1898 reformers such as Yan Fu (1854-1921) and Yi Nai (1875-?) in the late imperial period, it was not until the republican period that eugenics discourse started to combine with the discourse and movement related to social reform. The May 4th intellectuals put forward criticisms of Confucian patriarchy, propagating science and democracy. They pointed out that the large family system was a source of every social evil, and argued the need for a small family system based on monogamy. The aim of the small family system was to improve both the race and the environment. Such thinkers argued that freedom of love and the liberation of individuality were necessary for this end. Zhou Jianren (1888-1984), Lu Xun's youngest brother and representative eugenicist in the May 4th period, combined eugenics with freedom of love and the liberation of individuality. Pan Guangdan (1899-1967) and Zhou Jianren debated the eugenics controversy in the 1920s. They raised the freedom of love and the liberation of individuality as central issues related to the eugenics controversy. The eugenics debate was developed into the controversy between biological determinism and environmentalism in the late 1920s. However, these issues did not continue to be brought up in the 1930s. The main issues concerning the eugenics controversy in the 1930s were cultural identity and the population problem. Particularly in the 1930s, the scope of birth control as the solution to the population problem was extended from the individual person and family to nation and race. For eugenicists like Pan Guangdan, birth control violated the aim of eugenics and brought about the degeneration of the race. However, such theorists did not deny the value of birth control itself. The supporters of birth control thought that selecting

  13. Remifentanil in a patient with Huntington's chorea - case report ...

    African Journals Online (AJOL)

    Relatively few published case reports related to the anaesthetic management of Huntington's chorea (HC) exist. At the time of surgery no publications were found related to remifentanil's use in patients with HC. This case report describes the management of a confirmed HC patient requiring urgent decompression of a spinal ...

  14. PSYCHIATRIC ASPECTS OF HUNTINGTON DISEASE – CASE REPORTS

    Directory of Open Access Journals (Sweden)

    Mirela Batta

    2004-04-01

    Full Text Available Background. Huntington disease occurrs rarely, it can be encountered not only by neurologists and psychiatrists but also by other medical practitioners. Its characteristic features are involuntary movements, cognitive disorders and gradual development of dementia. Diagnosis is given on the basis of these clinical features, positive familial anamnesis, with the laboratory exclusion of other neuropsychiatric diseases and with the help of neuroimaging methods (in particular NMR. The disease can be only confirmed by means of genetic analysis.Patients and methods. In this article, four cases of patients with Huntington disease and diverse psychiatric disorders that were hospitalised at the psychiatric department of the Maribor General Hospital between October 2002 and March 2003 are described. All the patients fulfilled the valid criteria for the diagnosis of Huntington disease. However, they differed according to their accompanying psychiatric psychopathology, age and social problems.Conclusions. The purpose of this article is to draw attention to different psychiatric symptoms and clinical manifestations of Huntington disease that are often misleading in the diagnostic process. In addition, exigency of early diagnostics, guidelines for referrals to genetic testing and psychiatric monitoring of these patients are emphasised.

  15. Ethical issues and Huntington's disease | Kromberg | South African ...

    African Journals Online (AJOL)

    The practice of genetic counselling gives rise to many ethical dilemmas, and counsellors need to be familiar with the principles of biomedical ethics. The primary principles include respect for autonomy, beneficence, non-maleficence and justice. A case of identical twins at 50% risk for Huntington's disease, in which only one ...

  16. The emotional experiences of family carers in Huntington disease.

    Science.gov (United States)

    Williams, Janet K; Skirton, Heather; Paulsen, Jane S; Tripp-Reimer, Toni; Jarmon, Lori; McGonigal Kenney, Meghan; Birrer, Emily; Hennig, Bonnie L; Honeyford, Joann

    2009-04-01

    This paper is a report of a study conducted to examine the emotional experience of caregiving by family carers of people with Huntington disease and to describe strategies they used to deal with that experience. Huntington disease, commonly diagnosed in young to middle adulthood, is an inherited single gene disorder involving loss of cognitive, motor and neuropsychiatric function. Many family members become caregivers as well as continuing as parents and wage earners. The emotional aspects of caregiving contribute to mental health risks for family members. Focus groups were conducted with 42 adult carers of people with Huntington disease in four United States and two Canadian Huntington disease centers between 2001 and 2005. Data were analyzed through descriptive coding and thematic analysis. All participants reported multiple aspects of emotional distress. Being a carer was described as experiencing disintegration of one's life. Carers attempted to cope by seeking comfort from selected family members, anticipating the time when the care recipient had died and/or using prescription medications. Spousal carers were distressed by the loss of their relationship with their spouse and dealt with this by no longer regarding the person as an intimate partner. Carers were concerned about the disease risk for children in their families and hoped for a cure. Emotional distress can compromise the well-being of family carers, who attempt to maintain multiple roles. Nurses should monitor carer mental health, identify sources of emotional distress and support effective strategies used by carers to mediate distress.

  17. Semantic, phonologic, and verb fluency in Huntington's disease

    Directory of Open Access Journals (Sweden)

    Mariana Jardim Azambuja

    Full Text Available Abstract Verbal fluency tasks have been identified as important indicators of executive functioning impairment in patients with frontal lobe dysfunction. Although the usual evaluation of this ability considers phonologic and semantic criteria, there is some evidence that fluency of verbs would be more sensitive in disclosing frontostriatal physiopathology since frontal regions primarily mediate retrieval of verbs. Huntington's disease usually affects these circuitries. Objective: To compare three types of verbal fluency task in the assessment of frontal-striatal dysfunction in HD subjects. Methods: We studied 26 Huntington's disease subjects, divided into two subgroups: mild (11 and moderate (15 along with 26 normal volunteers matched for age, gender and schooling, for three types of verbal fluency: phonologic fluency (F-A-S, semantic fluency and fluency of verbs. Results: Huntington's disease subjects showed a significant reduction in the number of words correctly generated in the three tasks when compared to the normal group. Both controls and Huntington's disease subjects showed a similar pattern of decreasing task performance with the greatest number of words being generated by semantic elicitation followed by verbs and lastly phonologic criteria. We did not find greater production of verbs compared with F-A-S and semantic conditions. Moreover, the fluency of verbs distinguished only the moderate group from controls. Conclusion: Our results indicated that phonologic and semantic fluency can be used to evaluate executive functioning, proving more sensitive than verb fluency. However, it is important to point out that the diverse presentations of Huntington's disease means that an extended sample is necessary for more consistent analysis of this issue.

  18. Major Superficial White Matter Abnormalities in Huntington's Disease

    Science.gov (United States)

    Phillips, Owen R.; Joshi, Shantanu H.; Squitieri, Ferdinando; Sanchez-Castaneda, Cristina; Narr, Katherine; Shattuck, David W.; Caltagirone, Carlo; Sabatini, Umberto; Di Paola, Margherita

    2016-01-01

    Background: The late myelinating superficial white matter at the juncture of the cortical gray and white matter comprising the intracortical myelin and short-range association fibers has not received attention in Huntington's disease. It is an area of the brain that is late myelinating and is sensitive to both normal aging and neurodegenerative disease effects. Therefore, it may be sensitive to Huntington's disease processes. Methods: Structural MRI data from 25 Pre-symptomatic subjects, 24 Huntington's disease patients and 49 healthy controls was run through a cortical pattern-matching program. The surface corresponding to the white matter directly below the cortical gray matter was then extracted. Individual subject's Diffusion Tensor Imaging (DTI) data was aligned to their structural MRI data. Diffusivity values along the white matter surface were then sampled at each vertex point. DTI measures with high spatial resolution across the superficial white matter surface were then analyzed with the General Linear Model to test for the effects of disease. Results: There was an overall increase in the axial and radial diffusivity across much of the superficial white matter (p < 0.001) in Pre-symptomatic subjects compared to controls. In Huntington's disease patients increased diffusivity covered essentially the whole brain (p < 0.001). Changes are correlated with genotype (CAG repeat number) and disease burden (p < 0.001). Conclusions: This study showed broad abnormalities in superficial white matter even before symptoms are present in Huntington's disease. Since, the superficial white matter has a unique microstructure and function these abnormalities suggest it plays an important role in the disease. PMID:27242403

  19. Factor analysis of the hospital anxiety and depression scale among a Huntington's disease population

    DEFF Research Database (Denmark)

    Dale, Maria; Maltby, John; Martucci, Rossana

    2015-01-01

    INTRODUCTION: Depression and anxiety are common in Huntington's disease, a genetic neurodegenerative disorder. There is a need for measurement tools of mood to be validated within a Huntington's disease population. The current study aimed to analyze the factor structure of the Hospital Anxiety...... and Depression Scale in Huntington's disease. METHODS: Data from the European Huntington's Disease Network study REGISTRY 3 were used to undertake a factor analysis of the scale among a sample of 492 Huntington's disease mutation carriers. The sample was randomly divided into two equal subsamples...... support for an eight-item version of the scale to be used as a measure of general distress within Huntington's disease populations. © 2015 International Parkinson and Movement Disorder Society....

  20. Disease stage, but not sex, predicts depression and psychological distress in Huntington's disease

    DEFF Research Database (Denmark)

    Dale, Maria; Maltby, John; Shimozaki, Steve

    2016-01-01

    OBJECTIVE: Depression and anxiety significantly affect morbidity in Huntington's disease. Mice. models of Huntington's disease have identified sex differences in mood-like behaviours that vary across disease lifespan, but this interaction has not previously been explored in humans with Huntington......'s disease. However, among certain medical populations, evidence of sex differences in mood across various disease stages has been found, reflecting trends among the general population that women tend to experience anxiety and depression 1.5 to 2 times more than men. The current study examined whether...... disease stage and sex, either separately or as an interaction term, predicted anxiety and depression in Huntington's disease. METHODS: A cross-sectional study of REGISTRY data involving 453 Huntington's disease participants from 12 European countries was undertaken using the Hospital Anxiety...

  1. Eugene O’Neill and the Celebration of The Other

    Directory of Open Access Journals (Sweden)

    Sayyed Rahim Moosavinia

    2013-03-01

    Full Text Available The present paper examines Eugene O’Neill’s three selected plays, Anna Christie, The Iceman Cometh and The Hairy Ape, in the light of cultural studies by focusing on finding the notion of the "other", here women, blacks and the working class. The chosen groups here are among the ones that have been "otherized" by the white, male, bourgeois society. In this study, through the elements of cultural studies, it is shown that the mentioned groups are treated as Others because of their gender, class or race which are considered as inferior ones by the Power. We are going to find out that thinking in terms of binary oppositions is not an acceptable point of view in cultural studies. Therefore, the boundary between the superiority of the Power and inferiority of the Other is broken in this approach. O’Neill’s view point in the selected plays is in line with the core ideas in cultural studies. His wide point of view toward the events of his country and his pluralistic and skeptical outlook does not let any simple categorization or generalization takes place in his works. He criticizes the dominant discourses of the society and makes room for other voices to be heard.

  2. Eugene F. Fama: Nobel prize for 2013: Capital market efficiency

    Directory of Open Access Journals (Sweden)

    Pantelić Svetlana

    2015-01-01

    Full Text Available In 2013 the Nobel Prize in Economic Sciences was awarded to the American economists, Eugene Fama, Lars Peter Hansen and Robert Shiller. The monetarists, Fama and Hansen, from the University of Chicago, and the Neo- Keynesian, Shiller, from the Yale University, according to the Swedish Royal Academy, won this prestigious prize for their research providing mathematical and economic models to determine (irregularities in the stock value trends at the stock exchanges. With his colleagues, in the 1960s Fama established that, in the short term, it is extremely difficult to forecast stock prices, given that new information gets embedded in the prices rather quickly. Shiller, however, determined that, although it is almost impossible to predict the stock prices for a period of few days, this is not true for a period of several years. He discovered that the stock prices fluctuate much more substantially than corporation dividents, and that the relationship between prices and dividends tends to decline when high, and to grow when low. This pattern does not apply only to stocks, but also to bonds and other forms of capital.

  3. Karl Pearson and eugenics: personal opinions and scientific rigor.

    Science.gov (United States)

    Delzell, Darcie A P; Poliak, Cathy D

    2013-09-01

    The influence of personal opinions and biases on scientific conclusions is a threat to the advancement of knowledge. Expertise and experience does not render one immune to this temptation. In this work, one of the founding fathers of statistics, Karl Pearson, is used as an illustration of how even the most talented among us can produce misleading results when inferences are made without caution or reference to potential bias and other analysis limitations. A study performed by Pearson on British Jewish schoolchildren is examined in light of ethical and professional statistical practice. The methodology used and inferences made by Pearson and his coauthor are sometimes questionable and offer insight into how Pearson's support of eugenics and his own British nationalism could have potentially influenced his often careless and far-fetched inferences. A short background into Pearson's work and beliefs is provided, along with an in-depth examination of the authors' overall experimental design and statistical practices. In addition, portions of the study regarding intelligence and tuberculosis are discussed in more detail, along with historical reactions to their work.

  4. [Neurocosmetics, transhumanism and eliminative materialism: toward new ways of eugenics].

    Science.gov (United States)

    Echarte Alonso, Luis E

    2012-01-01

    In this paper I present similarities and connections between Transhumanism and Eliminative Materialism. Concretely, I study the arguments with which in both positions it is defended a merely instrumental idea of human body and, because of that, one infinitely mouldable. First, I show the social relevance of this idea and its projections in phenomena as medicalization of human condition and, especially, cosmetic psychopharmacology. Besides, I denounce that such influences are caused by illegitimate transference of authority between philosophical and scientific forums. Second, according to my analysis, these new postmodern fashions of chemical sentimentalism (related with radical changes on personal identity and human nature) drive to new eugenic forms what I name autoeugenics. Finally, I call attention to the important role of utopian speeches about the science of tomorrow and super-human civilization in a Carpe Diem society. In my conclusions, I claim that historical reasoning or warnings about what is coming are not efficient strategies to control neither new psychopharmacological habits nor passivity generated by them. Returning social confidence in the power of reason to achieve reality (and other human beings) is, in my opinion, the best way to rehabilitate a more and more devalued human action.

  5. Prenatal diagnosis as a tool and support for eugenics: myth or reality in contemporary French society?

    Science.gov (United States)

    Gaille, Marie; Viot, Géraldine

    2013-02-01

    Today, French public debate and bioethics research reflect an ongoing controversy about eugenics. The field of reproductive medicine is often targeted as pre-implantation genetic diagnosis (PGD), prenatal diagnosis, and prenatal detection are accused of drifting towards eugenics or being driven by eugenics considerations. This article aims at understanding why the charge against eugenics came at the forefront of the ethical debate. Above all, it aims at showing that the charge against prenatal diagnosis is groundless. The point of view presented in this article has been elaborated jointly by a geneticist and a philosopher. Besides a survey of the medical, bioethical, philosophical and social sciences literature on the topic, the methodology is founded on a joint analysis of geneticist's various consults. Evidence from office visits demonstrated that prenatal diagnosis leads to case-by-case decisions. As we have suggested, this conclusion does not mean that prenatal diagnosis is devoid of ethical issues, and we have identified at least two. The first is related to the evaluation of a decision to abort. The second line of ethical questions arises from the fact that the claim for "normality" hardly hides normative and ambiguous views about disability. As a conclusion, ethical dilemmas keep being noticeable in the field of reproductive medicine and genetic counselling, but an enquiry about eugenic tendencies probably does not allow us to understand them in the proper way.

  6. Eugenics from the New Deal to the Great Society: genetics, demography and population quality.

    Science.gov (United States)

    Ramsden, Edmund

    2008-12-01

    The relationship between biological and social scientists as regards the study of human traits and behavior has often been perceived in terms of mutual distrust, even antipathy. In the interwar period, population study seemed an area that might allow for closer relations between them-united as they were by a concern to improve the eugenic quality of populations. Yet these relations were in tension: by the early post-war era, social demographers were denigrating the contributions of biologists to the study of population problems as embodying the elitist ideology of eugenics. In response to this loss of credibility, the eugenics movement pursued a simultaneous program of withdrawal and expansion: its leaders helped focus concern with biological quality onto the developing field of medical genetics, while at the same moment, extended their scope to improving the social quality of populations through birth control policies, guided by demography. While this approach maintained boundaries between the social and the biological, in the 1960s, a revitalized American Eugenics Society helped reunite leading demographers and geneticists. This paper will assess the reasons for this period of influence for eugenics, and explore its implications for the social and biological study of human populations.

  7. From 'beastly philosophy' to medical genetics: eugenics in Russia and the Soviet Union.

    Science.gov (United States)

    Krementsov, Nikolai

    2011-01-01

    This essay offers an overview of the three distinct periods in the development of Russian eugenics: Imperial (1900-1917), Bolshevik (1917-1929), and Stalinist (1930-1939). Began during the Imperial era as a particular discourse on the issues of human heredity, diversity, and evolution, in the early years of the Bolshevik rule eugenics was quickly institutionalized as a scientific discipline--complete with societies, research establishments, and periodicals--that aspired an extensive grassroots following, generated lively public debates, and exerted considerable influence on a range of medical, public health, and social policies. In the late 1920s, in the wake of Joseph Stalin's 'Great Break', eugenics came under intense critique as a 'bourgeois' science and its proponents quickly reconstituted their enterprise as 'medical genetics'. Yet, after a brief period of rapid growth during the early 1930s, medical genetics was dismantled as a 'fascist science' towards the end of the decade. Based on published and original research, this essay examines the factors that account for such an unusual--as compared to the development of eugenics in other locales during the same period--historical trajectory of Russian eugenics.

  8. Huntington disease: a case study of early onset presenting as depression.

    Science.gov (United States)

    Duesterhus, Pia; Schimmelmann, Benno Graf; Wittkugel, Oliver; Schulte-Markwort, Michael

    2004-10-01

    Huntington disease is a dominantly inherited, neurodegenerative disease characterized by choreiform movement disturbances and dementia, usually with adult onset. The rare juvenile-onset Huntington disease differs from the adult phenotype. A case presenting twice, at age 10 with all the signs of a major depression and age 14 with mutism and rigidity, is reported. Meanwhile, the father developed the adult variant of Huntington disease. The boy's diagnosis was confirmed by molecular genetic analysis and magnetic resonance imaging. It is important to be aware of hereditary conditions such as Huntington disease and to provide family counseling before genetic testing and after the diagnosis is confirmed.

  9. The Huntington disease locus is most likely within 325 kilobases of the chromosome 4p telomere

    International Nuclear Information System (INIS)

    Doggett, N.A.; Cheng, J.F.; Smith, C.L.; Cantor, C.R.

    1989-01-01

    The genetic defect responsible for Huntington disease was originally localized near the tip of the short arm of chromosome 4 by genetic linkage to the locus D4S10. Several markers closer to Huntington disease have since been isolated, but these all appear to be proximal to the defect. A physical map that extends from the most distal of these loci, D4S90, to the telomere of chromosome 4 was constructed. This map identifies at least two CpG islands as markers for Huntington disease candidate genes and places the most likely location of the Huntington disease defect remarkably close (within 325 kilobases) to the telomere

  10. Psychodynamic theory and counseling in predictive testing for Huntington's disease.

    Science.gov (United States)

    Tassicker, Roslyn J

    2005-04-01

    This paper revisits psychodynamic theory, which can be applied in predictive testing counseling for Huntington's Disease (HD). Psychodynamic theory has developed from the work of Freud and places importance on early parent-child experiences. The nature of these relationships, or attachments are reflected in adult expectations and relationships. Two significant concepts, identification and fear of abandonment, have been developed and expounded by the psychodynamic theorist, Melanie Klein. The processes of identification and fear of abandonment can become evident in predictive testing counseling and are colored by the client's experience of growing up with a parent affected by Huntington's Disease. In reflecting on family-of-origin experiences, clients can also express implied expectations of the future, and future relationships. Case examples are given to illustrate the dynamic processes of identification and fear of abandonment which may present in the clinical setting. Counselor recognition of these processes can illuminate and inform counseling practice.

  11. Family caregivers' views on coordination of care in Huntington's disease

    DEFF Research Database (Denmark)

    Røthing, Merete; Malterud, Kirsti; Frich, Jan C

    2015-01-01

    BACKGROUND: Collaboration between family caregivers and health professionals in specialised hospitals or community-based primary healthcare systems can be challenging. During the course of severe chronic disease, several health professionals might be involved at a given time, and the patient......'s illness may be unpredictable or not well understood by some of those involved in the treatment and care. AIM: The aim of this study was to explore the experiences and expectations of family caregivers for persons with Huntington's disease concerning collaboration with healthcare professionals. METHODS......: To shed light on collaboration from the perspectives of family caregivers, we conducted an explorative, qualitative interview study with 15 adult participants experienced from caring for family members in all stages of Huntington's disease. Data were analysed with systematic text condensation, a cross...

  12. Caregiver roles in families affected by Huntington's disease

    DEFF Research Database (Denmark)

    Røthing, Merete; Malterud, Kirsti; Frich, Jan C

    2013-01-01

    AIM: The objective of this study was to explore family caregivers' experiences with the impact of Huntington's disease (HD) on the family structure and roles in the family. METHODOLOGY: We interviewed 15 family caregivers in families affected by HD, based on a semi-structured interview guide...... for impairments by taking on adult responsibilities, and in some families, a child had the role as main caregiver. The increasing need for care could cause conflicts between the role as family member and family caregiver. The burden of care within the family could fragment and isolate the family. CONCLUSIONS......: Huntington's disease has a major impact on family systems. Caregiver roles are shaped by impairments in the affected family member and corresponding dynamic adoption and change in roles within the family. Making assessments of the family structure and roles, professionals may understand more about how...

  13. "Democracy was never intended for degenerates": Alberta's flirtation with eugenics comes back to haunt it.

    Science.gov (United States)

    Cairney, R

    1996-09-15

    An Alberta woman recently won a lawsuit against the government of Alberta for wrongful sterilization that took place when she was a 14-year-old ward at the Provincial Training School for Mental Defectives. It was the first time the province has been held accountable for actions taken under the Sexual Sterilization Act, a 1927 law that promoted the theory of eugenics and led to the sterilization of more than 2800 people. It has since been repealed. A physician who served on the province's Eugenics Board said the decisions were based on the best scientific advice and medical techniques available at the time. Today, she added, eugenics is being practised in a different way through prenatal diagnosis and therapeutic abortion.

  14. Emancipation through interaction--how eugenics and statistics converged and diverged.

    Science.gov (United States)

    Louçã, Francisco

    2009-01-01

    The paper discusses the scope and influence of eugenics in defining the scientific programme of statistics and the impact of the evolution of biology on social scientists. It argues that eugenics was instrumental in providing a bridge between sciences, and therefore created both the impulse and the institutions necessary for the birth of modern statistics in its applications first to biology and then to the social sciences. Looking at the question from the point of view of the history of statistics and the social sciences, and mostly concentrating on evidence from the British debates, the paper discusses how these disciplines became emancipated from eugenics precisely because of the inspiration of biology. It also relates how social scientists were fascinated and perplexed by the innovations taking place in statistical theory and practice.

  15. Striatal grafts in a rat model of Huntington's disease

    DEFF Research Database (Denmark)

    Guzman, R; Meyer, M; Lövblad, K O

    1999-01-01

    Survival and integration into the host brain of grafted tissue are crucial factors in neurotransplantation approaches. The present study explored the feasibility of using a clinical MR scanner to study striatal graft development in a rat model of Huntington's disease. Rat fetal lateral ganglionic...... time-points graft location could not be further verified. Measures for graft size and ventricle size obtained from MR images highly correlated with measures obtained from histologically processed sections (R = 0.8, P fetal rat lateral ganglionic...

  16. Challenges of Huntington's disease and quest for therapeutic biomarkers

    Czech Academy of Sciences Publication Activity Database

    Kotrčová, Eva; Jarkovská, Karla; Valeková, Ivona; Žižková, Martina; Motlík, Jan; Gadher, S. J.; Kovářová, Hana

    2015-01-01

    Roč. 9, 1-2 (2015), s. 147-158 ISSN 1862-8346 R&D Projects: GA MŠk ED2.1.00/03.0124; GA TA ČR(CZ) TA01011466 Institutional support: RVO:67985904 Keywords : HD biomarkers * Huntington´s disease * Huntingtin neurotoxicity * Huntingtin pathogenesis Subject RIV: FH - Neurology Impact factor: 2.959, year: 2015

  17. [Unwanted memory, the Polish eugenic movement in between-the-wars period: side-notes to Krzysztof Kawalec's article].

    Science.gov (United States)

    Gawin, M

    2001-01-01

    A polemical response to Krzysztof Kawalec's article 'Dispute over Eugenics in 1918-1939', published in 'Medycyna Nowizytna' ['Modern Medicine'], 2000, vol. 7, fascicle 2. In his article Krzysztof Kawalec overlooks the issue of race, which had been at the centre of the eugenic ideology, and then erroneously situates eugenicists on the political spectrum. The eugenicists were not radicals or totalitarians but constituted a group of leftist-liberal intellectuals. Their views were rejected by the Polish government circles in power at that time, not without the deterring influence of Nazi racism and the opposition of the Catholic Church. The main reason why eugenic notions suffered a defeat in pre-war Poland was the isolation and political weakness of eugenic circles. Therefore, issues relating to Polish eugenics during the two decades between the two World Wars should be consigned to a much greater degree to the realm of learning and social movements rather than to the political sphere.

  18. The social and economic origins of genetic determinism: a case history of the American Eugenics Movement, 1900-1940 and its lessons for today.

    Science.gov (United States)

    Allen, G E

    1997-01-01

    Eugenics, the attempt to improve the genetic quality of the human species by 'better breeding', developed as a worldwide movement between 1900 and 1940. It was particularly prominent in the United States, Britain and Germany, and in those countries was based on the then-new science of Mendelian genetics. Eugenicists developed research programs to determine the degree in which traits such as Huntington's chorea, blindness, deafness, mental retardation (feeblemindedness), intelligence, alcoholism, schizophrenia, manic depression, rebelliousness, nomadism, prostitution and feeble inhibition were genetically determined. Eugenicists were also active in the political arena, lobbying in the United States for immigration restriction and compulsory sterilization laws for those deemed genetically unfit; in Britain they lobbied for incarceration of genetically unfit and in Germany for sterilization and eventually euthanasia. In all these countries one of the major arguments was that of efficiency: that it was inefficient to allow genetic defects to be multiplied and then have to try and deal with the consequences of state care for the offspring. National socialists called genetically defective individuals 'useless eaters' and argued for sterilization or euthanasia on economic grounds. Similar arguments appeared in the United States and Britain as well. At the present time (1997) much research and publicity is being given to claims about a genetic basis for all the same behaviors (alcoholism, manic depression, etc.), again in an economic context--care for people with such diseases is costing too much. There is an important lesson to learn from the past: genetic arguments are put forward to mask the true--social and economic--causes of human behavioral defects.

  19. Continuities and ruptures in the history of eugenics: an analysis from Renato Kehl publications in the Post-World War II

    Directory of Open Access Journals (Sweden)

    Leonardo Dallacqua de Carvalho

    2017-12-01

    Full Text Available Overall, the period after World War II is characterized as a turning point or discontinuance of racial theories and debate about racial identity, especially when referring to the history of eugenics. From the analysis of medical work of eugenicist Renato Kehl, the aim of this study is to investigate the continuities and discontinuities of eugenic through this author, trying to understand the way that eugenic ideas gained in the post-World War II. The continuity of Kehl publications on eugenics in the 1940s to 1960s allows us to observe the development of this debate in a context of contestation to the Eugenics theories.

  20. aliving with Huntington´s disease in the Czech Republic

    Czech Academy of Sciences Publication Activity Database

    Baxa, Monika

    2015-01-01

    Roč. 78, Suppl 2 (2015), s. 6-6 ISSN 1210-7859. [Conference on Animal Models for neurodegenerative Diseases /3./. 08.11.2015-10.11.2015, Liblice] Institutional support: RVO:67985904 Keywords : Czech Huntington Association * life with Huntington ´ disease Subject RIV: FH - Neurology

  1. 77 FR 71636 - Huntington Foam LLC, Fort Smith, AR; Notice of Revised Determination on Reconsideration

    Science.gov (United States)

    2012-12-03

    ... Smith, AR; Notice of Revised Determination on Reconsideration On August 8, 2012, the Department of Labor... workers and former workers of Huntington Foam LLC, Fort Smith, Arkansas (subject firm). The workers are... reconsideration investigation, I determine that workers of Huntington Foam LLC, Fort Smith, Arkansas, who were...

  2. Did the "Woman in the Attic" in Jane Eyre Have Huntington Disease?

    Science.gov (United States)

    Coon, Elizabeth A; Hassan, Anhar

    2015-01-01

    References to neurologic disorders are frequently found in fictional literature and may precede description in the medical literature. Our aim was to compare Charlotte Brontë's depiction of Bertha Mason in Jane Eyre to the tenets set forth in George Huntington's original essay "On chorea" with the hypothesis that Mason was displaying features of Huntington disease. Charlotte Brontë's 1847 Victorian novel Jane Eyre features the character Bertha Mason, who is portrayed with a progressive psychiatric illness, violent movements, and possible cognitive decline. Similar to Huntington's tenets, Mason has a disorder with a strong family history suggestive of autosomal dominant inheritance with onset in adulthood, and culminating in suicide. Brontë's character had features of Huntington disease as originally described by Huntington. Brontë's keen characterization may have increased awareness of treatment of neuropsychiatric patients in the Victorian era.

  3. [On the medical and publishing activities of the community of Saint Eugene].

    Science.gov (United States)

    2012-01-01

    The article deals with the role the physicians played in organization and functioning of the Community of Saint Eugene in St. Petersburg in 1882-1918. The typography production of the Community being of interest for history of medicine is examined.

  4. The Killing Thought in the Eugenic Era and Today: A Commentary on Hollander's Essay.

    Science.gov (United States)

    Wolfensberger, Wolf

    1989-01-01

    Two responses to Hollander (EC 220 057) and the author's counter-response note similarities between "mercy killing" of people with mental retardation and deliberate abortion of the unborn, misuse of the history of eugenics, and a defense of the author's historical scholarship. (DB)

  5. The Eugenics Movement and Its Impact on Art Education in the United States

    Science.gov (United States)

    Hunter-Doniger, Tracey

    2017-01-01

    This article argues that the eugenics movement has had three major influences on education in the United States, and reveals how these influences have had an impact on visual arts education in particular. The first influence began with a debate between John Dewey and David Snedden that resulted in a two-tiered tracking system that separated…

  6. Hereditarian Ideas and Eugenic Ideals at the National Deaf-Mute College

    Science.gov (United States)

    Ennis, William Thomas, III

    2015-01-01

    For the past two centuries deaf people in the United States have faced more or less intense skepticism about their marriages to each other, largely due to fears of inherited deafness. These fears, while always present, have waxed and waned over time, becoming most prominent during the eugenics era of the late nineteenth and early twentieth…

  7. The Human Genome Project and Eugenics: Identifying the Impact on Individuals with Mental Retardation.

    Science.gov (United States)

    Kuna, Jason

    2001-01-01

    This article explores the impact of the mapping work of the Human Genome Project on individuals with mental retardation and the negative effects of genetic testing. The potential to identify disabilities and the concept of eugenics are discussed, along with ethical issues surrounding potential genetic therapies. (Contains references.) (CR)

  8. Reflections on Mental Retardation and Eugenics, Old and New: Mensa and the Human Genome Project.

    Science.gov (United States)

    Smith, J. David

    1994-01-01

    This article addresses the moral and ethical issues of mental retardation and a continuing legacy of belief in eugenics. It discusses the involuntary sterilization of Carrie Buck in 1927, support for legalized killing of subnormal infants by 47% of respondents to a Mensa survey, and implications of the Human Genome Project for the field of mental…

  9. Professionalization and the Null Curriculum: The Case of the Popular Eugenics Movement and American Educational Studies.

    Science.gov (United States)

    Selden, Steven

    1987-01-01

    Presents an essay review of three recent books on eugenics, a once popular quasiscientific and politically conservative social movement devoted to the improvement of humankind through programs of selective breeding and marriage restriction. States that educators must study and come to grips with the meaning of this movement in order to appreciate…

  10. Eugenics and Education: A Note on the Origins of the Intelligence Testing Movement in England.

    Science.gov (United States)

    Lowe, Roy

    1980-01-01

    Examines influence of Francis Galton and the Eugenics Education Society in the intelligence testing movement in England (early 1900s). For eugenicists, the central issue confronting society was the problem of racial deterioration. They responded with modification of the Binet-Simon tests and developed tests to examine the whole ability range.…

  11. Thoughts on the Changing Meaning of Disability: New Eugenics or New Wholeness?

    Science.gov (United States)

    Smith, J. David

    1999-01-01

    Reviews the impact of eugenics on people with disabilities and the danger that they will be further devalued in a world of increasing genetic manipulation. Margaret Mead's concept of providing opportunities for all people to learn how to participate wholly in society and the need for an ethical revolution are discussed. (CR)

  12. Eugenics for the doctors: medicine and social control in 1930s Turkey.

    Science.gov (United States)

    Salgirli, Sanem Güvenç

    2011-07-01

    This article aims to add a new dimension to the analysis of the relationship between medicine and eugenics via a discussion of the community of Turkish physicians in the period between the two World Wars. It argues that even though the relationship between the two fields has been discussed before in terms of the professional ideology of doctors, the medical community itself has not come under scrutiny by scholars. It is the purpose of this article to show eugenics as the main unifying edifice of that community and argue that eugenics is to be found in the patterns of social reproduction of the doctors as part of the professional middle class in addition to being those who transfer knowledge of medicine. As can be seen in Turkey in the 1930s, the doctors, in their efforts to construct themselves as the pioneers of modern scientific medicine, as well as the new ruling class of the country, used eugenics extensively both as a means of self-identification, and as a way to build a professional class "fit" to rule the country. © The Author 2010. Published by Oxford University Press. All rights reserved.

  13. The Hunt for Disability: The New Eugenics and the Normalization of School Children.

    Science.gov (United States)

    Baker, Bernadette

    2002-01-01

    Examines issues of sameness, difference, equality, and democracy in present public school systems, focusing on the question of (dis)ability and implications of rethinking (dis)ability as an ontological issue before its inscription as an educational one concerning the politics of inclusion. The paper analyzes old and new discourses of eugenics as…

  14. A not-so-new eugenics. Harris and Savulescu on human enhancement.

    Science.gov (United States)

    Sparrow, Robert

    2011-01-01

    John Harris and Julian Savulescu, leading figures in the "new' eugenics, argue that parents are morally obligated to use genetic and other technologies to enhance their children. But the argument they give leads to conclusions even more radical than they acknowledge. Ultimately, the world it would lead to is not all that different from that championed by eugenicists one hundred years ago.

  15. Education Policy and Biological Science: Genetics, Eugenics, and the College Textbook, c. 1908-1931.

    Science.gov (United States)

    Selden, Steven

    1985-01-01

    A revolution in genetics is occurring, but when looking ahead, we must not romanticize the past. The social history of genetics, and American education's association with eugenics, make it necessary that we understand that both education and science are informed by social attitudes. (MT)

  16. A Paradigmatic Disagreement in "Dialogue on Dialogic Pedagogy" by Eugene Matusov and Kiyotaka Miyazaki

    Science.gov (United States)

    Marjanovic-Shane, Ana

    2014-01-01

    I read with a great pleasure the heated dialogue on Dialogic Pedagogy between Eugene Matusov and Kiyotaka Miyazaki. It provided me with one of those rare occasions where I could both witness, and also join, the workings of two minds as they struggled with and against each other to construct, de-construct, and reconstruct their visions of dialogic…

  17. Eugene Wigner – A Gedanken Pioneer of the Second Quantum Revolution

    Directory of Open Access Journals (Sweden)

    Zeilinger Anton

    2014-01-01

    Full Text Available Eugene Wigner pointed out very interesting consequences of quantum physics in elegant gedanken experiments. As a result of technical progress, these gedanken experiments have become real experiments and contribute to the development of novel concepts in quantum information science, often called the second quantum revolution.

  18. EUGENICS, THE GIRARDIAN THEORY OF SACRIFICE, AND THE NEW DARWINIAN ETHICS

    Directory of Open Access Journals (Sweden)

    THOMAS RYBA

    2011-11-01

    Full Text Available In this paper I argue that, though many ethical systems recognizesacrifice as moral action, the utilitarian appropriation of Neo-Darwinian theory especially as it justifies eugenics as a “winnowing of the human stock” is in Girardian terms analogous to the sacrificial scapegoating of innocents. This argument is accomplished in four steps. (1 I show that within some ethical systems sacrifice is recognized as moral behavior driven by a specific axiology (or theory of value (2 I discuss some of the meta-ethical problems connected with Neo-Darwinian naturalism and naturalism, in general. (3 I show how modern varieties of naturalism and Darwinian naturalism, inparticular are especially inclined to lead to a moral justification of eugenic scapegoating and how Girardian theory is helpful in identifying the moral disorder connected with eugenics. (4 Finally, I conclude by arguing that Darwin’s thought is susceptible to another kind of interpretation, one that need not lead to the valorization of eugenics.

  19. Obituary: Harding Eugene (Gene) Smith, Jr., 1947-2007

    Science.gov (United States)

    Lonsdale, Carol; Soifer, Tom

    2009-01-01

    Harding Eugene Smith Junior, or Gene, as he was known to family, friends, and colleagues, passed away after an automobile accident in Encinitas, California, on 16 August 2007. He was 60 years old. Gene had recently retired from UCSD after thirty years of service. A memorial service was held at Quail Botanical Gardens in Encinitas, California, on 23 August 2007. A web page is dedicated to his memory at http://harding.smith.muchloved.com, where contributions of memories are invited. Gene was born in San Jose, California in 1947, to Harding Eugene Smith Senior, and Bernice Smith (nee Smith). Harding Smith Senior was an air-force navigator; therefore Gene spent his childhood moving from one air-force base to another. Although an only child, Gene was very close to his cousin Meg, whom he lived nearby to in Gilroy for a time, and the two were like brother and sister. The elder Harding Smith was lost in action over Cambodia in the mid-sixties. Gene was a dedicated student, a boy scout, and a Presidential Scholar. He majored in Physics at Caltech, where he also took a lively interest in the football team and the Glee Club, and was elected a House Officer. To his close friends, he was known at Caltech as Smitty, and the closest of them was Rob Drew, who gave a glimpse into that period of Gene's life at the memorial: "Gene arrived early at campus his first year, in response to an invitation to join the football team. Gene's size and features reminded the head coach of a long-forgotten player named 'Johnson.' After a few days of confusion, Gene simply replaced the name on his helmet. 'Johnson!' coach would yell, 'get in there!' If Johnson was going to get to play, Gene was going to be the best Johnson available!" Gene spent the summer of 1966 working at Kitt Peak, where his lifetime love of observing with ground-based telescopes began, though he learned some things the hard way, such as the fact that trying to squeeze 40,000 numbers onto a computer that stored only 32

  20. Radiosensitivity in Huntington's disease: implications for pathogenesis and presymptomatic diagnosis

    International Nuclear Information System (INIS)

    Moshell, A.N.; Tarone, R.E.; Barrett, S.F.; Robbins, J.H.

    1980-01-01

    Huntington's disease (HD) is a dominantly inherited fatal disorder characterised by premature death of nerve cells. Cultured lymphocyte lines from four patients with HD were abnormally sensitive to the lethal effects of X rays, as were lines from two of five subjects at risk for HD. The hypersensitivity is specific for ionising radiation, since HD lines had normal survival after exposure to ultraviolet radiation. The hypersensitivity, which may reflect an inherited defect in DNA repair, provides the basis for a presymptomatic diagnostic test for the disease. (author)

  1. Proceedings of the National Silviculture Workshop: Density of Stocking Control; Eugene, Oregon; October 13-15, 1976

    Science.gov (United States)

    Jack H. Usher; Daniel B. Jones; A. R. Stage; Benjamin A. Roach; Gilbert B. Schubert; Darrell W. Crawford; Gilbert H. Schubert; Walter Fox; Edward A. Smith; Richard E. Lowrey Sofes; Richard F. Watt

    1976-01-01

    The 1976 National Silviculture Workshop was held in Eugene, Oregon, on October 13-15, 1976. The objectives were to discuss second growth management of individual stands, with particular emphasis on the control of stand density.

  2. [Eugen Helimski, Urlike Kahrs. Nordselkupisches Wörterbuch von F. G. Mal'cev (1903)] / Ago Künnap

    Index Scriptorium Estoniae

    Künnap, Ago, 1941-

    2003-01-01

    Raamatust: Helimski, Eugen, Kahrs, Urlike. Nordselkupisches Wörterbuch von F. G. Mal'cev (1903). Hamburg, 2001. (Hamburger Sibirische und Finnisch-Ugrische Materialen / Habent Sua Fata Manuscripts; 1)

  3. Mäletamine, aeglus ja kontrollimatu kapitalism / Eugen Ruge ; intervjueerinud Dieter Neidlinger ; saksa keelest eesti keelde vahendanud Aija Sakova

    Index Scriptorium Estoniae

    Ruge, Eugen, 1954-

    2016-01-01

    Intervjuu kirjandusfestivalil "Prima vista" esineva saksa kirjaniku Eugen Rugega tema romaanides "Kahaneva valguse aegu" ("In Zeiten des abnehmenden Lichts") ja "Cabo de Gata" ning käsil olevast teosest

  4. Motor outcome measures in Huntington disease clinical trials.

    Science.gov (United States)

    Reilmann, Ralf; Schubert, Robin

    2017-01-01

    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 effects remain a concern. In addition, the UHDRS-TMS was designed to primarily assess motor symptoms in manifest HD. Recently, advancement of technology resulted in the introduction of the objective Q-Motor (i.e., Quantitative-Motor) assessments in biomarker studies and clinical trials in HD. Q-Motor measures detected motor signs in blinded cross-sectional and longitudinal analyses of manifest, prodromal, and premanifest HD cohorts up to two decades before clinical diagnosis. In a multicenter clinical trial in HD, Q-Motor measures were more sensitive than the UHDRS-TMS and exhibited no placebo effects. Thus, Q-Motor measures are currently explored in several multicenter trials targeting both symptomatic and disease-modifying mechanisms. They may supplement the UHDRS-TMS, increase the sensitivity and reliability in proof-of-concept studies, and open the door for phenotype assessments in clinical trials in prodromal and premanifest HD. Copyright © 2017 Elsevier B.V. All rights reserved.

  5. Huntington's Disease in a Patient Misdiagnosed as Conversion Disorder.

    Science.gov (United States)

    Nogueira, João Machado; Franco, Ana Margarida; Mendes, Susana; Valadas, Anabela; Semedo, Cristina; Jesus, Gustavo

    2018-01-01

    Huntington's disease (HD) is an inherited, progressive, and neurodegenerative neuropsychiatric disorder caused by the expansion of cytosine-adenine-guanine (CAG) trinucleotide in Interested Transcript (IT) 15 gene on chromosome 4. This pathology typically presents in individuals aged between 30 and 50 years and the age of onset is inversely correlated with the length of the CAG repeat expansion. It is characterized by chorea, cognitive deficits, and psychiatric symptoms. Usually the psychiatric disorders precede motor and cognitive impairment, Major Depressive Disorder and anxiety disorders being the most common presentations. We present a clinical case of a 65-year-old woman admitted to our Psychiatric Acute Unit. During the 6 years preceding the admission, the patient had clinical assessments made several times by different specialties that focused only on isolated symptoms, disregarding the syndrome as a whole. In the course of her last admission, the patient was referred to our Neuropsychiatric Team, which made the provisional diagnosis of late-onset Huntington's disease, later confirmed by genetic testing. This clinical vignette highlights the importance of a multidisciplinary approach to atypical clinical presentations and raises awareness for the relevance of investigating carefully motor symptoms in psychiatric patients.

  6. Apolipoprotein E and presenilin-1 genotypes in Huntington's disease.

    Science.gov (United States)

    Panas, M; Avramopoulos, D; Karadima, G; Petersen, M B; Vassilopoulos, D

    1999-07-01

    Huntington's disease (HD) is an autosomal dominant degenerative disease of the central nervous system manifested by involuntary movements (chorea), psychiatric manifestations, and cognitive impairment with a variable age at onset. This variability is mainly attributed to genetic factors. The so-called aging genes [e.g., those for apolipoprotein E (APOE) and presenilin-1 (PS-1) have been implicated in determining the age at onset of Alzheimer's disease, a disease sharing common clinical features with HD. In 60 unrelated patients suffering from HD (mean age at onset 40.1 years, range 20-65) we determined number of CAG repeats and the distribution of the APOE alleles (epsilon2, epsilon3, epsilon4) and PS-1 alleles. The results showed that: (a) The age at onset was higher in the group of patients with the epsilon4 allele (51.6 vs. 38.0 P<0.002), (b) The correlation between the age at onset and the number of CAG repeats was strong in patients with the epsilon3/epsilon3 genotype while it was not detected in patients with epsilon3/epsilon4 genotype. (c) No correlation was found between age at onset and PS-1 alleles. In conclusion, APOE seems to be a significant factor influencing the age at onset of Huntington's disease.

  7. The Liberal Eugenics: A Look from the Composition the Future of Human Nature by Jürgen Habermas

    OpenAIRE

    Freitas, Riva Sobrado De; Zilio, Daniela

    2015-01-01

    This article intends to analyze the liberal eugenics from the understanding of Jürgen Habermas in the composition The Future of Human Nature, mainly with respect to the possibilities that the subject exposed to genetic manipulation procedures may have hurt its right to self-understanding and, consequently, its personal dignity. The purpose consists in investigating the idea introduced by the author about the liberal eugenics and its possible consequences in relation to the rights of the subje...

  8. Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome.

    Science.gov (United States)

    Garcia-Moreno, Hector; Fassihi, Hiva; Sarkany, Robert P E; Phukan, Julie; Warner, Thomas; Lehmann, Alan R; Giunti, Paola

    2018-01-01

    Xeroderma pigmentosum is characterized by cutaneous, ophthalmological, and neurological features. Although it is typical of childhood, late presentations can mimic different neurodegenerative conditions. We report two families presenting as Huntington's disease-like syndromes. The first case (group G) presented with neuropsychiatric features, cognitive decline and chorea. Typical lentigines were only noticed after the neurological disease started. The second case (group B) presented adult-onset chorea and neuropsychiatric symptoms after an aggressive ocular melanoma. Xeroderma pigmentosum can manifest as a Huntington's Disease-like syndrome. Classic dermatological and oncological features have to be investigated in choreic patients with negative genetic tests for Huntington's disease-like phenotypes.

  9. Hitler's bible: an analysis of the relationship between American and German eugenics in pre-war Nazi Germany.

    Science.gov (United States)

    Brown, Susan

    2009-06-01

    Throughout the last century the wellbeing of those with disability has been threatened by the idea of eugenics. The most notable and extreme example of this could be considered to have been carried out during World WarTwo, within Nazi eugenic programmes. These resulted in the sterilisation and killing of hundreds of thousands of disabled people. Through research of a wide range of sources it has been established that much of the inspiration and encouragement for this rapidly progressing movement in Germany initially came from America, most notably from California. American eugenicists expressed interest, and at times jealousy, at the speed of the progression in German eugenics. German Sterilisation laws were drafted following careful study of American experiments and research, while financial support from a number of American individuals encouraged further German research. Correspondence between influential leaders, including Hitler, Grant and Whitney, Verschuer and Popenoe, on both sides also added to the developing relationship. In conclusion, although there are a number of vital differences between the progress of the eugenics programme in America and in pre-war Nazi Germany, and eugenics in America never produced the massive genocide that occurred in Germany, it is clear that the research, encouragement and enthusiasm from America had a profound influence on the rapidly growing Nazi eugenics movement.

  10. A Child's Right to Be Well Born: Venereal Disease and the Eugenic Marriage Laws, 1913-1935.

    Science.gov (United States)

    Lombardo, Paul A

    2017-01-01

    An extensive literature describes the legal impact of America's eugenics movement, and the laws mandating sterilization, restriction of marriage by race, and ethnic bans on immigration. But little scholarship focuses on the laws adopted in more than 40 states that were commonly referred to as "eugenic marriage laws." Those laws conditioned marriage licenses on medical examinations and were designed to save innocent women from lives of misery, prevent stillbirth or premature death in children, and save future generations from the myriad afflictions that accompanied "venereal infection." Medical journals, legal journals, and every kind of public press outlet explained the "eugenic marriage laws" and the controversies they spawned. They were inextricably bound up in reform movements that attempted to eradicate prostitution, stamp out STIs, and reform America's sexual mores in the first third of the 20th century. This article will explain the pedigree of the eugenic marriage laws, highlight the trajectory of Wisconsin's 1913 eugenic enactment, and explore how the Wisconsin Supreme Court case upholding the law paved the way for the majority of states to regulate marriage on eugenic grounds.

  11. 'These pushful days': time and disability in the age of eugenics.

    Science.gov (United States)

    Baynton, Douglas C

    2011-01-01

    At the turn of the twentieth century, social attitudes toward disability turned sharply negative. An international eugenics movement brought about restrictive immigration laws in the United States and other immigrant nations. One cause was the changing understanding of time, both historical and quotidian, that accompanied the advent of evolutionary theory and a competitive industrial economy. As analogies of competition became culturally ubiquitous, new words to talk about disability such as 'handicapped', 'retarded', 'abnormal', 'degenerate', and 'defective', came into everyday use, all of them explicitly or implicitly rooted in new ways of thinking about time. The intense fear of disability that characterised the eugenics movement grew, in good part, from this new and unsettling vision of time.

  12. From political economy to sociology: Francis Galton and the social-scientific origins of eugenics.

    Science.gov (United States)

    Renwick, Chris

    2011-09-01

    Having coined the word 'eugenics' and inspired leading biologists and statisticians of the early twentieth century, Francis Galton is often studied for his contributions to modern statistical biology. However, whilst documenting this part of his work, historians have frequently neglected crucial aspects of what motivated Galton to establish his eugenics research programme. Arguing that his work was shaped more by social than by biological science, this paper addresses these oversights by tracing the development of Galton's programme, from its roots in a debate about political economy to his appeals for it to be taken up by sociologists. In so doing, the paper not only returns Galton's ideas to their original context but also provides a reason to reflect on the place of the social sciences in history-of-science scholarship.

  13. From species ethics to social concerns: Habermas's critique of "liberal eugenics" evaluated.

    Science.gov (United States)

    Árnason, Vilhjálmur

    2014-10-01

    Three arguments of Habermas against "liberal eugenics" -- the arguments from consent, responsibility, and instrumentalization -- are critically evaluated and explicated in the light of his discourse ethics and social theory. It is argued that these arguments move partly at a too deep level and are in part too individualistic and psychological to sufficiently counter the liberal position that he sets out to criticize. This is also due to limitations that prevent discourse ethics from connecting effectively to the moral and political domains, e.g., through a discussion of justice. In spite of these weaknesses, Habermas's thesis is of major relevance and brings up neglected issues in the discussion about eugenic reproductive practices. This relevance has not been duly recognized in bioethics, largely because of the depth of his speculations of philosophical anthropology. It is argued that Habermas's notion of the colonization of the lifeworld could provide the analytical tool needed to build that bridge to the moral and political domain.

  14. Eugenics and moral authorship. Analysis of a Habermas´s thesis

    Directory of Open Access Journals (Sweden)

    César Ortega Esquembre

    2017-08-01

    Full Text Available The aim of this paper is to study the Jürgen Habermas´s vision of genetic manipulation; in particular, it will be addressed critically his assumption that the genetically engineered person would loose his awareness of authorship. In the author´s view, positive genetic intervention —one that is to genetically enhance the subject— would eliminate the awareness of authorship of that subject, as well as his self-understanding as moral agent. Two aspects of the question will be approached: firstly, the correctness or incorrectness of Habermas´s thesis. Secondly, the relevance of the thesis to oppose positive eugenics. Could be other arguments considered within Habermas´s conceptual framework to oppose positive eugenics?

  15. A gift of prophecy essays in celebration of the life of Robert Eugene Marshak

    CERN Document Server

    1994-01-01

    Robert Eugene Marshak (1916-92) devoted much of his life to helping other people carry out scientific research and gather to discuss their work. In addition to his scientific statesmanship, he was an extraordinarily gifted research scientist, and many of his scientific contributions have been prophetic. This book pays homage to his creativity and continuing work, with contributions from many of the people whose lives have been influenced by him.

  16. Hellenism, Hebraism, and the Eugenics of Culture in E.M. Forster's Howards End

    OpenAIRE

    Jacobowitz, Seth

    2004-01-01

    Seth Jacobowitz, in his paper "Hellenism, Hebraism, and the Eugenics of Culture in E.M. Forster's Howards End," explores how the culturalist principles of Hellenism and Hebraism theorized by Matthew Arnold as the basis of Englishness in Culture and Anarchy (1869) were incorporated into the text of E.M. Forster's Howards End (1910) to show the close institutional and conceptual linkages Forster shared with Arnold. Further, Jacobowitz seeks to bring Howards End into dialog with Forster's only m...

  17. [Transition in the midwifery profession. 25. The prewar birth control movement and the concept of eugenics].

    Science.gov (United States)

    Obayashi, M

    1987-08-01

    The concept of eugenics played a significant role in the pre-war birth control movement. Some favored birth control from the standpoint of an individual's right to happiness, while others were against it from the standpoint of preservation of good stock for the nation. Yamamoto, Nobuharu (1889-1929), who translated Margaret Sanger's speech and her book in 1922, advocated birth control purely from a biologist's point of view. Birth control is necessary for the survival of strong healthy human beings capable of overcoming all the difficulties in their lives. Birth control is a form of natural selection consciously done to avoid overburdening and wasting individual lives. Nagai, Sen (1876-1957) was opposed to birth control from eugenicc' point of view. He became the 1st president of Japan Racial Hygiene Society in 1930 and founded Eugenics/Marriage Counseling Clinic in 1933. In his book on eugenics published in 1936 he stressed the importance of continuation of race by protecting good stock and eliminating poor stock by sterilization. Birth control was opposed because it will shorten the life of an ethnic group or a race. Furuya, Yoshio (1890-1974), also a racial hygiene major, supported population policies based on eugenics. He studied a trend in childbirth among women of different professions and geographical areas. Educated and cultured urban upper-middle class women showed a sudden decline in childbirth in their later years of marriage, suggesting the prevalence of birth control among them, while less educated low-income women continued to reproduce. He opposed to birth control but was in favor of sterilization for eliminating poor stock.

  18. Empirical Asset Pricing: Eugene Fama, Lars Peter Hansen, and Robert Shiller

    OpenAIRE

    Campbell, John Y.

    2016-01-01

    The Nobel Memorial Prize in Economic Sciences for 2013 was awarded to Eugene Fama, Lars Peter Hansen, and Robert Shiller for their contributions to the empirical study of asset pricing. Some observers have found it hard to understand the common elements of the laureates research, preferring to highlight areas of disagreement among them. This paper argues that empirical asset pricing is a coherent enterprise, which owes much to the laureates seminal contributions, and that important themes in ...

  19. Digital bedrock geologic map of parts of the Huntington, Richmond, Bolton and Waterbury quadrangles, Vermont

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital Data from VG95-9A Thompson, PJ�and Thompson, TB, 1995, Digital bedrock geologic map of parts of the Huntington, Richmond, Bolton and Waterbury quadrangles,...

  20. The role of tau in the pathological process and clinical expression of Huntington's disease

    DEFF Research Database (Denmark)

    Vuono, Romina; Winder-Rhodes, Sophie; de Silva, Rohan

    2015-01-01

    and progression of Huntington's disease, the exact molecular mechanisms driving its pathogenic cascade and clinical features, especially the dementia, are not fully understood. Recently the microtubule associated protein tau, MAPT, which is associated with several neurodegenerative disorders, has been implicated......-mortem brain samples from patients with Huntington's disease (n = 16) compared to cases with a known tauopathy and healthy controls. Next, we undertook a genotype-phenotype analysis of a large cohort of patients with Huntington's disease (n = 960) with a particular focus on cognitive decline. We report...... not only on the tau pathology in the Huntington's disease brain but also the association between genetic variation in tau gene and the clinical expression and progression of the disease. We found extensive pathological inclusions containing abnormally phosphorylated tau protein that co-localized in some...

  1. Huntington's disease does not appear to increase the risk of diabetes mellitus

    DEFF Research Database (Denmark)

    Boesgaard, T W; Nielsen, Troels Tolstrup; Josefsen, Knud Elnegaard

    2009-01-01

    Huntington's disease (HD) is an autosomal, dominantly inherited, neurodegenerative disorder characterised by neurological, cognitive and psychiatric symptoms. HD has been associated with diabetes mellitus, which is, to some extent, supported by studies in transgenic HD mice. In transgenic mice...

  2. Transgenic miniature pig as a model for the study of Huntington´s Disease

    Czech Academy of Sciences Publication Activity Database

    Baxa, Monika

    2012-01-01

    Roč. 22, č. 2 (2012), s. 23-25 ISSN 1210-1737 Institutional support: RVO:67985904 Keywords : transgenic pig * Huntington ´s disease * large animal model * neurodegenerative disease Subject RIV: EB - Genetics ; Molecular Biology

  3. Huntington Revisited: Is Conservative Realism Still Essential for the Military Ethic

    National Research Council Canada - National Science Library

    Mahoney-Norris, Kathleen A

    2001-01-01

    ...). Furthermore, Huntington has developed what appears to be a powerful argument as to why conservative realism should be considered a fundamental component of the professional ethic of the military officer...

  4. The economics of race and eugenic sterilization in North Carolina: 1958-1968.

    Science.gov (United States)

    Price, Gregory N; Darity, William A

    2010-07-01

    Theoretical justifications for state-sanctioned sterilization of individuals provided by Irving Fisher rationalized its racialization on grounds that certain non-white racial groups, particularly blacks due to their dysgenic biological and behavioral traits, retarded economic growth and should be bred out of existence. Fisher's rationale suggests that national or state level eugenic policies that sterilized the so-called biological and genetically unfit could have been racist in both design and effect by disproportionately targeting black Americans. We empirically explore this with data on eugenic sterilizations in the State of North Carolina between 1958 and 1968. Count data parameter estimates from a cross-county population allocation model of sterilization reveal that the probability of non-institutional and total sterilizations increased with a county's black population share-an effect not found for any other racial group in the population. Our results suggest that in North Carolina, eugenic sterilization policies were racially biased and genocidal. 2010 Elsevier B.V. All rights reserved.

  5. The doers of good. Scandinavian historians revise the social history of eugenics(1997-2001).

    Science.gov (United States)

    Zylberman, Patrick

    2008-01-01

    Late disclosure of the large scale of sterilization practices in the Nordic countries created an outburst of scandal: did these policies rely on coercion? To what extent? Who in the end was responsible? Sterilization practices targeted underprivileged people first. The mentally retarded and women were their first victims. Operations were very frequently determined by other people's manipulative or coercive influences. Should the blame be put on the Social-Democrats in power throughout the period (except in Finland and Estonia)? Apart from Denmark, perhaps, local physicians and local services, more than governments, seemed to have strongly supported sterilization practices. Teetotalers and feminists shared responsibilities. How can one explain that eugenics finally declined? Based on a sound application of the Hardy-Weinberg law, the science of the eugenicists was correct. Was it politics? But uncovering of the Nazi crimes had only a very small impact on eugenics. Some authors underline the fact that the Nordic scientific institutions were particularly suited to liberal values. Others point to the devastating effect on eugenics once hereditarist psychiatry fell from favor in the middle of the sixties.

  6. [Eugenics' extension in the Spanish health care system through the prenatal diagnosis].

    Science.gov (United States)

    Rodríguez Martín, Esteban

    2012-01-01

    The wide implantation of strategies of sifted or prenatal selection close to laws that protect the destruction of the human life before the childbirth in the whole world, they are giving place to an increasing number of eugenic abortions. In Spain, the law 2/2010 of the sexual and reproductive health and voluntary interruption of pregnancy there has supposed the liberalization of the eugenic abortion without term limit. In we make concrete, the sanitary national and international policies of prenatal selection of Down's Syndrome, which they chase to facilitate the total or partial destruction before the childbirth of this human group, submitting it to a few particular conditions of existence during his prenatal life in those who will be an object of a series of technologies of selection, they might be qualified of genocidal policies if we consider the definition of genocide given by United Nations. In consequence, the sanitary agent who takes part without objection in the above mentioned programs promoted by the principal agents, meets turned into a necessary cooperator of the abortion who justifies itself in the supposition of "foetal risk". We can conclude that we are present at an eugenic drift of the prenatal diagnosis that is opposite to the ethical beginning of the medical profession.

  7. Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

    OpenAIRE

    Hensman Moss, Davina J; Pardinas, Antonio; Langbehn, Douglas; Lo, Kitty; Leavitt, Blair R; Roos, Raymund; Durr, Alexandra; Mead, Simon; Holmans, Peter; Jones, Lesley; Tabrizi, Sarah J; Coleman, A; Santos, R Dar; Decolongon, J; Sturrock, A

    2017-01-01

    Background\\ud \\ud Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure.\\ud \\ud Methods\\ud \\ud We generated a progression score on the basis of principal ...

  8. Reduction in mitochondrial DNA copy number in peripheral leukocytes after onset of Huntington's disease

    DEFF Research Database (Denmark)

    Petersen, Maria Hvidberg; Budtz-Jørgensen, Esben; Sørensen, Sven Asger

    2014-01-01

    Huntington's disease (HD) is an inherited neurodegenerative disorder characterised by movement disorder, cognitive symptoms and psychiatric symptoms with predominantly adult-onset. The mutant huntingtin protein leads to mitochondrial dysfunction in blood leukocytes. This discovery led to the inve......Huntington's disease (HD) is an inherited neurodegenerative disorder characterised by movement disorder, cognitive symptoms and psychiatric symptoms with predominantly adult-onset. The mutant huntingtin protein leads to mitochondrial dysfunction in blood leukocytes. This discovery led...

  9. [The life as a caregiver of a person affected by Chorea Huntington: multiple case study].

    Science.gov (United States)

    Winkler, Evi; Ausserhofer, Dietmar; Mantovan, Franco

    2012-10-01

    Chorea Huntington is an autosomal dominantly inherited, neurodegenerative brain disorder that leads to involuntary hyperkinesia, psychotic symptoms and dementia. The illness not only changes the life of the person itself but also the world of the caregivers. The challenges in the care of a person which is affected by Chorea Huntington have an effect on the daily living as an assemblage of natural and social conditions. a multiple case study was conducted. It included semi-structured interviews with three caregivers of people with Chorea Huntington in South Tyrol. The qualitative data was analyzed using the qualitative structured analysis of Mayring (2007). The objective of this study was to describe the phenomenon of change of life from family members that care people affected by Chorea Huntington in a specific cultural setting (South Tyrol, Italy). The caregivers reported that the diagnosis of Chorea Huntington leads to negative changes in "relationship and family". Particularly, frustration, aggression, impatience and apathy were perceived as stressful. At the same time they highlight the positive changes through home care. They report that the relationship became more intimate and integral and it was characterized by more cohesion. Family caregivers get valuable support from the home care service, however, they complain that there is no facility in South Tyrol, which is specialized to care people with Chorea Huntington. Therefore, the caregivers have to "give up a lot" and don't have any personal desires, dreams and expectations for the future. The caregivers have learned independently to deal with their changed life step by step, and to see also the positive effects of the caring role. The life of family caregivers of a person which is affected by Chorea Huntington is characterized by abandonment. A continuous and professional care would be important for the affected and his caregiver. A continuous and professional care is important for both, addressing the

  10. Sodium phenylbutyrate in Huntington's disease: a dose-finding study.

    Science.gov (United States)

    Hogarth, Penelope; Lovrecic, Luca; Krainc, Dimitri

    2007-10-15

    Transcriptional dysregulation in Huntington's disease (HD) is mediated in part by aberrant patterns of histone acetylation. We performed a dose-finding study in human HD of sodium phenylbutyrate (SPB), a histone deacetylase inhibitor that ameliorates the HD phenotype in animal models. We used a dose-escalation/de-escalation design, using prespecified toxicity criteria and standard clinical and laboratory safety measures. The maximum tolerated dose was 15 g/day. At higher doses, toxicity included vomiting, lightheadedness, confusion, and gait instability. We saw no significant laboratory or electrocardiographic abnormalities. Gene expression changes in blood suggested an inverse dose-response. In conclusion, SPB at 12 to 15 g/day appears to be safe and well-tolerated in human HD. 2007 Movement Disorder Society

  11. Making a measurable difference in advanced Huntington disease care.

    Science.gov (United States)

    Moskowitz, Carol Brown; Rao, Ashwini K

    2017-01-01

    Neurologists' role in the care of people with advanced Huntington disease (HD) (total functional capacity speech and language pathology), behavioral and psychiatric professionals for problem-solving strategies, which must be reviewed with direct care staff before implementation; (3) encourage and support qualitative and quantitative interdisciplinary research studies, and randomized controlled studies of nonpharmacologic interventions; and (4) assist in the development of meaningful measures to further document what works to provide a good quality of life for the patient and family and a comfortable thoughtful approach to a good death. Collaborative models of care depend on: (1) clear communication; (2) ongoing education and support programs; with (3) pharmacologic and rehabilitation interventions, always in the context of respect for the person with HD, a preservation of the individuals' dignity, autonomy, and individual preferences. Copyright © 2017 Elsevier B.V. All rights reserved.

  12. Swallowing endoscopy findings in Huntington's disease: a case report.

    Science.gov (United States)

    Alves, Thaís Coelho; Cola, Paula Cristina; Santos, Rarissa Rúbia Dallaqua Dos; Motonaga, Suely Mayumi; Silva, Roberta Gonçalves da

    2016-01-01

    Huntington's disease (HD) is a degenerative genetic disorder with autosomal-dominant transmission. The triad of symptoms of this disease consists of psychiatric disorders, jerky movements, and dementia. Oropharyngeal dysphagia, which is more evident with disease progression, is also present. Few studies have addressed the swallowing characteristics using objective analysis in this population. The purpose of this research was to describe the swallowing endoscopic findings of the pharyngeal phase in HD. This is a cross-sectional study addressing a clinical case which included two individuals of the same family, male, 32 and 63 years old, designated as individual A and individual B, with progression of the disease for five and 13 years, respectively. Consistent liquid, nectar, and puree were offered during the evaluation. There was presence of posterior oral spillage in liquid and nectar, small amount of pharyngeal residues, and no laryngeal penetration or aspiration in the individuals with HD in this study.

  13. Structural imaging in premanifest and manifest Huntington disease.

    Science.gov (United States)

    Scahill, Rachael I; Andre, Ralph; Tabrizi, Sarah J; Aylward, Elizabeth H

    2017-01-01

    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 the spectrum of disease from premanifest through to manifest disease. We then consider how these neuroimaging findings relate to patient function and nonimaging biomarkers, and can be used to predict disease onset. Finally we review the utility of imaging measures for assessment of treatment efficacy in clinical trials. Copyright © 2017 Elsevier B.V. All rights reserved.

  14. [Speed of ocular saccades in Huntington disease. Prospective study].

    Science.gov (United States)

    García Ruiz, P J; Cenjor, C; Ulmer, E; Hernández, J; Cantarero, S; Fanjul, S; García de Yébenes, J

    2001-02-01

    Oculomotor abnormalities, especially slow saccades, have long been recognized in Huntington's disease (HD). To study prospectively horizontal saccade velocity by videonystagmography in 21 patients with genetically confirmed HD. The study included a baseline analysis and a second evaluation after 18.8 +/- 7.1 months. We included a control group of 15 subjects. HD group exhibited decreased saccade velocity when compared with that from a control group (for predictive and unpredictive target). HD patients showed decreased saccade velocity with the passage of time (for predictive target, p < 0.01). Finally we found statistical significant correlation between saccade velocity and triplet length. The measurement of saccade velocity might be an objective method to study the natural evolution of HD, and thus evaluate the effectiveness of future therapies.

  15. Brain atrophy in Huntington's disease: A CT-scan study

    International Nuclear Information System (INIS)

    Starkstein, S.E.; Folstein, S.E.; Brandt, J.; McDonnell, A.; Folstein, M.

    1989-01-01

    CT-scan measurements of cortical and subcortical atrophy were carried out in 34 patients with Huntington's disease (HD). While a significant correlation was observed between parameters of subcortical atrophy (bicaudate ratio, bifrontal ratio and third ventricular ratio) and duration of the disease, there was no significant correlation between these parameters and age. On the other hand, measurements of cortical atrophy (frontal fissure ratio and cortical sulci ratio) correlated significantly with age but not with duration of the disease. When a group of 24 HD patients were compared on CT-scan measurements with a group of 24 age-matched normal controls, significant differences were obtained for all the variables examined, but the bicaudate ratio showed the highest sensitivity and specificity. Even mildly affected patients, with duration of motor symptoms less than 3 years had higher bicaudate ratios than age-matched controls. (orig.)

  16. Nucleic Acid-Based Therapy Approaches for Huntington's Disease

    Directory of Open Access Journals (Sweden)

    Tatyana Vagner

    2012-01-01

    Full Text Available Huntington's disease (HD is caused by a dominant mutation that results in an unstable expansion of a CAG repeat in the huntingtin gene leading to a toxic gain of function in huntingtin protein which causes massive neurodegeneration mainly in the striatum and clinical symptoms associated with the disease. Since the mutation has multiple effects in the cell and the precise mechanism of the disease remains to be elucidated, gene therapy approaches have been developed that intervene in different aspects of the condition. These approaches include increasing expression of growth factors, decreasing levels of mutant huntingtin, and restoring cell metabolism and transcriptional balance. The aim of this paper is to outline the nucleic acid-based therapeutic strategies that have been tested to date.

  17. Reduced gluconeogenesis and lactate clearance in Huntington's disease

    DEFF Research Database (Denmark)

    Josefsen, Knud; Nielsen, Signe M B; Campos, André

    2010-01-01

    We studied systemic and brain glucose and lactate metabolism in Huntington's disease (HD) patients in response to ergometer cycling. Following termination of exercise, blood glucose increased abruptly in control subjects, but no peak was seen in any of the HD patients (2.0 ± 0.5 vs. 0.0 ± 0.2mM, P...... HD mouse model R6/2 following a lactate challenge, combined with reduced phosphoenolpyruvate carboxykinase and increased pyruvate kinase activity in the mouse liver suggest a reduced capacity...... for gluconeogenesis in HD, possibly contributing to the clinical symptoms of HD. We propose that blood glucose concentration in the recovery from exercise can be applied as a liver function test in HD patients....

  18. Exploring Genetic Factors Involved in Huntington Disease Age of Onset

    DEFF Research Database (Denmark)

    Valcárcel-Ocete, Leire; Alkorta-Aranburu, Gorka; Iriondo, Mikel

    2015-01-01

    age (motor AO or mAO). Multiple linear regression analyses were performed between genetic variation within 20 candidate genes and eAO or mAO, using DNA and clinical information of 253 HD patients from REGISTRY project. Gene expression analyses were carried out by RT-qPCR with an independent sample......Age of onset (AO) of Huntington disease (HD) is mainly determined by the length of the CAG repeat expansion (CAGexp) in exon 1 of the HTT gene. Additional genetic variation has been suggested to contribute to AO, although the mechanism by which it could affect AO is presently unknown. The aim...... of this study is to explore the contribution of candidate genetic factors to HD AO in order to gain insight into the pathogenic mechanisms underlying this disorder. For that purpose, two AO definitions were used: the earliest age with unequivocal signs of HD (earliest AO or eAO), and the first motor symptoms...

  19. Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey.

    Science.gov (United States)

    Bombard, Yvonne; Veenstra, Gerry; Friedman, Jan M; Creighton, Susan; Currie, Lauren; Paulsen, Jane S; Bottorff, Joan L; Hayden, Michael R

    2009-06-09

    To assess the nature and prevalence of genetic discrimination experienced by people at risk for Huntington's disease who had undergone genetic testing or remained untested. Cross sectional, self reported survey. Seven genetics and movement disorders clinics servicing rural and urban communities in Canada. 233 genetically tested and untested asymptomatic people at risk for Huntington's disease (response rate 80%): 167 underwent testing (83 had the Huntington's disease mutation, 84 did not) and 66 chose not to be tested. Self reported experiences of genetic discrimination and related psychological distress based on family history or genetic test results. Discrimination was reported by 93 respondents (39.9%). Reported experiences occurred most often in insurance (29.2%), family (15.5%), and social (12.4%) settings. There were few reports of discrimination in employment (6.9%), health care (8.6%), or public sector settings (3.9%). Although respondents who were aware that they carried the Huntington's disease mutation reported the highest levels of discrimination, participation in genetic testing was not associated with increased levels of genetic discrimination. Family history of Huntington's disease, rather than the result of genetic testing, was the main reason given for experiences of genetic discrimination. Psychological distress was associated with genetic discrimination (PGenetic discrimination was commonly reported by people at risk for Huntington's disease and was a source of psychological distress. Family history, and not genetic testing, was the major reason for genetic discrimination.

  20. The Addenbrooke's Cognitive Examination-Revised accurately detects cognitive decline in Huntington's disease.

    Science.gov (United States)

    Begeti, Faye; Tan, Adrian Y K; Cummins, Gemma A; Collins, Lucy M; Guzman, Natalie Valle; Mason, Sarah L; Barker, Roger A

    2013-11-01

    Cognitive features, which begin before manifestation of the motor features, are an integral part of Huntington's disease and profoundly affect quality of life. A number of neuropsychological batteries have been used to assess this aspect of the condition, many of which are difficult to administer and time consuming, especially in advanced disease. We, therefore, investigated a simple and practical way to monitor cognition using the Addenbrooke's Cognitive Examination-Revised (ACE-R) in 126 manifest Huntington's disease patients, 28 premanifest gene carriers and 21 controls. Using this test, we demonstrated a selective decrease in phonemic, but not semantic, fluency in premanifest participants Cognitive decline in manifest Huntington's disease varied according to disease severity with extensive cognitive decline observed in early-stage Huntington's disease patients, indicating that this would be an optimal stage for interventions designed to halt cognitive decline, and lesser changes in the advanced cases. We next examined cognitive performance in patients prescribed antidopaminergic drugs as these drugs are known to decrease cognition when administered to healthy volunteers. We paradoxically found that these drugs may be beneficial, as early-stage Huntington's disease participants in receipt of them had improved attention and Mini-Mental State Examination scores. In conclusion, this is the first study to test the usefulness of the ACE-R in a Huntington's disease population and demonstrates that this is a brief, inexpensive and practical way to measure global cognitive performance in clinical practice with potential use in clinical trials.

  1. Orphan drugs in development for Huntington's disease: challenges and progress

    Directory of Open Access Journals (Sweden)

    Burgunder JM

    2015-02-01

    advanced strategies to develop novel treatments in Huntington's disease are examined. Keywords: Huntington's disease, symptomatic treatment, disease-modifying therapy

  2. Altered brain mechanisms of emotion processing in pre-manifest Huntington's disease.

    Science.gov (United States)

    Novak, Marianne J U; Warren, Jason D; Henley, Susie M D; Draganski, Bogdan; Frackowiak, Richard S; Tabrizi, Sarah J

    2012-04-01

    Huntington's disease is an inherited neurodegenerative disease that causes motor, cognitive and psychiatric impairment, including an early decline in ability to recognize emotional states in others. The pathophysiology underlying the earliest manifestations of the disease is not fully understood; the objective of our study was to clarify this. We used functional magnetic resonance imaging to investigate changes in brain mechanisms of emotion recognition in pre-manifest carriers of the abnormal Huntington's disease gene (subjects with pre-manifest Huntington's disease): 16 subjects with pre-manifest Huntington's disease and 14 control subjects underwent 1.5 tesla magnetic resonance scanning while viewing pictures of facial expressions from the Ekman and Friesen series. Disgust, anger and happiness were chosen as emotions of interest. Disgust is the emotion in which recognition deficits have most commonly been detected in Huntington's disease; anger is the emotion in which impaired recognition was detected in the largest behavioural study of emotion recognition in pre-manifest Huntington's disease to date; and happiness is a positive emotion to contrast with disgust and anger. Ekman facial expressions were also used to quantify emotion recognition accuracy outside the scanner and structural magnetic resonance imaging with voxel-based morphometry was used to assess the relationship between emotion recognition accuracy and regional grey matter volume. Emotion processing in pre-manifest Huntington's disease was associated with reduced neural activity for all three emotions in partially separable functional networks. Furthermore, the Huntington's disease-associated modulation of disgust and happiness processing was negatively correlated with genetic markers of pre-manifest disease progression in distributed, largely extrastriatal networks. The modulated disgust network included insulae, cingulate cortices, pre- and postcentral gyri, precunei, cunei, bilateral putamena

  3. Inherently Undesirable: American Identity and the Role of Negative Eugenics in the Education of Visually Impaired and Blind Students in Ohio, 1870-1930

    Science.gov (United States)

    Free, Jennifer L.

    2012-01-01

    To date, studies of eugenics artificially confine their focus to the movement's application to race, socio-economic status, and the forced sterilization of the so-called feebleminded. However, the segregationist aspect of the eugenics design in the United States brought with it damaging policies toward individuals with physical and mental…

  4. Eugenics and migration: a case study of Salvation Army literature about Canada and Britain, c.1890-1921.

    Science.gov (United States)

    Baker, Graham J

    2014-01-01

    The eugenics movement attracted a wide range of supporters. This article explores this theme with relation to literature about the charitable work of the Salvation Army in Britain and Canada c.1890-1921, with a focus upon the emigration scheme outlined in William Booth's book In Darkest England and the Way Out. These writings indicate the widespread dispersal of eugenic ideology, and demonstrate the flexibility with which these theories were interpreted in this period. It will be shown that the Salvation Army adopted elements of both hereditarian and environmentalist views regarding racial health. These arguments were unified by the claim that the work of the organization made a worthy contribution to public health, both in the present and in the future. This case study sheds new light upon the history of a prominent evangelical Christian organization and upon the development of the international eugenics movement.

  5. Racial science in social context: John R. Baker on eugenics, race, and the public role of the scientist.

    Science.gov (United States)

    Kenny, Michael G

    2004-09-01

    In 1974 a British biologist, John Randal Baker (1900-1984), published a large and controversial book simply entitled Race that reiterated persistent eugenicist themes concerning the relation between race, intelligence, and progress. The history of Baker's book is a case study in the politics of scientific publishing, and his ideas influenced scholars associated with later works such as The Bell Curve. Baker, a student of Julian Huxley, was a longtime participant in the British eugenics movement and opponent of what he took to be a facile belief in human equality. In 1942, together with Michael Polanyi, he founded the Society for Freedom in Science to oppose those who advocated the central planning of scientific research. Baker's eugenics, political activities, and views on race express an elitist individualism, associated with the conservative wing of the eugenics movement, that this paper explores in the context of his career as a whole.

  6. Colombia en el contexto eugenésico latinoamericano 1900-1950

    Directory of Open Access Journals (Sweden)

    Juan Vianey Tovar Mosquera

    2016-01-01

    Full Text Available Introducción. La Eugenesia es un acontecimiento histórico que logró mover, una vez más, los fundamentos éticos tradicionales de la humanidad, cuestionando nuestra concepción de lo humano, haciendo de la diferencia, la debilidad o la enfermad una amenaza tangible urgente de normalizar o exterminar. Objetivo. Estudiar la forma como se desarrolló el movimiento eugenésico en Latinoamérica, en países como Argentina, Brasil, Colombia, Cuba, Chile, México y Perú. Materiales y métodos. Artículo de revisión de corte histórico; se seleccionó bibliografía que permitiera 1 brindar acercamiento al origen y principios de la Eugenesia; 2 investigaciones y artículos publicados en los países en mención que dan cuenta del desarrollo del movimiento eugenésico y de las políticas e instituciones con ocasión del mismo; 3 documentos históricos de intelectuales, políticos y educadores colombianos de la primera mitad del siglo XX para evaluar su adhesión al darwinismo social y al paradigma degeneracionista; 4 revisión de la legislación de la primera mitad del siglo XX en Colombia para analizar la materialización de principios eugenésicos y finalmente 5 se abordaron documentos que permiten consolidar una reflexión en torno a los graves problemas éticos y sociales que implicó la Eugenesia como un paradigma determinista biológica y socialmente. Resultados y discusión. Se evidencia que el movimiento eugenésico permeó el contexto latinoamericano definiendo, en la primera mitad del siglo XX, la política pública de los diferentes estados en materia educativa, médica, económica y migratoria, entre otras; generando graves problemas de estigmatización racial y moral.

  7. "Democracy was never intended for degenerates": Alberta's flirtation with eugenics comes back to haunt it.

    OpenAIRE

    Cairney, R

    1996-01-01

    An Alberta woman recently won a lawsuit against the government of Alberta for wrongful sterilization that took place when she was a 14-year-old ward at the Provincial Training School for Mental Defectives. It was the first time the province has been held accountable for actions taken under the Sexual Sterilization Act, a 1927 law that promoted the theory of eugenics and led to the sterilization of more than 2800 people. It has since been repealed. A physician who served on the province's Euge...

  8. The reception of Eugen Bleuler in British psychiatry, 1892-1954.

    LENUS (Irish Health Repository)

    Dalzell, Thomas

    2012-02-01

    This article draws on over 60 years of British medical journals and psychiatry textbooks to indicate the chronological stages of the reception of Eugen Bleuler in British psychiatry. Bleuler was already well known in Britain before his schizophrenia book appeared, with the journals containing numerous references, mainly positive, to his work. The psychiatry textbooks, however, were slower to integrate his contribution. This paper argues that this was not due to Bleuler\\'s placing Freud on a par with Kraepelin, but because of the early negative reaction to Kraepelin\\'s dementia praecox concept, despite Bleuler\\'s wider and less ominous conception of the illness.

  9. Eugene P. Wigner's Visionary Contributions to Generations-I through IV Fission Reactors

    Science.gov (United States)

    Carré, Frank

    2014-09-01

    Among Europe's greatest scientists who fled to Britain and America in the 1930s, Eugene P. Wigner made instrumental advances in reactor physics, reactor design and technology, and spent nuclear fuel processing for both purposes of developing atomic weapons during world-war II and nuclear power afterwards. Wigner who had training in chemical engineering and self-education in physics first gained recognition for his remarkable articles and books on applications of Group theory to Quantum mechanics, Solid state physics and other topics that opened new branches of Physics.

  10. Eugene P. Wigner’s Visionary Contributions to Generations-I through IV Fission Reactors

    Directory of Open Access Journals (Sweden)

    Carré Frank

    2014-01-01

    Full Text Available Among Europe’s greatest scientists who fled to Britain and America in the 1930s, Eugene P. Wigner made instrumental advances in reactor physics, reactor design and technology, and spent nuclear fuel processing for both purposes of developing atomic weapons during world-war II and nuclear power afterwards. Wigner who had training in chemical engineering and self-education in physics first gained recognition for his remarkable articles and books on applications of Group theory to Quantum mechanics, Solid state physics and other topics that opened new branches of Physics.

  11. Contraception or eugenics? Sterilization and "mental retardation" in the 1970s and 1980s.

    Science.gov (United States)

    Ladd-Taylor, Molly

    2014-01-01

    Nonconsensual sterilization is usually seen as the by-product of a classist and racist society; disability is ignored. This article examines the 1973 sterilization of two young black girls from Alabama and other precedent-setting court cases involving the sterilization of "mentally retarded" white women to make disability more central to the historical analysis of sterilization. It analyzes the concept of mental retardation and the appeal of a surgical solution to birth control, assesses judicial deliberations over the "right to choose" contraceptive sterilization when the capacity to consent is in doubt, and reflects on the shadow of eugenics that hung over the sterilization debate in the 1970s and 1980s.

  12. Colombia en el contexto eugenésico latinoamericano 1900-1950

    OpenAIRE

    Juan Vianey Tovar Mosquera

    2016-01-01

    Introducción. La Eugenesia es un acontecimiento histórico que logró mover, una vez más, los fundamentos éticos tradicionales de la humanidad, cuestionando nuestra concepción de lo humano, haciendo de la diferencia, la debilidad o la enfermad una amenaza tangible urgente de normalizar o exterminar. Objetivo. Estudiar la forma como se desarrolló el movimiento eugenésico en Latinoamérica, en países como Argentina, Brasil, Colombia, Cuba, Chile, México y Perú. Materiales y métodos. Artículo de re...

  13. From the 'Village of a Thousand Souls' to 'Race Crossing in Jamaica': Arnold Gesell, eugenics and child development.

    Science.gov (United States)

    Weizmann, Fredric

    2010-01-01

    Perhaps best known for providing age-related norms in early development, norms that are still used as a basis for measures of developmental maturity, Arnold Gesell was a key figure in developmental psychology from the 1920s through the 1950s. After examining Gesell's reputation and status in the field, we explore Gesell's changing relationship to eugenics, both in terms of Gesell's often contradictory attitudes about the role of hereditary and environmental influences in development, and in terms of the broader relationship between the eugenics movement and science.

  14. Huntington Disease - principles and practice of nutritional management.

    Science.gov (United States)

    Zukiewicz-Sobczak, Wioletta; Król, Renata; Wróblewska, Paula; Piątek, Jacek; Gibas-Dorna, Magdalena

    2014-01-01

    Huntington disease (HD) is a degenerative brain disease clinically manifested by the characteristic triad: physical symptoms including involuntary movements and poor coordination, cognitive changes with less ability to organize routine tasks, and some emotional and behavioral disturbances. For patients with HD, feeding is one of the problems they have to face. People with HD often have lower than average body weight and struggle with malnutrition. As a part of therapy, good nutrition is an intervention maintaining health and functional ability for maximally prolonged time. In the early stages of HD, small amounts of blenderized foods given orally are recommended. In more advanced stages, enteral nutrition is essential using gastric, or jejunal tubes for short term. Most severe cases require gastrostomy or gastrojejunostomy. Although enteral feeding is well tolerated by most of the patients, a number of complications may occur, including damage to the nose, pharynx, or esophagus, aspiration pneumonia, sinusitis, metabolic imbalances due to improper nutrient and fluid supply, adverse effects affecting gastrointestinal system, and refeeding syndrome. Copyright © 2014 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

  15. The story of George Huntington and his disease

    Directory of Open Access Journals (Sweden)

    Kalyan B Bhattacharyya

    2016-01-01

    Full Text Available George Huntington described some families with choreiform movements in 1872 in the United States of America and since then many such families have been described in other parts of the world and works on the genetics of the disease have brought new vistas in the understanding of the disease. In 1958, Americo Negrette, a young Venezuelan physician observed similar subjects in the vicinity of Lake Maracaibo which was presented by his co-worker, Ramon Avilla Giron at New York in 1972 when United States of America had been commemorating the centenary year of Huntington′s disease. Nancy Wexler, a psychoanalyst, whose mother had been suffering from the disease attended the meeting and organized a research team to Venezuela and they systematically studied more than 18,000 individuals in order to work out a common pedigree. They identified the genetic locus of the disease in the short arm of chromosome 4 and observed that it was a trinucleotide repeat disorder.

  16. Bradykinesia in Huntington's disease. A prospective, follow-up study.

    Science.gov (United States)

    García Ruiz, Pedro J; Hernández, Jaime; Cantarero, Susana; Bartolomé, Manuel; Sánchez Bernardos, Vicenta; García de Yébenez, Justo

    2002-04-01

    Bradykinesia is a frequent finding in Huntington's disease (HD), but some aspects are presently unknown; including the natural evolution of bradykinesia over time and the correlation between bradykinesia and functional capacity. We studied the motor performance of 20 genetically confirmed patients with HD (age: 40+/-10.8 years; age at onset 33.6+/-11 years; total functional capacity (TFC): 9.57+/-3; UHDRS total motor scale: 31.4+/-13, triplet length (CAG)n: 46.7+/-4 triplets). These patients were studied in baseline conditions and after 18.7+/-6 months of follow-up. In addition, HD patients were compared with 20 age-matched normal controls. Motor study included the four CAPIT timed tests commonly used for Parkinson's disease: pronation-supination (PS), finger dexterity (FD), movement between two points (MTP) and walking test (WT). HD patients were significantly slower than controls in all motor tasks. A significant deterioration occurred over time in three of the four motor tasks (especially FD and WT). A significant correlation between timed tests and TFC score was found (for MTP, r: -0.845; p < 0,0001). In addition a significant correlation between timed tests and the UHDRDS total motor scale was also found (for MTP, r: 0.864; p < 0.0001). In conclusion, simple timed motor tests can detect a deterioration of motor activity over time in HD. Timed tests might be useful to follow the natural evolution of HD and to assess the efficacy of new therapies.

  17. Medical management of motor manifestations of Huntington disease.

    Science.gov (United States)

    McCusker, Elizabeth A; Loy, Clement T

    2017-01-01

    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. Treatment for other disease features may aggravate the motor disorder, e.g., increased swallowing difficulty associated with antipsychotic agents. Basic principles in deciding to institute a treatment are outlined as well as treatment of specific motor manifestations and movements. There is a paucity of evidence to support the treatments available for the motor disorder, with only one agent with class 1 evidence, tetrabenazine, for chorea. There are, however, treatments informed by expert opinion which reflect the management of a wider HD phenotype than that represented in clinical trials. Some treatments are based on evidence from use in other conditions. Medical management is usually undertaken later in the disease with concurrent nonmedical interventions after multidisciplinary assessments. Medication review with HD progression is essential. Copyright © 2017 Elsevier B.V. All rights reserved.

  18. Pitfalls in the detection of cholesterol in Huntington's disease models.

    Science.gov (United States)

    Marullo, Manuela; Valenza, Marta; Leoni, Valerio; Caccia, Claudio; Scarlatti, Chiara; De Mario, Agnese; Zuccato, Chiara; Di Donato, Stefano; Carafoli, Ernesto; Cattaneo, Elena

    2012-10-11

    Background Abnormalities in brain cholesterol homeostasis have been reported in Huntington's disease (HD), an adult-onset neurodegenerative disorder caused by an expansion in the number of CAG repeats in the huntingtin (HTT) gene. However, the results have been contradictory with respect to whether cholesterol levels increase or decrease in HD models. Biochemical and mass spectrometry methods show reduced levels of cholesterol precursors and cholesterol in HD cells and in the brains of several HD animal models. Abnormal brain cholesterol homeostasis was also inferred from studies in HD patients. In contrast, colorimetric and enzymatic methods indicate cholesterol accumulation in HD cells and tissues. Here we used several methods to investigate cholesterol levels in cultured cells in the presence or absence of mutant HTT protein. Results Colorimetric and enzymatic methods with low sensitivity gave variable results, whereas results from a sensitive analytical method, gas chromatography-mass spectrometry, were more reliable. Sample preparation, high cell density and cell clonality also influenced the detection of intracellular cholesterol. Conclusions Detection of cholesterol in HD samples by colorimetric and enzymatic assays should be supplemented by detection using more sensitive analytical methods. Care must be taken to prepare the sample appropriately. By evaluating lathosterol levels using isotopic dilution mass spectrometry, we confirmed reduced cholesterol biosynthesis in knock-in cells expressing the polyQ mutation in a constitutive or inducible manner. *Correspondence should be addressed to Elena Cattaneo: elena.cattaneo@unimi.it.

  19. Mitochondrial DNA levels in Huntington disease leukocytes and dermal fibroblasts.

    Science.gov (United States)

    Jędrak, Paulina; Krygier, Magdalena; Tońska, Katarzyna; Drozd, Małgorzata; Kaliszewska, Magdalena; Bartnik, Ewa; Sołtan, Witold; Sitek, Emilia J; Stanisławska-Sachadyn, Anna; Limon, Janusz; Sławek, Jarosław; Węgrzyn, Grzegorz; Barańska, Sylwia

    2017-08-01

    Huntington disease (HD) is an inherited neurodegenerative disorder caused by mutations in the huntingtin gene. Involvement of mitochondrial dysfunctions in, and especially influence of the level of mitochondrial DNA (mtDNA) on, development of this disease is unclear. Here, samples of blood from 84 HD patients and 79 controls, and dermal fibroblasts from 10 HD patients and 9 controls were analysed for mtDNA levels. Although the type of mitochondrial haplogroup had no influence on the mtDNA level, and there was no correlation between mtDNA level in leukocytes in HD patients and various parameters of HD severity, some considerable differences between HD patients and controls were identified. The average mtDNA/nDNA relative copy number was significantly higher in leukocytes, but lower in fibroblasts, of symptomatic HD patients relative to the control group. Moreover, HD women displayed higher mtDNA levels in leukocytes than HD men. Because this is the largest population analysed to date, these results might contribute to explanation of discrepancies between previously published studies concerning levels of mtDNA in cells of HD patients. We suggest that the size of the investigated population and type of cells from which DNA is isolated could significantly affect results of mtDNA copy number estimation in HD. Hence, these parameters should be taken into consideration in studies on mtDNA in HD, and perhaps also in other diseases where mitochondrial dysfunction occurs.

  20. Cognitive and behavioral changes in Huntington disease before diagnosis.

    Science.gov (United States)

    Paulsen, Jane S; Miller, Amanda C; Hayes, Terry; Shaw, Emily

    2017-01-01

    Phenotypic manifestations of Huntington disease (HD) can be detected at least 15 years prior to the time when a motor diagnosis is given. Advances in clinical care and future research will require consistent use of HD definitions and HD premanifest (prodromal) stages being used across clinics, sites, and countries. Cognitive and behavioral (psychiatric) changes in HD are summarized and implications for ongoing advancement in our knowledge of prodromal HD are suggested. The earliest detected cognitive changes are observed in the Symbol Digit Modalities Test, Stroop Interference, Stroop Color and Word Test-interference condition, and Trail Making Test. Cognitive changes in the middle and near motor diagnostic stages of prodromal HD involve nearly every cognitive test administered and the greatest changes over time (i.e., slopes) are found in those prodromal HD participants who are nearest to motor diagnosis. Psychiatric changes demonstrate significant worsening over time and remain elevated compared with healthy controls throughout the prodromal disease course. Psychiatric and behavior changes in prodromal HD are much lower than that obtained using cognitive assessment, although the psychiatric and behavioral changes represent symptoms most debilitating to independent capacity and wellness. Copyright © 2017 Elsevier B.V. All rights reserved.

  1. Controlled clinical trial of cannabidiol in Huntington's disease.

    Science.gov (United States)

    Consroe, P; Laguna, J; Allender, J; Snider, S; Stern, L; Sandyk, R; Kennedy, K; Schram, K

    1991-11-01

    Based on encouraging preliminary findings, cannabidiol (CBD), a major nonpsychotropic constituent of Cannabis, was evaluated for symptomatic efficacy and safety in 15 neuroleptic-free patients with Huntington's Disease (HD). The effects of oral CBD (10 mg/kg/day for 6 weeks) and placebo (sesame oil for 6 weeks) were ascertained weekly under a double-blind, randomized cross-over design. A comparison of the effects of CBD and placebo on chorea severity and other therapeutic outcome variables, and on a Cannabis side effect inventory, clinical lab tests and other safety outcome variables, indicated no significant (p greater than 0.05) or clinically important differences. Correspondingly, plasma levels of CBD were assayed by GC/MS, and the weekly levels (mean range of 5.9 to 11.2 ng/ml) did not differ significantly over the 6 weeks of CBD administration. In summary, CBD, at an average daily dose of about 700 mg/day for 6 weeks, was neither symptomatically effective nor toxic, relative to placebo, in neuroleptic-free patients with HD.

  2. Total recognition discriminability in Huntington's and Alzheimer's disease.

    Science.gov (United States)

    Graves, Lisa V; Holden, Heather M; Delano-Wood, Lisa; Bondi, Mark W; Woods, Steven Paul; Corey-Bloom, Jody; Salmon, David P; Delis, Dean C; Gilbert, Paul E

    2017-03-01

    Both the original and second editions of the California Verbal Learning Test (CVLT) provide an index of total recognition discriminability (TRD) but respectively utilize nonparametric and parametric formulas to compute the index. However, the degree to which population differences in TRD may vary across applications of these nonparametric and parametric formulas has not been explored. We evaluated individuals with Huntington's disease (HD), individuals with Alzheimer's disease (AD), healthy middle-aged adults, and healthy older adults who were administered the CVLT-II. Yes/no recognition memory indices were generated, including raw nonparametric TRD scores (as used in CVLT-I) and raw and standardized parametric TRD scores (as used in CVLT-II), as well as false positive (FP) rates. Overall, the patient groups had significantly lower TRD scores than their comparison groups. The application of nonparametric and parametric formulas resulted in comparable effect sizes for all group comparisons on raw TRD scores. Relative to the HD group, the AD group showed comparable standardized parametric TRD scores (despite lower raw nonparametric and parametric TRD scores), whereas the previous CVLT literature has shown that standardized TRD scores are lower in AD than in HD. Possible explanations for the similarity in standardized parametric TRD scores in the HD and AD groups in the present study are discussed, with an emphasis on the importance of evaluating TRD scores in the context of other indices such as FP rates in an effort to fully capture recognition memory function using the CVLT-II.

  3. Therapeutic approaches to preventing cell death in Huntington disease.

    Science.gov (United States)

    Kaplan, Anna; Stockwell, Brent R

    2012-12-01

    Neurodegenerative diseases affect the lives of millions of patients and their families. Due to the complexity of these diseases and our limited understanding of their pathogenesis, the design of therapeutic agents that can effectively treat these diseases has been challenging. Huntington disease (HD) is one of several neurological disorders with few therapeutic options. HD, like numerous other neurodegenerative diseases, involves extensive neuronal cell loss. One potential strategy to combat HD and other neurodegenerative disorders is to intervene in the execution of neuronal cell death. Inhibiting neuronal cell death pathways may slow the development of neurodegeneration. However, discovering small molecule inhibitors of neuronal cell death remains a significant challenge. Here, we review candidate therapeutic targets controlling cell death mechanisms that have been the focus of research in HD, as well as an emerging strategy that has been applied to developing small molecule inhibitors-fragment-based drug discovery (FBDD). FBDD has been successfully used in both industry and academia to identify selective and potent small molecule inhibitors, with a focus on challenging proteins that are not amenable to traditional high-throughput screening approaches. FBDD has been used to generate potent leads, pre-clinical candidates, and has led to the development of an FDA approved drug. This approach can be valuable for identifying modulators of cell-death-regulating proteins; such compounds may prove to be the key to halting the progression of HD and other neurodegenerative disorders. Copyright © 2012 Elsevier Ltd. All rights reserved.

  4. Predictive gene testing for Huntington disease and other neurodegenerative disorders.

    Science.gov (United States)

    Wedderburn, S; Panegyres, P K; Andrew, S; Goldblatt, J; Liebeck, T; McGrath, F; Wiltshire, M; Pestell, C; Lee, J; Beilby, J

    2013-12-01

    Controversies exist around predictive testing (PT) programmes in neurodegenerative disorders. This study sets out to answer the following questions relating to Huntington disease (HD) and other neurodegenerative disorders: differences between these patients in their PT journeys, why and when individuals withdraw from PT, and decision-making processes regarding reproductive genetic testing. A case series analysis of patients having PT from the multidisciplinary Western Australian centre for PT over the past 20 years was performed using internationally recognised guidelines for predictive gene testing in neurodegenerative disorders. Of 740 at-risk patients, 518 applied for PT: 466 at risk of HD, 52 at risk of other neurodegenerative disorders - spinocerebellar ataxias, hereditary prion disease and familial Alzheimer disease. Thirteen percent withdrew from PT - 80.32% of withdrawals occurred during counselling stages. Major withdrawal reasons related to timing in the patients' lives or unknown as the patient did not disclose the reason. Thirty-eight HD individuals had reproductive genetic testing: 34 initiated prenatal testing (of which eight withdrew from the process) and four initiated pre-implantation genetic diagnosis. There was no recorded or other evidence of major psychological reactions or suicides during PT. People withdrew from PT in relation to life stages and reasons that are unknown. Our findings emphasise the importance of: (i) adherence to internationally recommended guidelines for PT; (ii) the role of the multidisciplinary team in risk minimisation; and (iii) patient selection. © 2013 The Authors; Internal Medicine Journal © 2013 Royal Australasian College of Physicians.

  5. Constitutive upregulation of chaperone-mediated autophagy in Huntington's disease.

    Science.gov (United States)

    Koga, Hiroshi; Martinez-Vicente, Marta; Arias, Esperanza; Kaushik, Susmita; Sulzer, David; Cuervo, Ana Maria

    2011-12-14

    Autophagy contributes to the removal of prone-to-aggregate proteins, but in several instances these pathogenic proteins have been shown to interfere with autophagic activity. In the case of Huntington's disease (HD), a congenital neurodegenerative disorder resulting from mutation in the huntingtin protein, we have previously described that the mutant protein interferes with the ability of autophagic vacuoles to recognize cytosolic cargo. Growing evidence supports the existence of cross talk among autophagic pathways, suggesting the possibility of functional compensation when one of them is compromised. In this study, we have identified a compensatory upregulation of chaperone-mediated autophagy (CMA) in different cellular and mouse models of HD. Components of CMA, namely the lysosome-associated membrane protein type 2A (LAMP-2A) and lysosomal-hsc70, are markedly increased in HD models. The increase in LAMP-2A is achieved through both an increase in the stability of this protein at the lysosomal membrane and transcriptional upregulation of this splice variant of the lamp-2 gene. We propose that CMA activity increases in response to macroautophagic dysfunction in the early stages of HD, but that the efficiency of this compensatory mechanism may decrease with age and so contribute to cellular failure and the onset of pathological manifestations.

  6. Huntington's disease in Greece: the experience of 14 years.

    Science.gov (United States)

    Panas, M; Karadima, G; Vassos, E; Kalfakis, N; Kladi, A; Christodoulou, K; Vassilopoulos, D

    2011-12-01

    A large scale genetic and epidemiological study of Huntington's disease (HD) was carried out in Greece from January 1995 to December 2008. Diagnostic testing was carried out in 461 symptomatic individuals, while 256 were tested for presymptomatic purposes. The diagnosis of HD with a CAG expansion ≥ 36 was confirmed in 278 symptomatic individuals. The prevalence of HD in Greece was estimated at approximately 2.5 to 5.4:100,000, while the mean minimum incidence was estimated at 2.2 to 4.4 per million per year. The molecular diagnosis of HD was confirmed in the majority of patients (84.4%) sent for confirmation. The false-positive cases 15.6% were characterized by the absence of a family history of HD and the presence of an atypical clinical picture. The uptake of predictive testing for HD was 8.6%. A prenatal test was requested in six pregnancies. The findings of our study do not differ significantly from those of similar studies from other European countries despite the relative genetic isolation of Greece. Of interest is the identification of clusters of HD in Greece. The presence or absence of a family history of HD should be interpreted cautiously, during the diagnostic process. © 2010 John Wiley & Sons A/S.

  7. Plasma homovanillic acid and prolactin in Huntington's disease.

    Science.gov (United States)

    Markianos, Manolis; Panas, Marios; Kalfakis, Nikos; Vassilopoulos, Dimitrios

    2009-05-01

    Dopaminergic activity is expected to be altered in patients with Huntington's disease (HD) and be related to factors like duration and severity of illness or patients' specific symptomatology like dementia, depression, or psychotic features. We assessed plasma homovanillic acid (pHVA) and plasma prolactin (pPRL), two correlates of dopaminergic activity, in 116 subjects with CAG repeats expansion in the HD gene, 26 presymptomatic (18 females) and 90 with overt symptomatology (43 females). Patients were evaluated using the Unified HD Rating Scale and the Total Functional Capacity Scale. Presence of dementia, depression, and psychotic features were also assessed. The age range of the patients was 22-83 years, duration of illness from 0.5 to 27 years, and CAG repeat number from 34 to 66. A group of 60 age and sex matched healthy subjects served as control group. Plasma PRL in subjects at risk and in neuroleptic-free patients, evaluated separately for males and females, did not differ from controls. Plasma HVA levels did not differ from controls in the group of presymptomatic subjects, but were significantly higher in the patients group. This increase was positively associated mainly with severity of illness and functional capacity of the patients, and not with presence of depression or dementia. Plasma HVA levels may be proven to be a peripheral index of disease progression. Reducing dopaminergic activity may have not only symptomatic, but also neuroprotective effects in HD.

  8. School hygiene and eugenics: the role of physical education in regenerating the “brazilian race”

    Directory of Open Access Journals (Sweden)

    Karl M. Lorenz

    2012-10-01

    Full Text Available From 1870 to 1930, physicians, writers, anthropologists and educators discussed therelationship between education and the less-privileged segments of the Brazilianpopulation. Among ideas circulating in the late nineteenth century were precepts of SchoolHygiene, such as physical exercise could promote personal health and, in a broader sense,the total development of the child. In discussions of eugenic themes in the early decades ofthe twentieth century, Physical Education was further promoted as a corrective measure forthe negative effects of miscegenation; that is, the physical, intellectual and moral debilitiesof the poor and non-white segments of the Brazilian population. This paper examines thenature and effects of the school discipline Physical Education on the less-favored childrenof Brazil by first introducing its role in School Hygiene and then by focusing on itsextended role from the eugenic perspective. In this latter discussion, the racial ideas ofFernando de Azevedo regarding the regenerating effect of Physical Education on the“Brazilian Race” are explored.

  9. From eugenics to lysenkoism: the evolution of Stanisław Skowron.

    Science.gov (United States)

    Dejong-Lambert, William

    2009-01-01

    This article describes the relationship between Polish geneticist Stanisław Skowron's views on eugenics during the interwar period, his experiences in Nazi concentration camps during World War II, and his response to Trofim D. Lysenko's ban on genetic research in Soviet-allied states after 1948. Skowron was educated at the Jagiellonian University in Krakow and received funding from the Rockefeller Foundation to study in the United States, Italy, Denmark, and Great Britain from 1924 to 1926. His exposure to research being conducted outside of Poland made him an important figure in Polish genetics. During this time Skowron also began to believe that an understanding of biological principles of heredity could play an important role in improving Polish society and became a supporter of eugenics. In 1939 he was arrested along with other faculty members at the Jagiellonian and sent to Sachsenhausen and Dachau. In 1947 he published the first book updating Polish biologists on recent developments in genetics; however, after learning of the outcome of the 1948 session of the Lenin All-Union Academy of Agricultural Sciences in Moscow, Skowron emerged as on of the most vocal advocates for Michurinism. I argue that Skowron's conversion to Lysenkoism was motivated by more than fear or opportunism, and is better understood as the product of his need to rationalize his own support for a theory he could not possibly have believed was correct.

  10. Racial Metabolism: Eugenic Studies in Jamaica and Yucatán, between 1920 and 1940

    Directory of Open Access Journals (Sweden)

    Joel Vargas Domínguez

    2015-10-01

    Full Text Available Objective: this paper shows the configuration of research conducted by the Carnegie Institution of Washington (CIW, in Jamaica and Yucatan, about basal metabolism on the onset of the twen­tieth century. I argue that this physiological research, conducted outside the usual laboratory spaces, used and articulated eugenics and racialized notions about the bodies under examination.Content: from the standpoint of the history of science I have analyzed the publications, reports and correspondence of the members of the Carnegie Institution expeditions. Conclusions: I show that basal metabolism was a measure constructed and used in the first half of the twentieth cen­tury with a strong eugenic and racial bias. Francis G. Benedict, Charles B. Davenport and Morris Steggerda from the CIW conducted these expeditions not only from the medical but also from the anthropological standpoint, in order to answer the question whether there was a climatic or racial effect on the body of the subjects analyzed. The results of the research were incorporated to the formulas used to evaluate the nutritional status of populations, fact that might have con­sequences nowadays on the way we understand metabolic “normality”.

  11. Screening for mental illness: the merger of eugenics and the drug industry.

    Science.gov (United States)

    Sharav, Vera Hassner

    2005-01-01

    The implementation of a recommendation by the President's New Freedom Commission (NFC) to screen the entire United States population--children first--for presumed, undetected, mental illness is an ill-conceived policy destined for disastrous consequences. The "pseudoscientific" methods used to screen for mental and behavioral abnormalities are a legacy from the discredited ideology of eugenics. Both eugenics and psychiatry suffer from a common philosophical fallacy that undermines the validity of their theories and prescriptions. Both are wed to a faith-based ideological assumption that mental and behavioral manifestations are biologically determined, and are, therefore, ameliorated by biological interventions. NFC promoted the Texas Medication Algorithm Project (TMAP) as a "model" medication treatment plan. The impact of TMAP is evident in the skyrocketing increase in psychotropic drug prescriptions for children and adults, and in the disproportionate expenditure for psychotropic drugs. The New Freedom Commission's screening for mental illness initiative is, therefore, but the first step toward prescribing drugs. The escalating expenditure for psychotropic drugs since TMAP leaves little doubt about who the beneficiaries of TMAP are. Screening for mental illness will increase their use.

  12. Prince Eugene and Maria Theresa: Gender, History, and Memory in Hofmannsthal in the First World War

    Directory of Open Access Journals (Sweden)

    Wolfgang Nehring

    2007-01-01

    Full Text Available Hugo von Hofmannsthal was one of the Austrian poets and intellectuals who took an active part in the historical-political events of 1914. He expected from the war a new vitality of public life and an end of the cultural crisis. In his early years he had advocated closer bonds between poesy and life. Now he encountered a situation that gave him the chance to strengthen his ties with reality. He worried about the existence of Austria, in which he was rooted, and tried to conjure up the Hapsburg spirit of the past for his contemporaries and to explain Austria's national history and right to exist to a large public. My study discusses his essay on Prince Eugene and Maria Theresa in the context of collective memory (or cultural memory and propaganda. Is there really a collective memory? Was there a collective memory, in which the great commander and the empress lived on, or did the author wish to create this memory from history? Should his essays be considered war propaganda? Self-assertion of Austria opposite the German ally appeared almost equally important. The change in emphasis from Prince Eugene as the greatest Austrian to the peace-loving empress mirrors the events of the war. Both contribute to an Austrian anthropology, which for the author lived on beyond the end of the Empire.

  13. [Eugenic abortion could explain the lower infant mortality in Cuba compared to that in Chile].

    Science.gov (United States)

    Donoso S, Enrique; Carvajal C, Jorge A

    2012-08-01

    Cuba and Chile have the lower infant mortality rates of Latin America. Infant mortality rate in Cuba is similar to that of developed countries. Chilean infant mortality rate is slightly higher than that of Cuba. To investigate if the lower infant mortality rate in Cuba, compared to Chile, could be explained by eugenic abortion, considering that abortion is legal in Cuba but not in Chile. We compared total and congenital abnormalities related infant mortality in Cuba and Chile during 2008, based on vital statistics of both countries. In 2008, infant mortality rates in Chile were significantly higher than those of Cuba (7.8 vs. 4.7 per 1,000 live born respectively, odds ratio (OR) 1.67; 95% confidence intervals (Cl) 1.52-1.83). Congenital abnormalities accounted for 33.8 and 19.2% of infant deaths in Chile and Cuba, respectively. Discarding infant deaths related to congenital abnormalities, infant mortality rate continued to be higher in Chile than in Cuba (5.19 vs. 3.82 per 1000 live born respectively, OR 1.36; 95%CI 1.221.52). Considering that antenatal diagnosis is widely available in both countries, but abortion is legal in Cuba but not in Chile, we conclude that eugenic abortion may partially explain the lower infant mortality rate observed in Cuba compared to that observed in Chile.

  14. A 24-Hour Study of the Hypothalamo-Pituitary Axes in Huntington's Disease.

    Directory of Open Access Journals (Sweden)

    Eirini Kalliolia

    Full Text Available Huntington's disease is an inherited neurodegenerative disorder characterised by motor, cognitive and psychiatric disturbances. Patients exhibit other symptoms including sleep and mood disturbances, muscle atrophy and weight loss which may be linked to hypothalamic pathology and dysfunction of hypothalamo-pituitary axes.We studied neuroendocrine profiles of corticotropic, somatotropic and gonadotropic hypothalamo-pituitary axes hormones over a 24-hour period in controlled environment in 15 healthy controls, 14 premanifest and 13 stage II/III Huntington's disease subjects. We also quantified fasting levels of vasopressin, oestradiol, testosterone, dehydroepiandrosterone sulphate, thyroid stimulating hormone, free triiodothyronine, free total thyroxine, prolactin, adrenaline and noradrenaline. Somatotropic axis hormones, growth hormone releasing hormone, insulin-like growth factor-1 and insulin-like factor binding protein-3 were quantified at 06:00 (fasting, 15:00 and 23:00. A battery of clinical tests, including neurological rating and function scales were performed.24-hour concentrations of adrenocorticotropic hormone, cortisol, luteinizing hormone and follicle-stimulating hormone did not differ significantly between the Huntington's disease group and controls. Daytime growth hormone secretion was similar in control and Huntington's disease subjects. Stage II/III Huntington's disease subjects had lower concentration of post-sleep growth hormone pulse and higher insulin-like growth factor-1:growth hormone ratio which did not reach significance. In Huntington's disease subjects, baseline levels of hypothalamo-pituitary axis hormones measured did not significantly differ from those of healthy controls.The relatively small subject group means that the study may not detect subtle perturbations in hormone concentrations. A targeted study of the somatotropic axis in larger cohorts may be warranted. However, the lack of significant results despite many

  15. Music therapy in Huntington's disease: a protocol for a multi-center randomized controlled trial.

    Science.gov (United States)

    van Bruggen-Rufi, Monique; Vink, Annemieke; Achterberg, Wilco; Roos, Raymund

    2016-07-26

    Huntington's disease is a progressive, neurodegenerative disease with autosomal dominant inheritance, characterized by motor disturbances, cognitive decline and behavioral and psychological symptoms. Since there is no cure, all treatment is aimed at improving quality of life. Music therapy is a non-pharmacological intervention, aiming to improve the quality of life, but its use and efficacy in patients with Huntington's disease has hardly been studied. In this article, a protocol is described to study the effects of music therapy in comparison with a control intervention to improve quality of life through stimulating expressive and communicative skills. By targeting these skills we assume that the social-cognitive functioning will improve, leading to a reduction in behavioral problems, resulting in an overall improvement of the quality of life in patients with Huntington's disease. The study is designed as a multi-center single-blind randomised controlled intervention trial. Sixty patients will be randomised using centre-stratified block-permuted randomisation. Patients will be recruited from four long-term care facilities specialized in Huntington's disease-care in The Netherlands. The outcome measure to assess changes in expressive and communication skills is the Behaviour Observation Scale Huntington and changes in behavior will be assessed by the Problem Behaviour Assesment-short version and by the BOSH. Measurements take place at baseline, then 8, 16 (end of intervention) and 12 weeks after the last intervention (follow-up). This randomized controlled study will provide greater insight into the effectiveness of music therapy on activities of daily living, social-cognitive functioning and behavior problems by improving expressive and communication skills, thus leading to a better quality of life for patients with Huntington's disease. Netherlands Trial Register: NTR4904 , registration date Nov. 15, 2014.

  16. Characterisation of aggression in Huntington's disease: rates, types and antecedents in an inpatient rehabilitation setting.

    Science.gov (United States)

    Brown, Anahita; Sewell, Katherine; Fisher, Caroline A

    2017-10-01

    To systematically review aggression in an inpatient Huntington's cohort examining rates, types and antecedents. Although the prevalence of aggression in Huntington's disease is high, research into this problematic behaviour has been limited. Few studies have investigated the nature of aggressive behaviour in Huntington's disease or antecedents that contribute to its occurrence. A systematic, double-coded, electronic medical file audit. The electronic hospital medical records of 10 people with Huntington's disease admitted to a brain disorders unit were audited for a 90-day period using the Overt Aggression Scale-Modified for Neurorehabilitation framework, yielding 900 days of clinical data. Nine of 10 clients exhibited aggression during the audit period. Both verbal (37·1%) aggression and physical aggression were common (33·8%), along with episodes of mixed verbal and physical aggression (15·2%), while aggression to objects/furniture was less prevalent (5·5%). The most common antecedent was physical guidance with personal care, far exceeding any other documented antecedents, and acting as the most common trigger for four of the nine clients who exhibited aggression. For the remaining five clients, there was intraindividual heterogeneity in susceptibility to specific antecedents. In Huntington's sufferers at mid- to late stages following disease onset, particular care should be made with personal care assistance due to the propensity for these procedures to elicit an episode of aggression. However, given the degree of intraindividual heterogeneity in susceptibility to specific antecedents observed in the present study, individualised behaviour support plans and sensory modulation interventions may be the most useful in identifying triggers and managing aggressive episodes. Rates of aggression in Huntington's disease inpatients can be high. Knowledge of potential triggers, such as personal care, is important for nursing and care staff, so that attempts can be

  17. Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease

    DEFF Research Database (Denmark)

    Aziz, N A; Jurgens, C K; Landwehrmeyer, G B

    2009-01-01

    OBJECTIVE: Huntington disease (HD) is an autosomal dominant neurodegenerative disorder caused by a CAG repeat expansion in the HD gene (HTT). We aimed to assess whether interaction between CAG repeat sizes in the mutant and normal allele could affect disease severity and progression. METHODS: Using...... with less severe symptoms and pathology. CONCLUSIONS: Increasing CAG repeat size in normal HTT diminishes the association between mutant CAG repeat size and disease severity and progression in Huntington disease. The underlying mechanism may involve interaction of the polyglutamine domains of normal...

  18. Mental Symptoms in Huntington's Disease and a Possible Primary Aminergic Neuron Lesion

    Science.gov (United States)

    Mann, J. John; Stanley, Michael; Gershon, Samuel; Rossor, M.

    1980-12-01

    Monoamine oxidase activity was higher in the cerebral cortex and basal ganglia of patients dying from Huntington's disease than in controls. Enzyme kinetics and multiple substrate studies indicated that the increased activity was due to elevated concentrations of monoamine oxidase type B. Concentrations of homovanillic acid were increased in the cerebral cortex but not in the basal ganglia of brains of patients with Huntington's disease. These changes may represent a primary aminergic lesion that could underlie some of the mental symptoms of this disease.

  19. To what extent were ideas and beliefs about eugenics held in Nazi Germany shared in Britain and the United States prior to the second world war?

    Science.gov (United States)

    Wittmann, Emily

    2004-06-01

    The term eugenics was first coined by Darwin's cousin, Francis Galton, in 1883. The eugenic movement gained public popularity across Europe and North America at the end of the Victorian era, fuelled by the concept of 'social Darwinism' and public fear of a decline in the number of ideal citizens. The origins of eugenic legislation can be found in the USA's immigration acts of the early 1880's. Indiana was the first state to pass sterilisation laws, in 1907. The laws that followed were used as templates by the Nazis, thirty years later. In Britain the Wood Committee (1924) and the Brock Committee (1931) both put pressure on parliament to introduce eugenic laws but were defeated. The anti-eugenics movement was stronger than in other protestant European countries and eugenics fell out of favour as the 1930's progressed. In the USA however, support remained strong, leading one activist to comment in 1934, 'The Germans are beating us at our own game'. There appears to have been little emphasis on eugenics in the Weimar Parliament, but the Nazi's legislation, on coming to power in 1933, surpassed anything conceived on either side of the Atlantic at the outbreak of war in 1939.

  20. Eugene O'Neill "Pikk päevatee kaob öösse" / Ellu Eik ; interv. Ene Paaver

    Index Scriptorium Estoniae

    Eik, Ellu

    2008-01-01

    Seoses Eesti Draamateatri suvelavastusega "Pikk päevatee kaob öösse" (autor Eugene O'Neill ja lavastaja Merle Karusoo) räägib Lääne-Tallinna Keskhaigla Sõltuvusravikeskuse psühhiaater Ellu Eik sõltuvuse tagamaadest ja mõjudest

  1. 76 FR 33341 - Notice of Intent to prepare a Resource Management Plan for the West Eugene Wetlands Planning Area...

    Science.gov (United States)

    2011-06-08

    ... DEPARTMENT OF THE INTERIOR Bureau of Land Management [LLORE00000 L63500000.DO0000.LXSS021H0000.HAG11-0203] Notice of Intent to prepare a Resource Management Plan for the West Eugene Wetlands Planning... Management, Interior. ACTION: Notice of Intent. SUMMARY: In compliance with the National Environmental Policy...

  2. Proceedings of the National Silviculture Workshop: Economics Of Silvicultural Investments; Eugene, OR; May 16-20, 1983

    Science.gov (United States)

    Clark Row; Charles Palmer; Robert M. Randall; Tom Ortman; James P. Merzenich; Gary Manning; George Howe; Jim McDivitt; Chris Hansen; Willard R. Fey; Vernon L. Robinson; K. E. Sleavin; K. N. Johnson; Roger D. Fight; L. O. (Pete) Stanger; Lee Medema; Christopher D. Risbrudt; Richard W. Guldin; Richard Greenhalgh; Mike Skinner; John Fiske; Thomas J. Mills; John H. Beuter

    1983-01-01

    The 1983 Silviculture Workshop was held in Eugene, Oregon, and the Willamette National Forest. The purpose of the workshop was to review and discuss the requirements by laws, regulations, and Forest Service policy of the need for and uses of economic analyses in silvicultural program planning and development.

  3. 75 FR 34049 - FM Table of Allotments (The Dalles, Tualatin, Eugene, Albany, Lebanon, Paisley, and Diamond Lake...

    Science.gov (United States)

    2010-06-16

    ... FEDERAL COMMUNICATIONS COMMISSION 47 CFR Part 73 [DA 10-786; MB Docket No. 05-10; RM-11279] FM Table of Allotments (The Dalles, Tualatin, Eugene, Albany, Lebanon, Paisley, and Diamond Lake, Oregon... 279C, Lebanon, Oregon, Bicoastal Media Licenses IV, LLC (``Bicoastal''), licensee of Station KACI-FM...

  4. Preserving Precious Instruments in Mathematics History: The Educational Museum of Teachers College and David Eugene Smith's Collection

    Science.gov (United States)

    Murray, Diane R.

    2011-01-01

    A history is given of the Educational Museum of Teachers College, which began in 1886, and David Eugene Smith's extensive collection of mathematical tools used in the Museum's exhibits is discussed. Historic mathematical instruments including, the astrolabe, abacus and counting rods, and the slide rule are examined. The author uses digitized…

  5. Tremor in neurodegenerative ataxias, Huntington disease and tic disorder.

    Science.gov (United States)

    Rudzińska, M; Krawczyk, M; Wójcik-Pędziwiatr, M; Szczudlik, A; Tomaszewski, T

    2013-01-01

    Tremor is the most prevalent movement disorder, defined as rhythmic oscillations of a body part, caused by alternating or synchronic contractions of agonistic or antagonistic muscles. The aim of the study was to assess prevalence and to characterize parameters of tremor accompanying de-generative ataxias, Huntington disease (HD) and tic disorders in comparison with a control group. Forty-three patients with degenerative ataxias, 28 with HD and 26 with tic disorders together with 51 healthy controls were included in the study. For each participant, clinical and instrumental assessment (accelerometer, electromyography [EMG], graphic tablet) of hand tremor was performed. Frequency and severity of tremor were assessed in three positions: at rest (rest tremor), with hands extended (postural tremor), during the 'finger-to-nose' test and during Archimedes spiral drawing (kinetic tremor). Based on the mass load test, the type of tremor was determined as essential tremor type or enhanced physiological tremor type. The incidence of tremor in the accelerometry in patients with degenerative ataxia (50%) significantly differs from controls (10%) (p = 0.001). The dominant tremor was postural, low-intense, with 7-Hz frequency, essential tremor (23%) or other tremor type (23%), while enhanced physiological tremor was the least frequent (2%). Tremor in patients with HD and tic disorders was found in 10% and 20% of patients, respectively, similarly to the control group. Tremor was mild, postural and of essential tremor type, less frequently of enhanced physiological tremor type. No correlation between severity of tremor and severity of disease was found. The prevalence of tremor is considerably higher among patients with degenerative ataxias compared with HD, tic disorder and the control group. The most common type of tremor accompanying ataxias, HD and tic disorders is essential tremor type.

  6. Predictors of Workplace Disability in a Premanifest Huntington's Disease Cohort.

    Science.gov (United States)

    Goh, Anita M Y; You, Emily; Perin, Stephanie; Clay, Fiona J; Loi, Samantha; Ellis, Kathryn; Chong, Terence; Ames, David; Lautenschlager, Nicola

    2018-01-01

    Huntington's disease (HD) is an inherited neurodegenerative disease involving motor, cognitive, and psychiatric/behavioral impairments that will eventually affect work role functioning. Few objective data exist regarding predictors of workplace disability in HD. The authors explored the predictors of work impairment and disability in a cross-sectional cohort of 656 employed, premanifest HD (preHD) individuals. In this cohort-the majority of whom were female, urban-dwelling, married/partnered, and working full-time, with minimal cognitive impairment, good function, minimal motor abnormality, and no indication of significant mental health issues-the number of participants who reported that they had missed work due to HD was low (2.4%). However, 12% of the study sample reported experiencing impairment while working due to preHD, 12.2% reported work-related activity impairment due to preHD, and 12.7% reported impairment in their overall work ability. Higher numbers of CAG repeats on the mutant allele and having more motor symptoms were associated with significantly higher odds of experiencing workplace impairment. Importantly, several modifiable factors were also found to predict workplace disability. Specifically, higher levels of anxiety symptoms were associated with significantly higher odds of experiencing workplace impairment. Good mental and physical health served as protective factors, where good physical health was associated with 6% lower odds of experiencing impairment or missing work time and good mental health was associated with of 10%-12% lower. The results provide important new knowledge for the development of future targeted intervention trials to support preHD individuals in maintaining their work roles as long as possible.

  7. Patterns of False Memory in Patients with Huntington's Disease.

    Science.gov (United States)

    Chen, I-Wen; Chen, Chiung-Mei; Wu, Yih-Ru; Hua, Mau-Sun

    2017-06-01

    Increased false memory recognition in patients with Huntington's disease (HD) has been widely reported; however, the underlying memory constructive processes remain unclear. The present study explored gist memory, item-specific memory, and monitoring ability in patients with HD. Twenty-five patients (including 13 patients with mild HD and 12 patients with moderate-to-severe HD) and 30 healthy comparison participants (HC) were recruited. We used the Deese-Roediger-McDermott (DRM) paradigm to investigate participants' false recognition patterns, along with neuropsychological tests to assess general cognitive function. Both mild and moderate-to-severe patients with HD showed significant executive functioning and episodic memory impairment. On the DRM tasks, both HD patient groups showed significantly impaired performance in tasks assessing unrelated false recognition and item-specific memory as compared to the HC group; moderate-to-severe patients performed more poorly than mild patients did. Only moderate-severe patients exhibited significantly poorer related false recognition index scores than HCs in the verbal DRM task; performance of HD patient groups was comparable to the HC group on the pictorial DRM task. It appears that diminished verbatim memory and monitoring ability are early signs of cognitive decline during the HD course. Conversely, gist memory is relatively robust, with only partial decline during advanced-stage HD. Our findings suggest that medial temporal lobe function is relatively preserved compared to that of frontal-related structures in early HD. Thus, gist-based memory rehabilitation programs might be beneficial for patients with HD. © The Author 2017. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  8. An electrophysiological analysis of altered cognitive functions in Huntington disease.

    Science.gov (United States)

    Münte, T F; Ridao-Alonso, M E; Preinfalk, J; Jung, A; Wieringa, B M; Matzke, M; Dengler, R; Johannes, S

    1997-09-01

    Neuropsychological deficits are a main feature of Huntington disease (HD) with previous data suggesting involvement of memory functions and visual processing. To increase the knowledge about cognitive malfunction in HD in the domains of visual processing and memory by the use of modern electrophysiological techniques (event-related potentials [ERPs]). A case-control design was used. Three ERP paradigms were used; a parallel visual search paradigm allowed for the simultaneous processing of a multi-element visual array in search of a target stimulus, while a serial search paradigm with varied numbers of distractor items necessitated a serial one by one scanning of the arrays. The third experiment was a word-recognition memory task. The measurements were obtained in a neurophysiological laboratory of a university hospital. Nine patients with HD and 9 control subjects matched for age, sex, and education were studied. Components of averaged ERPs were quantified by latency and amplitude measures and subjected to statistical analysis. Behavioral measures (search time, hit rate, and recognition accuracy) were assessed as well. The early visual components showed a significant latency shift (delay of about 50 milliseconds) in HD. In the search paradigms the P3 components differentiating target and standard stimuli were virtually absent in HD as was the ERP effect indexing word recognition. This was accompanied by a marked delay in search times and lower hit rates in the search tasks and a grossly reduced recognition accuracy in the memory task. The results suggest marked impairments of patients with HD in early visual sensory processing (early components). Deficits in visual search might be attributed to an impairment to deploy attentional resources across the visual field and/or an inability to control eye movements. The ERPs in the memory task differed grossly from similar data obtained by others in patients with Alzheimer disease, suggesting a different neural basis for

  9. Identification of extreme motor phenotypes in Huntington's disease.

    Science.gov (United States)

    Braisch, Ulrike; Hay, Birgit; Muche, Rainer; Rothenbacher, Dietrich; Landwehrmeyer, G Bernhard; Long, Jeffrey D; Orth, Michael

    2017-04-01

    The manifestation of motor signs in Huntington's disease (HD) has a well-known inverse relationship with HTT CAG repeat length, but the prediction is far from perfect. The probability of finding disease modifiers is enhanced in individuals with extreme HD phenotypes. We aimed to identify extreme HD motor phenotypes conditional on CAG and age, such as patients with very early or very late onset of motor manifestation. Retrospective data were available from 1,218 healthy controls and 9,743 HD participants with CAG repeats ≥40, and a total of about 30,000 visits. Boundaries (2.5% and 97.5% quantiles) for extreme motor phenotypes (UHDRS total motor score (TMS) and motor age-at-onset) were estimated using quantile regression for longitudinal data. More than 15% of HD participants had an extreme TMS phenotype for at least one visit. In contrast, only about 4% of participants were consistent TMS extremes at two or more visits. Data from healthy controls revealed an upper cut-off of 13 for the TMS representing the extreme of motor ratings for a normal aging population. In HD, boundaries of motor age-at-onset based on diagnostic confidence or derived from the TMS data cut-off in controls were similar. In summary, a UHDRS TMS of more than 13 in an individual carrying the HD mutation indicates a high likelihood of motor manifestations of HD irrespective of CAG repeat length or age. The identification of motor phenotype extremes can be useful in the search for disease modifiers, for example, genetic or environmental such as medication. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  10. Drosophila eye color mutants as therapeutic tools for Huntington disease.

    Science.gov (United States)

    Green, Edward W; Campesan, Susanna; Breda, Carlo; Sathyasaikumar, Korrapati V; Muchowski, Paul J; Schwarcz, Robert; Kyriacou, Charalambos P; Giorgini, Flaviano

    2012-01-01

    Huntington disease (HD) is a fatal inherited neurodegenerative disorder caused by a polyglutamine expansion in the huntingtin protein (htt). A pathological hallmark of the disease is the loss of a specific population of striatal neurons, and considerable attention has been paid to the role of the kynurenine pathway (KP) of tryptophan (TRP) degradation in this process. The KP contains three neuroactive metabolites: 3-hydroxykynurenine (3-HK), quinolinic acid (QUIN), and kynurenic acid (KYNA). 3-HK and QUIN are neurotoxic, and are increased in the brains of early stage HD patients, as well as in yeast and mouse models of HD. Conversely, KYNA is neuroprotective and has been shown to be decreased in HD patient brains. We recently used a Drosophila model of HD to measure the neuroprotective effect of genetic and pharmacological inhibition of kynurenine monoxygenase (KMO)-the enzyme catalyzing the formation of 3-HK at a pivotal branch point in the KP. We found that KMO inhibition in Drosophila robustly attenuated neurodegeneration, and that this neuroprotection was correlated with reduced levels of 3-HK relative to KYNA. Importantly, we showed that KP metabolites are causative in this process, as 3-HK and KYNA feeding experiments modulated neurodegeneration. We also found that genetic inhibition of the upstream KP enzyme tryptophan-2,3-dioxygenase (TDO) was neuroprotective in flies. Here, we extend these results by reporting that genetic impairment of KMO or TDO is protective against the eclosion defect in HD model fruit flies. Our results provide further support for the possibility of therapeutic KP interventions in HD.

  11. Brain imaging and cognitive dysfunctions in Huntington's disease

    Science.gov (United States)

    Montoya, Alonso; Price, Bruce H.; Menear, Matthew; Lepage, Martin

    2006-01-01

    Recent decades have seen tremendous growth in our understanding of the cognitive dysfunctions observed in Huntington's disease (HD). Advances in neuroimaging have contributed greatly to this growth. We reviewed the role that structural and functional neuroimaging techniques have played in elucidating the cerebral bases of the cognitive deficits associated with HD. We conducted a computer-based search using PubMed and PsycINFO databases to retrieve studies of patients with HD published between 1965 and December 2004 that reported measures on cognitive tasks and used neuroimaging techniques. Structural neuroimaging has provided important evidence of morphological brain changes in HD. Striatal and cortical atrophy are the most common findings, and they correlate with cognitive deficits in attention, working memory and executive functions. Functional studies have also demonstrated correlations between striatal dysfunction and cognitive performance. Striatal hypoperfusion and decreased glucose utilization correlate with executive dysfunction. Hypometabolism also occurs throughout the cerebral cortex and correlates with performance on recognition memory, language and perceptual tests. Measures of presynaptic and postsynaptic dopamine biochemistry have also correlated with measurements of episodic memory, speed of processing and executive functioning. Aided by the results of numerous neuroimaging studies, it is becoming increasingly clear that cognitive deficits in HD involve abnormal connectivity between the basal ganglia and cortical areas. In the future, neuroimaging techniques may shed the most light on the pathophysiology of HD by defining neurodegenerative disease phenotypes as a valuable tool for knowing when patients become “symptomatic,” having been in a gene-positive presymptomatic state, and as a biomarker in following the disease, thereby providing a prospect for improved patient care. PMID:16496032

  12. Progressive microstructural changes of the occipital cortex in Huntington's disease.

    Science.gov (United States)

    Odish, Omar F F; Reijntjes, Robert H A M; van den Bogaard, Simon J A; Roos, Raymund A C; Leemans, Alexander

    2018-02-28

    In this study we longitudinally investigated the rate of microstructural alterations in the occipital cortex in different stages of Huntington's disease (HD) by applying an automated atlas-based approach to diffusion MRI data. Twenty-two premanifest (preHD), 10 early manifest HD (early HD) and 24 healthy control subjects completed baseline and two year follow-up scans. The preHD group was stratified based on the predicted years to disease onset into a far (preHD-A) and near (preHD-B) to disease onset group. Clinical and behavioral measures were collected per assessment time point. An automated atlas-based DTI analysis approach was used to obtain the mean, axial and radial diffusivities of the occipital cortex. We found that the longitudinal rate of diffusivity change in the superior occipital gyrus (SOG), middle occipital gyrus (MOG), and inferior occipital gyrus (IOG) was significantly higher in early HD compared to both preHD and controls (all p's ≤ 0.005), which can be interpreted as an increased rate of microstructural degeneration. Furthermore, the change rate in the diffusivity of the MOG could significantly discriminate between preHD-B compared to preHD-A and the other groups (all p's ≤ 0.04). Finally, we found an inverse correlation between the Stroop Word Reading task and diffusivities in the SOG and MOG (all p's ≤ 0.01). These findings suggest that measures obtained from the occipital cortex can serve as sensitive longitudinal biomarkers for disease progression in preHD-B and early HD. These could in turn be used to assess potential effects of proposed disease modifying therapies.

  13. Late-onset Huntington's disease: diagnostic and prognostic considerations.

    Science.gov (United States)

    Koutsis, Georgios; Karadima, Georgia; Kladi, Athina; Panas, Marios

    2014-07-01

    To address diagnostic and prognostic issues in patients with late-onset Huntington's disease (HD). We analyzed a cohort of 41 late-onset (≥60 years) HD patients and compared them to 39 late-onset patients referred for HD testing that were negative for the HD-expansion and to 290 usual-onset (20-59 years) HD patients. Disease severity was assessed by the Total Functional Capacity Scale. Late-onset HD comprised 11.5% of our HD cohort. In total, 70.7% of late-onset HD patients had positive family history compared to 15.4% of late-onset expansion-negative patients (p < 0.001). Clinical features at onset or presentation could not usefully distinguish between late-onset expansion-positive and negative patients, excepting hemichorea, which was absent from the HD group (p = 0.024). Chorea was the first clinical feature in 53.7% and a presenting feature in 90.2% of late-onset HD. The mutation hit rate for late-onset patients was 51.3%, lower than in usual-onset patients (p = 0.04). Frequencies of chorea, cognitive impairment and psychiatric manifestations at onset or presentation were not significantly different between late-onset and usual-onset HD patients. Gait unsteadiness however was more common at presentation in late-onset HD (p = 0.007). Late-onset HD patients reached a severe stage of illness on average 2.8 years earlier than usual-onset HD patients (p = 0.046). A positive family history suggestive of HD, although absent in a third of patients, remains a helpful clue in diagnosing late-onset HD. Prognosis of late-onset HD in terms of Total Functional Capacity appears no better and shows a trend of being somewhat less favorable compared to usual-onset HD. Copyright © 2014 Elsevier Ltd. All rights reserved.

  14. Maltreatment of people with serious mental illness in the early 20th century: a focus on Nazi Germany and eugenics in America.

    Science.gov (United States)

    Fischer, Bernard A

    2012-12-01

    Prejudice and stigma against people with mental illness can be seen throughout history. The worst instance of this prejudice was connected to the rise of the eugenics movement in the early 20th century. Although the Nazi German T-4 program of killing people with mental illness was the most egregious culmination of this philosophy, the United States has its own dark eugenics history-nearing a slippery slope all too similar to that of the Nazis. Mental health care clinicians need to examine this period to honor the memory of the victims of eugenics and to guarantee that nothing like this will ever happen again.

  15. JUNCTOPHILIN 3 (JPH3) EXPANSION MUTATIONS CAUSING HUNTINGTON DISEASE LIKE 2 (HDL2) ARE COMMON IN SOUTH AFRICAN PATIENTS WITH AFRICAN ANCESTRY AND A HUNTINGTON DISEASE PHENOTYPE

    Science.gov (United States)

    Krause, A; Mitchell, CL; Essop, F; Tager, S; Temlett, J; Stevanin, G; Ross, CA; Rudnicki, DD; Margolis, RL

    2015-01-01

    Huntington disease (HD) is a progressive autosomal dominant neurodegenerative disorder, characterized by abnormal movements, cognitive decline and psychiatric symptoms, caused by a CAG repeat expansion in the huntingtin (HTT) gene on chromosome 4p. A CAG/CTG repeat expansion in the junctophilin-3 (JPH3) gene on chromosome 16q24.2 causes a Huntington disease-like phenotype (HDL2). All patients to date with HDL2 have some African ancestry. The present study aimed to characterize the genetic basis of the Huntington disease phenotype in South Africans and to investigate the possible origin of the JPH3 mutation. In a sample of unrelated South African individuals referred for diagnostic HD testing, 62% (106/171) of white patients compared to only 36% (47/130) of black patients had an expansion in HTT. However, 15% (20/130) of black South African patients and no white patients (0/171) had an expansion in JPH3, confirming the diagnosis of Huntington disease like 2 (HDL2). Individuals with HDL2 share many clinical features with individuals with HD and are clinically indistinguishable in many cases, although the average age of onset and diagnosis in HDL2 is 5 years later than HD and individual clinical features may be more prominent. HDL2 mutations contribute significantly to the HD phenotype in South Africans with African ancestry. JPH3 haplotype studies in 31 families, mainly from South Africa and North America, provide evidence for a founder mutation and support a common African origin for all HDL2 patients. Molecular testing in individuals with an HD phenotype and African ancestry should include testing routinely for JPH3 mutations. PMID:26079385

  16. Behavioral testing of minipigs transgenic for the Huntington gene-A three-year observational study

    Czech Academy of Sciences Publication Activity Database

    Schuldenzucker, V.; Schubert, R.; Muratori, L. M.; Freisfeld, F.; Rieke, L.; Matheis, T.; Schramke, S.; Motlík, Jan; Kemper, N.; Radespiel, U.; Reilmann, R.

    2017-01-01

    Roč. 12, č. 10 (2017), č. článku e0185970. E-ISSN 1932-6203 Institutional support: RVO:67985904 Keywords : Huntington´s disease * minipigs Subject RIV: EG - Zoology OBOR OECD: Behavioral sciences biology Impact factor: 2.806, year: 2016

  17. Motor, emotional and cognitive deficits in adult BACHD mice : A model for Huntington's disease

    NARCIS (Netherlands)

    Abada, Yah-se K.; Schreiber, Rudy; Ellenbroek, Bart

    2013-01-01

    Rationale: Huntington's disease (HD) is characterized by progressive motor dysfunction, emotional disturbances and cognitive deficits. It is a genetic disease caused by an elongation of the polyglutamine repeats in the huntingtin gene. Whereas HD is a complex disorder, previous studies in mice

  18. Vertraagde diagnose van de ziekte van Huntington in een psychiatrische setting

    NARCIS (Netherlands)

    Tak, L M; Sizoo, B; de Stegge, B M Aan; Adema, S; van Duijn, E; Kremer, B

    2017-01-01

    Huntington's disease (hd) is characterised by a triad of neuropsychiatric symptoms, motor disturbances and cognitive decline. If initial symptoms are of neuropsychiatric nature they maybe misinterpreted, which can lead to delayed diagnosis. Three examples of delayed hd diagnosis in a psychiatric

  19. CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

    DEFF Research Database (Denmark)

    Lee, J-M; Ramos, E M; Lee, J-H

    2012-01-01

    Age at onset of diagnostic motor manifestations in Huntington disease (HD) is strongly correlated with an expanded CAG trinucleotide repeat. The length of the normal CAG repeat allele has been reported also to influence age at onset, in interaction with the expanded allele. Due to profound...

  20. Striatal dopamine D2 receptors, metabolism, and volume in preclinical Huntington disease

    NARCIS (Netherlands)

    van Oostrom, JCH; Maguire, RP; Verschuuren-Bemelmans, CC; van der Duin, LV; Pruim, J; Roos, RAC; Leenders, KL

    2005-01-01

    Among 27 preclinical carriers of the Huntington disease mutation (PMC), the authors found normal striatal values for MRI volumetry in 88% and for fluorodesoxyglucose PET metabolic index in 67%. Raclopride PET binding potential (RAC-BP) was decreased in 50% and correlated with increases in the

  1. Hypocretin and melanin-concentrating hormone in patients with Huntington disease.

    NARCIS (Netherlands)

    Aziz, A.; Fronczek, R.; Maat-Schieman, M.L.; Unmehopa, U.A.; Roelandse, F.W.; Overeem, S.; Duinen, S.G. van; Lammers, G.J.; Swaab, D.F.; Roos, R.A.C.

    2008-01-01

    To evaluate whether hypocretin-1 (orexin-A) and melanin-concentrating hormone (MCH) neurotransmission are affected in patients with Huntington disease (HD), we immunohistochemically stained hypocretin and MCH neurons and estimated their total numbers in the lateral hypothalamus of both HD patients

  2. Functional Compensation of Motor Function in Pre-Symptomatic Huntington's Disease

    Science.gov (United States)

    Kloppel, Stefan; Draganski, Bogdan; Siebner, Hartwig R.; Tabrizi, Sarah J.; Weiller, Cornelius; Frackowiak, Richard S. J.

    2009-01-01

    Involuntary choreiform movements are a clinical hallmark of Huntington's disease. Studies in clinically affected patients suggest a shift of motor activations to parietal cortices in response to progressive neurodegeneration. Here, we studied pre-symptomatic gene carriers to examine the compensatory mechanisms that underlie the phenomenon of…

  3. 4p16.3 haplotype modifying age at onset of Huntington disease

    DEFF Research Database (Denmark)

    Nørremølle, A; Budtz-Jørgensen, E; Fenger, K

    2009-01-01

    Huntington disease (HD) is caused by an expanded CAG repeat sequence in the HD gene. Although the age at onset is correlated to the CAG repeat length, this correlation only explains approximately half of the variation in onset age. Less variation between siblings indicates that the variation is, ...

  4. The use of stem cells in regenerative medicine for Parkinson's and Huntington's Diseases.

    Science.gov (United States)

    Lescaudron, L; Naveilhan, P; Neveu, I

    2012-01-01

    Cell transplantation has been proposed as a means of replacing specific cell populations lost through neurodegenerative processes such as that seen in Parkinson's or Huntington's diseases. Improvement of the clinical symptoms has been observed in a number of Parkinson and Huntington's patients transplanted with freshly isolated fetal brain tissue but such restorative approach is greatly hampered by logistic and ethical concerns relative to the use of fetal tissue, in addition to potential side effects that remain to be controlled. In this context, stem cells that are capable of self-renewal and can differentiate into neurons, have received a great deal of interest, as demonstrated by the numerous studies based on the transplantation of neural stem/progenitor cells, embryonic stem cells or mesenchymal stem cells into animal models of Parkinson's or Huntington's diseases. More recently, the induction of pluripotent stem cells from somatic adult cells has raised a new hope for the treatment of neurodegenerative diseases. In the present article, we review the main experimental approaches to assess the efficiency of cell-based therapy for Parkinson's or Huntington's diseases, and discuss the recent advances in using stem cells to replace lost dopaminergic mesencephalic or striatal neurons. Characteristics of the different stem cells are extensively examined with a special attention to their ability of producing neurotrophic or immunosuppressive factors, as these may provide a favourable environment for brain tissue repair and long-term survival of transplanted cells in the central nervous system. Thus, stem cell therapy can be a valuable tool in regenerative medicine.

  5. Selected CSF biomarkers indicate no evidence of early neuroinflammation in Huntington disease

    DEFF Research Database (Denmark)

    Vinther-Jensen, Tua; Börnsen, Lars Svend; Budtz-Jorgensen, Esben

    2016-01-01

    Objective: To investigate CSF biomarkers of neuroinflammation and neurodegeneration in Huntington disease (HD) gene-expansion carriers compared to controls and to investigate these biomarkers in association with clinical HD rating scales and disease burden score. Methods: We collected CSF from 32...

  6. Beautiful Science: The Public and Private History of Astronomy at the Huntington Library

    Science.gov (United States)

    Lewis, Daniel

    2009-05-01

    The history of astronomy has a long tradition within research libraries. The rare collections at the Huntington Library (encompassing American and British history from around 1000 CE to the present, in many different subject areas) are among the most heavily-used in the United States, The history of astronomy holdings are a cornerstone within the library's history of science holdings. This talk will present the two faces of the history of astronomy holdings at the Huntington Library. The first of these is the research end of operations: what the collections consist of, how the scholarly public uses the collections, and what the implications are for modern astronomical practice. The second element concerns the public exhibit face of the history of astronomy holdings at The Huntington. Of the 600,000 people who visit the Huntington each year, the majority visit public displays and rare book and manuscript exhibits. "Beautiful Science: Ideas That Changed the World” is a new permanent history of science exhibit. One quarter of the exhibit relates to the history of astronomy. Public exhibits require a particular kind of planning and bring a specific set of values to the history of astronomy. Public exhibits also have their own concerns, and this talk will cover a number of those issues as well as the research issues.

  7. 77 FR 22616 - Huntington Asset Advisors, Inc., et al.; Notice of Application

    Science.gov (United States)

    2012-04-16

    ...''), Huntington Strategy Shares (``Trust''), and SEI Investments Distribution Co. Summary of Application.... \\14\\ If Shares are listed on The NASDAQ Stock Market LLC (``Nasdaq'') or a similar electronic Listing... SECURITIES AND EXCHANGE COMMISSION [Investment Company Act Release No. 30032; 812-13785...

  8. 77 FR 51064 - Huntington Foam LLC, Fort Smith, AR; Notice of Affirmative Determination Regarding Application...

    Science.gov (United States)

    2012-08-23

    ... DEPARTMENT OF LABOR Employment and Training Administration [TA-W-81,475] Huntington Foam LLC, Fort Smith, AR; Notice of Affirmative Determination Regarding Application for Reconsideration By application dated May 21, 2012, the State Workforce Office requested administrative reconsideration of the negative...

  9. The use of olanzapine in Huntington disease accompanied by psychotic symptoms

    Directory of Open Access Journals (Sweden)

    Cafer Alhan

    2014-06-01

    Full Text Available Huntington's disease is an autosomal dominant neurodegenerative disease. The disease begins between the ages of 30-50, including motor symptoms, psychiatric symptoms and is characterized by progressive dementia. Common psychiatric disorders of Huntington’s disease include mood and anxiety disorders, behavior and personality changes. Psychosis is relatively rare. Here, a patient is present, who has Huntington’s disease, which is associated with psychotic symptoms. 61-year-old male patient who were followed for Huntington disease for 25 years was admitted for complaints of thinking of poisoning and refuse to eat something. Patient was started on olanzapine at dose of 5 mg/day. In follow up psychotic symptoms disappeared. Emerging psychotic symptoms in Huntington disease is created a need for antipsychotic treatment. Atypical antipsychotic agents should be preferred in the treatment and as in the case olanzapine may be used as a treatment option should be kept in mind to control both involuntary movements and psychotic symptoms in Huntington's disease with psychotic features. J Clin Exp Invest 2014; 5 (2: 326-328

  10. 3-NP-induced neurodegeneration studies in experimental models of Huntington's disease.

    NARCIS (Netherlands)

    Vis, J.C.

    2005-01-01

    This thesis investigates the possible role of apoptosis, or programmed cell death, in Huntington's disease (HD). HD is caused by an expanded CAG repeat in the N-terminal region of the huntingtin protein leading to specific neostriatal neurodegeneration. The sequence of events that leads to this

  11. Evidence for Deficits on Different Components of Theory of Mind in Huntington's Disease

    NARCIS (Netherlands)

    Allain, P.; Havel-Thomassin, V.; Verny, C.; Gohier, B.; Lancelot, C.; Besnard, J.; Fasotti, L.; Le Gall, D.

    2011-01-01

    Objective: The main aim of this study was to investigate the effects of Huntington's disease (HD) on cognitive and affective Theory of Mind (ToM) abilities. The relation of ToM performance and executive functions was also examined. Method: Eighteen HD patients, early in the course of the disease,

  12. A new mutation for Huntington disease following maternal transmission of an intermediate allele

    NARCIS (Netherlands)

    Semaka, Alicia; Kay, Chris; Belfroid, René D. M.; Bijlsma, Emilia K.; Losekoot, Monique; van Langen, Irene M.; van Maarle, Merel C.; Oosterloo, Mayke; Hayden, Michael R.; van Belzen, Martine J.

    2015-01-01

    New mutations for Huntington disease (HD) originate from CAG repeat expansion of intermediate alleles (27-35 CAG). Expansions of such alleles into the pathological range (≥ 36 CAG) have been exclusively observed in paternal transmission. We report the occurrence of a new mutation that defies the

  13. 75 FR 11939 - Fisher & Paykel Appliances, Inc., Huntington Beach, CA; Notice of Termination of Investigation

    Science.gov (United States)

    2010-03-12

    ... DEPARTMENT OF LABOR Employment and Training Administration [TA-W-71,749] Fisher & Paykel Appliances, Inc., Huntington Beach, CA; Notice of Termination of Investigation Pursuant to Section 221 of the Trade Act of 1974, as amended, an investigation was initiated in response to a petition filed on July 21...

  14. Reversal learning and associative memory impairments in a BACHD rat model for Huntington disease

    NARCIS (Netherlands)

    Abada, Yah-se K.; Nguyen, Huu Phuc; Ellenbroek, Bart; Schreiber, Rudy

    2013-01-01

    Chorea and psychiatric symptoms are hallmarks of Huntington disease (HD), a neurodegenerative disorder, genetically characterized by the presence of expanded CAG repeats (>35) in the HUNTINGTIN (HTT) gene. HD patients present psychiatric symptoms prior to the onset of motor symptoms and we recently

  15. Motor cortex synchronization influences the rhythm of motor performance in premanifest huntington's disease.

    Science.gov (United States)

    Casula, Elias P; Mayer, Isabella M S; Desikan, Mahalekshmi; Tabrizi, Sarah J; Rothwell, John C; Orth, Michael

    2018-03-01

    In Huntington's disease there is evidence of structural damage in the motor system, but it is still unclear how to link this to the behavioral disorder of movement. One feature of choreic movement is variable timing and coordination between sequences of actions. We postulate this results from desynchronization of neural activity in cortical motor areas. The objective of this study was to explore the ability to synchronize activity in a motor network using transcranial magnetic stimulation and to relate this to timing of motor performance. We examined synchronization in oscillatory activity of cortical motor areas in response to an external input produced by a pulse of transcranial magnetic stimulation. We combined this with EEG to compare the response of 16 presymptomatic Huntington's disease participants with 16 age-matched healthy volunteers to test whether the strength of synchronization relates to the variability of motor performance at the following 2 tasks: a grip force task and a speeded-tapping task. Phase synchronization in response to M1 stimulation was lower in Huntington's disease than healthy volunteers (P synchronization (r = -0.356; P synchronization and desynchronization could be a physiological basis for some key clinical features of Huntington's disease. © 2018 International Parkinson and Movement Disorder Society. © 2018 International Parkinson and Movement Disorder Society.

  16. "Our power to remodel civilization": the development of eugenic feminism in Alberta, 1909-1921.

    Science.gov (United States)

    Gibbons, Sheila

    2014-01-01

    In addition to being a prominent political figure in equal rights legislation, Emily Murphy was a vital contributor to programs which sought to improve the human race through forced sterilization. These negative aspects of this period in feminist history tend to be described as outside of the women's sphere, representing instead the patriarchal realm of men. However, both eugenics and the first-wave feminist ambitions for equal political rights were connected through an agrarian construction of "mothers of the race." As "mothers of the race," women in Alberta were responsible for the physical and moral betterment of the nation, and were directly engaged in concepts of intelligent motherhood, healthy childhood, and an overarching moral philosophy that was politically driven.

  17. Eugenics and racial biology in Sweden and the USSR: contacts across the Baltic Sea.

    Science.gov (United States)

    Rudling, Per Anders

    2014-01-01

    The 1920s saw a significant exchange between eugenicists in Sweden and the young Soviet state. Sweden did not take part in World War I, and during the years following immediately upon the Versailles peace treaty, Swedish scholars came to serve as an intermediary link between, on the one hand, Soviet Russia and Weimar Germany, and, on the other hand, Western powers. Swedish eugenicists organized conferences, lecture tours, visits, scholarly exchanges, and transfers and translation of eugenic research. Herman Lundborg, the director of the world's first State Institute of Racial Biology, was an old-fashioned, deeply conservative, and anti-communist "scientific" racist, who somewhat paradoxically came to serve as something of a Western liaison for Soviet eugenicists. Whereas the contacts were disrupted in 1930, Swedish eugenicists had a lasting impact on Soviet physical anthropologists, who cited their works well into the 1970s, long after they had been discredited in Sweden.

  18. Neuroscience in Nazi Europe part I: eugenics, human experimentation, and mass murder.

    Science.gov (United States)

    Zeidman, Lawrence A

    2011-09-01

    The Nazi regime in Germany from 1933 to 1945 waged a veritable war throughout Europe to eliminate neurologic disease from the gene pool. Fueled by eugenic policies on racial hygiene, the Nazis first undertook a sterilization campaign against "mental defectives," which included neurologic patients with epilepsy and other disorders, as well as psychiatric patients. From 1939-41 the Nazis instead resorted to "euthanasia" of many of the same patients. Some neuroscientists were collaborators in this program, using patients for research, or using extracted brains following their murder. Other reviews have focused on Hallervorden, Spatz, Schaltenbrand, Scherer, and Gross, but in this review the focus is on neuroscientists not well described in the neurology literature, including Scholz, Ostertag, Schneider, Nachtsheim, and von Weizsäcker. Only by understanding the actions of neuroscientists during this dark period can we learn from the slippery slope down which they traveled, and prevent history from repeating itself.

  19. Radical Enformel in the Oeuvre of Ivo Gattin and Eugen Feller

    Directory of Open Access Journals (Sweden)

    Ješa Denegri

    2016-01-01

    Full Text Available The paper focuses on Ivo Gattin and Eugen Feller as prominent figures in the so-called “radical Enformel”, an artistic trend in Croatian painting during the late 1950s and early 1960s. Besides them, the representatives of radical Enformel include Vlado Kristl, Marijan Javšovar, and Đuro Seder, who likewise participated in the exhibition Informel 1956-1962 at Nova Gallery in 1977. The theoretical platform for this trend in painting was found in hypotheses presented in the influential text “Materia, tecnica e storia nell’informale” (1959 by the Italian artcritic Giulio Carlo Argan, which were adapted to the specific Croatian circumstances and examples.

  20. Border Gothic - history, violence and the border in the writings of Eugene McCabe

    Directory of Open Access Journals (Sweden)

    Éamonn Ó Ciardha

    2016-12-01

    Full Text Available As well as producing a rich body of novels, novellas, short-stories and plays spanning throughout seventy years of the century of partition, Eugene McCabe charts the broad trajectory of Irish history and politics from the Elizabethan Conquest and Ulster Plantation of the 16th and 17th centuries to the recent 'Troubles' which spanned the thirty years between the beginnings of the Civil Rights Movement (1968 and the signing of the Belfast/Good Friday Agreement (1998. They positively seethe with gruesome assassinations, indiscriminate bombings and deliberate shootings, while resonating with a veritable cacophony of deep-seeded ethnic rivalries and genocidal, religious hatreds, which are interlaced with poverty, social deprivation and dis-function, migration and emigration.

  1. Eugene Onegin the Cold War Monument: How Edmund Wilson Quarreled with Vladimir Nabokov

    Directory of Open Access Journals (Sweden)

    Tim Conley

    2014-01-01

    Full Text Available The tale of how Edmund Wilson quarreled with Vladimir Nabokov over the latter’s 1964 translation of Eugene Onegin can be instructively read as a politically charged event, specifically a “high culture” allegory of the Cold War. Dissemination of anti-Communist ideals (often in liberal and literary guises was the mandate of the Congress for Cultural Freedom, whose funding and editorial initiatives included the publication of both pre-Revolution Russian literature and, more notoriously, the journal Encounter (1953-1990, where Nabokov’s fiery “Reply” to Wilson appeared. This essay outlines the propaganda value of the Onegin debate within and to Cold War mythology.

  2. An image-based model of brain volume biomarker changes in Huntington's disease.

    Science.gov (United States)

    Wijeratne, Peter A; Young, Alexandra L; Oxtoby, Neil P; Marinescu, Razvan V; Firth, Nicholas C; Johnson, Eileanoir B; Mohan, Amrita; Sampaio, Cristina; Scahill, Rachael I; Tabrizi, Sarah J; Alexander, Daniel C

    2018-05-01

    Determining the sequence in which Huntington's disease biomarkers become abnormal can provide important insights into the disease progression and a quantitative tool for patient stratification. Here, we construct and present a uniquely fine-grained model of temporal progression of Huntington's disease from premanifest through to manifest stages. We employ a probabilistic event-based model to determine the sequence of appearance of atrophy in brain volumes, learned from structural MRI in the Track-HD study, as well as to estimate the uncertainty in the ordering. We use longitudinal and phenotypic data to demonstrate the utility of the patient staging system that the resulting model provides. The model recovers the following order of detectable changes in brain region volumes: putamen, caudate, pallidum, insula white matter, nonventricular cerebrospinal fluid, amygdala, optic chiasm, third ventricle, posterior insula, and basal forebrain. This ordering is mostly preserved even under cross-validation of the uncertainty in the event sequence. Longitudinal analysis performed using 6 years of follow-up data from baseline confirms efficacy of the model, as subjects consistently move to later stages with time, and significant correlations are observed between the estimated stages and nonimaging phenotypic markers. We used a data-driven method to provide new insight into Huntington's disease progression as well as new power to stage and predict conversion. Our results highlight the potential of disease progression models, such as the event-based model, to provide new insight into Huntington's disease progression and to support fine-grained patient stratification for future precision medicine in Huntington's disease.

  3. Scientific heritage of Eugene Nikolaevich Savin (07.11.1921–12.02.2017

    Directory of Open Access Journals (Sweden)

    A. I. Lobanov

    2018-02-01

    Full Text Available The analysis of the achievements and scientific heritage of a prominent scientist in the field of forest science, forestry, agroforest amelioration, and protective afforestation, the veteran of the Great Patriotic War, doctor of agricultural sciences, professor, the honored worker of forestry and hunting of Mongolia – Eugene Nikolaevich Savin is given. He made a significant contribution to the development of the scientific basis for agroforestry and protective afforestation, to substantiate the main directions of forest management in different zones and groups of forest types in the Russian Federation and in Mongolia, to develop a master plan for the integrated use of forest resources in Mongolia, to determine the nature of cuttings and the age of final felling for the main forest-forming species, the development of methods of cultivation and the creation of the first industrial forest crops of the Siberian larch and Scotch pine, the creation of a handbook for the inventory of Mongolia forests (2012. In doing so, he revealed the main aspects of the nature of the forest, its functioning, provided information on the composition of tree species, types of stands, methods of restoration and care. Due attention is paid to the water protection and soil protection role of forests. The results of Eugene Nikolaevich Savin research are of current importance for silvicultural, forest crop and agroforest amelioration works. They are included in the normative documents approved at the federal level. The list of his main scientific publications is presented, which just gives an idea of the subject of research, their geography and significance.

  4. Dantrolene is neuroprotective in Huntington's disease transgenic mouse model

    Directory of Open Access Journals (Sweden)

    Chen Xi

    2011-11-01

    Full Text Available Abstract Background Huntington's disease (HD is a progressive neurodegenerative disorder caused by a polyglutamine expansion in the Huntingtin protein which results in the selective degeneration of striatal medium spiny neurons (MSNs. Our group has previously demonstrated that calcium (Ca2+ signaling is abnormal in MSNs from the yeast artificial chromosome transgenic mouse model of HD (YAC128. Moreover, we demonstrated that deranged intracellular Ca2+ signaling sensitizes YAC128 MSNs to glutamate-induced excitotoxicity when compared to wild type (WT MSNs. In previous studies we also observed abnormal neuronal Ca2+ signaling in neurons from spinocerebellar ataxia 2 (SCA2 and spinocerebellar ataxia 3 (SCA3 mouse models and demonstrated that treatment with dantrolene, a ryanodine receptor antagonist and clinically relevant Ca2+ signaling stabilizer, was neuroprotective in experiments with these mouse models. The aim of the current study was to evaluate potential beneficial effects of dantrolene in experiments with YAC128 HD mouse model. Results The application of caffeine and glutamate resulted in increased Ca2+ release from intracellular stores in YAC128 MSN cultures when compared to WT MSN cultures. Pre-treatment with dantrolene protected YAC128 MSNs from glutamate excitotoxicty, with an effective concentration of 100 nM and above. Feeding dantrolene (5 mg/kg twice a week to YAC128 mice between 2 months and 11.5 months of age resulted in significantly improved performance in the beam-walking and gait-walking assays. Neuropathological analysis revealed that long-term dantrolene feeding to YAC128 mice significantly reduced the loss of NeuN-positive striatal neurons and reduced formation of Httexp nuclear aggregates. Conclusions Our results support the hypothesis that deranged Ca2+ signaling plays an important role in HD pathology. Our data also implicate the RyanRs as a potential therapeutic target for the treatment of HD and demonstrate that Ryan

  5. Dantrolene is neuroprotective in Huntington's disease transgenic mouse model.

    Science.gov (United States)

    Chen, Xi; Wu, Jun; Lvovskaya, Svetlana; Herndon, Emily; Supnet, Charlene; Bezprozvanny, Ilya

    2011-11-25

    Huntington's disease (HD) is a progressive neurodegenerative disorder caused by a polyglutamine expansion in the Huntingtin protein which results in the selective degeneration of striatal medium spiny neurons (MSNs). Our group has previously demonstrated that calcium (Ca2+) signaling is abnormal in MSNs from the yeast artificial chromosome transgenic mouse model of HD (YAC128). Moreover, we demonstrated that deranged intracellular Ca2+ signaling sensitizes YAC128 MSNs to glutamate-induced excitotoxicity when compared to wild type (WT) MSNs. In previous studies we also observed abnormal neuronal Ca2+ signaling in neurons from spinocerebellar ataxia 2 (SCA2) and spinocerebellar ataxia 3 (SCA3) mouse models and demonstrated that treatment with dantrolene, a ryanodine receptor antagonist and clinically relevant Ca2+ signaling stabilizer, was neuroprotective in experiments with these mouse models. The aim of the current study was to evaluate potential beneficial effects of dantrolene in experiments with YAC128 HD mouse model. The application of caffeine and glutamate resulted in increased Ca2+ release from intracellular stores in YAC128 MSN cultures when compared to WT MSN cultures. Pre-treatment with dantrolene protected YAC128 MSNs from glutamate excitotoxicty, with an effective concentration of 100 nM and above. Feeding dantrolene (5 mg/kg) twice a week to YAC128 mice between 2 months and 11.5 months of age resulted in significantly improved performance in the beam-walking and gait-walking assays. Neuropathological analysis revealed that long-term dantrolene feeding to YAC128 mice significantly reduced the loss of NeuN-positive striatal neurons and reduced formation of Httexp nuclear aggregates. Our results support the hypothesis that deranged Ca2+ signaling plays an important role in HD pathology. Our data also implicate the RyanRs as a potential therapeutic target for the treatment of HD and demonstrate that RyanR inhibitors and Ca2+ signaling stabilizers such as

  6. Striatal pre-enkephalin overexpression improves Huntington's disease symptoms in the R6/2 mouse model of Huntington's disease.

    Directory of Open Access Journals (Sweden)

    Stéphanie Bissonnette

    Full Text Available The reduction of pre-enkephalin (pENK mRNA expression might be an early sign of striatal neuronal dysfunction in Huntington's disease (HD, due to mutated huntingtin protein. Indeed, striatopallidal (pENK-containing neurodegeneration occurs at earlier stage of the disease, compare to the loss of striatonigral neurons. However, no data are available about the functional role of striatal pENK in HD. According to the neuroprotective properties of opioids that have been recognized recently, the objective of this study was to investigate whether striatal overexpression of pENK at early stage of HD can improve motor dysfunction, and/or reduce striatal neuronal loss in the R6/2 transgenic mouse model of HD. To achieve this goal recombinant adeno-associated-virus (rAAV2-containing green fluorescence protein (GFP-pENK was injected bilaterally in the striatum of R6/2 mice at 5 weeks old to overexpress opioid peptide pENK. Striatal injection of rAAV2-GFP was used as a control. Different behavioral tests were carried out before and/or after striatal injections of rAAV2. The animals were euthanized at 10 weeks old. Our results demonstrate that striatal overexpression of pENK had beneficial effects on behavioral symptoms of HD in R6/2 by: delaying the onset of decline in muscular force; reduction of clasping; improvement of fast motor activity, short-term memory and recognition; as well as normalization of anxiety-like behavior. The improvement of behavioral dysfunction in R6/2 mice having received rAAV2-GFP-pENK associated with upregulation of striatal pENK mRNA; the increased level of enkephalin peptide in the striatum, globus pallidus and substantia nigra; as well as the slight increase in the number of striatal neurons compared with other groups of R6/2. Accordingly, we suggest that at early stage of HD upregulation of striatal enkephalin might play a key role at attenuating illness symptoms.

  7. Refrigerator Mothers and Sick Little Boys: Bruno Bettelheim, Eugenics and the De-Pathologization of Jewish Identity

    Directory of Open Access Journals (Sweden)

    griffin jaye epstein

    2014-06-01

    Full Text Available Child psychologist and Nazi concentration camp survivor Bruno Bettelheim’s influential theories of autism reveal a startling connection between Jewish identity, the medicalization of disability, colonial eugenics and race-making practices over the 20th century in North America. Using Bettelheim’s life and work as a case-study, this paper explores Ashkenazi Jewish immigrant complicity in a whitened colonial landscape through the lens of Disability Studies. It asks the question: can we be more accountable to our disabled identities – and to those disabled people who have come before us – if we learn how our families, our identities, our very selves have been complicit in medicalization and violence?  Keywords: madness, race, whiteness, Jewish identity, eugenics, psychiatry

  8. Clinical and genetic study of a juvenile-onset Huntington disease

    Directory of Open Access Journals (Sweden)

    HAO Ying

    2012-06-01

    Full Text Available Background Huntington's disease (HD is an autosomal dominant hereditary progressive neurodegenerative disorder with a distinct phenotype characterized by chorea, dementia, cognitive and affective impairment. There are selective neural cell loss and atrophy in the caudate and putamen. Dr. George Huntington firstly described the disease accurately and insightfully, which led to a widespread recognition of the inherited chorea that now bears his name. Huntington disease gene (IT15 locus on chromosome 4p16.3, and encompasses 67 exons with a trinucleotide repeat (CAG in the first exon. The CAG repeat length is highly polymorphic in the population and expanded on at least one chromosome of individuals with HD. Clinically, patient with HD are often onset in adulthood. Juvenile-onset HD is relatively rare. Adult-onset HD patients usually have a CAG expansion from 40 to 55 whereas those with juvenile-onset greater than 60 which are often inherited from the father. We investigated the clinical features of a juvenile-onset case with Huntington disease and dynamic mutation of his family. Methods The CAG repeats of IT15 gene were detected using polymerase chain reaction and capillary electrophoresis in 115 individuals with preliminary diagnosis as Huntington disease. The repeat numbers of some samples carried expanded or intermediate alleles were verified by the pMD18-T vector clone sequencing. Results Fragment analysis showed that one juvenile-onset case presenting with cognitive dysfunction and hypokinesis carried 15/68 CAG repeats of IT15. His father carried 17/37 and mother carried 15/17. Conclusion 1 The juvenile-onset case of HD presented with different clinical features compared with adult-onset cases. The typical signs of adult-onset cases include progressive chorea, rigidity and dementia. The most common sign of juvenile-onset Huntington disease is cognitive decline. 2 The dynamic mutation of IT15 gene expansion of the CAG repeats in the

  9. Presence of tau pathology within foetal neural allografts in patients with Huntington's and Parkinson's disease.

    Science.gov (United States)

    Cisbani, Giulia; Maxan, Alexander; Kordower, Jeffrey H; Planel, Emmanuel; Freeman, Thomas B; Cicchetti, Francesca

    2017-11-01

    Cell replacement has been explored as a therapeutic strategy to repair the brain in patients with Huntington's and Parkinson's disease. Post-mortem evaluations of healthy grafted tissue in such cases have revealed the development of Huntington- or Parkinson-like pathology including mutant huntingtin aggregates and Lewy bodies. An outstanding question remains if tau pathology can also be seen in patients with Huntington's and Parkinson's disease who had received foetal neural allografts. This was addressed by immunohistochemical/immunofluorescent stainings performed on grafted tissue of two Huntington's disease patients, who came to autopsy 9 and 12 years post-transplantation, and two patients with Parkinson's disease who came to autopsy 18 months and 16 years post-transplantation. We show that grafts also contain tau pathology in both types of transplanted patients. In two patients with Huntington's disease, the grafted tissue showed the presence of hyperphosphorylated tau [both AT8 (phospho-tau Ser202 and Thr205) and CP13 (pSer202) immunohistochemical stainings] pathological inclusions, neurofibrillary tangles and neuropil threads. In patients with Parkinson's disease, the grafted tissue was characterized by hyperphosphorylated tau (AT8; immunofluorescent staining) pathological inclusions, neurofibrillary tangles and neuropil threads but only in the patient who came to autopsy 16 years post-transplantation. Abundant tau-related pathology was observed in the cortex and striatum of all cases studied. While the striatum of the grafted Huntington's disease patient revealed an equal amount of 3-repeat and 4-repeat isoforms of tau, the grafted tissue showed elevated 4-repeat isoforms by western blot. This suggests that transplants may have acquired tau pathology from the host brain, although another possibility is that this was due to acceleration of ageing. This finding not only adds to the recent reports that tau pathology is a feature of these neurodegenerative

  10. A Digital Humanities Approach to the History of Science Eugenics Revisited in Hidden Debates by Means of Semantic Text Mining

    OpenAIRE

    Huijnen, Pim; Laan, Fons; de Rijke, Maarten; Pieters, Toine

    2014-01-01

    Comparative historical research on the the intensity, diversity and fluidity of public discourses has been severely hampered by the extraordinary task of manually gathering and processing large sets of opinionated data in news media in different countries. At most 50,000 documents have been systematically studied in a single comparative historical project in the subject area of heredity and eugenics. Digital techniques, like the text mining tools WAHSP and BILAND we have developed in two succ...

  11. The Liberal Eugenics: A Look from the Composition the Future of Human Nature by Jürgen Habermas

    Directory of Open Access Journals (Sweden)

    Riva Sobrado De Freitas

    2015-12-01

    Full Text Available This article intends to analyze the liberal eugenics from the understanding of Jürgen Habermas in the composition The Future of Human Nature, mainly with respect to the possibilities that the subject exposed to genetic manipulation procedures may have hurt its right to self-understanding and, consequently, its personal dignity. The purpose consists in investigating the idea introduced by the author about the liberal eugenics and its possible consequences in relation to the rights of the subject exposed to that practice. Therefore, it was done an exploratory and explanatory bibliographical research, qualitative, using the hypothetical-deductive method. The results achieved with the research are related to the study of the theme through a philosophical perspective, also verifying, that, in the authors point of view, the deliberate use of genetic manipulation techniques is dangerous, by the possibility of hurting the subjects rights, who is the object of this manipulation. The conclusion is that, surely, despite the several contributions brought to the humanity by the genetic engineering, there are issues to be thought and, in the specific issue of the liberal eugenics, the subjects right of self-understanding could, somehow, have been broken in case of intervention in its genetic material, mainly in relation to the selection of the desired characteristics. The contribution achieved with this study is guided in clearing an important theme, and while so polemic, and precisely for this reason needs to be analyzed, by the philosophys point of view, mainly by Jürgen Habermas knowledge.

  12. "One of the Most Uniform Races of the Entire World": Creole Eugenics and the Myth of Chilean Racial Homogeneity.

    Science.gov (United States)

    Walsh, Sarah

    2015-11-01

    This article illuminates why Nicolás Palacios's 1904 monograph, Raza chilena: Libro escrito por un Chileno i para los Chilenos [Chilean Race: A Book Written by a Chilean for Chileans], is central to the creation of a myth of Chilean racial homogeneity at the turn of the twentieth century. Placing Palacios in the context of Latin American eugenic discourse, it demonstrates how he selected a specific racial origin story in order to accommodate his belief in racial hierarchy while also depicting race mixing in a positive light. Specifically, the article highlights how the myth of Chilean racial homogeneity elided the difference between the term "mestizo," which was applied to people of mixed racial heritage, and "white." I contend that Palacios sought to differentiate Chileans from other Latin Americans by emphasizing their racial distinctiveness. The article therefore highlights that Latin American eugenics was concerned with the creation of national narratives that historicized particular racial mixtures in order to reify and affirm national differences. As such, it connects to literature regarding the history of eugenics, race, nation, and the creation of whiteness.

  13. Throwing the baby out with the bathwater: a critique of Sparrow's inclusive definition of the term 'in vitro eugenics'.

    Science.gov (United States)

    Fujita, Misao; Yashiro, Yoshimi; Suzuki, Mika

    2014-11-01

    Sparrow highlights three potential applications of in vitro eugenics, that is, (a) research into the heredity of genetic disorders, (b) production of cell lines with specific genotypes, and (c) breeding better babies, and points to the need for researchers to discuss in advance the potential ethical problems that may emerge if the realization of this technology occurs in the near future. In this commentary, we pose a question for the sake of discussion. Is it, in fact, appropriate to label all three applications raised by Sparrow as eugenics? By doing so, an unnecessary level of concern might be borne among the public, and as a result, the sound development of this specialized technology would be affected. If the label of eugenics is to be applied to all three of these applications, then Sparrow must justify how he perceives (a) and (b) as not inherently different from (c). Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  14. Radiation sensitivity of fibroblast strains from patients with Usher's syndrome, Duchenne muscular dystrophy, and Huntington's disease

    International Nuclear Information System (INIS)

    Nove, J.; Little, J.B.; Tarone, R.E.; Robbins, J.H.

    1987-01-01

    The colony-forming ability of 10 normal human fibroblast cell strains and of 10 strains representing 3 degenerative diseases of either nerve or muscle cells was determined after exposure of the cells to X-rays or β-particles from tritiated water. Both methods of irradiation yielded similar comparative results. The fibroblast strains from the 5 Usher's syndrome patients and from 1 of the 2 Huntington's disease patients were hypersensitive to radiation, while those from the 3 Duchenne muscular dystrophy patients and the second Huntington's disease patient had normal sensitivity to radiation. These results indicate both disease-specific and strain-specific differences in the survival of fibroblasts after exposure to ionizing radiation. 38 refs.; 2 figs.; 3 tabs

  15. Huntington's disease predictive testing: the case for an assessment approach to requests from adolescents.

    Science.gov (United States)

    Binedell, J; Soldan, J R; Scourfield, J; Harper, P S

    1996-01-01

    Adolescents who are actively requesting Huntington's predictive testing of their own accord pose a dilemma to those providing testing. In the absence of empirical evidence as regards the impact of genetic testing on minors, current policy and guidelines, based on the ethical principles of non-maleficence and respect for individual autonomy and confidentiality, generally exclude the testing of minors. It is argued that adherence to an age based exclusion criterion in Huntington's disease predictive testing protocols is out of step with trends in UK case law concerning minors' consent to medical treatment. Furthermore, contributions from developmental psychology and research into adolescents' decision making competence suggest that adolescents can make informed choices about their health and personal lives. Criteria for developing an assessment approach to such requests are put forward and the implications of a case by case evaluation of competence to consent in terms of clinicians' tolerance for uncertainty are discussed. PMID:8950670

  16. Grunting in genetically modified minipig animal model for Huntington ´s disease - a pilot experiment

    Czech Academy of Sciences Publication Activity Database

    Tykalová, T.; Hlavnička, J.; Mačáková, Monika; Baxa, Monika; Cmejla, R.; Motlík, Jan; Klempíř, J.; Rusz, J.

    2015-01-01

    Roč. 78, Suppl 2 (2015), s. 12-13 ISSN 1210-7859. [Conference on Animal Models for neurodegenerative Diseases /3./. 08.11.2015-10.11.2015, Liblice] R&D Projects: GA MŠk ED2.1.00/03.0124; GA MŠk(CZ) 7F14308 Institutional support: RVO:67985904 Keywords : Huntington ´s disease * mitochondria * DNA damage Subject RIV: FH - Neurology

  17. Double strand DNA breaks response in Huntington´s disease

    Czech Academy of Sciences Publication Activity Database

    Šolc, Petr; Valášek, Jan; Rausová, Petra; Juhásová, Jana; Juhás, Štefan; Motlík, Jan

    2015-01-01

    Roč. 78, Suppl 2 (2015), s. 15-15 ISSN 1210-7859. [Conference on Animal Models for neurodegenerative Diseases /3./. 08.11.2015-10.11.2015, Liblice] R&D Projects: GA MŠk ED2.1.00/03.0124; GA MŠk(CZ) 7F14308 Institutional support: RVO:67985904 Keywords : Huntington ´s disease * DNA damage * double strand DNA breaks Subject RIV: FH - Neurology

  18. Dynamics of the connectome in Huntington's disease: A longitudinal diffusion MRI study

    OpenAIRE

    Odish, Omar F.F.; Caeyenberghs, Karen; Hosseini, Hadi; van den Bogaard, Simon J.A.; Roos, Raymund A.C.; Leemans, Alexander

    2015-01-01

    Abstract Objectives To longitudinally investigate the connectome in different stages of Huntington's disease (HD) by applying graph theoretical analysis to diffusion MRI data. Experimental design We constructed weighted structural networks and calculated their topological properties. Twenty-two premanifest (preHD), 10 early manifest HD and 24 healthy controls completed baseline and 2 year follow-up scans. We stratified the preHD group based on their predicted years to disease onset into a far...

  19. Minipig Model of Huntington's Disease: H-1 Magnetic Resonance Spectroscopy of the Brain

    Czech Academy of Sciences Publication Activity Database

    Jozefovičová, M.; Herynek, V.; Jírů, F.; Dezortová, M.; Juhásová, Jana; Juhás, Štefan; Motlík, Jan; Hájek, M.

    2016-01-01

    Roč. 65, č. 1 (2016), s. 155-163 ISSN 0862-8408 R&D Projects: GA TA ČR(CZ) TA01011466; GA MŠk(CZ) 7F14308; GA MŠk ED2.1.00/03.0124 Institutional support: RVO:67985904 Keywords : Huntington´s disease * minipigs * magnetic resonance spectroscopy Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 1.461, year: 2016

  20. Human glia can both induce and rescue aspects of disease phenotype in Huntington disease

    DEFF Research Database (Denmark)

    Benraiss, Abdellatif; Wang, Su; Herrlinger, Stephanie

    2016-01-01

    The causal contribution of glial pathology to Huntington disease (HD) has not been heavily explored. To define the contribution of glia to HD, we established human HD glial chimeras by neonatally engrafting immunodeficient mice with mutant huntingtin (mHTT)-expressing human glial progenitor cells...... chimeras are hyperexcitable. Conversely, normal glia can ameliorate disease phenotype in transgenic HD mice, as striatal transplantation of normal glia rescues aspects of electrophysiological and behavioural phenotype, restores interstitial potassium homeostasis, slows disease progression and extends...

  1. The Effect of Music Therapy in Patients with Huntington's Disease: A Randomized Controlled Trial.

    Science.gov (United States)

    van Bruggen-Rufi, Monique C H; Vink, Annemieke C; Wolterbeek, Ron; Achterberg, Wilco P; Roos, Raymund A C

    2017-01-01

    Music therapy may have beneficial effects on improving communication and expressive skills in patients with Huntington's disease (HD). Most studies are, however, small observational studies and methodologically limited. Therefore we conducted a multi-center randomized controlled trial. To determine the efficacy of music therapy in comparison with recreational therapy in improving quality of life of patients with advanced Huntington's disease by means of improving communication. Sixty-three HD-patients with a Total Functional Capacity (TFC) score of ≤7, admitted to four long-term care facilities in The Netherlands, were randomized to receive either group music therapy or group recreational therapy in 16 weekly sessions. They were assessed at baseline, after 8, 16 and 28 weeks using the Behaviour Observation Scale for Huntington (BOSH) and the Problem Behaviour Assessment-short version (PBA-s). A linear mixed model with repeated measures was used to compare the scores between the two groups. Group music therapy offered once weekly for 16 weeks to patients with Huntington's disease had no additional beneficial effect on communication or behavior compared to group recreational therapy. This was the first study to assess the effect of group music therapy on HD patients in the advanced stages of the disease. The beneficial effects of music therapy, recorded in many, mainly qualitative case reports and studies, could not be confirmed with the design (i.e. group therapy vs individual therapy) and outcome measures that have been used in the present study. A comprehensive process-evaluation alongside the present effect evaluation is therefore performed.

  2. EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease

    OpenAIRE

    Losekoot, Monique; van Belzen, Martine J; Seneca, Sara; Bauer, Peter; Stenhouse, Susan A R; Barton, David E

    2012-01-01

    Huntington disease (HD) is caused by the expansion of an unstable polymorphic trinucleotide (CAG)n repeat in exon 1 of the HTT gene, which translates into an extended polyglutamine tract in the protein. Laboratory diagnosis of HD involves estimation of the number of CAG repeats. Molecular genetic testing for HD is offered in a wide range of laboratories both within and outside the European community. In order to measure the quality and raise the standard of molecular genetic testing in these ...

  3. Rhes deletion is neuroprotective in the 3-nitropropionic acid model of Huntington's disease

    OpenAIRE

    Mealer, Robert G.; Subramaniam, Srinivasa; Snyder, Solomon H.

    2013-01-01

    Although the mutated protein causing Huntington's disease (HD) is expressed throughout the body, the major pathology of HD is localized to the striatum of the brain. We previously reported that the striatal-enriched protein Rhes binds the mutated huntingtin protein and enhances its cytotoxicity. We now demonstrate that Rhes-deleted mice are dramatically protected from neurotoxicity and motor dysfunction in a striatal-specific model of HD elicited by 3-nitropropionic acid. This finding suggest...

  4. Randomized controlled trial of ethyl-eicosapentaenoic acid in Huntington disease: the TREND-HD study.

    Science.gov (United States)

    2008-12-01

    To determine whether ethyl-eicosapentaenoic acid (ethyl-EPA), an omega-3 fatty acid, improves the motor features of Huntington disease. Six-month multicenter, randomized, double-blind, placebo-controlled trial followed by a 6-month open-label phase without disclosing initial treatment assignments. Forty-one research sites in the United States and Canada. Three hundred sixteen adults with Huntington disease, enriched for a population with shorter trinucleotide (cytosine-adenine-guanine) repeat length expansions. Random assignment to placebo or ethyl-EPA, 1 g twice a day, followed by open-label treatment with ethyl-EPA. Six-month change in the Total Motor Score 4 component of the Unified Huntington's Disease Rating Scale analyzed for all research participants and those with shorter cytosine-adenine-guanine repeat length expansions (<45). At 6 months, the Total Motor Score 4 point change for patients receiving ethyl-EPA did not differ from that for those receiving placebo. No differences were found in measures of function, cognition, or global impression. Before public disclosure of the 6-month placebo-controlled results, 192 individuals completed the open-label phase. The Total Motor Score 4 change did not worsen for those who received active treatment for 12 continuous months compared with those who received active treatment for only 6 months (2.0-point worsening; P=.02). Ethyl-EPA was not beneficial in patients with Huntington disease during 6 months of placebo-controlled evaluation. Clinical Trial Registry clinicaltrials.gov Identifier: NCT00146211.

  5. Tauroursodeoxycholic acid, a bile acid, is neuroprotective in a transgenic animal model of Huntington's disease

    OpenAIRE

    Keene, C. Dirk; Rodrigues, Cecilia M. P.; Eich, Tacjana; Chhabra, Manik S.; Steer, Clifford J.; Low, Walter C.

    2002-01-01

    Huntington's disease (HD) is an untreatable neurological disorder caused by selective and progressive degeneration of the caudate nucleus and putamen of the basal ganglia. Although the etiology of HD pathology is not fully understood, the observed loss of neuronal cells is thought to occur primarily through apoptosis. Furthermore, there is evidence in HD that cell death is mediated through mitochondrial pathways, and mitochondrial deficits are commonly associated with HD. We have previously r...

  6. Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder.

    Science.gov (United States)

    Ramos, Eliana Marisa; Gillis, Tammy; Mysore, Jayalakshmi S; Lee, Jong-Min; Alonso, Isabel; Gusella, James F; Smoller, Jordan W; Sklar, Pamela; MacDonald, Marcy E; Perlis, Roy H

    2015-06-01

    Huntington's disease is a neurodegenerative disorder characterized by motor, cognitive, and psychiatric symptoms that are caused by huntingtin gene (HTT) CAG trinucleotide repeat alleles of 36 or more units. A greater than expected prevalence of incompletely penetrant HTT CAG repeat alleles observed among individuals diagnosed with major depressive disorder raises the possibility that another mood disorder, bipolar disorder, could likewise be associated with Huntington's disease. We assessed the distribution of HTT CAG repeat alleles in a cohort of individuals with bipolar disorder. HTT CAG allele sizes from 2,229 Caucasian individuals diagnosed with DSM-IV bipolar disorder were compared to allele sizes in 1,828 control individuals from multiple cohorts. We found that HTT CAG repeat alleles > 35 units were observed in only one of 4,458 chromosomes from individuals with bipolar disorder, compared to three of 3,656 chromosomes from control subjects. These findings do not support an association between bipolar disorder and Huntington's disease. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  7. Palliative Care in Huntington Disease: Personal Reflections and a Review of the Literature

    Directory of Open Access Journals (Sweden)

    Christopher G. Tarolli

    2017-04-01

    Full Text Available Background Huntington disease is a fatal, autosomal dominant, neurodegenerative disorder manifest by the triad of a movement disorder, behavioral disturbances, and dementia. At present, no curative or disease modifying therapies exist for the condition and current treatments are symptomatic. Palliative care is an approach to care that focuses on symptom relief, patient and caregiver support, and end of life care. There is increasing evidence of the benefit of palliative care throughout the course of neurodegenerative conditions including Parkinson disease and amyotrophic lateral sclerosis. However, beyond its application at the end of life, little is known about the role of palliative care in Huntington disease.Methods In this article, we discuss what is known about palliative care in Huntington disease, specifically related to early disease burden, caregiver burnout, advance care planning, and end of life care.Results We provide a review of the current literature and discuss our own care practices.Discussion We conclude by discussing questions that remain unanswered and positing ideas for future work in the field.

  8. Did the "Woman in the Attic" in Jane Eyre Have Huntington Disease?

    Directory of Open Access Journals (Sweden)

    Elizabeth A. Coon

    2015-07-01

    Full Text Available Background: References to neurologic disorders are frequently found in fictional literature and may precede description in the medical literature. Aim: Our aim was to compare Charlotte Brontë’s depiction of Bertha Mason in Jane Eyre to the tenets set forth in George Huntington’s original essay “On chorea” with the hypothesis that Mason was displaying features of Huntington disease. Results: Charlotte Brontë’s 1847 Victorian novel Jane Eyre features the character Bertha Mason, who is portrayed with a progressive psychiatric illness, violent movements, and possible cognitive decline. Similar to Huntington’s tenets, Mason has a disorder with a strong family history suggestive of autosomal dominant inheritance with onset in adulthood, and culminating in suicide. Conclusion: Brontë’s character had features of Huntington disease as originally described by Huntington. Brontë’s keen characterization may have increased awareness of treatment of neuropsychiatric patients in the Victorian era.

  9. Juvenile Huntington's disease confirmed by genetic examination in twins Doença de Huntington juvenil confirmada por exame genético em gêmeas

    Directory of Open Access Journals (Sweden)

    GILBERTO LEVY

    1999-09-01

    Full Text Available Early-onset Huntington's disease (HD occurs in approximately 10% of HD's cases. We report juvenile HD in phenotypically identical twins, evaluated by history, clinical and neurologic examination, mini-mental state examination, blood laboratory exams, cerebrospinal fluid examination, skull computed tomography, and genetic examination for HD. Patients had the akinetic-rigid variety (Westphal variant of the disease and paternal inheritance. The laboratory workup confirmed the clinical diagnosis of HD, which adds this report to the rare cases of HD in twins reported in the literature.Doença de Huntington (DH de início precoce ocorre em aproximadamente 10% dos casos de DH. Relatamos DH juvenil em gêmeas fenotipicamente idênticas, avaliadas por história, exames clínico e neurológico, mini-exame do estado mental, exames de sangue, exame do líquido cefalorraquidiano, tomografia computadorizada de crânio e exame genético para DH. As pacientes apresentavam a variedade rígido-acinética (variante de Westphal da doença e herança paterna. A avaliação laboratorial confirmou o diagnóstico clínico de DH, acrescentando-se este relato aos raros casos de DH em gêmeos relatados na literatura.

  10. Female Gynecologists and Their Birth Control Clinics: Eugenics in Practice in 1920s-1930s China.

    Science.gov (United States)

    David, Mirela

    2018-01-01

    Yang Chao Buwei, the first Chinese translator of Margaret Sanger's What Every Girl Should Know, was the first female gynecologist to open up a birth control clinic in China. By the 1930s, other female gynecologists, like Guo Taihua, had internalized and combined national and eugenic concerns of race regeneration to focus on the control of women's reproduction. This symbiosis between racial regeneration and birth control is best seen in Yang Chongrui's integration of birth control into her national hygiene program. This article traces the efforts of pioneer gynecologists in giving contraceptive advice at their birth control clinics, which they framed as a humanitarian effort to ease the reproductive burden of working-class women. It also examines their connections with Sanger's international birth control movement, and their advocacy of contraception as practitioners, translators, and educators. The author argues that these Chinese female gynecologists not only borrowed, but adapted, Western scientific knowledge to Chinese social conditions through their writings and translations and in their clinical work.

  11. More than a Mentor: Leonard Darwin's Contribution to the Assimilation of Mendelism into Eugenics and Darwinism.

    Science.gov (United States)

    Serpente, Norberto

    2016-08-01

    This article discusses the contribution to evolutionary theory of Leonard Darwin (1850-1943), the eighth child of Charles Darwin. By analysing the correspondence Leonard Darwin maintained with Ronald Aylmer Fisher in conjunction with an assessment of his books and other written works between the 1910s and 1930s, this article argues for a more prominent role played by him than the previously recognised in the literature as an informal mentor of Fisher. The paper discusses Leonard's efforts to amalgamate Mendelism with both Eugenics and Darwinism in order for the first to base their policies on new scientific developments and to help the second in finding a target for natural selection. Without a formal qualification in biological sciences and as such mistrusted by some "formal" scientists, Leonard Darwin engaged with key themes of Darwinism such as mimicry, the role of mutations on speciation and the process of genetic variability, arriving at important conclusions concerning the usefulness of Mendelian genetics for his father's theory.

  12. Eugenics and Mandatory Informed Prenatal Genetic Testing: A Unique Perspective from China.

    Science.gov (United States)

    Zhang, Di; Ng, Vincent H; Wang, Zhaochen; Zhai, Xiaomei; Lie, Reidar K

    2016-08-01

    The application of genetic technologies in China, especially in the area of prenatal genetic testing, is rapidly increasing in China. In the wealthy regions of China, prenatal genetic testing is already very widely adopted. We argue that the government should actively promote prenatal genetic testing to the poor areas of the country. In fact, the government should prioritize resources first to make prenatal genetic testing a standard routine care with an opt-out model in these area. Healthcare professions would be required to inform pregnant women about the availability of genetic testing and provide free testing on a routine basis unless the parents choose not to do so. We argue that this proposal will allow parents to make a more informed decision about their reproductive choices. Secondarily, this proposal will attract more healthcare professionals and other healthcare resources to improve the healthcare infrastructures in the less-developed regions of the country. This will help to reduce the inequity of accessing healthcare services between in different regions of China. We further argue that this policy proposal is not practicing eugenics. © 2015 John Wiley & Sons Ltd.

  13. Eugenics, environment, and acclimatizing to Manchukuo: psychiatric studies of Japanese colonists.

    Science.gov (United States)

    Matsumura, Janice

    2010-09-01

    Both the advocates and critics of what has been called "the new imperial history," which may be characterized by its focus on how colonies were not simply influenced by but also exercised an influence on a dominating foreign state, have inspired this article. The article addresses the production and dissemination of medical knowledge in its examination of psychiatric research conducted in the 1930s in Japan's unofficial colony of Manchukuo. It highlights the political dimension of studies of psychosomatic disorders, syphilis, and alcoholism among colonists by placing it in the context of contending theories of racial improvement and growing official support for mass migration, especially to northeast China. Moreover, it inquires into restrictions on the flow of ideas from the colonies by examining how these studies were received in Japan. While interest in the colonies ensured that psychiatrists in Manchukuo were able to publish their research in leading Japanese medical journals, their findings jeopardized too many political and professional interests to become more public. In much-publicized debates stimulated by the impeding establishment of eugenic sterilization legislation, their colleagues in Japan in the late 1930s who championed the argument of environment over heredity were conspicuously silent about conditions among Japanese colonists, using instead examples of European and North American colonists to make their case.

  14. Eugen Bleuler's Dementia Praecox or the Group of Schizophrenias (1911): A Centenary Appreciation and Reconsideration

    Science.gov (United States)

    Moskowitz, Andrew; Heim, Gerhard

    2011-01-01

    On the 100th anniversary of the publication of Eugen Bleuler's Dementia Praecox or the Group of Schizophrenias, his teachings on schizophrenia from that seminal book are reviewed and reassessed, and implications for the current revision of the category of schizophrenia, with its emphasis on psychotic symptoms, drawn. Bleuler's methods are contrasted with Kraepelin's, and 4 myths about his concept of schizophrenia addressed. We demonstrate that (1) Bleuler's concept of schizophrenia has close ties to historical and contemporary concepts of dissociation and as such the public interpretation of schizophrenia as split personality has some historical basis; (2) Bleuler's concept of loosening of associations does not refer narrowly to a disorder of thought but broadly to a core organically based psychological deficit which underlies the other symptoms of schizophrenia; (3) the “4 A's,” for association, affect, ambivalence, and autism, do not adequately summarize Bleuler's teachings on schizophrenia and marginalize the central role of splitting in his conception; and (4) Bleuler's ideas were more powerfully influenced by Pierre Janet, particularly with regard to his diagnostic category Psychasthenia, than by Sigmund Freud. We conclude that Bleuler's ideas on schizophrenia warrant reexamination in the light of current criticism of the emphasis on psychotic symptoms in the schizophrenia diagnosis and argue for the recognition of the dissociative roots of this most important psychiatric category. PMID:21505113

  15. Lacanian Orders in Eugene O’Neill’s Long Day’s Journey into Night

    Directory of Open Access Journals (Sweden)

    Sima Farshid

    2013-03-01

    Full Text Available This paper presents a Lacanian reading of Eugene O’Neill’s Long Day’s Journey into Night (1941 by drawing on the psychic orders the well-known French psychoanalyst Jacques Lacan has propounded. He holds that human psyche is formed of three orders (the Imaginary, the Symbolic and the Real which mold the unconscious mind and motivate human actions and reactions. He also argues that the Other has an immense impact on the formation of psychic orders, especially the Symbolic, and hence on one’s identity. The present article attempts to investigate the three orders of the characters O’Neill has portrayed in Long Day’s Journey into Night, besides the role of the Other in the formation of those orders. The reactions of these characters to the outside world are regarded here as the outer presentation of their troubled mind. It is also discussed that the mental and physical problems and disorders of these characters, such as their addiction to alcohol and drugs, are the outcome of their repressed desires which have remained unfulfilled because of the rules defined and imposed on them by the Other – hence the frustrating sense of lack observed in all four characters.

  16. Survival End Points for Huntington Disease Trials Prior to a Motor Diagnosis.

    Science.gov (United States)

    Long, Jeffrey D; Mills, James A; Leavitt, Blair R; Durr, Alexandra; Roos, Raymund A; Stout, Julie C; Reilmann, Ralf; Landwehrmeyer, Bernhard; Gregory, Sarah; Scahill, Rachael I; Langbehn, Douglas R; Tabrizi, Sarah J

    2017-11-01

    Predictive genetic testing in Huntington disease (HD) enables therapeutic trials in HTT gene expansion mutation carriers prior to a motor diagnosis. Progression-free survival (PFS) is the composite of a motor diagnosis or a progression event, whichever comes first. To determine if PFS provides feasible sample sizes for trials with mutation carriers who have not yet received a motor diagnosis. This study uses data from the 2-phase, longitudinal cohort studies called Track and from a longitudinal cohort study called the Cooperative Huntington Observational Research Trial (COHORT). Track had 167 prediagnosis mutation carriers and 156 noncarriers, whereas COHORT had 366 prediagnosis mutation carriers and noncarriers. Track studies were conducted at 4 sites in 4 countries (Canada, France, England, and the Netherlands) from which data were collected from January 17, 2008, through November 17, 2014. The COHORT was conducted at 38 sites in 3 countries (Australia, Canada, and the United States) from which data were collected from February 14, 2006, through December 31, 2009. Results from the Track data were externally validated with data from the COHORT. The required sample size was estimated for a 2-arm prediagnosis clinical trial. Data analysis took place from May 1, 2016, to June 10, 2017. The primary end point is PFS. Huntington disease progression events are defined for the Unified Huntington's Disease Rating Scale total motor score, total functional capacity, symbol digit modalities test, and Stroop word test. Of Track's 167 prediagnosis mutation carriers, 93 (55.6%) were women, and the mean (SD) age was 40.06 (8.92) years; of the 156 noncarriers, 87 (55.7%) were women, and the mean (SD) age was 45.58 (10.30) years. Of the 366 COHORT participants, 229 (62.5%) were women and the mean (SD) age was 42.21 (12.48) years. The PFS curves of the Track mutation carriers showed good external validity with the COHORT mutation carriers after adjusting for initial progression. For

  17. Network topology and functional connectivity disturbances precede the onset of Huntington's disease.

    Science.gov (United States)

    Harrington, Deborah L; Rubinov, Mikail; Durgerian, Sally; Mourany, Lyla; Reece, Christine; Koenig, Katherine; Bullmore, Ed; Long, Jeffrey D; Paulsen, Jane S; Rao, Stephen M

    2015-08-01

    Cognitive, motor and psychiatric changes in prodromal Huntington's disease have nurtured the emergent need for early interventions. Preventive clinical trials for Huntington's disease, however, are limited by a shortage of suitable measures that could serve as surrogate outcomes. Measures of intrinsic functional connectivity from resting-state functional magnetic resonance imaging are of keen interest. Yet recent studies suggest circumscribed abnormalities in resting-state functional magnetic resonance imaging connectivity in prodromal Huntington's disease, despite the spectrum of behavioural changes preceding a manifest diagnosis. The present study used two complementary analytical approaches to examine whole-brain resting-state functional magnetic resonance imaging connectivity in prodromal Huntington's disease. Network topology was studied using graph theory and simple functional connectivity amongst brain regions was explored using the network-based statistic. Participants consisted of gene-negative controls (n = 16) and prodromal Huntington's disease individuals (n = 48) with various stages of disease progression to examine the influence of disease burden on intrinsic connectivity. Graph theory analyses showed that global network interconnectivity approximated a random network topology as proximity to diagnosis neared and this was associated with decreased connectivity amongst highly-connected rich-club network hubs, which integrate processing from diverse brain regions. However, functional segregation within the global network (average clustering) was preserved. Functional segregation was also largely maintained at the local level, except for the notable decrease in the diversity of anterior insula intermodular-interconnections (participation coefficient), irrespective of disease burden. In contrast, network-based statistic analyses revealed patterns of weakened frontostriatal connections and strengthened frontal-posterior connections that evolved as disease

  18. A randomized, double-blind, placebo-controlled study of latrepirdine in patients with mild to moderate Huntington disease

    DEFF Research Database (Denmark)

    Hjermind, Lena Elisabeth

    2013-01-01

    BACKGROUND Latrepirdine is an orally administered experimental small molecule that was initially developed as an antihistamine and subsequently was shown to stabilize mitochondrial membranes and function, which might be impaired in Huntington disease. OBJECTIVE To determine the effect of latrepir......BACKGROUND Latrepirdine is an orally administered experimental small molecule that was initially developed as an antihistamine and subsequently was shown to stabilize mitochondrial membranes and function, which might be impaired in Huntington disease. OBJECTIVE To determine the effect...... of latrepirdine on cognition and global function in patients with mild to moderate Huntington disease. DESIGN Randomized, double-blind, placebo-controlled study. SETTING Sixty-four research centers in Australia, Europe, and North America. PATIENTS Four hundred three patients with mild to moderate Huntington...... between those randomized to latrepirdine (68.5%) and placebo (68.0%). CONCLUSION In patients with mild to moderate Huntington disease and cognitive impairment, treatment with latrepirdine for 6 months was safe and well tolerated but did not improve cognition or global function relative to placebo. TRIAL...

  19. Eugenia 'negativa', psiquiatria e catolicismo: embates em torno da esterilização eugênica no Brasil 'Negative' eugenics, psychiatry, and Catholicism: clashes over eugenic sterilization in Brazil

    Directory of Open Access Journals (Sweden)

    Robert Wegner

    2013-03-01

    Full Text Available Analisa o diálogo do eugenista Renato Kehl com um grupo de psiquiatras brasileiros que, no início da década de 1930, aproximaram-se da chamada eugenia negativa. Entusiasmados com as pesquisas e a aplicação de medidas eugênicas em países como os EUA e a Alemanha, autores como Ernani Lopes, Ignácio da Cunha Lopes, Alberto Farani e Antonio Carlos Pacheco e Silva elegeram a religião católica como empecilho para que o Brasil pudesse seguir caminho semelhante, especialmente quanto à resistência à implantação da esterilização dos ditos 'degenerados' que passara a vigorar na Alemanha em 1934. O artigo mapeia as diferentes estratégias propostas pelos autores para dialogar com a Igreja católica.The article analyzes the dialogue between eugenicist Renato Kehl and a group of Brazilian psychiatrists who turned their interest to so-called negative eugenics in the early 1930s. Enthused about research into eugenics and the application of eugenic methods in countries such as the United States and Germany, authors like Ernani Lopes, Ignácio da Cunha Lopes, Alberto Farani, and Antonio Carlos Pacheco e Silva blamed Catholicism for impeding Brazil from moving in a similar direction, especially the church's resistance to the sterilization of 'degenerates', which entered into effect in Germany in 1934. The article charts the various strategies these authors proposed for engaging in dialogue with the Catholic Church.

  20. An Evil Hitherto Unchecked: Eugenics and the 1917 Ontario Royal Commission on the Care and Control of the Mentally Defective and Feeble-Minded.

    Science.gov (United States)

    Koester, C Elizabeth

    2016-01-01

    In 1917, the Ontario government appointed the Royal Commission on the Care and Control of the Mentally Defective and Feeble-Minded, headed by Justice Frank Hodgins. Its final report made wide-ranging recommendations regarding the segregation of feeble-minded individuals, restrictions on marriage, the improvement of psychiatric facilities, and the reform of the court system, all matters of great concern to the eugenics movement. At the same time, however, it refrained from using explicitly eugenic vocabulary and ignored the question of sterilization. This article explores the role the commission played in the trajectory of eugenics in Ontario (including the province's failure to pass sterilization legislation) and considers why its recommendations were disregarded.

  1. A distinct species, Dodona formosana, detected in the Dodona eugenes species complex: clarification of the taxonomic status of the Punch butterfly in Taiwan

    Science.gov (United States)

    Wu, Li-Wei; Lin, Wen-Jie; Hsu, Yu-Feng

    2018-01-01

    Abstract The Tailed Punch, Dodona eugenes, is widely distributed in East Asia with seven subspecies currently recognized. However, two of them, namely ssp. formosana and ssp. esakii found in Taiwan, are hard to distinguish from each other due to ambiguous diagnostic characters. In this study, their taxonomic status is clarified by comparing genitalia characters and phylogenetic relationships based on mitochondrial sequences, COI and COII (total 2211 bps). Our results show that there is no reliable feature to separate these two subspecies. Surprisingly we found that Dodona in Taiwan is more closely related to the Orange Punch, D. egeon, than to other subspecies of D. eugenes. Therefore, the following nomenclatural changes are proposed: Dodona eugenes formosana is revised to specific status as Dodona formosana Matsumura, 1919, stat. rev, and ssp. esakii is sunk to a junior synonym of Dodona formosana syn. n. PMID:29674868

  2. A distinct species, Dodona formosana, detected in the Dodona eugenes species complex: clarification of the taxonomic status of the Punch butterfly in Taiwan

    Directory of Open Access Journals (Sweden)

    Li-Wei Wu

    2018-02-01

    Full Text Available The Tailed Punch, Dodona eugenes, is widely distributed in East Asia with seven subspecies currently recognized. However, two of them, namely ssp. formosana and ssp. esakii found in Taiwan, are hard to distinguish from each other due to ambiguous diagnostic characters. In this study, their taxonomic status is clarified by comparing genitalia characters and phylogenetic relationships based on mitochondrial sequences, COI and COII (total 2211 bps. Our results show that there is no reliable feature to separate these two subspecies. Surprisingly we found that Dodona in Taiwan is more closely related to the Orange Punch, D. egeon, than to other subspecies of D. eugenes. Therefore, the following nomenclatural changes are proposed: Dodona eugenes formosana is revised to specific status as Dodona formosana Matsumura, 1919, stat. rev, and ssp. esakii is sunk to a junior synonym of Dodona formosana syn. n.

  3. In Genes We Trust: Germline Engineering, Eugenics, and the Future of the Human Genome.

    Science.gov (United States)

    Powell, Russell

    2015-12-01

    Liberal proponents of genetic engineering maintain that developing human germline modification technologies is morally desirable because it will result in a net improvement in human health and well-being. Skeptics of germline modification, in contrast, fear evolutionary harms that could flow from intervening in the human germline, and worry that such programs, even if well intentioned, could lead to a recapitulation of the scientifically and morally discredited projects of the old eugenics. Some bioconservatives have appealed as well to the value of retaining our "given" human biological nature as a reason for restraining the development and use of human genetic modification technologies even where they would tend to increase well-being. In this article, I argue that germline intervention will be necessary merely to sustain the levels of genetic health that we presently enjoy for future generations-a goal that should appeal to bioliberals and bioconservatives alike. This is due to the population-genetic consequences of relaxed selection pressures in human populations caused by the increasing efficacy and availability of conventional medicine. This heterodox conclusion, which I present as a problem of intergenerational justice, has been overlooked in medicine and bioethics due to certain misconceptions about human evolution, which I attempt to rectify, as well as the sordid history of Darwinian approaches to medicine and social policy, which I distinguish from the present argument. © The Author 2015. Published by Oxford University Press, on behalf of the Journal of Medicine and Philosophy Inc. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  4. [Eugenics and Discrimination in Colombia: the Role of Medicine and Psychiatry in Immigration Policy at the Beginning of the 20th Century].

    Science.gov (United States)

    Moog, Jaime Carrizosa

    2014-03-01

    With the Theory of Evolution, eugenics had its beginnings during the last decades of the 19th century. Academics discussed the results obtained from their observations, and progressively had influence on the promulgation of laws and norms related to ethnic hygiene and improvement of race. Such principles were the fundamentals to order eugenic and discriminatory laws. Colombia was not outside that discussion and developed immigration laws congruent to that thinking during the first half of the 20th century. Copyright © 2014 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

  5. Polysomnographic Findings and Clinical Correlates in Huntington Disease: A Cross-Sectional Cohort Study

    Science.gov (United States)

    Piano, Carla; Losurdo, Anna; Della Marca, Giacomo; Solito, Marcella; Calandra-Buonaura, Giovanna; Provini, Federica; Bentivoglio, Anna Rita; Cortelli, Pietro

    2015-01-01

    Study Objectives: To evaluate the sleep pattern and the motor activity during sleep in a cohort of patients affected by Huntington disease (HD). Design: Cross-sectional cohort study. Setting: Sleep laboratory. Patients: Thirty HD patients, 16 women and 14 men (mean age 57.3 ± 12.2 y); 30 matched healthy controls (mean age 56.5 ± 11.8 y). Interventions: Subjective sleep evaluation: Epworth Sleepiness Scale (ESS); Berlin's Questionnaire, interview for restless legs syndrome (RLS), questionnaire for REM sleep behavior disorder (RBD). Clinical evaluation: disease duration, clinical severity (unified Huntington disease motor rating scale [UHDMRS]), genetic tests. Laboratory-based full-night attended video-polysomnography (V-PSG). Measurements and Results: The duration of the disease was 9.4 ± 4.4 y, UHMDRS score was 55.5 ± 23.4, CAG repeats were 44.3 ± 4.1. Body mass index was 21.9 ± 4.0 kg/m2. No patients or caregivers reported poor sleep quality. Two patients reported symptoms of RLS. Eight patients had an ESS score ≥ 9. Eight patients had high risk of obstructive sleep apnea. At the RBD questionnaire, two patients had a pathological score. HD patients, compared to controls, showed shorter sleep, reduced sleep efficiency index, and increased arousals and awakenings. Four patients presented with sleep disordered breathing (SDB). Periodic limb movements (PLMs) during wake and sleep were observed in all patients. No episode of RBD was observed in the V-PSG recordings, and no patients showed rapid eye movement (REM) sleep without atonia. The disease duration correlated with ESS score (P Marca G, Solito M, Calandra-Buonaura G, Provini F, Bentivoglio AR, Cortelli P. Polysomnographic findings and clinical correlates in Huntington disease: a cross-sectional cohort study. SLEEP 2015;38(9):1489–1495. PMID:25845698

  6. Nonparametric estimation for censored mixture data with application to the Cooperative Huntington's Observational Research Trial.

    Science.gov (United States)

    Wang, Yuanjia; Garcia, Tanya P; Ma, Yanyuan

    2012-01-01

    This work presents methods for estimating genotype-specific distributions from genetic epidemiology studies where the event times are subject to right censoring, the genotypes are not directly observed, and the data arise from a mixture of scientifically meaningful subpopulations. Examples of such studies include kin-cohort studies and quantitative trait locus (QTL) studies. Current methods for analyzing censored mixture data include two types of nonparametric maximum likelihood estimators (NPMLEs) which do not make parametric assumptions on the genotype-specific density functions. Although both NPMLEs are commonly used, we show that one is inefficient and the other inconsistent. To overcome these deficiencies, we propose three classes of consistent nonparametric estimators which do not assume parametric density models and are easy to implement. They are based on the inverse probability weighting (IPW), augmented IPW (AIPW), and nonparametric imputation (IMP). The AIPW achieves the efficiency bound without additional modeling assumptions. Extensive simulation experiments demonstrate satisfactory performance of these estimators even when the data are heavily censored. We apply these estimators to the Cooperative Huntington's Observational Research Trial (COHORT), and provide age-specific estimates of the effect of mutation in the Huntington gene on mortality using a sample of family members. The close approximation of the estimated non-carrier survival rates to that of the U.S. population indicates small ascertainment bias in the COHORT family sample. Our analyses underscore an elevated risk of death in Huntington gene mutation carriers compared to non-carriers for a wide age range, and suggest that the mutation equally affects survival rates in both genders. The estimated survival rates are useful in genetic counseling for providing guidelines on interpreting the risk of death associated with a positive genetic testing, and in facilitating future subjects at risk

  7. Current status of PET imaging in Huntington's disease

    International Nuclear Information System (INIS)

    Pagano, Gennaro; Niccolini, Flavia; Politis, Marios

    2016-01-01

    To review the developments of recent decades and the current status of PET molecular imaging in Huntington's disease (HD). A systematic review of PET studies in HD was performed. The MEDLINE, Web of Science, Cochrane and Scopus databases were searched for articles in all languages published up to 19 August 2015 using the major medical subject heading ''Huntington Disease'' combined with text and key words ''Huntington Disease'', ''Neuroimaging'' and ''PET''. Only peer-reviewed, primary research studies in HD patients and premanifest HD carriers, and studies in which clinical features were described in association with PET neuroimaging results, were included in this review. Reviews, case reports and nonhuman studies were excluded. A total of 54 PET studies were identified and analysed in this review. Brain metabolism ([ 18 F]FDG and [ 15 O]H 2 O), presynaptic ([ 18 F]fluorodopa, [ 11 C]β-CIT and [ 11 C]DTBZ) and postsynaptic ([ 11 C]SCH22390, [ 11 C]FLB457 and [ 11 C]raclopride) dopaminergic function, phosphodiesterases ([ 18 F]JNJ42259152, [ 18 F]MNI-659 and [ 11 C]IMA107), and adenosine ([ 18 F]CPFPX), cannabinoid ([ 18 F]MK-9470), opioid ([ 11 C]diprenorphine) and GABA ([ 11 C]flumazenil) receptors were evaluated as potential biomarkers for monitoring disease progression and for assessing the development and efficacy of novel disease-modifying drugs in premanifest HD carriers and HD patients. PET studies evaluating brain restoration and neuroprotection were also identified and described in detail. Brain metabolism, postsynaptic dopaminergic function and phosphodiesterase 10A levels were proven to be powerful in assessing disease progression. However, no single technique may be currently considered an optimal biomarker and an integrative multimodal imaging approach combining different techniques should be developed for monitoring potential neuroprotective and preventive treatment

  8. Short G-rich oligonucleotides as a potential therapeutic for Huntington's Disease

    Directory of Open Access Journals (Sweden)

    Parekh-Olmedo Hetal

    2006-10-01

    Full Text Available Abstract Background Huntington's Disease (HD is an inherited autosomal dominant genetic disorder in which neuronal tissue degenerates. The pathogenesis of the disease appears to center on the development of protein aggregates that arise initially from the misfolding of the mutant HD protein. Mutant huntingtin (Htt is produced by HD genes that contain an increased number of glutamine codons within the first exon and this expansion leads to the production of a protein that misfolds. Recent studies suggest that mutant Htt can nucleate protein aggregation and interfere with a multitude of normal cellular functions. Results As such, efforts to find a therapy for HD have focused on agents that disrupt or block the mutant Htt aggregation pathway. Here, we report that short guanosine monotonic oligonucleotides capable of adopting a G-quartet structure, are effective inhibitors of aggregation. By utilizing a biochemical/immunoblotting assay as an initial screen, we identified a 20-mer, all G-oligonucleotide (HDG as an active molecule. Subsequent testing in a cell-based assay revealed that HDG was an effective inhibitor of aggregation of a fusion protein, comprised of a mutant Htt fragment and green fluorescent protein (eGFP. Taken together, our results suggest that a monotonic G-oligonucleotide, capable of adopting a G-quartet conformation is an effective inhibitor of aggregation. This oligonucleotide can also enable cell survival in PC12 cells overexpressing a mutant Htt fragment fusion gene. Conclusion Single-stranded DNA oligonucleotides capable of forming stable G-quartets can inhibit aggregation of the mutant Htt fragment protein. This activity maybe an important part of the pathogenecity of Huntington's Disease. Our results reveal a new class of agents that could be developed as a therapeutic approach for Huntington's Disease.

  9. Psychiatric and cognitive symptoms in Huntington's disease are modified by polymorphisms in catecholamine regulating enzyme genes

    DEFF Research Database (Denmark)

    Vinther-Jensen, T; Nielsen, Troels Tolstrup; Budtz-Jørgensen, E

    2016-01-01

    Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disorder characterized by motor, psychiatric, and cognitive manifestations. HD is caused by a CAG repeat expansion in the Huntingtin (HTT) gene but the exact pathogenesis remains unknown. Dopamine imbalance has......-described cohort of Danish HD gene-expansion carriers. We show that cognitive impairment and psychiatric symptoms in HD are modified by polymorphisms in the monoamine oxidase A (MAOA) and catechol-O-methyltransferase (COMT) genes and by the 4p16.3 B haplotype. These results support the theory of dopamine imbalance...

  10. Derivation of Huntington Disease affected Genea046 human embryonic stem cell line

    Directory of Open Access Journals (Sweden)

    Biljana Dumevska

    2016-03-01

    Full Text Available The Genea046 human embryonic stem cell line was derived from a donated, fully commercially consented ART blastocyst, carrying HTT gene CAG expansion of 45 repeats, indicative of Huntington Disease. Following ICM outgrowth on inactivated human feeders, karyotype was confirmed as 46, XX by CGH and STR analysis demonstrated a female Allele pattern. The hESC line had pluripotent cell morphology, 85% of cells expressed Nanog, 92% Oct4, 75% Tra1–60 and 99% SSEA4 and demonstrated Alkaline Phosphatase activity. The cell line was negative for Mycoplasma and visible contamination.

  11. El papel de la terapia ocupacional en la enfermedad de Huntington

    OpenAIRE

    Hernández Lozano, David; Fernández Hawrylak, María; Grau Rubio, Claudia

    2014-01-01

    se analiza el papel del terapeuta ocupacional en el trabajo con las personas afectadas por la enfermedad de Huntington. se realizó una investigación por objetivos a través del diseño y puesta en práctica de un programa de intervención encaminado a mitigar el deterioro producido por la enfermedad mediante el entrenamiento en actividades de la vida diaria y de estimulación cognitiva, y a desarrollar competencias en la familia. la investigación se desarrolló en la Asociación de corea de Huntingt...

  12. Assessing and Modulating Kynurenine Pathway Dynamics in Huntington's Disease: Focus on Kynurenine 3-Monooxygenase.

    Science.gov (United States)

    Sathyasaikumar, Korrapati V; Breda, Carlo; Schwarcz, Robert; Giorgini, Flaviano

    2018-01-01

    The link between disturbances in kynurenine pathway (KP) metabolism and Huntington's disease (HD) pathogenesis has been explored for a number of years. Several novel genetic and pharmacological tools have recently been developed to modulate key regulatory steps in the KP such as the reaction catalyzed by the enzyme kynurenine 3-monooxygenase (KMO). This insight has offered new options for exploring the mechanistic link between this metabolic pathway and HD, and provided novel opportunities for the development of candidate drug-like compounds. Here, we present an overview of the field, focusing on some novel approaches for interrogating the pathway experimentally.

  13. A Case of Juvenile Huntington Disease in a 6-Year-Old Boy

    Directory of Open Access Journals (Sweden)

    Jun-Sang Sunwoo

    2010-10-01

    Full Text Available Huntington disease is a neurodegenerative disorder distinguished by the triad of dominant inheritance, choreoathetosis and dementia, usually with onset in the fourth and fifth decades. It is caused by an unstable cytosine-adenine-guanine (CAG trinucleotide repeat expansion in the gene IT15 in locus 4p16.3. Juvenile HD that constitutes about 3% to 10% of all patients is clinically different from adult-onset form and characterized by a larger number of CAG repeats typically exceeding 60. We report a case of a 6-year-old boy with myoclonic seizure and 140 CAG repeats confirmed by molecular genetic analysis.

  14. The role of the physician: Eugene Sanger and a standard of care at the Elmira prison camp.

    Science.gov (United States)

    Waggoner, Jesse

    2008-01-01

    The conduct of American military physicians in prisoner of war (POW) camps has been called into question by the abuse scandals at Abu Ghraib and Guantánamo Bay. This essay explores the experiences of the first U.S. military physicians to confront POW patients in large numbers-events that occurred during the American Civil War. While POWs received sub-standard care in camps north and south, the war also saw the issuance of the first document to outline the rights of POWs. This ambivalence toward the proper care and treatment of the POW is evident in the career of Dr. Eugene Sanger, the first Union surgeon at the prison camp in Elmira, New York. Sanger demonstrated both concern about the sanitary condition of the camp and pride in the deaths of POWs as furthering the overall war aims. His cruelty attracted some censure, but Sanger never faced disciplinary action. He was honorably discharged and went on to become the Surgeon General of his home state. This article places his actions at Elmira in the context of medical ethics, Army orders, and Northern opinion in 1864, and it will argue that the lack of Federal response to Eugene Sanger's poor record while serving at the prison set a precedent for inferior medical care of POWs by American military physicians.

  15. Avoiding genetic genocide: understanding good intentions and eugenics in the complex dialogue between the medical and disability communities.

    Science.gov (United States)

    Miller, Paul Steven; Levine, Rebecca Leah

    2013-02-01

    The relationship between the medical and disability communities is complex and is influenced by historical, social, and cultural factors. Although clinicians, health-care researchers, and people with disabilities all work from the standpoint of the best interest of disabled individuals, the notion of what actually is "best" is often understood quite differently among these constituencies. Eugenics campaigns, legal restrictions on reproductive and other freedoms, and prenatal testing recommendations predicated on the lesser worth of persons with disabilities have all contributed toward the historic trauma experienced by the disability community, particularly with respect to medical genetics. One premise of personalized medicine is that different individuals require different solutions. Disabled persons' experiences are a reminder that these solutions can be best realized by maintaining awareness and sensitivity in a complex ethical and moral terrain. Geneticists should recognize that their research may have implications for those with disabilities; they should recognize the impact of the historical trauma of the eugenics movement, and seek to involve people with disabilities in discussions about policies that affect them. Dialogue can be messy and uncomfortable, but it is the only way to avoid the mistakes of the past and to ensure a more equitable, and healthful, future.

  16. The Antiquity in Lyrics by Eugen Malaniuk: Reception and Specifics of Interpretation

    Directory of Open Access Journals (Sweden)

    Oksana Galchuk

    2013-12-01

    Full Text Available The purpose of this article is to determine the reception’s specifics of the Antique text and to observe its role in historiosophy and esthetics of Eugen Malaniuk. Using contact and comparative methods we analyzed his lyrics and elucidated that the author had put in the basis of his poetic historiosophy his comprehension of concepts “Hellas” and “Rome”. In Malaniuk’s interpretation these concepts became the metaphors of past and future of Ukraine (“Polittia”, “Variaz′ka vesna”, “Liuds′ke”, “Epiloh”, “Uryvok”, etc.. Its present he comprehend transforming the antique maxim “world – theatre” (“Teatr, Doba”, “Odyn vechir”, “V maіbutnie”, “Pobachennia”, etc.. This comprehension resulted into quotations in epigraphs and text (“Tertia vigilia”, “Сampus Martius”, “Ars poetica”, “Ave, Caesar…”, “Post scriptum”, etc., reminiscence and allusions of antique plots and motives (“Martivs′ki idy”, “Osinnii Stiks”, “Muza”, “Bezkrovna Muza…”, “Perykl”, etc., explicit (“Prysviatni strofy”, “Doba”, “Bezsonnia”, “Tak dovho buv dvolykyi i dvoiakyi…”, “Nostal′hiia” and implicit (“Proloh” embodiment of “text in text” structure and transformation of the lyrical hero into images of the prototext’s characters (Odysseus, Theseus, Aeneas. The research revealed that transplantation of the antique text by the poet caused the uprise of the “Prague” interpretation variant, distinctive features of which are synthesis of neoclassic and neoromantic perception of the Classic tradition, focus on the Baroque experience of its reception, reading through the historisophical prism. The study “Malaniuk and Antiqity” creates a perspective of separating and researching masculine, Rome’s rationality oriented, with Apollo’s principles domineering (Ol′zhych, Klen; and feminine, with Dionysus’ element prevalence in dialogue with emotional

  17. A Hidden History: A Survey of the Teaching of Eugenics in Health, Social Care and Pedagogical Education and Training Courses in Europe

    Science.gov (United States)

    Atherton, H. L.; Steels, S. L.

    2016-01-01

    Knowledge and understanding of how eugenics has historically affected the lives of people with intellectual disabilities is vital if professionals are to mount an effective defence against its contemporary influences. An online survey of European providers of health, social care and pedagogical education and training courses was undertaken to find…

  18. [Baltic eugenics: Bio-politics, race and nation in interwar Estonia, Latvia and Lithuania 1918-1940] / Raiko Jäärats

    Index Scriptorium Estoniae

    Jäärats, Raiko, 1980-

    2014-01-01

    Arvustus: Baltic eugenics: Bio-politics, race and nation in interwar Estonia, Latvia and Lithuania 1918-1940 (On the boundary of two worlds. identity, fredom and moral imagination in the Baltics, 35). Hrsg. von Björn M. Felder und Paul J. Weindling. Rodopi, Amsterdam u.a. 2013

  19. Continuous deep sedation, physician-assisted suicide, and euthanasia in Huntington's disorder.

    Science.gov (United States)

    Lindblad, Anna; Juth, Niklas; Fürst, Carl Johan; Lynöe, Niels

    2010-11-01

    To investigate the attitudes among Swedish physicians and the general public towards continuous deep sedation (CDS) as an alternative treatment for a competent, not imminently dying patient with Huntington's disorder requesting physician-assisted suicide (PAS) and euthanasia. A questionnaire was distributed to 1200 physicians in Sweden and 1201 individuals in Stockholm. It consisted of three parts: 1) A vignette about a competent patient with Huntington's disease requesting PAS. When no longer competent, relatives request euthanasia on behalf of the patient. Responders were asked about their attitudes towards these requests and whether CDS would be an acceptable alternative. 2) General questions about PAS and euthanasia. 3) Background variables. The response rate was 56% (physicians) and 52% (general public). The majority of the general public and a fairly large proportion of physicians reported more liberal views on CDS than are expressed in current Swedish and international recommendations. In light of the results, we suggest that there is a need for a broader discussion about the recommendations for CDS, with a special focus on the needs of patients with progressive neurodegenerative disorders.

  20. Insights into gait disorders: walking variability using phase plot analysis, Huntington's disease.

    Science.gov (United States)

    Collett, Johnny; Esser, Patrick; Khalil, Hanan; Busse, Monica; Quinn, Lori; DeBono, Katy; Rosser, Anne; Nemeth, Andrea H; Dawes, Helen

    2014-09-01

    Huntington's disease (HD) is a progressive inherited neurodegenerative disorder. Identifying sensitive methodologies to quantitatively measure early motor changes have been difficult to develop. This exploratory observational study investigated gait variability and symmetry in HD using phase plot analysis. We measured the walking of 22 controls and 35 HD gene carriers (7 premanifest (PreHD)), 16 early/mid (HD1) and 12 late stage (HD2) in Oxford and Cardiff, UK. The unified Huntington's disease rating scale-total motor scores (UHDRS-TMS) and disease burden scores (DBS) were used to quantify disease severity. Data was collected during a clinical walk test (8.8 or 10 m) using an inertial measurement unit attached to the trunk. The 6 middle strides were used to calculate gait variability determined by spatiotemporal parameters (co-efficient of variation (CoV)) and phase plot analysis. Phase plots considered the variability in consecutive wave forms from vertical movement and were quantified by SDA (spatiotemporal variability), SDB (temporal variability), ratio ∀ (ratio SDA:SDB) and Δangleβ (symmetry). Step time CoV was greater in manifest HD (p0.05). Phase plot analysis identified differences between manifest HD and controls for SDB, Ratio ∀ and Δangle (all pplot analysis may be a sensitive method of detecting gait changes in HD and can be performed quickly during clinical walking tests. Copyright © 2014 Elsevier B.V. All rights reserved.

  1. Electronic Transport in Single-Stranded DNA Molecule Related to Huntington's Disease

    Science.gov (United States)

    Sarmento, R. G.; Silva, R. N. O.; Madeira, M. P.; Frazão, N. F.; Sousa, J. O.; Macedo-Filho, A.

    2018-04-01

    We report a numerical analysis of the electronic transport in single chain DNA molecule consisting of 182 nucleotides. The DNA chains studied were extracted from a segment of the human chromosome 4p16.3, which were modified by expansion of CAG (cytosine-adenine-guanine) triplet repeats to mimics Huntington's disease. The mutated DNA chains were connected between two platinum electrodes to analyze the relationship between charge propagation in the molecule and Huntington's disease. The computations were performed within a tight-binding model, together with a transfer matrix technique, to investigate the current-voltage (I-V) of 23 types of DNA sequence and compare them with the distributions of the related CAG repeat numbers with the disease. All DNA sequences studied have a characteristic behavior of a semiconductor. In addition, the results showed a direct correlation between the current-voltage curves and the distributions of the CAG repeat numbers, suggesting possible applications in the development of DNA-based biosensors for molecular diagnostics.

  2. Adenyl cyclase activator forskolin protects against Huntington's disease-like neurodegenerative disorders

    Directory of Open Access Journals (Sweden)

    Sidharth Mehan

    2017-01-01

    Full Text Available Long term suppression of succinate dehydrogenase by selective inhibitor 3-nitropropionic acid has been used in rodents to model Huntington's disease where mitochondrial dysfunction and oxidative damages are primary pathological hallmarks for neuronal damage. Improvements in learning and memory abilities, recovery of energy levels, and reduction of excitotoxicity damage can be achieved through activation of Adenyl cyclase enzyme by a specific phytochemical forskolin. In this study, intraperitoneal administration of 10 mg/kg 3-nitropropionic acid for 15 days in rats notably reduced body weight, worsened motor cocordination (grip strength, beam crossing task, locomotor activity, resulted in learning and memory deficits, greatly increased acetylcholinesterase, lactate dehydrogenase, nitrite, and malondialdehyde levels, obviously decreased adenosine triphosphate, succinate dehydrogenase, superoxide dismutase, catalase, and reduced glutathione levels in the striatum, cortex and hippocampus. Intragastric administration of forskolin at 10, 20, 30 mg/kg dose-dependently reversed these behavioral, biochemical and pathological changes caused by 3-nitropropionic acid. These results suggest that forskolin exhibits neuroprotective effects on 3-nitropropionic acid-induced Huntington's disease-like neurodegeneration.

  3. Nonparametric modeling and analysis of association between Huntington's disease onset and CAG repeats.

    Science.gov (United States)

    Ma, Yanyuan; Wang, Yuanjia

    2014-04-15

    Huntington's disease (HD) is a neurodegenerative disorder with a dominant genetic mode of inheritance caused by an expansion of CAG repeats on chromosome 4. Typically, a longer sequence of CAG repeat length is associated with increased risk of experiencing earlier onset of HD. Previous studies of the association between HD onset age and CAG length have favored a logistic model, where the CAG repeat length enters the mean and variance components of the logistic model in a complex exponential-linear form. To relax the parametric assumption of the exponential-linear association to the true HD onset distribution, we propose to leave both mean and variance functions of the CAG repeat length unspecified and perform semiparametric estimation in this context through a local kernel and backfitting procedure. Motivated by including family history of HD information available in the family members of participants in the Cooperative Huntington's Observational Research Trial (COHORT), we develop the methodology in the context of mixture data, where some subjects have a positive probability of being risk free. We also allow censoring on the age at onset of disease and accommodate covariates other than the CAG length. We study the theoretical properties of the proposed estimator and derive its asymptotic distribution. Finally, we apply the proposed methods to the COHORT data to estimate the HD onset distribution using a group of study participants and the disease family history information available on their family members. Copyright © 2013 John Wiley & Sons, Ltd.

  4. [Predictors of mental and physical quality of life in Huntington's disease].

    Science.gov (United States)

    Brugger, F; Hepperger, C; Hametner, E-M; Holl, A K; Painold, A; Schusterschitz, C; Bonelli, R; Holas, C; Wenning, G K; Poewe, W; Seppi, K

    2015-02-01

    The assessment of health-related quality of life (hrQoL) is an important tool in therapy studies and in the treatment of patients with Huntington's disease (HD). In the absence of causal interventions, HD therapy targets the alleviation of symptoms aiming to improve impaired hrQoL. The aim of this study was to determine the impact of disease characteristics on hrQoL in HD. A total of 80 genetically confirmed HD patients underwent an assessment using the Unified Huntington's Disease Rating Scale, the Beck Depression Inventory, the Hamilton Rating Scale and the SF-36, a scale for the assessment of physical and mental QoL. Multiple regression analysis revealed that health-related physical and mental QoL was considerably influenced by the functional capacity. The mental QoL also correlated with the degree of depressive symptoms, age and the number of CAG repeats. However, there was no statistical relation between QoL and motor and cognitive abilities. This study underlines the relationship between function capacity and depressive symptoms with mental and physical QoL. This is the first time that hrQoL has been investigated in a German speaking cohort. The results are in accordance with previous studies of hrQoL in HD.

  5. Neurotensin receptor binding levels in basal ganglia are not altered in Huntington's chorea or schizophrenia

    International Nuclear Information System (INIS)

    Palacios, J.M.; Chinaglia, G.; Rigo, M.; Ulrich, J.; Probst, A.

    1991-01-01

    Autoradiographic techniques were used to examine the distribution and levels of neurotensin receptor binding sites in the basal ganglia and related regions of the human brain. Monoiodo ( 125 I-Tyr3)neurotensin was used as a ligand. High amounts of neurotensin receptor binding sites were found in the substantia nigra pars compacta. Lower but significant quantities of neurotensin receptor binding sites characterized the caudate, putamen, and nucleus accumbens, while very low quantities were seen in both medial and lateral segments of the globus pallidus. In Huntington's chorea, the levels of neurotensin receptor binding sites were found to be comparable to those of control cases. Only slight but not statistically significant decreases in amounts of receptor binding sites were detected in the dorsal part of the head and in the body of caudate nucleus. No alterations in the levels of neurotensin receptor binding sites were observed in the substantia nigra pars compacta and reticulata. These results suggest that a large proportion of neurotensin receptor binding sites in the basal ganglia are located on intrinsic neurons and on extrinsic afferent fibers that do not degenerate in Huntington's disease

  6. Dysfunctional mitochondrial respiration in the striatum of the Huntington's disease transgenic R6/2 mouse model

    DEFF Research Database (Denmark)

    Aidt, Frederik Heurlin; Nielsen, Signe Marie Borch; Kanters, Jørgen

    2013-01-01

    Metabolic dysfunction and mitochondrial involvement are recognised as part of the pathology in Huntington's Disease (HD). Post-mortem examinations of the striatum from end-stage HD patients have shown a decrease in the in vitro activity of complexes II, III and IV of the electron transport system...

  7. Transgenic Rat Model of Huntington's Disease: A Histopathological Study and Correlations with Neurodegenerative Process in the Brain of HD Patients.

    Czech Academy of Sciences Publication Activity Database

    Mazurová, Y.; Anděrová, Miroslava; Němečková, I.; Bezrouk, A.

    2014-01-01

    Roč. 2014, Aug 03 (2014), s. 291531 ISSN 2314-6133 R&D Projects: GA ČR(CZ) GBP304/12/G069 Grant - others:GA MŠk(CZ) Prvouk P37 Institutional support: RVO:68378041 Keywords : Huntington's Disease * neurodegenerative process in the brain Subject RIV: FH - Neurology Impact factor: 1.579, year: 2014

  8. Assessment of motor function, sensory motor gating and recognition memory in a novel BACHD transgenic rat model for Huntington disease

    NARCIS (Netherlands)

    Abada, Yah-se K.; Nguyen, Huu Phuc; Schreiber, Rudy; Ellenbroek, Bart

    2013-01-01

    Rationale: Huntington disease (HD) is frequently first diagnosed by the appearance of motor symptoms; the diagnosis is subsequently confirmed by the presence of expanded CAG repeats (> 35) in the HUNTINGTIN (HTT) gene. A BACHD rat model for HD carrying the human full length mutated HTT with 97

  9. Assessing Impairment of Executive Function and Psychomotor Speed in Premanifest and Manifest Huntington's Disease Gene-expansion Carriers

    DEFF Research Database (Denmark)

    Unmack Larsen, Ida; Vinther-Jensen, Tua; Gade, Anders

    2015-01-01

    Executive functions (EF) and psychomotor speed (PMS) has been widely studied in Huntington's disease (HD). Most studies have focused on finding markers of disease progression by comparing group means at different disease stages. Our aim was to investigate performances on nine measures of EF and PMS...

  10. A genome-scale RNA-interference screen identifies RRAS signaling as a pathologic feature of Huntington's disease.

    Directory of Open Access Journals (Sweden)

    John P Miller

    Full Text Available A genome-scale RNAi screen was performed in a mammalian cell-based assay to identify modifiers of mutant huntingtin toxicity. Ontology analysis of suppressor data identified processes previously implicated in Huntington's disease, including proteolysis, glutamate excitotoxicity, and mitochondrial dysfunction. In addition to established mechanisms, the screen identified multiple components of the RRAS signaling pathway as loss-of-function suppressors of mutant huntingtin toxicity in human and mouse cell models. Loss-of-function in orthologous RRAS pathway members also suppressed motor dysfunction in a Drosophila model of Huntington's disease. Abnormal activation of RRAS and a down-stream effector, RAF1, was observed in cellular models and a mouse model of Huntington's disease. We also observe co-localization of RRAS and mutant huntingtin in cells and in mouse striatum, suggesting that activation of R-Ras may occur through protein interaction. These data indicate that mutant huntingtin exerts a pathogenic effect on this pathway that can be corrected at multiple intervention points including RRAS, FNTA/B, PIN1, and PLK1. Consistent with these results, chemical inhibition of farnesyltransferase can also suppress mutant huntingtin toxicity. These data suggest that pharmacological inhibition of RRAS signaling may confer therapeutic benefit in Huntington's disease.

  11. First molecular modeling report on novel arylpyrimidine kynurenine monooxygenase inhibitors through multi-QSAR analysis against Huntington's disease: A proposal to chemists!

    Science.gov (United States)

    Amin, Sk Abdul; Adhikari, Nilanjan; Jha, Tarun; Gayen, Shovanlal

    2016-12-01

    Huntington's disease (HD) is caused by mutation of huntingtin protein (mHtt) leading to neuronal cell death. The mHtt induced toxicity can be rescued by inhibiting the kynurenine monooxygenase (KMO) enzyme. Therefore, KMO is a promising drug target to address the neurodegenerative disorders such as Huntington's diseases. Fiftysix arylpyrimidine KMO inhibitors are structurally explored through regression and classification based multi-QSAR modeling, pharmacophore mapping and molecular docking approaches. Moreover, ten new compounds are proposed and validated through the modeling that may be effective in accelerating Huntington's disease drug discovery efforts. Copyright © 2016 Elsevier Ltd. All rights reserved.

  12. Periodontitis determining the onset and progression of Huntington's disease: review of the literature

    Directory of Open Access Journals (Sweden)

    María Lourdes Rodríguez Coyago

    2015-10-01

    Full Text Available La enfermedad de Hungtinton es un trastorno neurodegenerativo, causado por la expansión de un triplete de citosina, adenina, guanina en el gen de la huntingtina. Se manifiesta con un deterioro físico, cognitivo y psiquiátrico a distintas edades en el adulto, con un pronóstico fatal. Además del número de repeticiones del triplete, existirían otros factores que explicarían el inicio de esta enfermedad a más temprana edad. Se sabe que la neuroinflamación es un protagonista en los trastornos neurodegenerativos, no siendo la enfermedad de Huntington una excepción. La neuroinflamación exacerba el daño neuronal producido por la mutación, al existir activación aberrante de la célula microglía, disfunción de astrocitos y células dendríticas; compromiso de la barrera hematoencefálica y activación de complemento, todas ellas como efecto directo e indirecto de la mutante y otros estímulos como infecciones crónicas. Es el interés del presente trabajo analizar la periodontitis, como modelo de infección bucodental crónica y fuente de inflamación sistémica. Hipotetizamos que el potencial rol de la periodontitis en la enfermedad de Huntington y los mecanismos por los cuales contribuiría a la manifestación temprana y progreso de dicha enfermedad, para lo cual se consideraron revisiones sistemáticas, metanálisis y estudios experimentales publicados tanto en español como en inglés obtenidos del PubMed y SciELO. Son diversos los mecanismos que generan inflamación en el cerebro de estos pacientes, adquiriendo especial protagonismo los mecanismos de la inmunidad innata. Las infecciones buco dentarias crónicas, como la enfermedad periodontal, pueden constituir un factor exacerbante de la neuroinflamación que per se asocia la enfermedad de Huntington.

  13. Current status of PET imaging in Huntington's disease

    Energy Technology Data Exchange (ETDEWEB)

    Pagano, Gennaro; Niccolini, Flavia; Politis, Marios [King' s College London, Neurodegeneration Imaging Group, Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience (IoPPN), Camberwell, London (United Kingdom)

    2016-06-15

    To review the developments of recent decades and the current status of PET molecular imaging in Huntington's disease (HD). A systematic review of PET studies in HD was performed. The MEDLINE, Web of Science, Cochrane and Scopus databases were searched for articles in all languages published up to 19 August 2015 using the major medical subject heading ''Huntington Disease'' combined with text and key words ''Huntington Disease'', ''Neuroimaging'' and ''PET''. Only peer-reviewed, primary research studies in HD patients and premanifest HD carriers, and studies in which clinical features were described in association with PET neuroimaging results, were included in this review. Reviews, case reports and nonhuman studies were excluded. A total of 54 PET studies were identified and analysed in this review. Brain metabolism ([{sup 18}F]FDG and [{sup 15}O]H{sub 2}O), presynaptic ([{sup 18}F]fluorodopa, [{sup 11}C]β-CIT and [{sup 11}C]DTBZ) and postsynaptic ([{sup 11}C]SCH22390, [{sup 11}C]FLB457 and [{sup 11}C]raclopride) dopaminergic function, phosphodiesterases ([{sup 18}F]JNJ42259152, [{sup 18}F]MNI-659 and [{sup 11}C]IMA107), and adenosine ([{sup 18}F]CPFPX), cannabinoid ([{sup 18}F]MK-9470), opioid ([{sup 11}C]diprenorphine) and GABA ([{sup 11}C]flumazenil) receptors were evaluated as potential biomarkers for monitoring disease progression and for assessing the development and efficacy of novel disease-modifying drugs in premanifest HD carriers and HD patients. PET studies evaluating brain restoration and neuroprotection were also identified and described in detail. Brain metabolism, postsynaptic dopaminergic function and phosphodiesterase 10A levels were proven to be powerful in assessing disease progression. However, no single technique may be currently considered an optimal biomarker and an integrative multimodal imaging approach combining different techniques should be developed

  14. Implementation of Eugene Wigner Training Course at University of 'Politehnica' of Bucharest, Power Engineering Faculty, Nuclear Power Plant Department

    International Nuclear Information System (INIS)

    Ghizdeanu, E.N.

    2004-01-01

    The 'Eugene Wigner' training Course for Reactor Physics Experiments has been supported by the 5th Framework Programme of the European Commission, and it has been integrated in the ENEN (European Nuclear Engineering Network) program. This project has been prepared for the future European Nuclear Education schemes and degrees. Starting from a general presentation of the course this paper presents my opinion as a former student about the course impact. In this paper is written my opinion about the following: The content of theoretical courses; The usefulness of the textbook; The content of the practical experiments; The usefulness of the textbook for the practical experiments, and evaluations. Moreover, parts of this course were implemented to my seminars. Results, expectations and conclusions about the usefulness of the course are presented. (author)

  15. [As the twig is bent, so is the tree inclined: children and the Liga Brasileira de Higiene Mental's eugenic programs].

    Science.gov (United States)

    Reis, J R

    2000-01-01

    Created in the early 1920s, at a moment when the country's psychiatric field was embracing the preventive outlook, the Liga Brasileira de Higiene Mental included within its members the elite of Brazilian psychiatry, along with a number of physicians and intellectuals. The article discusses the institution's proposals for intervention among children. The league ended up incorporating into its theoretical arsenal the basic themes of mental hygiene and eugenics as part of its general goal of collaborating in Brazil's process of "racial sanitation". With this objective in mind, and viewing the child as a "pre-citizen" who is a "fundamental part within the man of the future", league members included the children's issue in their projects and saw an imperative need for mental health care from early ages on.

  16. Modulation at Age of Onset in Tunisian Huntington Disease Patients: Implication of New Modifier Genes

    Directory of Open Access Journals (Sweden)

    Dorra Hmida-Ben Brahim

    2014-01-01

    Full Text Available Huntington’s disease (HD is an autosomal dominant neurodegenerative disorder. The causative mutation is an expansion of more than 36 CAG repeats in the first exon of IT15 gene. Many studies have shown that the IT15 interacts with several modifier genes to regulate the age at onset (AO of HD. Our study aims to investigate the implication of CAG expansion and 9 modifiers in the age at onset variance of 15 HD Tunisian patients and to establish the correlation between these modifiers genes and the AO of this disease. Despite the small number of studied patients, this report consists of the first North African study in Huntington disease patients. Our results approve a specific effect of modifiers genes in each population.

  17. Neuropsychological correlates of brain atrophy in Huntington's disease: a magnetic resonance imaging study

    International Nuclear Information System (INIS)

    Starkstein, S.E.; Brandt, J.; Bylsma, F.; Peyser, C.; Folstein, M.; Folstein, S.E.

    1992-01-01

    Magnetic resonance imaging and a comprehensive cognitive evaluation were carried out in a series of 29 patients with mild to moderate Huntington's disease (HD). A factor analysis of the neuropsychological test scores provided three factors: A memory/speed-of-processing factor, a 'frontal' factor, and a response inhibition factor. The memory/speed factor correlated significantly with measures of caudate atrophy, frontal atrophy, and atrophy of the left (but not the right) sylvian cistern. There were no significant correlations between the 'frontal' or response inhibition factors and measures of cortical or subcortical brain atrophy. Our findings confirm that subcortical atrophy is significantly correlated with specific cognitive deficits in HD, and demonstrate that cortical atrophy also has important association with the cognitive deficits of patients with HD. (orig.)

  18. Liver function in Huntington's disease assessed by blood biochemical analyses in a clinical setting

    DEFF Research Database (Denmark)

    Nielsen, Signe Marie Borch; Vinther-Jensen, Tua; Nielsen, Jørgen E.

    2016-01-01

    dysfunction are seen. Blood levels of a wide range of hormones, metabolites and proteins have been analyzed in HD patients, identifying several changes associated with the disease. However, a comprehensive panel of liver function tests (LFT) has not been performed. We investigated a cohort of manifest......Huntington's disease (HD) is a dominantly inherited, progressive neurological disorder caused by a CAG repeat elongation in the huntingtin gene. In addition to motor-, psychiatric- A nd cognitive dysfunction, peripheral disease manifestations in the form of metabolic changes and cellular...... and premanifest HD gene-expansion carriers and controls, using a clinically applied panel of LFTs. Here, we demonstrate that the level of alkaline phosphatase is increased in manifest HD gene-expansion carriers compared to premanifest HD gene-expansion carriers and correlate with increased disease severity...

  19. Dose-Dependent Lowering of Mutant Huntingtin Using Antisense Oligonucleotides in Huntington Disease Patients.

    Science.gov (United States)

    van Roon-Mom, Willeke M C; Roos, Raymund A C; de Bot, Susanne T

    2018-04-01

    On December 11 of 2017, Ionis Pharmaceuticals published a press release announcing dose-dependent reductions of mutant huntingtin protein in their HTTRx Phase 1/2a study in Huntington disease (HD) patients. The results from this Ionis trial have gained much attention from the patient community and the oligonucleotide therapeutics field, since it is the first trial targeting the cause of HD, namely the mutant huntingtin protein, using antisense oligonucleotides (ASOs). The press release also states that the primary endpoints of the study (safety and tolerability) were met, but does not contain data. This news follows the approval of another therapeutic ASO nusinersen (trade name Spinraza) for a neurological disease, spinal muscular atrophy, by the U.S. Food and Drug Administration and European Medicines Agency, in 2016 and 2017, respectively. Combined, this offers hope for the development of the HTTRx therapy for HD patients.

  20. Map showing selected surface-water data for the Huntington 30 x 60-minute quadrangle, Utah

    Science.gov (United States)

    Price, Don

    1984-01-01

    This is one of a series of maps that describe the geology and related natural resources of the Huntington 30 x 60-minute quadrangle, Utah. Streamflow records used to compile this map were collected by the U.S. Geological Survey in cooperation with the Utah Department of Natural Resources, Division of Water Rights, and the Utah Department of Transportation. The principal runoff-producing area shown on the map was delineated from a work map (scale 1:250,000) compiled to estimate water yields in Utah (Bagley and others, 1964). Sources of information about recorded floods resulting from cloudbursts included Woolley (1946) and Butler and Marsell (1972); sources of information about the chemical quality of streamflow included Mundorff (1972) and Mundorff and Thompson (1982).

  1. Therapeutic strategies for circadian rhythm and sleep disturbances in Huntington disease.

    Science.gov (United States)

    van Wamelen, Daniel J; Roos, Raymund Ac; Aziz, Nasir A

    2015-12-01

    Aside from the well-known motor, cognitive and psychiatric signs and symptoms, Huntington disease (HD) is also frequently complicated by circadian rhythm and sleep disturbances. Despite the observation that these disturbances often precede motor onset and have a high prevalence, no studies are available in HD patients which assess potential treatments. In this review, we will briefly outline the nature of circadian rhythm and sleep disturbances in HD and subsequently focus on potential treatments based on findings in other neurodegenerative diseases with similarities to HD, such as Parkinson and Alzheimer disease. The most promising treatment options to date for circadian rhythm and sleep disruption in HD include melatonin (agonists) and bright light therapy, although further corroboration in clinical trials is warranted.

  2. Age at onset in Huntington's disease: replication study on the association of HAP1.

    Science.gov (United States)

    Karadima, Georgia; Dimovasili, Christina; Koutsis, Georgios; Vassilopoulos, Demetris; Panas, Marios

    2012-11-01

    In recent years two association studies investigating the HAP1 T441M (rs4523977) polymorphism as a potential modifying factor of the age at onset (AAO) of Huntington's disease (HD), have been reported. Initially evidence for association was found between the M441 risk allele and the AAO. Subsequently, a second study, although failing to replicate these findings, found evidence for association between the same risk allele and AAO of motor symptoms (mAAO). In the present study, the role of the HAP1 T441M polymorphism as a modifier of the AAO in HD was investigated in a cohort of 298 Greek HD patients. In this cohort the CAG repeat number accounted for 55% of the variance in AAO. No association was found between the HAP1 T441M polymorphism and the AAO of HD. © 2012 Elsevier Ltd. All rights reserved.

  3. Brain energy metabolism and dopaminergic function in Huntington's disease measured in vivo using positron emission tomography

    International Nuclear Information System (INIS)

    Leenders, K.L.; Frackowiak, R.S.; Quinn, N.; Marsden, C.D.

    1986-01-01

    A 48-year-old man with typical Huntington's disease was investigated with computed tomography (CT) and positron emission tomography. Regional cerebral blood flow, oxygen extraction, oxygen and glucose utilization, L-Dopa uptake, and dopamine (D2) receptor binding were measured using several positron-labelled tracers. CT showed slight atrophy of the head of caudate but no cortical atrophy, although distinct frontal lobe dysfunction was present on psychometric testing. Oxygen and glucose metabolism and cerebral blood flow were decreased in the striata and to a lesser extent in frontal cortex. Cerebral blood flow was in the low normal range throughout the remainder of the brain. A normal metabolic ratio was found in all regions, since the changes in glucose utilization paralleled those in oxygen consumption. The capacity of the striatum to store dopamine as assessed by L-[ 18 F]-fluorodopa uptake was normal, but dopamine (D2) receptor binding was decreased when compared to normal subjects

  4. Tics as an initial manifestation of juvenile Huntington's disease: case report and literature review.

    Science.gov (United States)

    Cui, Shi-Shuang; Ren, Ru-Jing; Wang, Ying; Wang, Gang; Chen, Sheng-Di

    2017-08-08

    Huntington's disease (HD) is an autosomal dominant disorder, typically characterized by chorea due to a trinucleotide repeat expansion in the HTT gene, although the clinical manifestations of patients with juvenile HD (JHD) are atypical. A 17-year-old boy with initial presentation of tics attended our clinic and his DNA analysis demonstrated mutation in the HTT gene (49 CAG repeats). After treatment, his symptoms improved. Furthermore, we performed literature review through searching the databases and summarized clinical features in 33 JHD patients. The most prevalent symptoms are ataxia, and two cases reported that tics as initial and prominent manifestation in JHD. Among them, 88% patients carried CAG repeats beyond 60 and most of them have family history. This case here illustrates the variable range of clinical symptoms of JHD and the necessity of testing for the HD mutation in young patients with tics with symptoms unable to be explained by Tourette's syndrome (TS).

  5. Social Cognition, Executive Functions and Self-Report of Psychological Distress in Huntington's Disease

    DEFF Research Database (Denmark)

    Larsen, Ida Unmack; Vinther-Jensen, Tua; Nielsen, Jørgen Erik

    2016-01-01

    OBJECTIVE: Huntington's disease (HD) is characterized by motor symptoms, psychiatric symptoms and cognitive impairment in, inter alia, executive functions and social cognition. The aim of this study was to investigate the relationship between subjective feeling of psychological distress using...... a self-report questionnaire and performances on tests of executive functions and social cognition in a large consecutive cohort of HD patients. METHOD: 50 manifest HD patients were tested in social cognition and executive functions and each answered a self-report questionnaire about current status...... psychological distress was significantly associated with worse performances on social cognitive tests (mean absolute correlation .34) and that there were no significant correlations between perceived psychological distress and performance on tests of executive functions. The correlations between perceived...

  6. Oxidative Stress and Huntington's Disease: The Good, The Bad, and The Ugly.

    Science.gov (United States)

    Kumar, Amit; Ratan, Rajiv R

    2016-10-01

    Redox homeostasis is crucial for proper cellular functions, including receptor tyrosine kinase signaling, protein folding, and xenobiotic detoxification. Under basal conditions, there is a balance between oxidants and antioxidants. This balance facilitates the ability of oxidants, such as reactive oxygen species, to play critical regulatory functions through a direct modification of a small number of amino acids (e.g. cysteine) on signaling proteins. These signaling functions leverage tight spatial, amplitude, and temporal control of oxidant concentrations. However, when oxidants overwhelm the antioxidant capacity, they lead to a harmful condition of oxidative stress. Oxidative stress has long been held to be one of the key players in disease progression for Huntington's disease (HD). In this review, we will critically review this evidence, drawing some intermediate conclusions, and ultimately provide a framework for thinking about the role of oxidative stress in the pathophysiology of HD.

  7. Aerial gamma ray and magnetic survey, Huntington quadrangle: Ohio, West Virginia and Kentucky. Final report

    International Nuclear Information System (INIS)

    1981-04-01

    The Huntington quadrangle of Kentucky, Ohio, and West Virginia covers 7250 square miles of the easternmost Midwestern Physiographic Province. Paleozoic exposures dominate the surface. These Paleozoics deepen toward the east from approximately 500 feet to a maximum depth of 8000 feet. Precambrian basement is thought to underlie the entire area. No known uranium deposits exist in the area. One hundred anomalies were found using the standard statistical analysis. Some high uranium concentration anomalies that may overlie the stratigraphic equivalent of the Devonian-Mississippian New Albany or Chattanooga Shales may represent significant levels of naturally occurring uranium. Future studies should concentrate on this unit. Magnetic data are largely in concurrence with existing structural interpretations but suggest some complexities in the underlying Precambrian

  8. Is gardening a stimulating activity for people with advanced Huntington's disease?

    Science.gov (United States)

    Spring, Josephine A; Viera, Marc; Bowen, Ceri; Marsh, Nicola

    2014-11-01

    This study evaluated adapted gardening as an activity for people with advanced Huntington's disease (HD) and explored its therapeutic aspects. Visitors and staff completed a questionnaire and participated in structured interviews to capture further information, whereas a pictorial questionnaire was designed for residents with communication difficulties. Staff reported that gardening was a constructive, outdoor activity that promoted social interaction, physical activity including functional movement and posed cognitive challenges. Half the staff thought the activity was problem free and a third used the garden for therapy. Visitors used the garden to meet with residents socially. Despite their disabilities, HD clients enjoyed growing flourishing flowers and vegetables, labelling plants, being outside in the sun and the quiet of the garden. The garden is valued by all three groups. The study demonstrates the adapted method of gardening is a stimulating and enjoyable activity for people with advanced HD. © The Author(s) 2013 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

  9. Gardening with Huntington's disease clients--creating a programme of winter activities.

    Science.gov (United States)

    Spring, Josephine Anne; Baker, Mark; Dauya, Loreane; Ewemade, Ivie; Marsh, Nicola; Patel, Prina; Scott, Adrienne; Stoy, Nicholas; Turner, Hannah; Viera, Marc; Will, Diana

    2011-01-01

    A programme of garden-related indoor activities was developed to sustain a gardening group for people with mid to late stage Huntington's disease during the winter. The activities were devised by the horticulturist, working empirically, involving the services occupational therapist, physiotherapist, occupational therapy art technician, computer room, recreation and leisure staff. The programme was strongly supported by the nursing and care staff. Feedback on the effectiveness of the activities was sought from the clients, team members and unit staff. The clients' interest in gardening was sustained by a multidisciplinary programme of indoor growing and using plant products in creative activities, computing and group projects. The clients enjoyed all activities except one that they said lacked contact with plants. The inexpensive programme of activities enabled creativity and self-expression, stimulated social contact and helped with therapeutic goals of the clients. In addition, it engaged the multi-disciplinary team and the unit staff, was practical and enhanced the environment.

  10. The functional implications of motor, cognitive, psychiatric, and social problem-solving states in Huntington's disease.

    Science.gov (United States)

    Van Liew, Charles; Gluhm, Shea; Goldstein, Jody; Cronan, Terry A; Corey-Bloom, Jody

    2013-01-01

    Huntington's disease (HD) is a genetic, neurodegenerative disorder characterized by motor, cognitive, and psychiatric dysfunction. In HD, the inability to solve problems successfully affects not only disease coping, but also interpersonal relationships, judgment, and independent living. The aim of the present study was to examine social problem-solving (SPS) in well-characterized HD and at-risk (AR) individuals and to examine its unique and conjoint effects with motor, cognitive, and psychiatric states on functional ratings. Sixty-three participants, 31 HD and 32 gene-positive AR, were included in the study. Participants completed the Social Problem-Solving Inventory-Revised: Long (SPSI-R:L), a 52-item, reliable, standardized measure of SPS. Items are aggregated under five scales (Positive, Negative, and Rational Problem-Solving; Impulsivity/Carelessness and Avoidance Styles). Participants also completed the Unified Huntington's Disease Rating Scale functional, behavioral, and cognitive assessments, as well as additional neuropsychological examinations and the Symptom Checklist-90-Revised (SCL-90R). A structural equation model was used to examine the effects of motor, cognitive, psychiatric, and SPS states on functionality. The multifactor structural model fit well descriptively. Cognitive and motor states uniquely and significantly predicted function in HD; however, neither psychiatric nor SPS states did. SPS was, however, significantly related to motor, cognitive, and psychiatric states, suggesting that it may bridge the correlative gap between psychiatric and cognitive states in HD. SPS may be worth assessing in conjunction with the standard gamut of clinical assessments in HD. Suggestions for future research and implications for patients, families, caregivers, and clinicians are discussed.

  11. Somatostatin receptor 1 and 5 double knockout mice mimic neurochemical changes of Huntington's disease transgenic mice.

    Directory of Open Access Journals (Sweden)

    Padmesh S Rajput

    Full Text Available Selective degeneration of medium spiny neurons and preservation of medium sized aspiny interneurons in striatum has been implicated in excitotoxicity and pathophysiology of Huntington's disease (HD. However, the molecular mechanism for the selective sparing of medium sized aspiny neurons and vulnerability of projection neurons is still elusive. The pathological characteristic of HD is an extensive reduction of the striatal mass, affecting caudate putamen. Somatostatin (SST positive neurons are selectively spared in HD and Quinolinic acid/N-methyl-D-aspartic acid induced excitotoxicity, mimic the model of HD. SST plays neuroprotective role in excitotoxicity and the biological effects of SST are mediated by five somatostatin receptor subtypes (SSTR1-5.To delineate subtype selective biological responses we have here investigated changes in SSTR1 and 5 double knockout mice brain and compared with HD transgenic mouse model (R6/2. Our study revealed significant loss of dopamine and cAMP regulated phosphoprotein of 32 kDa (DARPP-32 and comparable changes in SST, N-methyl-D-aspartic acid receptors subtypes, calbindin and brain nitric oxide synthase expression as well as in key signaling proteins including calpain, phospho-extracellular-signal-regulated kinases1/2, synapsin-IIa, protein kinase C-α and calcineurin in SSTR1/5(-/- and R6/2 mice. Conversely, the expression of somatostatin receptor subtypes, enkephalin and phosphatidylinositol 3-kinases were strain specific. SSTR1/5 appears to be important in regulating NMDARs, DARPP-32 and signaling molecules in similar fashion as seen in HD transgenic mice.This is the first comprehensive description of disease related changes upon ablation of G- protein coupled receptor gene. Our results indicate that SST and SSTRs might play an important role in regulation of neurodegeneration and targeting this pathway can provide a novel insight in understanding the pathophysiology of Huntington's disease.

  12. R6/2 Huntington's disease mice develop early and progressive abnormal brain metabolism and seizures.

    Science.gov (United States)

    Cepeda-Prado, Efrain; Popp, Susanna; Khan, Usman; Stefanov, Dimitre; Rodríguez, Jorge; Menalled, Liliana B; Dow-Edwards, Diana; Small, Scott A; Moreno, Herman

    2012-05-09

    A hallmark feature of Huntington's disease pathology is the atrophy of brain regions including, but not limited to, the striatum. Though MRI studies have identified structural CNS changes in several Huntington's disease (HD) mouse models, the functional consequences of HD pathology during the progression of the disease have yet to be investigated using in vivo functional MRI (fMRI). To address this issue, we first established the structural and functional MRI phenotype of juvenile HD mouse model R6/2 at early and advanced stages of disease. Significantly higher fMRI signals [relative cerebral blood volumes (rCBVs)] and atrophy were observed in both age groups in specific brain regions. Next, fMRI results were correlated with electrophysiological analysis, which showed abnormal increases in neuronal activity in affected brain regions, thus identifying a mechanism accounting for the abnormal fMRI findings. [(14)C] 2-deoxyglucose maps to investigate patterns of glucose utilization were also generated. An interesting mismatch between increases in rCBV and decreases in glucose uptake was observed. Finally, we evaluated the sensitivity of this mouse line to audiogenic seizures early in the disease course. We found that R6/2 mice had an increased susceptibility to develop seizures. Together, these findings identified seizure activity in R6/2 mice and show that neuroimaging measures sensitive to oxygen metabolism can be used as in vivo biomarkers, preceding the onset of an overt behavioral phenotype. Since fMRI-rCBV can also be obtained in patients, we propose that it may serve as a translational tool to evaluate therapeutic responses in humans and HD mouse models.

  13. Huntington's Disease

    Science.gov (United States)

    ... monitor a disease) for HD. A large and related NINDS-supported study aims to identify additional genetic factors in people that influence the course of the disease. Other research hopes to identify variations in the genomes of individuals with HD that may point to new targets ...

  14. Variance of the SGK1 gene is associated with insulin secretion in different European populations: results from the TUEF, EUGENE2, and METSIM studies

    DEFF Research Database (Denmark)

    Friedrich, Björn; Weyrich, Peter; Stancáková, Alena

    2008-01-01

    gene (SGK) variations and insulin secretion traits. The German TUEF project provided the screening population (N = 725), and four tagging SNPs (rs1763527, rs1743966, rs1057293, rs9402571) were investigated. EUGENE2 (N = 827) served as a replication cohort for the detected associations. Finally...... secretion only remained significant in lean TUEF participants (BMIEUGENE2 rs9402571 minor allele carriers, who had a significantly higher AUC(Ins)/AUC(Glc) (TT: 226+/-7, XG: 246+/-9; p = 0.019). Accordingly, the METSIM trial revealed a lower prevalence of type...... 2 diabetes (OR: 0.85; 95%CI: 0.71-1.01; p = 0.065, dominant model) in rs9402571 minor allele carriers. CONCLUSIONS: The rs9402571 SGK genotype associates with increased insulin secretion in lean non-diabetic TUEF/EUGENE2 participants and with lower diabetes prevalence in METSIM. Our study in three...

  15. Género, cuerpo, gimnasia y sexualidad en los manuales educacionales higienistas y eugenésicos en Chile, 1870-1938

    Directory of Open Access Journals (Sweden)

    Manuel Durán Sandoval

    2015-03-01

    Full Text Available Este artículo aborda la conformación de un discurso eugenésico positivo heredero de las teorías higienistas ambientalistas y raciales de finales del siglo XIX. Esta tendencia se consolidó entre 1925 a 1938 con la conformación de una estructura institucional y programas de corte social con fuertes matices eugenésicos positivos, considerando el cuerpo y el “carácter” de la juventud como amalgama de la nación.En este contexto se desarrollaron desde fines del siglo XIX tentativas por constituir una medicina pública que propulsara un programa de educación y preservación de la juventud. Estas iniciativas de corte ambientalista pretendían potenciar las aptitudes física y morales de los jóvenes mediante planes de alimentación, higiene y gimnasia

  16. Glucose transportation in the brain and its impairment in Huntington disease: one more shade of the energetic metabolism failure?

    Science.gov (United States)

    Morea, Veronica; Bidollari, Eris; Colotti, Gianni; Fiorillo, Annarita; Rosati, Jessica; De Filippis, Lidia; Squitieri, Ferdinando; Ilari, Andrea

    2017-07-01

    Huntington's disease (HD) or Huntington's chorea is the most common inherited, dominantly transmitted, neurodegenerative disorder. It is caused by increased CAG repeats number in the gene coding for huntingtin (Htt) and characterized by motor, behaviour and psychiatric symptoms, ultimately leading to death. HD patients also exhibit alterations in glucose and energetic metabolism, which result in pronounced weight loss despite sustained calorie intake. Glucose metabolism decreases in the striatum of all the subjects with mutated Htt, but affects symptom presentation only when it drops below a specific threshold. Recent evidence points at defects in glucose uptake by the brain, and especially by neurons, as a relevant component of central glucose hypometabolism in HD patients. Here we review the main features of glucose metabolism and transport in the brain in physiological conditions and how these processes are impaired in HD, and discuss the potential ability of strategies aimed at increasing intracellular energy levels to counteract neurological and motor degeneration in HD patients.

  17. Study of protein O-GlcNAcylation in the brain tissue in Huntington´s disease

    Czech Academy of Sciences Publication Activity Database

    Ondrušková, N.; Rodinová, M.; Kratochvílová, H.; Klempíř, J.; Roth, J.; Motlík, Jan; Radoslav, M.; Zeman, J.; Hansíková, H.

    2015-01-01

    Roč. 78, Suppl 2 (2015), s. 20-20 ISSN 1210-7859. [Conference on Animal Models for neurodegenerative Diseases /3./. 08.11.2015-10.11.2015, Liblice] R&D Projects: GA MŠk(CZ) 7F14308; GA MŠk ED2.1.00/03.0124 Institutional support: RVO:67985904 Keywords : Huntington ´s disease * glycosylation * N-acetylglucosamine Subject RIV: FH - Neurology

  18. Pre-clinical evaluation of AAV5-miHTT gene therapy of Huntington´s disease

    Czech Academy of Sciences Publication Activity Database

    Konstantinová, P.; Miniarikova, J.; Blits, B.; Zimmer, V.; Spoerl, A.; Southwell, A.; Hayden, M.; van Deventer, S.; Deglon, N.; Motlík, Jan; Juhás, Štefan; Juhásová, Jana; Richard, Ch.; Petry, H.

    2015-01-01

    Roč. 78, Supl 2 (2015), s. 8-8 ISSN 1210-7859. [Conference on Animal Models for neurodegenerative Diseases /3./. 08.11.2015-10.11.2015, Liblice] R&D Projects: GA MŠk ED2.1.00/03.0124 Institutional support: RVO:67985904 Keywords : Huntington ´s disease * gene therapy * AAV5-miHTT Subject RIV: EB - Genetics ; Molecular Biology

  19. Decreased mitochondrial density and ultrastructural changes of mitochondria in cultivated skin fibroblasts of patients with Huntington´s disease

    Czech Academy of Sciences Publication Activity Database

    Rodinová, M.; Marková, M.; Kratochvílová, H.; Kučerová, I.; Tesařová, M.; Lišková, Irena; Klempíř, J.; Roth, J.; Zeman, J.; Hansíková, H.

    2015-01-01

    Roč. 78, Suppl 2 (2015), s. 20-21 ISSN 1210-7859. [Conference on Animal Models for neurodegenerative Diseases /3./. 08.11.2015-10.11.2015, Liblice] R&D Projects: GA MŠk ED2.1.00/03.0124; GA MŠk(CZ) 7F14308 Institutional support: RVO:67985904 Keywords : Huntington ´s disease * fibroblasts * mitochondrial ultrastructure Subject RIV: FH - Neurology

  20. Siberis ellujäämisest saab ETV ekraanil dramaatiline telesari / Kärt Anvelt ; kommenteerinud Eugen Tamberg ja Urmas Voolpriit

    Index Scriptorium Estoniae

    Anvelt, Kärt, 1973-

    2010-01-01

    2012. aastal jõuab ekraanile 12-osaline ajalooline telesari tööpealkirjaga "Siber", mis tähistab 70 aasta möödumist eestlaste esimesest küüditamisest 14. juunil 1941. Sarja lavastaja Merle Karusoo, stsenaristid Merle Karusoo ja Katrin Saukas. Võtterühma peagi algavast sõidust Siberisse Tomski oblastisse, reisist valmib dokumentaalfilm. Kommenteerivad kunstnik Eugen Tamberg ja helirežissöör Urmas Voolpriit

  1. Alpha-7 nicotinic acetylcholine receptor agonist treatment in a rat model of Huntington's disease and involvement of heme oxygenase-1

    Directory of Open Access Journals (Sweden)

    Laura Foucault-Fruchard

    2018-01-01

    Full Text Available Neuroinflammation is a common element involved in the pathophysiology of neurodegenerative diseases. We recently reported that repeated alpha-7 nicotinic acetylcholine receptor (α7nAChR activations by a potent agonist such as PHA 543613 in quinolinic acid-injured rats exhibited protective effects on neurons. To further investigate the underlying mechanism, we established rat models of early-stage Huntington's disease by injection of quinolinic acid into the right striatum and then intraperitoneally injected 12 mg/kg PHA 543613 or sterile water, twice a day during 4 days. Western blot assay results showed that the expression of heme oxygenase-1 (HO-1, the key component of the cholinergic anti-inflammatory pathway, in the right striatum of rat models of Huntington's disease subjected to intraperitoneal injection of PHA 543613 for 4 days was significantly increased compared to the control rats receiving intraperitoneal injection of sterile water, and that the increase in HO-1 expression was independent of change in α7nAChR expression. These findings suggest that HO-1 expression is unrelated to α7nAChR density and the increase in HO-1 expression likely contributes to α7nAChR activation-related neuroprotective effect in early-stage Huntington's disease.

  2. A hidden history: A survey of the teaching of eugenics in health, social care and pedagogical education and training courses in Europe.

    Science.gov (United States)

    Atherton, H L; Steels, S L

    2016-12-01

    Knowledge and understanding of how eugenics has historically affected the lives of people with intellectual disabilities is vital if professionals are to mount an effective defence against its contemporary influences. An online survey of European providers of health, social care and pedagogical education and training courses was undertaken to find out how the history of eugenics is taught to those wishing to work in services for people with intellectual disabilities. Two hundred and six educational providers were contacted with a response rate of 35.9% (n = 74). Findings showed that the majority of educational providers recognize the importance of including the history of eugenics in their courses, although fewer feel confident that it is sufficiently well covered to prepare future professionals for their role as protector. Course content differs on both the emphasis given to the different components of this history, time dedicated to its delivery and the extent to which it is used to inform legal and ethical debate. Specific recommendations for developing the way in which this subject area is taught are outlined. © The Author(s) 2015.

  3. Luis Huerta: eugenesia, medicina y pedagogía en España Luis Huerta: Eugenics, Medicine and Pedagogy in Spain

    Directory of Open Access Journals (Sweden)

    Luis Miguel LÁZARO LORENTE

    2013-07-01

    Full Text Available En contraste con lo observable en la historiografía de otros países europeos y anglosajones, el estudio de la introducción y difusión de los principios y prácticas de la Eugenesia, como tema de investigación, no ha contado en España con muchos cultivadores. Menos todavía han sido objeto de estudio las relaciones del pensamiento eugénico con el ámbito pedagógico para indagar la recepción que tiene entre el Magisterio, y conocer el conjunto de reacciones que provoca, así como la participación de los maestros en la potencial difusión de sus planteamientos. Se aborda aquí una aproximación a ese tema centrando el análisis en las relaciones que en la España del primer tercio del siglo XX se establecen entre Medicina, Pedagogía y Eugenesia. Para ello tomamos como referente e hilo conductor la figura y el pensamiento del maestro asturiano Luis Huerta Naves, decidido impulsor y propagandista incansable de la Eugenesia en nuestro país.By comparison with the historiography of other European and Anglo-Saxon countries, the study of the origins and spread of Eugenics in Spain has not received much attention. Even less research has been done on the degree of acceptance of eugenic thought in the pedagogical domain or on the role teachers may have in the diffusion of eugenics. This paper attempts to explore the subject while focusing the analysis on the relations that were established among Medicine, Pedagogy and Eugenics in Spain during the first third of the 20th century. We will take as a point of reference and guiding line of thought the figure of the Asturian teacher Luis Huerta Naves, who was the driving force and tireless advocate of the eugenics movement in our country.

  4. Association Between Motor Symptoms and Brain Metabolism in Early Huntington Disease.

    Science.gov (United States)

    Gaura, Véronique; Lavisse, Sonia; Payoux, Pierre; Goldman, Serge; Verny, Christophe; Krystkowiak, Pierre; Damier, Philippe; Supiot, Frédéric; Bachoud-Levi, Anne-Catherine; Remy, Philippe

    2017-09-01

    Brain hypometabolism is associated with the clinical consequences of the degenerative process, but little is known about regional hypermetabolism, sometimes observed in the brain of patients with clinically manifest Huntington disease (HD). Studying the role of regional hypermetabolism is needed to better understand its interaction with the motor symptoms of the disease. To investigate the association between brain hypometabolism and hypermetabolism with motor scores of patients with early HD. This study started in 2001, and analysis was completed in 2016. Sixty symptomatic patients with HD and 15 healthy age-matched control individuals underwent positron emission tomography to measure cerebral metabolism in this cross-sectional study. They also underwent the Unified Huntington's Disease Rating Scale motor test, and 2 subscores were extracted: (1) a hyperkinetic score, combining dystonia and chorea, and (2) a hypokinetic score, combining bradykinesia and rigidity. Statistical parametric mapping software (SPM5) was used to identify all hypo- and hypermetabolic regions in patients with HD relative to control individuals. Correlation analyses (P motor subscores and brain metabolic values were performed for regions with significant hypometabolism and hypermetabolism. Among 60 patients with HD, 22 were women (36.7%), and the mean (SD) age was 44.6 (7.6) years. Of the 15 control individuals, 7 were women (46.7%), and the mean (SD) age was 42.2 (7.3) years. In statistical parametric mapping, striatal hypometabolism was significantly correlated with the severity of all motor scores. Hypermetabolism was negatively correlated only with hypokinetic scores in the cuneus (z score = 3.95, P motor scores were associated with higher metabolic values in the inferior parietal lobule, anterior cingulate, inferior temporal lobule, the dentate nucleus, and the cerebellar lobules IV/V, VI, and VIII bilaterally corresponding to the motor regions of the cerebellum (z score = 3

  5. Striatal hypometabolism in premanifest and manifest Huntington's disease patients

    Energy Technology Data Exchange (ETDEWEB)

    Lopez-Mora, Diego Alfonso; Camacho, Valle; Fernandez, Alejandro; Montes, Alberto; Carrio, Ignasi [Autonomous University of Barcelona, Nuclear Medicine Department, Hospital Sant Pau, Barcelona (Spain); Perez-Perez, Jesus; Martinez-Horta, Sauel; Kulisevsky, Jaime [Autonomous University of Barcelona, Movement Disorders Unit, Neurology Department, Hospital Sant Pau, Barcelona (Spain); Sampedro, Frederic [University of Barcelona, Barcelona (Spain); Lozano-Martinez, Gloria Andrea; Gomez-Anson, Beatriz [Autonomous University of Barcelona, Neuroradiology, Radiology Department, Hospital Sant Pau, Barcelona (Spain)

    2016-11-15

    To assess metabolic changes in cerebral {sup 18}F-FDG PET/CT in premanifest and manifest Huntington's disease (HD) subjects compared to a control group and to correlate {sup 18}F-FDG uptake patterns with different disease stages. Thirty-three gene-expanded carriers (Eight males; mean age: 43 y/o; CAG > 39) were prospectively included. Based on the Unified Huntington's Disease Rating Scale Total Motor Score and the Total Functional Capacity, subjects were classified as premanifest (preHD = 15) and manifest (mHD = 18). Estimated time disease-onset was calculated using the Langbehn formula, which allowed classifying preHD as far-to (preHD-A) and close-to (PreHD-B) disease-onset. Eighteen properly matched participants were included as a control group (CG). All subjects underwent brain {sup 18}F-FDG PET/CT and MRI. {sup 18}F-FDG PET/CT were initially assessed by two nuclear medicine physicians identifying qualitative metabolic changes in the striatum. Quantitative analysis was performed using SPM8 with gray matter atrophy correction using the BPM toolbox. Visual analysis showed a marked striatal hypometabolism in mHD. A normal striatal distribution of {sup 18}F-FDG uptake was observed for most of the preHD subjects. Quantitative analysis showed a significant striatal hypometabolism in mHD subjects compared to CG (p < 0.001 uncorrected, k = 50 voxels). In both preHD groups we observed a significant striatal hypometabolism with respect to CG (p < 0.001 uncorrected, k = 50 voxels). In mHD subjects we observed a significant striatal hypometabolism with respect to both preHD groups (p < 0.001 uncorrected, k = 50 voxels). {sup 18}F-FDG PET/CT might be a helpful tool to identify patterns of glucose metabolism in the striatum across the stages of HD and might be relevant in assessing the clinical status of gene-expanded HD carriers due to the fact that dysfunctional glucose metabolism begins at early preHD stages of the disease. {sup 18}F-FDG PET/CT appears as a

  6. Health-related quality of life and unmet healthcare needs in Huntington's disease.

    Science.gov (United States)

    van Walsem, Marleen R; Howe, Emilie I; Ruud, Gunvor A; Frich, Jan C; Andelic, Nada

    2017-01-07

    Huntington's disease (HD) is a rare neurodegenerative disorder with a prevalence of 6 per 100.000. Despite increasing research activity on HD, evidence on healthcare utilization, patients' needs for healthcare services and Health-Related Quality of Life (HRQoL) is still sparse. The present study describes HRQoL in a Norwegian cohort of HD patients, and assesses associations between unmet healthcare and social support service needs and HRQoL. In this cross-sectional population-based study, 84 patients with a clinical diagnosis of HD living in the South-East of Norway completed the HRQoL questionnaire EuroQol, EQ-5D-3L. Unmet needs for healthcare and social support services were assessed by the Needs and Provision Complexity Scale (NPCS). Furthermore, functional ability was determined using the Unified Huntington's Disease Rating Scale (UHDRS) Functional assessment scales. Socio-demographics (age, gender, marital status, occupation, residence, housing situation) and clinical characteristics (disease duration, total functional capacity, comorbidity) were also recorded. Descriptive statistics were used to describe the patients' HRQoL. Regression analyses were conducted in order to investigate the relationship between unmet healthcare needs and self-reported HRQoL. The patients were divided across five disease stages as follows: Stage I: n = 12 (14%), Stage II: n = 22 (27%), Stage III: n = 19 (23%), Stage IV: n = 14 (16%), and Stage V: n = 17 (20%). Overall HRQoL was lowest in patients with advanced disease (Stages IV and V), while patients in the middle phase (Stage III) showed the most varied health profile for the five EQ-5D-3L dimensions. The regression model including level of unmet needs, clinical characteristics and demographics (age and education) accounted for 42% of variance in HRQoL. A higher level of unmet needs was associated with lower HRQoL (β value - 0.228; p = 0.018) whereas a better total functional capacity corresponded to

  7. On the concept of eugenics: preliminaries to a critical appraisal Sobre o conceito de eugenia: preliminares à uma avaliação crítica

    Directory of Open Access Journals (Sweden)

    Demetrio Neri

    1999-01-01

    Full Text Available This paper's main issue is linked to what can be foreseen as the increasing capability of medical genetics to modify the genetic composition of the human species through direct interventions in the human genome for medical and non-medical purposes, i.e., the 'risk' of a resurgence of eugenics. In current discussions on the topic (briefly presented in the first section, the 'phantom of eugenics' is raised several times, but there is a great deal of confusion on what counts as eugenics, partly because of broad conceptual disagreement over the notion itself. Furthermore, according to some scholars there is no hope of overcoming this unsatisfactory conceptual uncertainty. Partly challenging this opinion, the second and third sections of this paper attempt to identify some basic features which could be seen as intrinsically linked to the notion of eugenics, with the aim of reducing the range of conceptual disagreement as a preliminary step in bringing into focus what exactly is wrong with practicing eugenics. The subsequent sections deal with the substantive issue of whether or not to practice eugenics from the point of view of the interest of future generations in the human species' genetic composition. The main moral arguments for and against eugenics are examined from the point of view of our obligations towards future generations, and the conclusion is in favor of a cautious 'open-door' position.O ponto principal desse artigo está vinculado ao que pode ser antevisto como a crescente capacidade da genética médica de modificar a espécie humana por meio de intervenções diretas no genoma humano com propósitos médicos e não médicos, isto é, o risco do ressurgimento da eugenia. Nas atuais discussões sobre o tópico, o fantasma da eugenia é levantado diversas vezes, mas há grande confusão no que se refere ao que é considerado como eugenia, particularmente em razão da ampla discordância sobre a noção em si. Procura-se identificar

  8. VIOLENT BLACK MAN AND THE MYTH OF BLACK MACHO IN EUGENE O’NEILL’S "THE DREAMY KID"

    Directory of Open Access Journals (Sweden)

    Agnieszka Łobodziec

    2014-10-01

    Full Text Available The aim of this article is the investigation of the extent to which Eugene O’Neill, in his drama "The Dreamy Kid", (reconstructs, or employs, the black macho myth, which negatively images black men as marginalized and violent. This undertaking questions O’Neill’s self-proclaimed progressive racial attitudes and stated focus on the universal nature of human existence, which he professed to express through drama. Moreover, the article challenges the mainstream view of "The Dreamy Kid" as progressive. Although the play focalizes the experience of a marginalized black man, which could be interpreted as the playwright’s concern with the unjust racial and class stratification of American society, O’Neill’s production, unfortunately, contains a number of pervasive stereotypes relative to black people’s alleged moral degeneracy, primitiveness, and violent behavior, which threatens the white dominated constructed order. In terms of gendered racial politics, in the article attention is given to O’Neill’s presentation of black male negotiations with the white patriarchal power structure, embodied by the police forces, and with black matriarchy, represented by O’Neill’s stereotypical character portrayal of a dominant elderly black woman. Lastly, an overall analysis is performed in light of the call for an autonomous black art, which emerged among black artists in opposition to the demeaning, unrealistic, stereotypical portrayals of black victims of oppression by white American writers.

  9. Prostitutes and criminals: beginnings of eugenics in Croatia in the works of Fran Gundrum from Oriovac (1856-1919).

    Science.gov (United States)

    Kuhar, Martin; Fatović-Ferencić, Stella

    2012-04-01

    Fran Gundrum (1856-1919) was a Croatian physician, encyclopedist, and an advocate of medical enlightenment and healthy lifestyle. In order to identify and analyze Gundrum's ideas about the problems of prostitution and criminality, we studied all of his books, booklets, and articles published between 1905 and 1914. We showed that Gundrum's theories of heredity, morality, and sexual hygiene incorporated many of the important discussions of his time, especially those related to the Darwinian paradigm. Gundrum's project of collecting statistics on prostitutes was the first such study published on the territory of today's Croatia. Although he rejected the notions of born prostitutes and born criminals, defended by Italian criminal anthropologist Cesare Lombroso, he still regarded eugenics as a convenient method of dealing with the ills of society. He believed that criminals were degenerate individuals representing a violent threat to the society and that it was legitimate to use radical means, such as sterilization and deportation, to deal with this problem. Organicistic view of the society prevented him from seeing the individual rights as important as that of the society to protect itself. Nevertheless, this view led to many humanistic ideas, such as the binomial illness/poverty in case of prostitution, which influenced many prominent works of social medicine movement.

  10. Visualizing the context of citations referencing papers published by Eugene Garfield: a new type of keyword co-occurrence analysis.

    Science.gov (United States)

    Bornmann, Lutz; Haunschild, Robin; Hug, Sven E

    2018-01-01

    During Eugene Garfield's (EG's) lengthy career as information scientist, he published about 1500 papers. In this study, we use the impressive oeuvre of EG to introduce a new type of bibliometric networks: keyword co-occurrences networks based on the context of citations, which are referenced in a certain paper set (here: the papers published by EG). The citation context is defined by the words which are located around a specific citation. We retrieved the citation context from Microsoft Academic. To interpret and compare the results of the new network type, we generated two further networks: co-occurrence networks which are based on title and abstract keywords from (1) EG's papers and (2) the papers citing EG's publications. The comparison of the three networks suggests that papers of EG and citation contexts of papers citing EG are semantically more closely related to each other than to titles and abstracts of papers citing EG. This result accords with the use of citations in research evaluation that is based on the premise that citations reflect the cognitive influence of the cited on the citing publication.

  11. Six psychotropics for pre-symptomatic & early Alzheimer's (MCI, Parkinson's, and Huntington's disease modification

    Directory of Open Access Journals (Sweden)

    Edward C Lauterbach

    2016-01-01

    Full Text Available The quest for neuroprotective drugs to slow the progression of neurodegenerative diseases (NDDs, including Alzheimer's disease (AD, Parkinson's disease (PD, and Huntington's disease (HD, has been largely unrewarding. Preclinical evidence suggests that repurposing quetiapine, lithium, valproate, fluoxetine, donepezil, and memantine for early and pre-symptomatic disease-modification in NDDs may be promising and can spare regulatory barriers. The literature of these psychotropics in early stage and pre-symptomatic AD, PD, and HD is reviewed and propitious findings follow. Mild cognitive impairment (MCI phase of AD: salutary human randomized controlled trial findings for low-dose lithium and, in selected patients, donepezil await replication. Pre-symptomatic AD: human epidemiological data indicate that lithium reduces AD risk. Animal model studies (AMS reveal encouraging results for quetiapine, lithium, donepezil, and memantine. Early PD: valproate AMS findings show promise. Pre-symptomatic PD: lithium and valproate AMS findings are encouraging. Early HD: uncontrolled clinical data indicate non-progression with lithium, fluoxetine, donepezil, and memantine. Pre-symptomatic HD: lithium and valproate are auspicious in AMS. Many other promising findings awaiting replication (valproate in MCI; lithium, valproate, fluoxetine in pre-symptomatic AD; lithium in early PD; lithium, valproate, fluoxetine in pre-symptomatic PD; donepezil in early HD; lithium, fluoxetine, memantine in pre-symptomatic HD are reviewed. Dose- and stage-dependent effects are considered. Suggestions for signal-enhancement in human trials are provided for each NDD stage.

  12. β-Defensin genomic copy number does not influence the age of onset in Huntington's Disease.

    Science.gov (United States)

    Vittori, Angelica; Orth, Michael; Roos, Raymund A C; Outeiro, Tiago F; Giorgini, Flaviano; Hollox, Edward J

    2013-01-01

    Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by the abnormal expansion of a CAG triplet repeat tract in the huntingtin gene. While the length of this CAG expansion is the major determinant of the age of onset (AO), other genetic factors have also been shown to play a modulatory role. Recent evidence suggests that neuroinflammations is a pivotal factor in the pathogenesis of HD, and that targeting this process may have important therapeutic ramifications. The human β-defensin 2 (hBD2)- encoded by DEFB4- is an antimicrobial peptide that exhibits inducible expression in astrocytes during inflammation and is an important regulator of innate and adaptive immune response. Therefore, DEFB4 may contribute to the neuroinflammatory processes observed in HD. In this study we tested the hypothesis that copy number variation (CNV) of the β-defensin region, including DEFB4, modifies the AO in HD. We genotyped β-defensin CNV in 490 HD individuals using the paralogue ratio test and found no association between β-defensin CNV and onset of HD. We conclude that it is unlikely that DEFB4 plays a role in HD pathogenesis.

  13. Families Affected by Huntington's Disease Report Difficulties in Communication, Emotional Involvement, and Problem Solving.

    Science.gov (United States)

    Jona, Celine M H; Labuschagne, Izelle; Mercieca, Emily-Clare; Fisher, Fiona; Gluyas, Cathy; Stout, Julie C; Andrews, Sophie C

    2017-01-01

    Family functioning in Huntington's disease (HD) is known from previous studies to be adversely affected. However, which aspects of family functioning are disrupted is unknown, limiting the empirical basis around which to create supportive interventions. The aim of the current study was to assess family functioning in HD families. We assessed family functioning in 61 participants (38 HD gene-expanded participants and 23 family members) using the McMaster Family Assessment Device (FAD; Epstein, Baldwin and Bishop, 1983), which provides scores for seven domains of functioning: Problem Solving; Communication; Affective Involvement; Affective Responsiveness; Behavior Control; Roles; and General Family Functioning. The most commonly reported disrupted domain for HD participants was Affective Involvement, which was reported by 39.5% of HD participants, followed closely by General Family Functioning (36.8%). For family members, the most commonly reported dysfunctional domains were Affective Involvement and Communication (both 52.2%). Furthermore, symptomatic HD participants reported more disruption to Problem Solving than pre-symptomatic HD participants. In terms of agreement between pre-symptomatic and symptomatic HD participants and their family members, all domains showed moderate to very good agreement. However, on average, family members rated Communication as more disrupted than their HD affected family member. These findings highlight the need to target areas of emotional engagement, communication skills and problem solving in family interventions in HD.

  14. Test-Retest Reliability of Diffusion Tensor Imaging in Huntington's Disease.

    Science.gov (United States)

    Cole, James H; Farmer, Ruth E; Rees, Elin M; Johnson, Hans J; Frost, Chris; Scahill, Rachael I; Hobbs, Nicola Z

    2014-03-21

    Diffusion tensor imaging (DTI) has shown microstructural abnormalities in patients with Huntington's Disease (HD) and work is underway to characterise how these abnormalities change with disease progression. Using methods that will be applied in longitudinal research, we sought to establish the reliability of DTI in early HD patients and controls. Test-retest reliability, quantified using the intraclass correlation coefficient (ICC), was assessed using region-of-interest (ROI)-based white matter atlas and voxelwise approaches on repeat scan data from 22 participants (10 early HD, 12 controls). T1 data was used to generate further ROIs for analysis in a reduced sample of 18 participants. The results suggest that fractional anisotropy (FA) and other diffusivity metrics are generally highly reliable, with ICCs indicating considerably lower within-subject compared to between-subject variability in both HD patients and controls. Where ICC was low, particularly for the diffusivity measures in the caudate and putamen, this was partly influenced by outliers. The analysis suggests that the specific DTI methods used here are appropriate for cross-sectional research in HD, and give confidence that they can also be applied longitudinally, although this requires further investigation. An important caveat for DTI studies is that test-retest reliability may not be evenly distributed throughout the brain whereby highly anisotropic white matter regions tended to show lower relative within-subject variability than other white or grey matter regions.

  15. A Case of Attempted Suicide in Huntington's Disease: Ethical and Moral Considerations.

    Science.gov (United States)

    Furfari, Kristin; Zehnder, Nichole; Abbott, Jean

    2016-01-01

    A 62-year-old female with Huntington's disease presented after a suicide attempt. Her advance directive stated that she did not want intubation or resuscitation, which her family acknowledged and supported. Despite these directives, she was resuscitated in the emergency department and continued to state that she would attempt suicide again. Her suicidality in the face of a chronic and advancing illness, and her prolonged consistency in her desire to take her own life, left careproviders wondering how to provide ethical, respectful care to this patient. Tension between the ethical principles of autonomy and beneficence is central in this case. The patient's narrative demonstrated that her suicide was an autonomous decision, free from coercion or disordered thinking from mental illness. Beneficence then would seem to necessitate care aligned with the patient's desire to end her life, which created ethical uneasiness for her family and careproviders. The case highlights several end-of-life ethical considerations that have received much recent attention. With ongoing discussions about the legalization of aid in dying across the country, caregivers are challenged to understand what beneficence means in people with terminal illnesses who want a say in their death. This case also highlights the profound moral distress of families and careproviders that arises in such ethically challenging scenarios. Copyright 2016 The Journal of Clinical Ethics. All rights reserved.

  16. A monoclonal antibody TrkB receptor agonist as a potential therapeutic for Huntington's disease.

    Directory of Open Access Journals (Sweden)

    Daniel Todd

    Full Text Available Huntington's disease (HD is a devastating, genetic neurodegenerative disease caused by a tri-nucleotide expansion in exon 1 of the huntingtin gene. HD is clinically characterized by chorea, emotional and psychiatric disturbances and cognitive deficits with later symptoms including rigidity and dementia. Pathologically, the cortico-striatal pathway is severely dysfunctional as reflected by striatal and cortical atrophy in late-stage disease. Brain-derived neurotrophic factor (BDNF is a neuroprotective, secreted protein that binds with high affinity to the extracellular domain of the tropomyosin-receptor kinase B (TrkB receptor promoting neuronal cell survival by activating the receptor and down-stream signaling proteins. Reduced cortical BDNF production and transport to the striatum have been implicated in HD pathogenesis; the ability to enhance TrkB signaling using a BDNF mimetic might be beneficial in disease progression, so we explored this as a therapeutic strategy for HD. Using recombinant and native assay formats, we report here the evaluation of TrkB antibodies and a panel of reported small molecule TrkB agonists, and identify the best candidate, from those tested, for in vivo proof of concept studies in transgenic HD models.

  17. The Medicinal Chemistry of Natural and Semisynthetic Compounds against Parkinson's and Huntington's Diseases.

    Science.gov (United States)

    Zanforlin, Enrico; Zagotto, Giuseppe; Ribaudo, Giovanni

    2017-11-15

    Among the diseases affecting the central nervous system (CNS), neurodegenerations attract the interest of both the clinician and the medicinal chemist. The increasing average age of population, the growing number of patients, and the lack of long-term effective remedies push ahead the quest for novel tools against this class of pathologies. We present a review on the state of the art of the molecules (or combination of molecules) of natural origin that are currently under study against two well-defined pathologies: Parkinson's disease (PD) and Huntington's disease (HD). Nowadays, very few tools are available for preventing or counteracting the progression of such diseases. Two major parameters were considered for the preparation of this review: particular attention was reserved to these research works presenting well-defined molecular mechanisms for the studied compounds, and where available, papers reporting in vivo data were preferred. A literature search for peer-reviewed articles using PubMed, Scopus, and Reaxys databases was performed, exploiting different keywords and logical operators: 91 papers were considered (preferentially published after 2015). The review presents a brief overview on the etiology of the studied neurodegenerations and the current treatments, followed by a detailed discussion of the natural and semisynthetic compounds dividing them in different paragraphs considering their several mechanisms of action.

  18. Preventing mutant huntingtin proteolysis and intermittent fasting promote autophagy in models of Huntington disease.

    Science.gov (United States)

    Ehrnhoefer, Dagmar E; Martin, Dale D O; Schmidt, Mandi E; Qiu, Xiaofan; Ladha, Safia; Caron, Nicholas S; Skotte, Niels H; Nguyen, Yen T N; Vaid, Kuljeet; Southwell, Amber L; Engemann, Sabine; Franciosi, Sonia; Hayden, Michael R

    2018-03-06

    Huntington disease (HD) is caused by the expression of mutant huntingtin (mHTT) bearing a polyglutamine expansion. In HD, mHTT accumulation is accompanied by a dysfunction in basal autophagy, which manifests as specific defects in cargo loading during selective autophagy. Here we show that the expression of mHTT resistant to proteolysis at the caspase cleavage site D586 (C6R mHTT) increases autophagy, which may be due to its increased binding to the autophagy adapter p62. This is accompanied by faster degradation of C6R mHTT in vitro and a lack of mHTT accumulation the C6R mouse model with age. These findings may explain the previously observed neuroprotective properties of C6R mHTT. As the C6R mutation cannot be easily translated into a therapeutic approach, we show that a scheduled feeding paradigm is sufficient to lower mHTT levels in YAC128 mice expressing cleavable mHTT. This is consistent with a previous model, where the presence of cleavable mHTT impairs basal autophagy, while fasting-induced autophagy remains functional. In HD, mHTT clearance and autophagy may become increasingly impaired as a function of age and disease stage, because of gradually increased activity of mHTT-processing enzymes. Our findings imply that mHTT clearance could be enhanced by a regulated dietary schedule that promotes autophagy.

  19. Monomeric, Oligomeric and Polymeric Proteins in Huntington Disease and Other Diseases of Polyglutamine Expansion

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    Guylaine Hoffner

    2014-03-01

    Full Text Available Huntington disease and other diseases of polyglutamine expansion are each caused by a different protein bearing an excessively long polyglutamine sequence and are associated with neuronal death. Although these diseases affect largely different brain regions, they all share a number of characteristics, and, therefore, are likely to possess a common mechanism. In all of the diseases, the causative protein is proteolyzed, becomes abnormally folded and accumulates in oligomers and larger aggregates. The aggregated and possibly the monomeric expanded polyglutamine are likely to play a critical role in the pathogenesis and there is increasing evidence that the secondary structure of the protein influences its toxicity. We describe here, with special attention to huntingtin, the mechanisms of polyglutamine aggregation and the modulation of aggregation by the sequences flanking the polyglutamine. We give a comprehensive picture of the characteristics of monomeric and aggregated polyglutamine, including morphology, composition, seeding ability, secondary structure, and toxicity. The structural heterogeneity of aggregated polyglutamine may explain why polyglutamine-containing aggregates could paradoxically be either toxic or neuroprotective.

  20. Diffusion tensor imaging of brain white matter in Huntington gene mutation individuals

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    Roberta Arb Saba

    Full Text Available ABSTRACT Objective To evaluate the role of the involvement of white matter tracts in huntingtin gene mutation patients as a potential biomarker of the progression of the disease. Methods We evaluated 34 participants (11 symptomatic huntingtin gene mutation, 12 presymptomatic huntingtin gene mutation, and 11 controls. We performed brain magnetic resonance imaging to assess white matter integrity using diffusion tensor imaging, with measurement of fractional anisotropy. Results We observed a significant decrease of fractional anisotropy in the cortical spinal tracts, corona radiate, corpus callosum, external capsule, thalamic radiations, superior and inferior longitudinal fasciculus, and inferior frontal-occipital fasciculus in the Huntington disease group compared to the control and presymptomatic groups. Reduction of fractional anisotropy is indicative of a degenerative process and axonal loss. There was no statistically significant difference between the presymptomatic and control groups. Conclusion White matter integrity is affected in huntingtin gene mutation symptomatic individuals, but other studies with larger samples are required to assess its usefulness in the progression of the neurodegenerative process.

  1. Positron emission tomographic scan investigations of Huntington's disease: cerebral metabolic correlates of cognitive function

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    Berent, S.; Giordani, B.; Lehtinen, S.; Markel, D.; Penney, J.B.; Buchtel, H.A.; Starosta-Rubinstein, S.; Hichwa, R.; Young, A.B.

    1988-01-01

    Fifteen drug-free patients with early to mid-stage Huntington's disease (HD) were evaluated with positron emission tomographic (PET) scans of 18 F-2-fluoro-2-deoxy-D-glucose uptake and quantitative measures of neurological function, learning, memory, and general intelligence. In comparison with a group of normal volunteers, the HD patients showed lower metabolism in both caudate (p less than 0.001) and putamen (p less than 0.001) on PET scans. A significant and positive relationship was found between neuropsychological measures of verbal learning and memory and caudate metabolism in the patient group but not in the normal group. Visual-spatial learning did not reflect a similar pattern, but performance intelligence quotient was positively related to both caudate and putamen metabolism in the HD group. Vocabulary level was unrelated to either brain structure. Discussion focuses on these and other observed brain-behavior relationships and on the implications of these findings for general behaviors such as those involved in coping and adaptation

  2. Protein regulation of induced pluripotent stem cells by transplanting in a Huntington's animal model.

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    Mu, S; Han, L; Zhou, G; Mo, C; Duan, J; He, Z; Wang, Z; Ren, L; Zhang, J

    2016-10-01

    The purpose of this study was to determine the functional recovery and protein regulation by transplanted induced pluripotent stem cells in a rat model of Huntington's disease (HD). In a quinolinic acid-induced rat model of striatal degeneration, induced pluripotent stem cells were transplanted into the ipsilateral lateral ventricle 10 days after the quinolinic acid injection. At 8 weeks after transplantation, fluorodeoxyglucose-PET/CT scan and balance-beam test were performed to evaluate the functional recovery of experimental rats. In addition, immunofluorescence and protein array analysis were used to investigate the regulation of stimulated protein expression in the striatum. At 8 weeks after induced pluripotent stem cell transplantation, motor function was improved in comparison with the quinolinic acid-treated rats. High fluorodeoxyglucose accumulation in the injured striatum was also observed by PET/CT scans. In addition, immunofluorescence analysis demonstrated that implanted cells migrated from the lateral ventricle into the lesioned striatum and differentiated into striatal projection neurons. Array analysis showed a significant upregulation of GFR (Glial cell line-derived neurotrophic factor receptor) alpha-1, Adiponectin/Acrp30, basic-fibroblast growth factors, MIP-1 (Macrophage-inflammatory protein) alpha and leptin, as well as downregulation of cytokine-induced neutrophil chemoattractant-3 in striatum after transplantatation of induced pluripotent stem cells in comparison with the quinolinic acid -treated rats. The findings in this work indicate that transplantation of induced pluripotent stem cells is a promising therapeutic candidate for HD. © 2016 British Neuropathological Society.

  3. PARP-1 Inhibition Is Neuroprotective in the R6/2 Mouse Model of Huntington's Disease.

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    Antonella Cardinale

    Full Text Available Poly (ADP-ribose polymerase 1 (PARP-1 is a nuclear enzyme that is involved in physiological processes as DNA repair, genomic stability, and apoptosis. Moreover, published studies demonstrated that PARP-1 mediates necrotic cell death in response to excessive DNA damage under certain pathological conditions. In Huntington's disease brains, PARP immunoreactivity was described in neurons and in glial cells, thereby suggesting the involvement of apoptosis in HD. In this study, we sought to determine if the PARP-1 inhibitor exerts a neuroprotective effect in R6/2 mutant mice, which recapitulates, in many aspects, human HD. Transgenic mice were treated with the PARP-1 inhibitor INO-1001 mg/Kg daily starting from 4 weeks of age. After transcardial perfusion, histological and immunohistochemical studies were performed. We found that INO 1001-treated R6/2 mice survived longer and displayed less severe signs of neurological dysfunction than the vehicle treated ones. Primary outcome measures such as striatal atrophy, morphology of striatal neurons, neuronal intranuclear inclusions and microglial reaction confirmed a neuroprotective effect of the compound. INO-1001 was effective in significantly increasing activated CREB and BDNF in the striatal spiny neurons, which might account for the beneficial effects observed in this model. Our findings show that PARP-1 inhibition could be considered as a valid therapeutic approach for HD.

  4. Care of patients with Huntington's disease in South America: a survey

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    Ricardo Oliveira Horta Maciel

    2013-06-01

    Full Text Available Huntington's disease (HD is a rare neurodegenerative disease with a multitude of symptoms, which requires access to specialized multidisciplinary care for adequate management. The aim of this study was to survey the characteristics of care in various HD centers in South America (SA. Methods A questionnaire was sent to 24 centers involved in the care for HD patients in SA. Results Of the total 24 centers, 19 (79.2% are academic units. The majority of centers (62.5% are general movement disorders clinics. Multidisciplinary care is available in 19 (79.2% centers and in 20 (83.3% care is provided free of charge. Genetic testing and counseling are available in 25 and 66.6% of centers, respectively. The majority of centers (83.3% have no institutional support for end-stage care. Conclusions Although HD centers in SA are committed to providing multidisciplinary care, access to genetic counseling and end-stage care are lacking in most centers.

  5. Moral landscapes and everyday life in families with Huntington's disease: aligning ethnographic description and bioethics.

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    Huniche, Lotte

    2011-06-01

    This article is concerned with understanding moral aspects of everyday life in families with Huntington's Disease (HD). It draws on findings from an empirical research project in Denmark in 1998-2002 involving multi-sited ethnography to argue that medical genetics provides a particular framework for conducting life in an HD family. A framework that implies that being informed and making use of genetic services expresses greater moral responsibility than conducting life without drawing on these resources. The moral imperative of engagement in medical genetics is challenged here by two pieces of ethnographic analysis. The first concerns a person who, as described by a family member, does not engage with medical genetics but who brings to the fore other culturally legitimate concerns, priorities and areas of responsibility. The second figures a genetic counselling session where neither the knowledge nor the imagined solutions of medical genetics are as unproblematic and straightforward as might be thought. To assist our understanding of the moral aspects of living with severe familial disease, the ethnographic analysis is aligned with bioethical reflections that place the concrete concerns of those personally involved centre stage in the development of theoretical stances that aim to assist reflections in practice. Copyright © 2010 Elsevier Ltd. All rights reserved.

  6. Evaluating Recall and Recognition Memory Using the Montreal Cognitive Assessment: Applicability for Alzheimer's and Huntington's Diseases.

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    Van Liew, Charles; Santoro, Maya S; Goldstein, Jody; Gluhm, Shea; Gilbert, Paul E; Corey-Bloom, Jody

    2016-12-01

    We sought to investigate whether the Montreal Cognitive Assessment (MoCA) could provide a brief assessment of recall and recognition using Huntington disease (HD) and Alzheimer disease (AD) as disorders characterized by different memory deficits. This study included 80 participants with HD, 64 participants with AD, and 183 community-dwelling control participants. Random-effects hierarchical logistic regressions were performed to assess the relative performance of the normal control (NC), participants with HD, and participants with AD on verbal free recall, cued recall, and multiple-choice recognition on the MoCA. The NC participants performed significantly better than participants with AD at all the 3 levels of assessment. No difference existed between participants with HD and NC for cued recall, but NC participants performed significantly better than participants with HD on free recall and recognition. The participants with HD performed significantly better than participants with AD at all the 3 levels of assessment. The MoCA appears to be a valuable, brief cognitive assessment capable of identifying specific memory deficits consistent with known differences in memory profiles. © The Author(s) 2016.

  7. Nanopublications for exposing experimental data in the life-sciences: a Huntington's Disease case study.

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    Mina, Eleni; Thompson, Mark; Kaliyaperumal, Rajaram; Zhao, Jun; der Horst, van Eelke; Tatum, Zuotian; Hettne, Kristina M; Schultes, Erik A; Mons, Barend; Roos, Marco

    2015-01-01

    Data from high throughput experiments often produce far more results than can ever appear in the main text or tables of a single research article. In these cases, the majority of new associations are often archived either as supplemental information in an arbitrary format or in publisher-independent databases that can be difficult to find. These data are not only lost from scientific discourse, but are also elusive to automated search, retrieval and processing. Here, we use the nanopublication model to make scientific assertions that were concluded from a workflow analysis of Huntington's Disease data machine-readable, interoperable, and citable. We followed the nanopublication guidelines to semantically model our assertions as well as their provenance metadata and authorship. We demonstrate interoperability by linking nanopublication provenance to the Research Object model. These results indicate that nanopublications can provide an incentive for researchers to expose data that is interoperable and machine-readable for future use and preservation for which they can get credits for their effort. Nanopublications can have a leading role into hypotheses generation offering opportunities to produce large-scale data integration.

  8. Echolalia or functional repetition in conversation--a case study of an individual with Huntington's disease.

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    Saldert, Charlotta; Hartelius, Lena

    2011-01-01

    In this case study, we investigated the use of repetition in an individual with a neurogenic communication disorder. We present an analysis of interaction in natural conversations between a woman with advanced Huntington's disease (HD), whose speech had been described as sometimes characterised by echolalia, and her personal assistant. The conversational interaction is analysed on a sequential level, and recurrent patterns are explored. Although the ability of the person with HD to interact is affected by chorea, word retrieval problems and reduced comprehension, she takes an active part in conversation. The conversational partner's contributions are often adapted to her communicative ability as they are formulated as questions or suggestions that can be elaborated on or responded to with a simple 'yes' or 'no'. The person with HD often repeats the words of her conversational partner in a way that extends her contributions and shows listenership, and this use of repetition is also frequent in ordinary conversations between non-brain-damaged individuals. The results show that the conversation partners in this case cooperate in making the conversation proceed and evolve, and that verbal repetition is used in a way that works as a strategy for compensating for the impairment.

  9. Clinical utility of FDG-PET in amyotrophic lateral sclerosis and Huntington's disease.

    Science.gov (United States)

    Agosta, Federica; Altomare, Daniele; Festari, Cristina; Orini, Stefania; Gandolfo, Federica; Boccardi, Marina; Arbizu, Javier; Bouwman, Femke; Drzezga, Alexander; Nestor, Peter; Nobili, Flavio; Walker, Zuzana; Pagani, Marco

    2018-05-01

    To evaluate the incremental value of FDG-PET over clinical tests in: (i) diagnosis of amyotrophic lateral sclerosis (ALS); (ii) picking early signs of neurodegeneration in patients with a genetic risk of Huntington's disease (HD); and detecting metabolic changes related to cognitive impairment in (iii) ALS and (iv) HD patients. Four comprehensive literature searches were conducted using the PICO model to extract evidence from relevant studies. An expert panel then voted using the Delphi method on these four diagnostic scenarios. The availability of evidence was good for FDG-PET utility to support the diagnosis of ALS, poor for identifying presymptomatic subjects carrying HD mutation who will convert to HD, and lacking for identifying cognitive-related metabolic changes in both ALS and HD. After the Delphi consensual procedure, the panel did not support the clinical use of FDG-PET for any of the four scenarios. Relative to other neurodegenerative diseases, the clinical use of FDG-PET in ALS and HD is still in its infancy. Once validated by disease-control studies, FDG-PET might represent a potentially useful biomarker for ALS diagnosis. FDG-PET is presently not justified as a routine investigation to predict conversion to HD, nor to detect evidence of brain dysfunction justifying cognitive decline in ALS and HD.

  10. Beyond the patient: the broader impact of genetic discrimination among individuals at risk of Huntington disease.

    Science.gov (United States)

    Bombard, Yvonne; Palin, JoAnne; Friedman, Jan M; Veenstra, Gerry; Creighton, Susan; Bottorff, Joan L; Hayden, Michael R

    2012-03-01

    We aimed to address gaps in current understanding of the scope and impact of discrimination, by examining a cohort of individuals at-risk for Huntington disease (HD), to describe the prevalence of concern for oneself and one's family in multiple domains; strategies used to mitigate discrimination; and the extent to which concerns relate to experiences. We conducted a cross-sectional survey of 293 individuals at-risk for HD (80% response rate); 167 respondents were genetically tested and 66 were not. Fear of discrimination was widespread (86%), particularly in the insurance, family and social settings. Approximately half of concerned individuals experienced discrimination (40-62%, depending on genetic status). Concern was associated with "keeping quiet" about one's risk of HD or "taking action to avoid" discrimination. Importantly, concern was highly distressing for some respondents (21% for oneself; 32% for relatives). Overall, concerned respondents with high education levels, who discovered their family history at a younger age, and those who were mutation-positive were more likely to report experiences of discrimination than others who were concerned. Concerns were rarely attributed to genetic test results alone. Concern about genetic discrimination is frequent among individuals at-risk of HD and spans many settings. It influences behavioral patterns and can result in high levels of self-rated distress, highlighting the need for practice and policy interventions. © 2012 Wiley Periodicals, Inc. Copyright © 2012 Wiley Periodicals, Inc.

  11. Personality traits in Huntington's disease: An exploratory study of gene expansion carriers and non-carriers.

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    Larsen, Ida Unmack; Mortensen, Erik Lykke; Vinther-Jensen, Tua; Nielsen, Jørgen Erik; Knudsen, Gitte Moos; Vogel, Asmus

    2016-12-01

    Huntington's disease (HD) is associated with risk for developing psychiatric symptoms. Vulnerability or resilience to psychiatric symptoms may be associated with personality traits. This exploratory study, aimed to investigate personality traits in a large cohort of HD carriers and at risk gene-expansion negative individuals (HD non-carriers), exploring whether carrying the HD gene or growing up in an HD family influences personality traits. Forty-seven HD carriers, Thirty-nine HD non-carriers, and 121 healthy controls answered the Danish version of the revised NEO personality inventory. Comparisons between HD carriers and HD non-carriers were mostly non-significant but the combined group of HD carriers and non-carriers showed significantly higher scores on the facets: "hostility," "assertiveness," and "activity" and on the trait "Conscientiousness" relative to controls, "Conscientiousness" have been associated with resilience to psychiatric symptoms. Twelve HD carriers and non-carriers were classified as depressed and showed significantly lower scores on "Extraversion" and "Conscientiousness" and significantly higher scores on "Neuroticism," which are associated with vulnerability to psychiatric symptoms. Our findings suggest that, there is no direct effect of the HD gene on personality traits, but that personality assessment may be relevant to use when identifying individuals from HD families who are vulnerable to develop psychiatric symptoms. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  12. Neuroendocrine and neurotrophic signaling in Huntington's disease: Implications for pathogenic mechanisms and treatment strategies.

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    Bartlett, Danielle M; Cruickshank, Travis M; Hannan, Anthony J; Eastwood, Peter R; Lazar, Alpar S; Ziman, Mel R

    2016-12-01

    Huntington's disease (HD) is a fatal neurodegenerative disease caused by an extended polyglutamine tract in the huntingtin protein. Circadian, sleep and hypothalamic-pituitary-adrenal (HPA) axis disturbances are observed in HD as early as 15 years before clinical disease onset. Disturbances in these key processes result in increased cortisol and altered melatonin release which may negatively impact on brain-derived neurotrophic factor (BDNF) expression and contribute to documented neuropathological and clinical disease features. This review describes the normal interactions between neurotrophic factors, the HPA-axis and circadian rhythm, as indicated by levels of BDNF, cortisol and melatonin, and the alterations in these intricately balanced networks in HD. We also discuss the implications of these alterations on the neurobiology of HD and the potential to result in hypothalamic, circadian, and sleep pathologies. Measurable alterations in these pathways provide targets that, if treated early, may reduce degeneration of brain structures. We therefore focus here on the means by which multidisciplinary therapy could be utilised as a non-pharmaceutical approach to restore the balance of these pathways. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.

  13. Huntington's disease accelerates epigenetic aging of human brain and disrupts DNA methylation levels.

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    Horvath, Steve; Langfelder, Peter; Kwak, Seung; Aaronson, Jeff; Rosinski, Jim; Vogt, Thomas F; Eszes, Marika; Faull, Richard L M; Curtis, Maurice A; Waldvogel, Henry J; Choi, Oi-Wa; Tung, Spencer; Vinters, Harry V; Coppola, Giovanni; Yang, X William

    2016-07-01

    Age of Huntington's disease (HD) motoric onset is strongly related to the number of CAG trinucleotide repeats in the huntingtin gene, suggesting that biological tissue age plays an important role in disease etiology. Recently, a DNA methylation based biomarker of tissue age has been advanced as an epigenetic aging clock. We sought to inquire if HD is associated with an accelerated epigenetic age. DNA methylation data was generated for 475 brain samples from various brain regions of 26 HD cases and 39 controls. Overall, brain regions from HD cases exhibit a significant epigenetic age acceleration effect (p=0.0012). A multivariate model analysis suggests that HD status increases biological age by 3.2 years. Accelerated epigenetic age can be observed in specific brain regions (frontal lobe, parietal lobe, and cingulate gyrus). After excluding controls, we observe a negative correlation (r=-0.41, p=5.5×10-8) between HD gene CAG repeat length and the epigenetic age of HD brain samples. Using correlation network analysis, we identify 11 co-methylation modules with a significant association with HD status across 3 broad cortical regions. In conclusion, HD is associated with an accelerated epigenetic age of specific brain regions and more broadly with substantial changes in brain methylation levels.

  14. The impact of different types of assistive devices on gait measures and safety in Huntington's disease.

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    Anne D Kloos

    Full Text Available BACKGROUND: Gait and balance impairments lead to frequent falls and injuries in individuals with Huntington's disease (HD. Assistive devices (ADs such as canes and walkers are often prescribed to prevent falls, but their efficacy is unknown. We systematically examined the effects of different types of ADs on quantitative gait measures during walking in a straight path and around obstacles. METHODS: Spatial and temporal gait parameters were measured in 21 subjects with HD as they walked across a GAITRite walkway under 7 conditions (i.e., using no AD and 6 commonly prescribed ADs: a cane, a weighted cane, a standard walker, and a 2, 3 or 4 wheeled walker. Subjects also were timed and observed for number of stumbles and falls while walking around two obstacles in a figure-of-eight pattern. RESULTS: Gait measure variability (i.e., coefficient of variation, an indicator of fall risk, was consistently better when using the 4WW compared to other ADs. Subjects also walked the fastest and had the fewest number of stumbles and falls when using the 4WW in the figure-of-eight course. Subjects walked significantly slower using ADs compared to no AD both across the GAITRite and in the figure-of-eight. Measures reflecting gait stability and safety improved with the 4WW but were made worse by some other ADs.

  15. The impact of different types of assistive devices on gait measures and safety in Huntington's disease.

    Science.gov (United States)

    Kloos, Anne D; Kegelmeyer, Deborah A; White, Susan E; Kostyk, Sandra K

    2012-01-01

    Gait and balance impairments lead to frequent falls and injuries in individuals with Huntington's disease (HD). Assistive devices (ADs) such as canes and walkers are often prescribed to prevent falls, but their efficacy is unknown. We systematically examined the effects of different types of ADs on quantitative gait measures during walking in a straight path and around obstacles. Spatial and temporal gait parameters were measured in 21 subjects with HD as they walked across a GAITRite walkway under 7 conditions (i.e., using no AD and 6 commonly prescribed ADs: a cane, a weighted cane, a standard walker, and a 2, 3 or 4 wheeled walker). Subjects also were timed and observed for number of stumbles and falls while walking around two obstacles in a figure-of-eight pattern. Gait measure variability (i.e., coefficient of variation), an indicator of fall risk, was consistently better when using the 4WW compared to other ADs. Subjects also walked the fastest and had the fewest number of stumbles and falls when using the 4WW in the figure-of-eight course. Subjects walked significantly slower using ADs compared to no AD both across the GAITRite and in the figure-of-eight. Measures reflecting gait stability and safety improved with the 4WW but were made worse by some other ADs.

  16. Targeting kynurenine 3-monooxygenase (KMO): implications for therapy in Huntington's disease.

    Science.gov (United States)

    Thevandavakkam, Mathuravani A; Schwarcz, Robert; Muchowski, Paul J; Giorgini, Flaviano

    2010-12-01

    Huntington's disease (HD) is an adult onset neurodegenerative disease caused by a polyglutamine expansion in the huntingtin protein. Recent work has shown that perturbation of kynurenine pathway (KP) metabolism is a hallmark of HD pathology, and that changes in brain levels of KP metabolites may play a causative role in this disease. The KP contains three neuroactive metabolites, the neurotoxins 3-hydroxykynurenine (3-HK) and quinolinic acid (QUIN), and the neuroprotectant kynurenic acid (KYNA). In model systems in vitro and in vivo, 3-HK and QUIN have been shown to cause neurodegeneration via a combination of excitotoxic mechanisms and oxidative stress. Recent studies with HD patient samples and in HD model systems have supported the idea that a shift away from the synthesis of KYNA and towards the formation of 3-HK and QUIN may trigger the neuropathological features observed in HD. The enzyme kynurenine 3-monooxygenase (KMO) is located at a critical branching point in the KP such that inhibition of this enzyme by either pharmacological or genetic means shifts the flux in the pathway towards the formation of KYNA. This intervention ameliorates disease-relevant phenotypes in HD models. Here we review the work implicating the KP in HD pathology and discuss the potential of KMO as a therapeutic target for this disorder. As several neurodegenerative diseases exhibit alterations in KP metabolism, this concept has broader implications for the treatment of brain diseases.

  17. Abnormal resting-state connectivity of motor and cognitive networks in early manifest Huntington's disease.

    Science.gov (United States)

    Wolf, R C; Sambataro, F; Vasic, N; Depping, M S; Thomann, P A; Landwehrmeyer, G B; Süssmuth, S D; Orth, M

    2014-11-01

    Functional magnetic resonance imaging (fMRI) of multiple neural networks during the brain's 'resting state' could facilitate biomarker development in patients with Huntington's disease (HD) and may provide new insights into the relationship between neural dysfunction and clinical symptoms. To date, however, very few studies have examined the functional integrity of multiple resting state networks (RSNs) in manifest HD, and even less is known about whether concomitant brain atrophy affects neural activity in patients. Using MRI, we investigated brain structure and RSN function in patients with early HD (n = 20) and healthy controls (n = 20). For resting-state fMRI data a group-independent component analysis identified spatiotemporally distinct patterns of motor and prefrontal RSNs of interest. We used voxel-based morphometry to assess regional brain atrophy, and 'biological parametric mapping' analyses to investigate the impact of atrophy on neural activity. Compared with controls, patients showed connectivity changes within distinct neural systems including lateral prefrontal, supplementary motor, thalamic, cingulate, temporal and parietal regions. In patients, supplementary motor area and cingulate cortex connectivity indices were associated with measures of motor function, whereas lateral prefrontal connectivity was associated with cognition. This study provides evidence for aberrant connectivity of RSNs associated with motor function and cognition in early manifest HD when controlling for brain atrophy. This suggests clinically relevant changes of RSN activity in the presence of HD-associated cortical and subcortical structural abnormalities.

  18. Altered hypothalamic protein expression in a rat model of Huntington's disease.

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    Wei-na Cong

    Full Text Available Huntington's disease (HD is a neurodegenerative disorder, which is characterized by progressive motor impairment and cognitive alterations. Changes in energy metabolism, neuroendocrine function, body weight, euglycemia, appetite function, and circadian rhythm can also occur. It is likely that the locus of these alterations is the hypothalamus. We used the HD transgenic (tg rat model bearing 51 CAG repeats, which exhibits similar HD symptomology as HD patients to investigate hypothalamic function. We conducted detailed hypothalamic proteome analyses and also measured circulating levels of various metabolic hormones and lipids in pre-symptomatic and symptomatic animals. Our results demonstrate that there are significant alterations in HD rat hypothalamic protein expression such as glial fibrillary acidic protein (GFAP, heat shock protein-70, the oxidative damage protein glutathione peroxidase (Gpx4, glycogen synthase1 (Gys1 and the lipid synthesis enzyme acylglycerol-3-phosphate O-acyltransferase 1 (Agpat1. In addition, there are significant alterations in various circulating metabolic hormones and lipids in pre-symptomatic animals including, insulin, leptin, triglycerides and HDL, before any motor or cognitive alterations are apparent. These early metabolic and lipid alterations are likely prodromal signs of hypothalamic dysfunction. Gaining a greater understanding of the hypothalamic and metabolic alterations that occur in HD, could lead to the development of novel therapeutics for early interventional treatment of HD.

  19. Environmental factors as modulators of neurodegeneration: insights from gene-environment interactions in Huntington's disease.

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    Mo, Christina; Hannan, Anthony J; Renoir, Thibault

    2015-05-01

    Unlike many other neurodegenerative diseases with established gene-environment interactions, Huntington's disease (HD) is viewed as a disorder governed by genetics. The cause of the disease is a highly penetrant tandem repeat expansion encoding an extended polyglutamine tract in the huntingtin protein. In the year 2000, a pioneering study showed that the disease could be delayed in transgenic mice by enriched housing conditions. This review describes subsequent human and preclinical studies identifying environmental modulation of motor, cognitive, affective and other symptoms found in HD. Alongside the behavioral observations we also discuss potential mechanisms and the relevance to other neurodegenerative disorders, including Alzheimer's and Parkinson's disease. In mouse models of HD, increased sensorimotor and cognitive stimulation can delay or ameliorate various endophenotypes. Potential mechanisms include increased trophic support, synaptic plasticity, adult neurogenesis, and other forms of experience-dependent cellular plasticity. Subsequent clinical investigations support a role for lifetime activity levels in modulating the onset and progression of HD. Stress can accelerate memory and olfactory deficits and exacerbate cellular dysfunctions in HD mice. In the absence of effective treatments to slow the course of HD, environmental interventions offer feasible approaches to delay the disease, however further preclinical and human studies are needed in order to generate clinical recommendations. Environmental interventions could be combined with future pharmacological therapies and stimulate the identification of enviromimetics, drugs which mimic or enhance the beneficial effects of cognitive stimulation and physical activity. Copyright © 2015. Published by Elsevier Ltd.

  20. Cross sectional PET study of cerebral adenosine A1 receptors in premanifest and manifest Huntington's disease

    International Nuclear Information System (INIS)

    Matusch, Andreas; Elmenhorst, David; Saft, Carsten; Kraus, Peter H.; Gold, Ralf; Hartung, Hans-Peter; Bauer, Andreas

    2014-01-01

    To study cerebral adenosine receptors (AR) in premanifest and manifest stages of Huntington's disease (HD). We quantified the cerebral binding potential (BP ND ) of the A 1 AR in carriers of the HD CAG trinucleotide repeat expansion using the radioligand [ 18 F]CPFPX and PET. Four groups were investigated: (i) premanifest individuals far (preHD-A; n = 7) or (ii) near (preHD-B; n = 6) to the predicted symptom onset, (iii) manifest HD patients (n = 8), and (iv) controls (n = 36). Cerebral A 1 AR values of preHD-A subjects were generally higher than those of controls (by up to 31 %, p 1 AR BP ND was observed to the levels of controls in preHD-B and undercutting controls in manifest HD by down to 25 %, p 1 AR BP ND and years to onset. Before onset of HD, the assumed annual rates of change of A 1 AR density were -1.2 % in the caudatus, -1.7 % in the thalamus and -3.4 % in the amygdala, while the corresponding volume losses amounted to 0.6 %, 0.1 % and 0.2 %, respectively. Adenosine receptors switch from supra to subnormal levels during phenoconversion of HD. This differential regulation may play a role in the pathophysiology of altered energy metabolism. (orig.)

  1. Evaluation of longitudinal 12 and 24 month cognitive outcomes in premanifest and early Huntington's disease.

    Science.gov (United States)

    Stout, Julie C; Jones, Rebecca; Labuschagne, Izelle; O'Regan, Alison M; Say, Miranda J; Dumas, Eve M; Queller, Sarah; Justo, Damian; Santos, Rachelle Dar; Coleman, Allison; Hart, Ellen P; Dürr, Alexandra; Leavitt, Blair R; Roos, Raymund A; Langbehn, Doug R; Tabrizi, Sarah J; Frost, Chris

    2012-07-01

    Deterioration of cognitive functioning is a debilitating symptom in many neurodegenerative diseases, such as Huntington's disease (HD). To date, there are no effective treatments for the cognitive problems associated with HD. Cognitive assessment outcomes will have a central role in the efforts to develop treatments to delay onset or slow the progression of the disease. The TRACK-HD study was designed to build a rational basis for the selection of cognitive outcomes for HD clinical trials. There were a total of 349 participants, including controls (n=116), premanifest HD (n=117) and early HD (n=116). A standardised cognitive assessment battery (including nine cognitive tests comprising 12 outcome measures) was administered at baseline, and at 12 and 24 months, and consisted of a combination of paper and pencil and computerised tasks selected to be sensitive to cortical-striatal damage or HD. Each cognitive outcome was analysed separately using a generalised least squares regression model. Results are expressed as effect sizes to permit comparisons between tasks. 10 of the 12 cognitive outcomes showed evidence of deterioration in the early HD group, relative to controls, over 24 months, with greatest sensitivity in Symbol Digit, Circle Tracing direct and indirect, and Stroop word reading. In contrast, there was very little evidence of deterioration in the premanifest HD group relative to controls. The findings describe tests that are sensitive to longitudinal cognitive change in HD and elucidate important considerations for selecting cognitive outcomes for clinical trials of compounds aimed at ameliorating cognitive decline in HD.

  2. Disruption of astrocyte-neuron cholesterol cross talk affects neuronal function in Huntington's disease.

    Science.gov (United States)

    Valenza, M; Marullo, M; Di Paolo, E; Cesana, E; Zuccato, C; Biella, G; Cattaneo, E

    2015-04-01

    In the adult brain, neurons require local cholesterol production, which is supplied by astrocytes through apoE-containing lipoproteins. In Huntington's disease (HD), such cholesterol biosynthesis in the brain is severely reduced. Here we show that this defect, occurring in astrocytes, is detrimental for HD neurons. Astrocytes bearing the huntingtin protein containing increasing CAG repeats secreted less apoE-lipoprotein-bound cholesterol in the medium. Conditioned media from HD astrocytes and lipoprotein-depleted conditioned media from wild-type (wt) astrocytes were equally detrimental in a neurite outgrowth assay and did not support synaptic activity in HD neurons, compared with conditions of cholesterol supplementation or conditioned media from wt astrocytes. Molecular perturbation of cholesterol biosynthesis and efflux in astrocytes caused similarly altered astrocyte-neuron cross talk, whereas enhancement of glial SREBP2 and ABCA1 function reversed the aspects of neuronal dysfunction in HD. These findings indicate that astrocyte-mediated cholesterol homeostasis could be a potential therapeutic target to ameliorate neuronal dysfunction in HD.

  3. EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease.

    Science.gov (United States)

    Losekoot, Monique; van Belzen, Martine J; Seneca, Sara; Bauer, Peter; Stenhouse, Susan A R; Barton, David E

    2013-05-01

    Huntington disease (HD) is caused by the expansion of an unstable polymorphic trinucleotide (CAG)n repeat in exon 1 of the HTT gene, which translates into an extended polyglutamine tract in the protein. Laboratory diagnosis of HD involves estimation of the number of CAG repeats. Molecular genetic testing for HD is offered in a wide range of laboratories both within and outside the European community. In order to measure the quality and raise the standard of molecular genetic testing in these laboratories, the European Molecular Genetics Quality Network has organized a yearly external quality assessment (EQA) scheme for molecular genetic testing of HD for over 10 years. EQA compares a laboratory's output with a fixed standard both for genotyping and reporting of the results to the referring physicians. In general, the standard of genotyping is very high but the clarity of interpretation and reporting of the test result varies more widely. This emphasizes the need for best practice guidelines for this disorder. We have therefore developed these best practice guidelines for genetic testing for HD to assist in testing and reporting of results. The analytical methods and the potential pitfalls of molecular genetic testing are highlighted and the implications of the different test outcomes for the consultand and his or her family members are discussed.

  4. D-β-hydroxybutyrate is protective in mouse models of Huntington's disease.

    Directory of Open Access Journals (Sweden)

    Soyeon Lim

    Full Text Available Abnormalities in mitochondrial function and epigenetic regulation are thought to be instrumental in Huntington's disease (HD, a fatal genetic disorder caused by an expanded polyglutamine track in the protein huntingtin. Given the lack of effective therapies for HD, we sought to assess the neuroprotective properties of the mitochondrial energizing ketone body, D-β-hydroxybutyrate (DβHB, in the 3-nitropropionic acid (3-NP toxic and the R6/2 genetic model of HD. In mice treated with 3-NP, a complex II inhibitor, infusion of DβHB attenuates motor deficits, striatal lesions, and microgliosis in this model of toxin induced-striatal neurodegeneration. In transgenic R6/2 mice, infusion of DβHB extends life span, attenuates motor deficits, and prevents striatal histone deacetylation. In PC12 cells with inducible expression of mutant huntingtin protein, we further demonstrate that DβHB prevents histone deacetylation via a mechanism independent of its mitochondrial effects and independent of histone deacetylase inhibition. These pre-clinical findings suggest that by simultaneously targeting the mitochondrial and the epigenetic abnormalities associated with mutant huntingtin, DβHB may be a valuable therapeutic agent for HD.

  5. Caregiving Youth Knowledge and Perceptions of Parental End-of-Life Wishes in Huntington's Disease.

    Science.gov (United States)

    Kavanaugh, Melinda S; Noh, Hyunjin; Zhang, Lixia

    2016-01-01

    Knowledge of patient end-of-life (EOL) wishes and discussions are vital for family caregivers, including children and youth who may be in caregiving roles ("young carers" or "caregiving youth"). However, little is known about caregiving youth awareness and perceptions of EOL issues. This study sought to explore caregiving youth knowledge of EOL wishes and their willingness for EOL discussions. Face-to-face interviews with 40 caregiving youth ages 10-20, who have a parent with Huntington's disease (HD), provided information about their knowledge of the presence of their ill parent's living will (LW) and durable power of attorney for health care (DPAHC), and willingness to talk with the parent about EOL choices and possibility of death. Less than one-half of the participants were aware of the parent's LW or DPAHC. Content analysis revealed themes in reasons to want or not want EOL discussion with the parent: respect for the parent's wishes, caregiving youths' opinion not valued, and avoidance of EOL issues. Themes also included reasons to not want discussion with the parent about possibility of death: protecting the parent, parent in denial, parent not ready, and realization of the terminal outcome. Findings suggest HD patients and their caregiving youth need support for open EOL discussions, and could benefit from educational programs and support groups around EOL issues.

  6. Epidemiological Study of Huntington's Disease in the Province of Ferrara, Italy.

    Science.gov (United States)

    Carrassi, Erika; Pugliatti, Maura; Govoni, Vittorio; Sensi, Mariachiara; Casetta, Ilaria; Granieri, Enrico

    2017-01-01

    Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by the abnormal expansion of CAG triplet repeat. We aimed to reappraise HD epidemiology in a northern Italian population, in relation to introduction of genetic testing. Through ICD-9M code 333.4 and medical fare exemption code RF0080, HD cases were identified from administrative health data and medical records from the Units of Neurology and Genetics, Ferrara University Hospital, and from other provincial neurological structures. HD mean annual incidence rate in 1990-2009 was 0.3 per 100,000 (95% CI 0.2-0.5). All incident cases were found to have symptoms of the disease's classic form, and neither juvenile nor the rigid Westphal variant was detected. The mean (SD) age at onset was 50.2 (12.7 years; range 32-82 years), 54.9 (14.6) for men and 45.8 (9.4) for women. On prevalence day, December 31, 2014, HD prevalence was 4.2 per 100,000 (95% CI 2.4-7.0), with a male:female ratio of 1:2. The prevalence and incidence of HD in our population were lower than the prevalence and incidence reported for other European and Italian populations, but higher compared to those of Asia, Africa, and Eastern Europe. Compared to previous studies, HD incidence and prevalence did not change significantly. © 2017 S. Karger AG, Basel.

  7. Genetic Contributors to Intergenerational CAG Repeat Instability in Huntington's Disease Knock-In Mice.

    Science.gov (United States)

    Neto, João Luís; Lee, Jong-Min; Afridi, Ali; Gillis, Tammy; Guide, Jolene R; Dempsey, Stephani; Lager, Brenda; Alonso, Isabel; Wheeler, Vanessa C; Pinto, Ricardo Mouro

    2017-02-01

    Huntington's disease (HD) is a neurodegenerative disorder caused by the expansion of a CAG trinucleotide repeat in exon 1 of the HTT gene. Longer repeat sizes are associated with increased disease penetrance and earlier ages of onset. Intergenerationally unstable transmissions are common in HD families, partly underlying the genetic anticipation seen in this disorder. HD CAG knock-in mouse models also exhibit a propensity for intergenerational repeat size changes. In this work, we examine intergenerational instability of the CAG repeat in over 20,000 transmissions in the largest HD knock-in mouse model breeding datasets reported to date. We confirmed previous observations that parental sex drives the relative ratio of expansions and contractions. The large datasets further allowed us to distinguish effects of paternal CAG repeat length on the magnitude and frequency of expansions and contractions, as well as the identification of large repeat size jumps in the knock-in models. Distinct degrees of intergenerational instability were observed between knock-in mice of six background strains, indicating the occurrence of trans-acting genetic modifiers. We also found that lines harboring a neomycin resistance cassette upstream of Htt showed reduced expansion frequency, indicative of a contributing role for sequences in cis, with the expanded repeat as modifiers of intergenerational instability. These results provide a basis for further understanding of the mechanisms underlying intergenerational repeat instability. Copyright © 2017 by the Genetics Society of America.

  8. Early Detection of Apathetic Phenotypes in Huntington's Disease Knock-in Mice Using Open Source Tools.

    Science.gov (United States)

    Minnig, Shawn; Bragg, Robert M; Tiwana, Hardeep S; Solem, Wes T; Hovander, William S; Vik, Eva-Mari S; Hamilton, Madeline; Legg, Samuel R W; Shuttleworth, Dominic D; Coffey, Sydney R; Cantle, Jeffrey P; Carroll, Jeffrey B

    2018-02-02

    Apathy is one of the most prevalent and progressive psychiatric symptoms in Huntington's disease (HD) patients. However, preclinical work in HD mouse models tends to focus on molecular and motor, rather than affective, phenotypes. Measuring behavior in mice often produces noisy data and requires large cohorts to detect phenotypic rescue with appropriate power. The operant equipment necessary for measuring affective phenotypes is typically expensive, proprietary to commercial entities, and bulky which can render adequately sized mouse cohorts as cost-prohibitive. Thus, we describe here a home-built, open-source alternative to commercial hardware that is reliable, scalable, and reproducible. Using off-the-shelf hardware, we adapted and built several of the rodent operant buckets (ROBucket) to test Htt Q111/+ mice for attention deficits in fixed ratio (FR) and progressive ratio (PR) tasks. We find that, despite normal performance in reward attainment in the FR task, Htt Q111/+ mice exhibit reduced PR performance at 9-11 months of age, suggesting motivational deficits. We replicated this in two independent cohorts, demonstrating the reliability and utility of both the apathetic phenotype, and these ROBuckets, for preclinical HD studies.

  9. The role of oxidative stress in Huntington's disease: are antioxidants good therapeutic candidates?

    Science.gov (United States)

    Gil-Mohapel, Joana; Brocardo, Patricia S; Christie, Brian R

    2014-04-01

    Huntington's disease (HD) is the most common polyglutamine neurodegenerative disorder in humans, and is caused by a mutation of an unstable expansion of CAG repeats within the coding region of the HD gene, which expresses the protein huntingtin. Although abnormal protein is ubiquitously expressed throughout the organism, cell degeneration occurs mainly in the brain, and there, predominantly in the striatum and cortex. The mechanisms that account for this selective neuronal death are multifaceted in nature and several lines of evidence suggest that mitochondrial dysfunction, overproduction of reactive oxygen species (ROS) and oxidative stress (an imbalance between pro-oxidant and antioxidant systems resulting in oxidative damage to proteins, lipids and DNA) might play important roles. Over time, this can result in the death of the affected neuronal populations. In this review article we present an overview of the preclinical and clinical studies that have indicated a link between oxidative stress, neurodegeneration, and cell death in HD. We also discuss how changes in ROS production affect neuronal survival, highlighting the evidence for the use of antioxidants including essential fatty acids, coenzyme Q10, and creatine, as potential therapeutic strategies for the treatment of this devastating neurodegenerative disorder.

  10. Transgenic animal models for study of the pathogenesis of Huntington's disease and therapy.

    Science.gov (United States)

    Chang, Renbao; Liu, Xudong; Li, Shihua; Li, Xiao-Jiang

    2015-01-01

    Huntington's disease (HD) is caused by a genetic mutation that results in polyglutamine expansion in the N-terminal regions of huntingtin. As a result, this polyQ expansion leads to the misfolding and aggregation of mutant huntingtin as well as age-dependent neurodegeneration. The genetic mutation in HD allows for generating a variety of animal models that express different forms of mutant huntingtin and show differential pathology. Studies of these animal models have provided an important insight into the pathogenesis of HD. Mouse models of HD include transgenic mice, which express N-terminal or full-length mutant huntingtin ubiquitously or selectively in different cell types, and knock-in mice that express full-length mutant Htt at the endogenous level. Large animals, such as pig, sheep, and monkeys, have also been used to generate animal HD models. This review focuses on the different features of commonly used transgenic HD mouse models as well as transgenic large animal models of HD, and also discusses how to use them to identify potential therapeutics. Since HD shares many pathological features with other neurodegenerative diseases, identification of therapies for HD would also help to develop effective treatment for different neurodegenerative diseases that are also caused by protein misfolding and occur in an age-dependent manner.

  11. Structure and Dynamics of RNA Repeat Expansions That Cause Huntington's Disease and Myotonic Dystrophy Type 1.

    Science.gov (United States)

    Chen, Jonathan L; VanEtten, Damian M; Fountain, Matthew A; Yildirim, Ilyas; Disney, Matthew D

    2017-07-11

    RNA repeat expansions cause a host of incurable, genetically defined diseases. The most common class of RNA repeats consists of trinucleotide repeats. These long, repeating transcripts fold into hairpins containing 1 × 1 internal loops that can mediate disease via a variety of mechanism(s) in which RNA is the central player. Two of these disorders are Huntington's disease and myotonic dystrophy type 1, which are caused by r(CAG) and r(CUG) repeats, respectively. We report the structures of two RNA constructs containing three copies of a r(CAG) [r(3×CAG)] or r(CUG) [r(3×CUG)] motif that were modeled with nuclear magnetic resonance spectroscopy and simulated annealing with restrained molecular dynamics. The 1 × 1 internal loops of r(3×CAG) are stabilized by one-hydrogen bond (cis Watson-Crick/Watson-Crick) AA pairs, while those of r(3×CUG) prefer one- or two-hydrogen bond (cis Watson-Crick/Watson-Crick) UU pairs. Assigned chemical shifts for the residues depended on the identity of neighbors or next nearest neighbors. Additional insights into the dynamics of these RNA constructs were gained by molecular dynamics simulations and a discrete path sampling method. Results indicate that the global structures of the RNA are A-form and that the loop regions are dynamic. The results will be useful for understanding the dynamic trajectory of these RNA repeats but also may aid in the development of therapeutics.

  12. Early grey matter changes in structural covariance networks in Huntington's disease.

    Science.gov (United States)

    Coppen, Emma M; van der Grond, Jeroen; Hafkemeijer, Anne; Rombouts, Serge A R B; Roos, Raymund A C

    2016-01-01

    Progressive subcortical changes are known to occur in Huntington's disease (HD), a hereditary neurodegenerative disorder. Less is known about the occurrence and cohesion of whole brain grey matter changes in HD. We aimed to detect network integrity changes in grey matter structural covariance networks and examined relationships with clinical assessments. Structural magnetic resonance imaging data of premanifest HD ( n  = 30), HD patients (n = 30) and controls (n = 30) was used to identify ten structural covariance networks based on a novel technique using the co-variation of grey matter with independent component analysis in FSL. Group differences were studied controlling for age and gender. To explore whether our approach is effective in examining grey matter changes, regional voxel-based analysis was additionally performed. Premanifest HD and HD patients showed decreased network integrity in two networks compared to controls. One network included the caudate nucleus, precuneous and anterior cingulate cortex (in HD p  covariance might be a sensitive approach to reveal early grey matter changes, especially for premanifest HD.

  13. From mild ataxia to huntington disease phenocopy: the multiple faces of spinocerebellar ataxia 17.

    Science.gov (United States)

    Koutsis, Georgios; Panas, Marios; Paraskevas, George P; Bougea, Anastasia M; Kladi, Athina; Karadima, Georgia; Kapaki, Elisabeth

    2014-01-01

    Introduction. Spinocerebellar ataxia 17 (SCA 17) is a rare autosomal dominant cerebellar ataxia (ADCA) caused by a CAG/CAA expansion in the TBP gene, reported from a limited number of countries. It is a very heterogeneous ADCA characterized by ataxia, cognitive decline, psychiatric symptoms, and involuntary movements, with some patients presenting with Huntington disease (HD) phenocopies. The SCA 17 expansion is stable during parent-child transmission and intrafamilial phenotypic homogeneity has been reported. However, significant phenotypic variability within families has also been observed. Report of the Family. We presently report a Greek family with a pathological expansion of 54 repeats at the SCA 17 locus that displayed remarkable phenotypic variability. Among 3 affected members, one presented with HD phenocopy; one with progressive ataxia, dementia, chorea, dystonia, and seizures, and one with mild slowly progressive ataxia with minor cognitive and affective symptoms. Conclusions. This is the first family with SCA 17 identified in Greece and highlights the multiple faces of this rare disorder, even within the same family.

  14. The challenge of juvenile Huntington disease: to test or not to test.

    Science.gov (United States)

    Koutsis, Georgios; Karadima, Georgia; Kladi, Athina; Panas, Marios

    2013-03-12

    In a cohort of patients with suspected juvenile-onset Huntington disease (HD), we compared HD expansion-positive and -negative cases in order to identify parameters that may allow differentiating between them and may act as a guide to clinicians contemplating genetic testing. We analyzed the clinical and genetic characteristics of 76 juvenile-onset patients referred consecutively for HD genetic testing over a 16-year period. In total, 24 patients were positive for the HD expansion (7.8% of our HD cohort). Mean age at onset of expanded cases was similar to unexpanded cases. All expanded cases had a family history of genetically confirmed HD compared to only 13.5% of unexpanded cases (p = 0.000). Clinical symptoms at onset or at presentation could not differentiate between expanded and unexpanded patients. Although criteria suggested by previous reports allowed statistical differentiation between the 2 groups, they were not sufficiently sensitive and specific to be used in clinical context and performed less satisfactorily than presence of a family history of HD alone. A diagnosis of juvenile HD should be primarily contemplated in symptomatic children with a family history of HD, although a proportion of these will test negative. With no family history of HD, juvenile HD is very unlikely and genetic testing should never delay searching for other causes. The specific nature of symptoms at onset or at presentation is of limited value in guiding the decision to test or not to test.

  15. From Mild Ataxia to Huntington Disease Phenocopy: The Multiple Faces of Spinocerebellar Ataxia 17

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    Georgios Koutsis

    2014-01-01

    Full Text Available Introduction. Spinocerebellar ataxia 17 (SCA 17 is a rare autosomal dominant cerebellar ataxia (ADCA caused by a CAG/CAA expansion in the TBP gene, reported from a limited number of countries. It is a very heterogeneous ADCA characterized by ataxia, cognitive decline, psychiatric symptoms, and involuntary movements, with some patients presenting with Huntington disease (HD phenocopies. The SCA 17 expansion is stable during parent-child transmission and intrafamilial phenotypic homogeneity has been reported. However, significant phenotypic variability within families has also been observed. Report of the Family. We presently report a Greek family with a pathological expansion of 54 repeats at the SCA 17 locus that displayed remarkable phenotypic variability. Among 3 affected members, one presented with HD phenocopy; one with progressive ataxia, dementia, chorea, dystonia, and seizures, and one with mild slowly progressive ataxia with minor cognitive and affective symptoms. Conclusions. This is the first family with SCA 17 identified in Greece and highlights the multiple faces of this rare disorder, even within the same family.

  16. Co-segregation of Huntington disease and hereditary spastic paraplegia in 4 generations.

    Science.gov (United States)

    Panas, Marios; Karadima, Georgia; Kalfakis, Nikolaos; Vassilopoulos, Dimitris

    2011-07-01

    Huntington disease (HD) is an autosomal dominant neurodegenerative disease characterized by choreic hyperkinesias, cognitive decline, and psychiatric manifestations, caused by an increased number of CAG repeats in the IT15 gene on chromosome 4p16.3. Silver syndrome is a rare autosomal dominant form of complicated hereditary spastic paraplegia, characterized by lower limb spasticity in addition to amyotrophy of the small muscles of the hands. In addition to the previously identified locus SPG17 on chromosome 11q12-q14, a new locus (SPG38) on chromosome 4p16-p15 has been recently identified, a region that includes the HD gene. We present a Greek family with 5 members diagnosed with HD in 4 generations. All affected members also presented with clinical features of Silver syndrome showing severe spastic paraplegia and prominent atrophy of all small hand muscles bilaterally. None of the other family members showed features of either HD or spastic paraplegia. The reported coexistence of Silver syndrome with HD in 4 generations is not fortuitous, suggesting that these 2 distinct genetic disorders are in linkage disequilibrium. Although rare, it is reasonable to expect additional similar cases. Clinical neurologists should perhaps investigate this possibility in cases combining features of HD and involvement of the upper and lower motor neurons.

  17. Molecular diagnosis of Huntington disease in Brazilian patients Diagnóstico molecular da doença de Huntington em pacientes brasileiros

    Directory of Open Access Journals (Sweden)

    TEREZA C. LIMA E SILVA

    2000-03-01

    Full Text Available Huntington disease (HD is a progressive neurodegenerative disorder with autosomal dominant inheritance, characterized by choreiform movements and cognitive impairment. Onset of symptoms is around 40 years of age and progression to death occurs in approximately 10 to 15 years from the time of disease onset. HD is associated with an unstable CAG repeat expansion at the 5' and of the IT15 gene. We have genotyped the CAG repeat in the IT15 gene in 44 Brazilian individuals (42 patients and 2 unaffected family members belonging to 34 unrelated families thought to segregate HD. We found one expanded CAG allele in 32 individuals (76% belonging to 25 unrelated families. In these HD patients, expanded alleles varied from 43 to 73 CAG units and normal alleles varied from 18 to 26 CAGs. A significant negative correlation between age at onset of symptoms and size of the expanded CAG allele was found (r=0.6; p=0.0001; however, the size of the expanded CAG repeat could explain only about 40% of the variability in age at onset (r2=0.4. In addition, we genotyped 25 unrelated control individuals (total of 50 alleles and found normal CAG repeats varying from 16 to 33 units. The percentage of heterozigocity of the normal allele in the control population was 88%. In conclusion, our results showed that not all patients with the "HD" phenotype carried the expansion at the IT15 gene. Furthermore, molecular diagnosis was possible in all individuals, since no alleles of intermediate size were found. Therefore, molecular confirmation of the clinical diagnosis in HD should be sought in all suspected patients, making it possible for adequate genetic counseling.A doença de Huntington (HD é afecção neurodegenerativa com padrão de herança autossômica dominante caracterizada por movimentos involuntários coreiformes e alterações cognitivas. O início dos sintomas ocorre em torno dos 40 de idade, progredindo até a morte em um período de aproximadamente 10 a 15 anos ap

  18. The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients

    DEFF Research Database (Denmark)

    Metzger, Silke; Walter, Carolin; Riess, Olaf

    2013-01-01

    The cause of Huntington disease (HD) is a polyglutamine repeat expansion of more than 36 units in the huntingtin protein, which is inversely correlated with the age at onset of the disease. However, additional genetic factors are believed to modify the course and the age at onset of HD. Recently......, we identified the V471A polymorphism in the autophagy-related gene ATG7, a key component of the autophagy pathway that plays an important role in HD pathogenesis, to be associated with the age at onset in a large group of European Huntington disease patients. To confirm this association in a second...... independent patient cohort, we analysed the ATG7 V471A polymorphism in additional 1,464 European HD patients of the "REGISTRY" cohort from the European Huntington Disease Network (EHDN). In the entire REGISTRY cohort we could not confirm a modifying effect of the ATG7 V471A polymorphism. However, analysing...

  19. Sensory modulation intervention and behaviour support modification for the treatment of severe aggression in Huntington's disease. A single case experimental design.

    Science.gov (United States)

    Fisher, Caroline A; Brown, Anahita

    2017-09-01

    Aggression is common in Huntington's disease. However, at present there are no standard guidelines for managing aggression in Huntington's sufferers due to a lack of empirical research. This paper presents a case study of the treatment of very high levels of aggression with sensory modulation and behaviour support intervention in a Huntington's sufferer. The client exhibited a range of aggressive behaviours, including physical aggression to people, furniture and objects, and verbal aggression. Following an eight week baseline phase, five weeks of sensory modulation intervention were employed. A behaviour support plan was then implemented as an adjunct to the sensory intervention, with aggressive behaviour systematically audited for a further 11 weeks. The results indicate a significant reduction in reported levels of aggression during the combined sensory modulation and behaviour support phase, compared to both the baseline and the sensory modulation therapy alone phases. This case study highlights the efficacy non-pharmacological interventions may have for reducing aggression in HD.

  20. Deficient Rab11 activity underlies glucose hypometabolism in primary neurons of Huntington's disease mice

    Energy Technology Data Exchange (ETDEWEB)

    Li, Xueyi, E-mail: xli12@partners.org [Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA 02129 (United States); Valencia, Antonio; McClory, Hollis; Sapp, Ellen; Kegel, Kimberly B. [Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA 02129 (United States); DiFiglia, Marian, E-mail: difiglia@helix.mgh.harvard.edu [Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA 02129 (United States)

    2012-05-18

    Highlights: Black-Right-Pointing-Pointer Primary Huntington's disease neurons are impaired in taking up glucose. Black-Right-Pointing-Pointer Rab11 modulates glucose uptake in neurons. Black-Right-Pointing-Pointer Increasing Rab11 activity attenuates the glucose uptake defect in disease neurons. Black-Right-Pointing-Pointer We provide a novel mechanism for glucose hypometabolism in Huntington's disease. -- Abstract: Huntington's disease (HD) is a progressive neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin gene. Positron emission tomography studies have revealed a decline in glucose metabolism in the brain of patients with HD by a mechanism that has not been established. We examined glucose utilization in embryonic primary cortical neurons of wild-type (WT) and HD knock-in mice, which have 140 CAG repeats inserted in the endogenous mouse huntingtin gene (HD{sup 140Q/140Q}). Primary HD{sup 140Q/140Q} cortical neurons took up significantly less glucose than did WT neurons. Expression of permanently inactive and permanently active forms of Rab11 correspondingly altered glucose uptake in WT neurons, suggesting that normal activity of Rab11 is needed for neuronal uptake of glucose. It is known that Rab11 activity is diminished in HD{sup 140Q/140Q} neurons. Expression of dominant active Rab11 to enhance the activity of Rab11 normalized glucose uptake in HD{sup 140Q/140Q} neurons. These results suggest that deficient activity of Rab11 is a novel mechanism for glucose hypometabolism in HD.

  1. Neuropathological Comparison of Adult Onset and Juvenile Huntington's Disease with Cerebellar Atrophy: A Report of a Father and Son.

    Science.gov (United States)

    Latimer, Caitlin S; Flanagan, Margaret E; Cimino, Patrick J; Jayadev, Suman; Davis, Marie; Hoffer, Zachary S; Montine, Thomas J; Gonzalez-Cuyar, Luis F; Bird, Thomas D; Keene, C Dirk

    2017-01-01

    Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by a trinucleotide (CAG) repeat expansion in huntingtin (HTT) on chromosome 4. Anticipation can cause longer repeat expansions in children of HD patients. Juvenile Huntington's disease (JHD), defined as HD arising before age 20, accounts for 5-10% of HD cases, with cases arising in the first decade accounting for approximately 1%. Clinically, JHD differs from the predominately choreiform adult onset Huntington's disease (AOHD) with variable presentations, including symptoms such as myoclonus, seizures, Parkinsonism, and cognitive decline. The neuropathologic changes of AOHD are well characterized, but there are fewer reports that describe the neuropathology of JHD. Here we report a case of a six-year-old boy with paternally-inherited JHD caused by 169 CAG trinucleotide repeats who presented at age four with developmental delay, dysarthria, and seizures before dying at age 6. The boy's clinical presentation and neuropathological findings are directly compared to those of his father, who presented with AOHD and 54 repeats. A full autopsy was performed for the JHD case and a brain-only autopsy was performed for the AOHD case. Histochemically- and immunohistochemically-stained slides were prepared from formalin-fixed, paraffin-embedded tissue sections. Both cases had neuropathology corresponding to Vonsattel grade 3. The boy also had cerebellar atrophy with huntingtin-positive inclusions in the cerebellum, findings not present in the father. Autopsies of father and son provide a unique opportunity to compare and contrast the neuropathologic findings of juvenile and adult onset HD while also providing the first immunohistochemical evidence of cerebellar involvement in JHD. Additionally this is the first known report to include findings from peripheral tissue in a case of JHD.

  2. Eugenia negativa e positiva: significados e contradições Eugenesia negativa y positiva: significados y contradicciones Negative and positive eugenics: meanings and contradictions

    Directory of Open Access Journals (Sweden)

    Lilian Denise Mai

    2006-04-01

    Full Text Available A prática da eugenia constitui importante tema de debate associado aos atuais avanços biogenéticos. Considerando que a centralidade da eugenia é a preocupação com a saúde e constituição das futuras gerações, e que a utilização de meios e conhecimentos científicos em prol do nascimento de uma criança física e mentalmente saudável pode ser considerada uma ação eugênica, pretende-se, nesse texto, analisar significados e contradições das ações eugenistas negativas e positivas, construídos concomitantes aos avanços técnico-científicos do século XX. Conclui-se que os significados transitam, respectivamente, em torno de limitar ou estimular a reprodução humana, no início do século, até prevenir doenças ou melhorar características físicas e mentais, na atualidade. Implementando ações, produziram-se contradições, como a discriminação e eliminação de muitas pessoas frente a um ideal de homem, à biologização de fatores eminentemente sociais, à defesa da pretensa neutralidade científica e ao uso indiscriminado do direito de escolha reprodutiva.La práctica de la eugenesia es un importante tema de debate, ligado a los avances biogenéticos actuales. Considerando que la cuestión central de la eugenesia es la preocupación con la salud y la constitución de las futuras generaciones y que la utilización de medios y conocimientos científicos en función del nacimiento de un niño física y mentalmente saludable puede ser considerada una acción eugenésica, en este texto se pretende analizar los significados y contradicciones de las acciones eugenésicas negativas y positivas, construidos concomitantes a los avances técnico-científicos del siglo XX. Se concluye que los significados giran, respectivamente, en torno de limitar o estimular la reproducción humana, al comienzo del siglo, hasta prevenir enfermedades o mejorar características físicas y mentales, en la actualidad. Implementando acciones, se

  3. Características del habla, el lenguaje y la deglución en la enfermedad de Huntington

    OpenAIRE

    Camargo-Mendoza, Maryluz; Castillo-Triana, Nicolás; Fandiño-Cardona, Juan Miguel; Mateus-Moreno, Angélica; Moreno-Martínez, Mariana

    2017-01-01

    Resumen La enfermedad de Huntington (EH) ha sido descrita como una afección de causa genética producida por una mutación en la repetición de la secuencia de nucleótidos CAG (citosina-adenina-guanina). Según el estadio que curse la enfermedad, las personas pueden presentar dificultades en el habla, el lenguaje y la deglución. El propósito de este artículo es exponer con detalle dichas dificultades, así como su tratamiento fonoaudiológico. Se destaca que en el habla se encuentran característica...

  4. Detection of early behavioral markers of Huntington's disease in R6/2 mice employing an automated social home cage

    DEFF Research Database (Denmark)

    Rudenko, Olga; Tkach, Vadim; Berezin, Vladimir

    2009-01-01

    developed behavior screening system, the IntelliCage, allows automated testing of mouse behavior in the home cage employing individual recognition of animals living in social groups. The present study validates the ability of the IntelliCage system to detect behavioral and cognitive dysfunction in R6/2 mice......Huntington's disease (HD) is an autosomal-dominant neurodegenerative disorder, for which no known cure or effective treatment exists. To facilitate the search for new potential treatments of HD, an automated system for analyzing the behavior of transgenic HD mice is urgently needed. A recently...

  5. Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation

    DEFF Research Database (Denmark)

    Bech, Sara; Petersen, Thor; Nørremølle, Anne

    2010-01-01

    The autosomal dominant spinocerebellar ataxias, commonly referred to as SCAs, are clinically and genetically heterogeneous neurodegenerative disorders. Twenty-eight genetic subtypes have been identified, of which 7 are caused by expansion of a CAG trinucleotide repeat that encodes a polyglutamine....... The patient's mother and father both carried normal range repeats, 38/38 and 33/39 respectively. Analysis of the repeat structures revealed that the expansion had occurred upon expansion of the longer paternal allele. We conclude that, however rare, SCA17 must be considered as a cause of Huntington's disease...

  6. Progressive Impairment of Lactate-based Gluconeogenesis in the Huntington's Disease Mouse Model R6/2.

    Science.gov (United States)

    Nielsen, Signe Marie Borch; Hasholt, Lis; Nørremølle, Anne; Josefsen, Knud

    2015-04-20

    Huntington's disease (HD) is a neurodegenerative illness, where selective neuronal loss in the brain caused by expression of mutant huntingtin protein leads to motor dysfunction and cognitive decline in addition to peripheral metabolic changes. In this study we confirm our previous observation of impairment of lactate-based hepatic gluconeogenesis in the transgenic HD mouse model R6/2 and determine that the defect manifests very early and progresses in severity with disease development, indicating a potential to explore this defect in a biomarker context. Moreover, R6/2 animals displayed lower blood glucose levels during prolonged fasting compared to wild type animals.

  7. Eugenics ideals, racial hygiene, and the emigration process of German-American neurogeneticist Franz Josef Kallmann (1897-1965).

    Science.gov (United States)

    Pow, Stephen; Stahnisch, Frank W

    2016-01-01

    Biological psychiatry in the early twentieth century was based on interrelated disciplines, such as neurology and experimental biology. Neuropsychiatrist Franz Josef Kallmann (1897-1965) was a product of this interdisciplinary background who showed an ability to adapt to different scientific contexts, first in the field of neuromorphology in Berlin, and later in New York. Nonetheless, having innovative ideas, as Kallmann did, could be an ambiguous advantage, since they could lead to incommensurable scientific views and marginalization in existing research programs. Kallmann followed his Dr. Med. degree (1919) with training periods at the Charité Medical School in Berlin under psychiatrist Karl Bonhoeffer (1868-1948). Subsequently, he collaborated with Ernst Ruedin (1874-1952), investigating sibling inheritance of schizophrenia and becoming a protagonist of genetic research on psychiatric conditions. In 1936, Kallmann was forced to immigrate to the USA where he published The Genetics of Schizophrenia (1938), based on data he had gathered from the district pathological institutes of Berlin's public health department. Kallmann resumed his role as an international player in biological psychiatry and genetics, becoming president (1952) of the American Society of Human Genetics and Director of the New York State Psychiatric Institute in 1955. While his work was well received by geneticists, the idea of genetic differences barely took hold in American psychiatry, largely because of émigré psychoanalysts who dominated American clinical psychiatry until the 1960s and established a philosophical direction in which genetics played no significant role, being regarded as dangerous in light of Nazi medical atrocities. After all, medical scientists in Nazi Germany had been among the social protagonists of racial hygiene which, under the aegis of Nazi philosophies, replaced medical genetics as the basis for the ideals and application of eugenics.

  8. A Juridical Insight of Brave New World: The Eugenics Found on the Selection Criteria of Genetic Material for the Assisted Human Reproduction

    Directory of Open Access Journals (Sweden)

    Carlos Eduardo de Oliveira Alban

    2016-06-01

    Full Text Available Following the teachings of the “Law in the Literature” movement, as well as the method of the Phemenological Hermeneutics, the present essay intends to discuss the eugenics content present in the abstract criteria for donating genetic material in Brazil. In order to present this problem clearly for the reader, the novel Brave New World, from Aldous Huxley, will be used as an example. Opportunely, it will deal with the recent situation regarding the investigation of the London Sperm Bank donators’ politics, in which important debates related to the genetic selection aiming for avoiding congenital diseases appear.

  9. Motor network structure and function are associated with motor performance in Huntington's disease.

    Science.gov (United States)

    Müller, Hans-Peter; Gorges, Martin; Grön, Georg; Kassubek, Jan; Landwehrmeyer, G Bernhard; Süßmuth, Sigurd D; Wolf, Robert Christian; Orth, Michael

    2016-03-01

    In Huntington's disease, the relationship of brain structure, brain function and clinical measures remains incompletely understood. We asked how sensory-motor network brain structure and neural activity relate to each other and to motor performance. Thirty-four early stage HD and 32 age- and sex-matched healthy control participants underwent structural magnetic resonance imaging (MRI), diffusion tensor, and intrinsic functional connectivity MRI. Diffusivity patterns were assessed in the cortico-spinal tract and the thalamus-somatosensory cortex tract. For the motor network connectivity analyses the dominant M1 motor cortex region and for the basal ganglia-thalamic network the thalamus were used as seeds. Region to region structural and functional connectivity was examined between thalamus and somatosensory cortex. Fractional anisotropy (FA) was higher in HD than controls in the basal ganglia, and lower in the external and internal capsule, in the thalamus, and in subcortical white matter. Between-group axial and radial diffusivity differences were more prominent than differences in FA, and correlated with motor performance. Within the motor network, the insula was less connected in HD than in controls, with the degree of connection correlating with motor scores. The basal ganglia-thalamic network's connectivity differed in the insula and basal ganglia. Tract specific white matter diffusivity and functional connectivity were not correlated. In HD sensory-motor white matter organization and functional connectivity in a motor network were independently associated with motor performance. The lack of tract-specific association of structure and function suggests that functional adaptation to structural loss differs between participants.

  10. Natural biological variation of white matter microstructure is accentuated in Huntington's disease.

    Science.gov (United States)

    Gregory, Sarah; Crawford, Helen; Seunarine, Kiran; Leavitt, Blair; Durr, Alexandra; Roos, Raymund A C; Scahill, Rachael I; Tabrizi, Sarah J; Rees, Geraint; Langbehn, Douglas; Orth, Michael

    2018-04-22

    Huntington's disease (HD) is a monogenic neurodegenerative disorder caused by a CAG-repeat expansion in the Huntingtin gene. Presence of this expansion signifies certainty of disease onset, but only partly explains age at which onset occurs. Genome-wide association studies have shown that naturally occurring genetic variability influences HD pathogenesis and disease onset. Investigating the influence of biological traits in the normal population, such as variability in white matter properties, on HD pathogenesis could provide a complementary approach to understanding disease modification. We have previously shown that while white matter diffusivity patterns in the left sensorimotor network were similar in controls and HD gene-carriers, they were more extreme in the HD group. We hypothesized that the influence of natural variation in diffusivity on effects of HD pathogenesis on white matter is not limited to the sensorimotor network but extends to cognitive, limbic, and visual networks. Using tractography, we investigated 32 bilateral pathways within HD-related networks, including motor, cognitive, and limbic, and examined diffusivity metrics using principal components analysis. We identified three independent patterns of diffusivity common to controls and HD gene-carriers that predicted HD status. The first pattern involved almost all tracts, the second was limited to sensorimotor tracts, and the third encompassed cognitive network tracts. Each diffusivity pattern was associated with network specific performance. The consistency in diffusivity patterns across both groups coupled with their association with disease status and task performance indicates that naturally-occurring patterns of diffusivity can become accentuated in the presence of the HD gene mutation to influence clinical brain function. © 2018 The Authors Human Brain Mapping Published by Wiley Periodicals, Inc.

  11. Sexually dimorphic serotonergic dysfunction in a mouse model of Huntington's disease and depression.

    Directory of Open Access Journals (Sweden)

    Thibault Renoir

    Full Text Available Depression is the most common psychiatric disorder in Huntington's disease (HD patients. In the general population, women are more prone to develop depression and such susceptibility might be related to serotonergic dysregulation. There is yet to be a study of sexual dimorphism in the development and presentation of depression in HD patients. We investigated whether 8-week-old male and female R6/1 transgenic HD mice display depressive-like endophenotypes associated with serotonergic impairments. We also studied the behavioral effects of acute treatment with sertraline. We found that only female HD mice exhibited a decreased preference for saccharin as well as impaired emotionality-related behaviors when assessed on the novelty-suppressed feeding test (NSFT and the forced-swimming test (FST. The exaggerated immobility time displayed by female HD in the FST was reduced by acute administration of sertraline. We also report an increased response to the 5-HT(1A receptor agonist 8-OH-DPAT in inducing hypothermia and a decreased 5-HT(2A receptor function in HD animals. While tissue levels of serotonin were reduced in both male and female HD mice, we found that serotonin concentration and hydroxylase-2 (TPH2 mRNA levels were higher in the hippocampus of males compared to female animals. Finally, the antidepressant-like effects of sertraline in the FST were blunted in male HD animals. This study reveals sex-specific depressive-related behaviors during an early stage of HD prior to any cognitive and motor deficits. Our data suggest a crucial role for disrupted serotonin signaling in mediating the sexually dimorphic depression-like phenotype in HD mice.

  12. Development of the Music Therapy Assessment Tool for Advanced Huntington's Disease: A Pilot Validation Study.

    Science.gov (United States)

    O'Kelly, Julian; Bodak, Rebeka

    2016-01-01

    Case studies of people with Huntington's disease (HD) report that music therapy provides a range of benefits that may improve quality of life; however, no robust music therapy assessment tools exist for this population. Develop and conduct preliminary psychometric testing of a music therapy assessment tool for patients with advanced HD. First, we established content and face validity of the Music Therapy Assessment Tool for Advanced HD (MATA-HD) through focus groups and field testing. Second, we examined psychometric properties of the resulting MATA-HD in terms of its construct validity, internal consistency, and inter-rater and intra-rater reliability over 10 group music therapy sessions with 19 patients. The resulting MATA-HD included a total of 15 items across six subscales (Arousal/Attention, Physical Presentation, Communication, Musical, Cognition, and Psychological/Behavioral). We found good construct validity (r ≥ 0.7) for Mood, Communication Level, Communication Effectiveness, Choice, Social Behavior, Arousal, and Attention items. Cronbach's α of 0.825 indicated good internal consistency across 11 items with a common focus of engagement in therapy. The inter-rater reliability (IRR) Intra-Class Coefficient (ICC) scores averaged 0.65, and a mean intra-rater ICC reliability of 0.68 was obtained. Further training and retesting provided a mean of IRR ICC of 0.7. Preliminary data indicate that the MATA-HD is a promising tool for measuring patient responses to music therapy interventions across psychological, physical, social, and communication domains of functioning in patients with advanced HD. © the American Music Therapy Association 2016. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  13. Recommendations for the Use of Automated Gray Matter Segmentation Tools: Evidence from Huntington's Disease.

    Science.gov (United States)

    Johnson, Eileanoir B; Gregory, Sarah; Johnson, Hans J; Durr, Alexandra; Leavitt, Blair R; Roos, Raymund A; Rees, Geraint; Tabrizi, Sarah J; Scahill, Rachael I

    2017-01-01

    The selection of an appropriate segmentation tool is a challenge facing any researcher aiming to measure gray matter (GM) volume. Many tools have been compared, yet there is currently no method that can be recommended above all others; in particular, there is a lack of validation in disease cohorts. This work utilizes a clinical dataset to conduct an extensive comparison of segmentation tools. Our results confirm that all tools have advantages and disadvantages, and we present a series of considerations that may be of use when selecting a GM segmentation method, rather than a ranking of these tools. Seven segmentation tools were compared using 3 T MRI data from 20 controls, 40 premanifest Huntington's disease (HD), and 40 early HD participants. Segmented volumes underwent detailed visual quality control. Reliability and repeatability of total, cortical, and lobular GM were investigated in repeated baseline scans. The relationship between each tool was also examined. Longitudinal within-group change over 3 years was assessed via generalized least squares regression to determine sensitivity of each tool to disease effects. Visual quality control and raw volumes highlighted large variability between tools, especially in occipital and temporal regions. Most tools showed reliable performance and the volumes were generally correlated. Results for longitudinal within-group change varied between tools, especially within lobular regions. These differences highlight the need for careful selection of segmentation methods in clinical neuroimaging studies. This guide acts as a primer aimed at the novice or non-technical imaging scientist providing recommendations for the selection of cohort-appropriate GM segmentation software.

  14. Screening for cognitive dysfunction in Huntington's disease with the clock drawing test.

    Science.gov (United States)

    Terwindt, Paul W; Hubers, Anna A M; Giltay, Erik J; van der Mast, Rose C; van Duijn, Erik

    2016-09-01

    The aim of the study is to investigate the performance of the clock drawing test as a screening tool for cognitive impairment in Huntington's disease (HD) mutation carriers. The performance of the clock drawing test was assessed in 65 mutation carriers using the Shulman and the Freund scoring systems. The mini-mental state examination, the Symbol Digit Modalities Test, the Verbal Fluency Test, and the Stroop tests were used as comparisons for the evaluation of cognitive functioning. Correlations of the clock drawing test with various cognitive tests (convergent validity), neuropsychiatric characteristics (divergent validity) and clinical characteristics were analysed using the Spearman's rank correlation coefficient. Receiver-operator characteristic analyses were performed for the clock drawing test against both the mini-mental state examination and against a composite variable for executive cognitive functioning to assess optimal cut-off scores. Inter-rater reliability was high for both the Shulman and Freund scoring systems (ICC = 0.95 and ICC = 0.90 respectively). The clock drawing tests showed moderate to high correlations with the composite variable for executive cognitive functioning (mean ρ = 0.75) and weaker correlations with the mini-mental state examination (mean ρ = 0.62). Mean sensitivity of the clock drawing tests was 0.82 and mean specificity was 0.79, whereas the mean positive predictive value was 0.66 and the mean negative predictive value was 0.87. The clock drawing test is a suitable screening instrument for cognitive dysfunction in HD, because it was shown to be accurate, particularly so with respect to executive cognitive functioning, and is easy and quick to use. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

  15. Impaired development of cortico-striatal synaptic connectivity in a cell culture model of Huntington's disease.

    Science.gov (United States)

    Buren, Caodu; Parsons, Matthew P; Smith-Dijak, Amy; Raymond, Lynn A

    2016-03-01

    Huntington's disease (HD) is a genetically inherited neurodegenerative disease caused by a mutation in the gene encoding the huntingtin protein. This mutation results in progressive cell death that is particularly striking in the striatum. Recent evidence indicates that early HD is initially a disease of the synapse, in which subtle alterations in synaptic neurotransmission, particularly at the cortico-striatal (C-S) synapse, can be detected well in advance of cell death. Here, we used a cell culture model in which striatal neurons are co-cultured with cortical neurons, and monitored the development of C-S connectivity up to 21days in vitro (DIV) in cells cultured from either the YAC128 mouse model of HD or the background strain, FVB/N (wild-type; WT) mice. Our data demonstrate that while C-S connectivity in WT co-cultures develops rapidly and continuously from DIV 7 to 21, YAC128 C-S connectivity shows no significant growth from DIV 14 onward. Morphological and electrophysiological data suggest that a combination of pre- and postsynaptic mechanisms contribute to this effect, including a reduction in both the postsynaptic dendritic arborization and the size and replenishment rate of the presynaptic readily releasable pool of excitatory vesicles. Moreover, a chimeric culture strategy confirmed that the most robust impairment in C-S connectivity was only observed when mutant huntingtin was expressed both pre- and postsynaptically. In all, our data demonstrate a progressive HD synaptic phenotype in this co-culture system that may be exploited as a platform for identifying promising therapeutic strategies to prevent early HD-associated synaptopathy. Copyright © 2015 Elsevier Inc. All rights reserved.

  16. A modifier of Huntington's disease onset at the MLH1 locus.

    Science.gov (United States)

    Lee, Jong-Min; Chao, Michael J; Harold, Denise; Abu Elneel, Kawther; Gillis, Tammy; Holmans, Peter; Jones, Lesley; Orth, Michael; Myers, Richard H; Kwak, Seung; Wheeler, Vanessa C; MacDonald, Marcy E; Gusella, James F

    2017-10-01

    Huntington's disease (HD) is a dominantly inherited neurodegenerative disease caused by an expanded CAG repeat in HTT. Many clinical characteristics of HD such as age at motor onset are determined largely by the size of HTT CAG repeat. However, emerging evidence strongly supports a role for other genetic factors in modifying the disease pathogenesis driven by mutant huntingtin. A recent genome-wide association analysis to discover genetic modifiers of HD onset age provided initial evidence for modifier loci on chromosomes 8 and 15 and suggestive evidence for a locus on chromosome 3. Here, genotyping of candidate single nucleotide polymorphisms in a cohort of 3,314 additional HD subjects yields independent confirmation of the former two loci and moves the third to genome-wide significance at MLH1, a locus whose mouse orthologue modifies CAG length-dependent phenotypes in a Htt-knock-in mouse model of HD. Both quantitative and dichotomous association analyses implicate a functional variant on ∼32% of chromosomes with the beneficial modifier effect that delays HD motor onset by 0.7 years/allele. Genomic DNA capture and sequencing of a modifier haplotype localize the functional variation to a 78 kb region spanning the 3'end of MLH1 and the 5'end of the neighboring LRRFIP2, and marked by an isoleucine-valine missense variant in MLH1. Analysis of expression Quantitative Trait Loci (eQTLs) provides modest support for altered regulation of MLH1 and LRRFIP2, raising the possibility that the modifier affects regulation of both genes. Finally, polygenic modification score and heritability analyses suggest the existence of additional genetic modifiers, supporting expanded, comprehensive genetic analysis of larger HD datasets. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  17. CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

    Science.gov (United States)

    Lee, J.-M.; Ramos, E.M.; Lee, J.-H.; Gillis, T.; Mysore, J.S.; Hayden, M.R.; Warby, S.C.; Morrison, P.; Nance, M.; Ross, C.A.; Margolis, R.L.; Squitieri, F.; Orobello, S.; Di Donato, S.; Gomez-Tortosa, E.; Ayuso, C.; Suchowersky, O.; Trent, R.J.A.; McCusker, E.; Novelletto, A.; Frontali, M.; Jones, R.; Ashizawa, T.; Frank, S.; Saint-Hilaire, M.H.; Hersch, S.M.; Rosas, H.D.; Lucente, D.; Harrison, M.B.; Zanko, A.; Abramson, R.K.; Marder, K.; Sequeiros, J.; Paulsen, J.S.; Landwehrmeyer, G.B.; Myers, R.H.; MacDonald, M.E.; Durr, Alexandra; Rosenblatt, Adam; Frati, Luigi; Perlman, Susan; Conneally, Patrick M.; Klimek, Mary Lou; Diggin, Melissa; Hadzi, Tiffany; Duckett, Ayana; Ahmed, Anwar; Allen, Paul; Ames, David; Anderson, Christine; Anderson, Karla; Anderson, Karen; Andrews, Thomasin; Ashburner, John; Axelson, Eric; Aylward, Elizabeth; Barker, Roger A.; Barth, Katrin; Barton, Stacey; Baynes, Kathleen; Bea, Alexandra; Beall, Erik; Beg, Mirza Faisal; Beglinger, Leigh J.; Biglan, Kevin; Bjork, Kristine; Blanchard, Steve; Bockholt, Jeremy; Bommu, Sudharshan Reddy; Brossman, Bradley; Burrows, Maggie; Calhoun, Vince; Carlozzi, Noelle; Chesire, Amy; Chiu, Edmond; Chua, Phyllis; Connell, R.J.; Connor, Carmela; Corey-Bloom, Jody; Craufurd, David; Cross, Stephen; Cysique, Lucette; Santos, Rachelle Dar; Davis, Jennifer; Decolongon, Joji; DiPietro, Anna; Doucette, Nicholas; Downing, Nancy; Dudler, Ann; Dunn, Steve; Ecker, Daniel; Epping, Eric A.; Erickson, Diane; Erwin, Cheryl; Evans, Ken; Factor, Stewart A.; Farias, Sarah; Fatas, Marta; Fiedorowicz, Jess; Fullam, Ruth; Furtado, Sarah; Garde, Monica Bascunana; Gehl, Carissa; Geschwind, Michael D.; Goh, Anita; Gooblar, Jon; Goodman, Anna; Griffith, Jane; Groves, Mark; Guttman, Mark; Hamilton, Joanne; Harrington, Deborah; Harris, Greg; Heaton, Robert K.; Helmer, Karl; Henneberry, Machelle; Hershey, Tamara; Herwig, Kelly; Howard, Elizabeth; Hunter, Christine; Jankovic, Joseph; Johnson, Hans; Johnson, Arik; Jones, Kathy; Juhl, Andrew; Kim, Eun Young; Kimble, Mycah; King, Pamela; Klimek, Mary Lou; Klöppel, Stefan; Koenig, Katherine; Komiti, Angela; Kumar, Rajeev; Langbehn, Douglas; Leavitt, Blair; Leserman, Anne; Lim, Kelvin; Lipe, Hillary; Lowe, Mark; Magnotta, Vincent A.; Mallonee, William M.; Mans, Nicole; Marietta, Jacquie; Marshall, Frederick; Martin, Wayne; Mason, Sarah; Matheson, Kirsty; Matson, Wayne; Mazzoni, Pietro; McDowell, William; Miedzybrodzka, Zosia; Miller, Michael; Mills, James; Miracle, Dawn; Montross, Kelsey; Moore, David; Mori, Sasumu; Moser, David J.; Moskowitz, Carol; Newman, Emily; Nopoulos, Peg; Novak, Marianne; O'Rourke, Justin; Oakes, David; Ondo, William; Orth, Michael; Panegyres, Peter; Pease, Karen; Perlman, Susan; Perlmutter, Joel; Peterson, Asa; Phillips, Michael; Pierson, Ron; Potkin, Steve; Preston, Joy; Quaid, Kimberly; Radtke, Dawn; Rae, Daniela; Rao, Stephen; Raymond, Lynn; Reading, Sarah; Ready, Rebecca; Reece, Christine; Reilmann, Ralf; Reynolds, Norm; Richardson, Kylie; Rickards, Hugh; Ro, Eunyoe; Robinson, Robert; Rodnitzky, Robert; Rogers, Ben; Rosenblatt, Adam; Rosser, Elisabeth; Rosser, Anne; Price, Kathy; Price, Kathy; Ryan, Pat; Salmon, David; Samii, Ali; Schumacher, Jamy; Schumacher, Jessica; Sendon, Jose Luis Lópenz; Shear, Paula; Sheinberg, Alanna; Shpritz, Barnett; Siedlecki, Karen; Simpson, Sheila A.; Singer, Adam; Smith, Jim; Smith, Megan; Smith, Glenn; Snyder, Pete; Song, Allen; Sran, Satwinder; Stephan, Klaas; Stober, Janice; Sü?muth, Sigurd; Suter, Greg; Tabrizi, Sarah; Tempkin, Terry; Testa, Claudia; Thompson, Sean; Thomsen, Teri; Thumma, Kelli; Toga, Arthur; Trautmann, Sonja; Tremont, Geoff; Turner, Jessica; Uc, Ergun; Vaccarino, Anthony; van Duijn, Eric; Van Walsem, Marleen; Vik, Stacie; Vonsattel, Jean Paul; Vuletich, Elizabeth; Warner, Tom; Wasserman, Paula; Wassink, Thomas; Waterman, Elijah; Weaver, Kurt; Weir, David; Welsh, Claire; Werling-Witkoske, Chris; Wesson, Melissa; Westervelt, Holly; Weydt, Patrick; Wheelock, Vicki; Williams, Kent; Williams, Janet; Wodarski, Mary; Wojcieszek, Joanne; Wood, Jessica; Wood-Siverio, Cathy; Wu, Shuhua; Yastrubetskaya, Olga; de Yebenes, Justo Garcia; Zhao, Yong Qiang; Zimbelman, Janice; Zschiegner, Roland; Aaserud, Olaf; Abbruzzese, Giovanni; Andrews, Thomasin; Andrich, Jurgin; Antczak, Jakub; Arran, Natalie; Artiga, Maria J. Saiz; Bachoud-Lévi, Anne-Catherine; Banaszkiewicz, Krysztof; di Poggio, Monica Bandettini; Bandmann, Oliver; Barbera, Miguel A.; Barker, Roger A.; Barrero, Francisco; Barth, Katrin; Bas, Jordi; Beister, Antoine; Bentivoglio, Anna Rita; Bertini, Elisabetta; Biunno, Ida; Bjørgo, Kathrine; Bjørnevoll, Inga; Bohlen, Stefan; Bonelli, Raphael M.; Bos, Reineke; Bourne, Colin; Bradbury, Alyson; Brockie, Peter; Brown, Felicity; Bruno, Stefania; Bryl, Anna; Buck, Andrea; Burg, Sabrina; Burgunder, Jean-Marc; Burns, Peter; Burrows, Liz; Busquets, Nuria; Busse, Monica; Calopa, Matilde; Carruesco, Gemma T.; Casado, Ana Gonzalez; Catena, Judit López; Chu, Carol; Ciesielska, Anna; Clapton, Jackie; Clayton, Carole; Clenaghan, Catherine; Coelho, Miguel; Connemann, Julia; Craufurd, David; Crooks, Jenny; Cubillo, Patricia Trigo; Cubo, Esther; Curtis, Adrienne; De Michele, Giuseppe; De Nicola, A.; de Souza, Jenny; de Weert, A. Marit; de Yébenes, Justo Garcia; Dekker, M.; Descals, A. Martínez; Di Maio, Luigi; Di Pietro, Anna; Dipple, Heather; Dose, Matthias; Dumas, Eve M.; Dunnett, Stephen; Ecker, Daniel; Elifani, F.; Ellison-Rose, Lynda; Elorza, Marina D.; Eschenbach, Carolin; Evans, Carole; Fairtlough, Helen; Fannemel, Madelein; Fasano, Alfonso; Fenollar, Maria; Ferrandes, Giovanna; Ferreira, Jaoquim J.; Fillingham, Kay; Finisterra, Ana Maria; Fisher, K.; Fletcher, Amy; Foster, Jillian; Foustanos, Isabella; Frech, Fernando A.; Fullam, Robert; Fullham, Ruth; Gago, Miguel; García, RocioGarcía-Ramos; García, Socorro S.; Garrett, Carolina; Gellera, Cinzia; Gill, Paul; Ginestroni, Andrea; Golding, Charlotte; Goodman, Anna; Gørvell, Per; Grant, Janet; Griguoli, A.; Gross, Diana; Guedes, Leonor; BascuñanaGuerra, Monica; Guerra, Maria Rosalia; Guerrero, Rosa; Guia, Dolores B.; Guidubaldi, Arianna; Hallam, Caroline; Hamer, Stephanie; Hammer, Kathrin; Handley, Olivia J.; Harding, Alison; Hasholt, Lis; Hedge, Reikha; Heiberg, Arvid; Heinicke, Walburgis; Held, Christine; Hernanz, Laura Casas; Herranhof, Briggitte; Herrera, Carmen Durán; Hidding, Ute; Hiivola, Heli; Hill, Susan; Hjermind, Lena. E.; Hobson, Emma; Hoffmann, Rainer; Holl, Anna Hödl; Howard, Liz; Hunt, Sarah; Huson, Susan; Ialongo, Tamara; Idiago, Jesus Miguel R.; Illmann, Torsten; Jachinska, Katarzyna; Jacopini, Gioia; Jakobsen, Oda; Jamieson, Stuart; Jamrozik, Zygmunt; Janik, Piotr; Johns, Nicola; Jones, Lesley; Jones, Una; Jurgens, Caroline K.; Kaelin, Alain; Kalbarczyk, Anna; Kershaw, Ann; Khalil, Hanan; Kieni, Janina; Klimberg, Aneta; Koivisto, Susana P.; Koppers, Kerstin; Kosinski, Christoph Michael; Krawczyk, Malgorzata; Kremer, Berry; Krysa, Wioletta; Kwiecinski, Hubert; Lahiri, Nayana; Lambeck, Johann; Lange, Herwig; Laver, Fiona; Leenders, K.L.; Levey, Jamie; Leythaeuser, Gabriele; Lezius, Franziska; Llesoy, Joan Roig; Löhle, Matthias; López, Cristobal Diez-Aja; Lorenza, Fortuna; Loria, Giovanna; Magnet, Markus; Mandich, Paola; Marchese, Roberta; Marcinkowski, Jerzy; Mariotti, Caterina; Mariscal, Natividad; Markova, Ivana; Marquard, Ralf; Martikainen, Kirsti; Martínez, Isabel Haro; Martínez-Descals, Asuncion; Martino, T.; Mason, Sarah; McKenzie, Sue; Mechi, Claudia; Mendes, Tiago; Mestre, Tiago; Middleton, Julia; Milkereit, Eva; Miller, Joanne; Miller, Julie; Minster, Sara; Möller, Jens Carsten; Monza, Daniela; Morales, Blas; Moreau, Laura V.; Moreno, Jose L. López-Sendón; Münchau, Alexander; Murch, Ann; Nielsen, Jørgen E.; Niess, Anke; Nørremølle, Anne; Novak, Marianne; O'Donovan, Kristy; Orth, Michael; Otti, Daniela; Owen, Michael; Padieu, Helene; Paganini, Marco; Painold, Annamaria; Päivärinta, Markku; Partington-Jones, Lucy; Paterski, Laurent; Paterson, Nicole; Patino, Dawn; Patton, Michael; Peinemann, Alexander; Peppa, Nadia; Perea, Maria Fuensanta Noguera; Peterson, Maria; Piacentini, Silvia; Piano, Carla; Càrdenas, Regina Pons i; Prehn, Christian; Price, Kathleen; Probst, Daniela; Quarrell, Oliver; Quiroga, Purificacion Pin; Raab, Tina; Rakowicz, Maryla; Raman, Ashok; Raymond, Lucy; Reilmann, Ralf; Reinante, Gema; Reisinger, Karin; Retterstol, Lars; Ribaï, Pascale; Riballo, Antonio V.; Ribas, Guillermo G.; Richter, Sven; Rickards, Hugh; Rinaldi, Carlo; Rissling, Ida; Ritchie, Stuart; Rivera, Susana Vázquez; Robert, Misericordia Floriach; Roca, Elvira; Romano, Silvia; Romoli, Anna Maria; Roos, Raymond A.C.; Røren, Niini; Rose, Sarah; Rosser, Elisabeth; Rosser, Anne; Rossi, Fabiana; Rothery, Jean; Rudzinska, Monika; Ruíz, Pedro J. García; Ruíz, Belan Garzon; Russo, Cinzia Valeria; Ryglewicz, Danuta; Saft, Carston; Salvatore, Elena; Sánchez, Vicenta; Sando, Sigrid Botne; Šašinková, Pavla; Sass, Christian; Scheibl, Monika; Schiefer, Johannes; Schlangen, Christiane; Schmidt, Simone; Schöggl, Helmut; Schrenk, Caroline; Schüpbach, Michael; Schuierer, Michele; Sebastián, Ana Rojo; Selimbegovic-Turkovic, Amina; Sempolowicz, Justyna; Silva, Mark; Sitek, Emilia; Slawek, Jaroslaw; Snowden, Julie; Soleti, Francesco; Soliveri, Paola; Sollom, Andrea; Soltan, Witold; Sorbi, Sandro; Sorensen, Sven Asger; Spadaro, Maria; Städtler, Michael; Stamm, Christiane; Steiner, Tanja; Stokholm, Jette; Stokke, Bodil; Stopford, Cheryl; Storch, Alexander; Straßburger, Katrin; Stubbe, Lars; Sulek, Anna; Szczudlik, Andrzej; Tabrizi, Sarah; Taylor, Rachel; Terol, Santiago Duran-Sindreu; Thomas, Gareth; Thompson, Jennifer; Thomson, Aileen; Tidswell, Katherine; Torres, Maria M. Antequera; Toscano, Jean; Townhill, Jenny; Trautmann, Sonja; Tucci, Tecla; Tuuha, Katri; Uhrova, Tereza; Valadas, Anabela; van Hout, Monique S.E.; van Oostrom, J.C.H.; van Vugt, Jeroen P.P.; vanm, Walsem Marleen R.; Vandenberghe, Wim; Verellen-Dumoulin, Christine; Vergara, Mar Ruiz; Verstappen, C.C.P.; Verstraelen, Nichola; Viladrich, Celia Mareca; Villanueva, Clara; Wahlström, Jan; Warner, Thomas; Wehus, Raghild; Weindl, Adolf; Werner, Cornelius J.; Westmoreland, Leann; Weydt, Patrick; Wiedemann, Alexandra; Wild, Edward; Wild, Sue; Witjes-Ané, Marie-Noelle; Witkowski, Grzegorz; Wójcik, Magdalena; Wolz, Martin; Wolz, Annett; Wright, Jan; Yardumian, Pam; Yates, Shona; Yudina, Elizaveta; Zaremba, Jacek; Zaugg, Sabine W.; Zdzienicka, Elzbieta; Zielonka, Daniel; Zielonka, Euginiusz; Zinzi, Paola; Zittel, Simone; Zucker, Birgrit; Adams, John; Agarwal, Pinky; Antonijevic, Irina; Beck, Christopher; Chiu, Edmond; Churchyard, Andrew; Colcher, Amy; Corey-Bloom, Jody; Dorsey, Ray; Drazinic, Carolyn; Dubinsky, Richard; Duff, Kevin; Factor, Stewart; Foroud, Tatiana; Furtado, Sarah; Giuliano, Joe; Greenamyre, Timothy; Higgins, Don; Jankovic, Joseph; Jennings, Dana; Kang, Un Jung; Kostyk, Sandra; Kumar, Rajeev; Leavitt, Blair; LeDoux, Mark; Mallonee, William; Marshall, Frederick; Mohlo, Eric; Morgan, John; Oakes, David; Panegyres, Peter; Panisset, Michel; Perlman, Susan; Perlmutter, Joel; Quaid, Kimberly; Raymond, Lynn; Revilla, Fredy; Robertson, Suzanne; Robottom, Bradley; Sanchez-Ramos, Juan; Scott, Burton; Shannon, Kathleen; Shoulson, Ira; Singer, Carlos; Tabbal, Samer; Testa, Claudia; van, Kammen Dan; Vetter, Louise; Walker, Francis; Warner, John; Weiner, illiam; Wheelock, Vicki; Yastrubetskaya, Olga; Barton, Stacey; Broyles, Janice; Clouse, Ronda; Coleman, Allison; Davis, Robert; Decolongon, Joji; DeLaRosa, Jeanene; Deuel, Lisa; Dietrich, Susan; Dubinsky, Hilary; Eaton, Ken; Erickson, Diane; Fitzpatrick, Mary Jane; Frucht, Steven; Gartner, Maureen; Goldstein, Jody; Griffith, Jane; Hickey, Charlyne; Hunt, Victoria; Jaglin, Jeana; Klimek, Mary Lou; Lindsay, Pat; Louis, Elan; Loy, Clemet; Lucarelli, Nancy; Malarick, Keith; Martin, Amanda; McInnis, Robert; Moskowitz, Carol; Muratori, Lisa; Nucifora, Frederick; O'Neill, Christine; Palao, Alicia; Peavy, Guerry; Quesada, Monica; Schmidt, Amy; Segro, Vicki; Sperin, Elaine; Suter, Greg; Tanev, Kalo; Tempkin, Teresa; Thiede, Curtis; Wasserman, Paula; Welsh, Claire; Wesson, Melissa; Zauber, Elizabeth

    2012-01-01

    Objective: Age at onset of diagnostic motor manifestations in Huntington disease (HD) is strongly correlated with an expanded CAG trinucleotide repeat. The length of the normal CAG repeat allele has been reported also to influence age at onset, in interaction with the expanded allele. Due to profound implications for disease mechanism and modification, we tested whether the normal allele, interaction between the expanded and normal alleles, or presence of a second expanded allele affects age at onset of HD motor signs. Methods: We modeled natural log-transformed age at onset as a function of CAG repeat lengths of expanded and normal alleles and their interaction by linear regression. Results: An apparently significant effect of interaction on age at motor onset among 4,068 subjects was dependent on a single outlier data point. A rigorous statistical analysis with a well-behaved dataset that conformed to the fundamental assumptions of linear regression (e.g., constant variance and normally distributed error) revealed significance only for the expanded CAG repeat, with no effect of the normal CAG repeat. Ten subjects with 2 expanded alleles showed an age at motor onset consistent with the length of the larger expanded allele. Conclusions: Normal allele CAG length, interaction between expanded and normal alleles, and presence of a second expanded allele do not influence age at onset of motor manifestations, indicating that the rate of HD pathogenesis leading to motor diagnosis is determined by a completely dominant action of the longest expanded allele and as yet unidentified genetic or environmental factors. Neurology® 2012;78:690–695 PMID:22323755

  18. Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progression.

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    Fanny Mochel

    Full Text Available Huntington disease (HD is a fatal neurodegenerative disorder, with no effective treatment. The pathogenic mechanisms underlying HD has not been elucidated, but weight loss, associated with chorea and cognitive decline, is a characteristic feature of the disease that is accessible to investigation. We, therefore, performed a multiparametric study exploring body weight and the mechanisms of its loss in 32 presymptomatic carriers and HD patients in the early stages of the disease, compared to 21 controls. We combined this study with a multivariate statistical analysis of plasma components quantified by proton nuclear magnetic resonance ((1H NMR spectroscopy. We report evidence of an early hypermetabolic state in HD. Weight loss was observed in the HD group even in presymptomatic carriers, although their caloric intake was higher than that of controls. Inflammatory processes and primary hormonal dysfunction were excluded. (1H NMR spectroscopy on plasma did, however, distinguish HD patients at different stages of the disease and presymptomatic carriers from controls. This distinction was attributable to low levels of the branched chain amino acids (BCAA, valine, leucine and isoleucine. BCAA levels were correlated with weight loss and, importantly, with disease progression and abnormal triplet repeat expansion size in the HD1 gene. Levels of IGF1, which is regulated by BCAA, were also significantly lower in the HD group. Therefore, early weight loss in HD is associated with a systemic metabolic defect, and BCAA levels may be used as a biomarker, indicative of disease onset and early progression. The decreased plasma levels of BCAA may correspond to a critical need for Krebs cycle energy substrates in the brain that increased metabolism in the periphery is trying to provide.

  19. Overlap between age-at-onset and disease-progression determinants in Huntington disease.

    Science.gov (United States)

    Aziz, N Ahmad; van der Burg, Jorien M M; Tabrizi, Sarah J; Landwehrmeyer, G Bernhard

    2018-05-09

    A fundamental but still unresolved issue regarding Huntington disease (HD) pathogenesis is whether the factors that determine age at onset are the same as those that govern disease progression. Because elucidation of this issue is crucial for the development as well as optimal timing of administration of novel disease-modifying therapies, we aimed to assess the extent of overlap between age-at-onset and disease-progression determinants in HD. Using observational data from Enroll-HD, the largest cohort of patients with HD worldwide, in this study we present, validate, and apply an intuitive method based on linear mixed-effect models to quantify the variability in the rate of disease progression in HD. A total of 3,411 patients with HD met inclusion criteria. We found that (1) about two-thirds of the rate of functional, motor, and cognitive progression in HD is determined by the same factors that also determine age at onset, with CAG repeat-dependent mechanisms having by far the largest effect; (2) although expanded HTT CAG repeat size had a large influence on average body weight, the rate of weight loss was largely independent of factors that determine age at onset in HD; and (3) about one-third of the factors that determine the rate of functional, motor, and cognitive progression are different from those that govern age at onset and need further elucidation. Our findings imply that targeting of CAG repeat-dependent mechanisms, for example through gene-silencing approaches, is likely to affect the rate of functional, motor, and cognitive impairment, but not weight loss, in manifest HD mutation carriers. Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

  20. Thalamic metabolic abnormalities in patients with Huntington's disease measured by magnetic resonance spectroscopy

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    Casseb, R.F.; Castellano, G., E-mail: gabriela@ifi.unicamp.br [Cooperacao Interinstitucional de Apoio a Pesquisas sobre o Cerebro (Programa CInAPCe), Sao Paulo, SP (Brazil); Universidade Estadual de Campinas (UNICAMP), SP (Brazil). Instituto de Fisica Gleb Wataghin. Dept. de Raios Cosmicos e Cronologia; D' Abreu, A.; Cendes, F. [Universidade Estadual de Campinas (UNICAMP), SP (Brazil). Dept. de Neurologia. Lab. de Neuroimagem; Cooperacao Interinstitucional de Apoio a Pesquisas sobre o Cerebro (Programa CInAPCe), Sao Paulo, SP (Brazil); Ruocco, H.H. [Universidade Estadual de Campinas (UNICAMP), SP (Brazil). Fac. de Ciencias Medicas. Dept. de Neurologia. Lab. de Neuroimagem; Lopes-Cendes, I., E-mail: seixas.fk@gmail.com [Universidade Estadual de Campinas (UNICAMP), SP (Brazil). Fac. de Ciencias Medicas. Dept. de Genetica Medica; Cooperacao Interinstitucional de Apoio a Pesquisas sobre o Cerebro (Programa CInAPCe), Sao Paulo, SP (Brazil)

    2013-08-15

    Huntington's disease (HD) is a neurologic disorder that is not completely understood; its fundamental physiological mechanisms and chemical effects remain somewhat unclear. Among these uncertainties, we can highlight information about the concentrations of brain metabolites, which have been widely discussed. Concentration differences in affected, compared to healthy, individuals could lead to the development of useful tools for evaluating the progression of disease, or to the advance of investigations of different/alternative treatments. The aim of this study was to compare the thalamic concentration of metabolites in HD patients and healthy individuals using magnetic resonance spectroscopy. We used a 2.0-Tesla magnetic field, repetition time of 1500 ms, and echo time of 135 ms. Spectra from 40 adult HD patients and 26 control subjects were compared. Quantitative analysis was performed using the LCModel method. There were statistically significant differences between HD patients and controls in the concentrations of N-acetylaspartate+N-acetylaspartylglutamate (NAA+NAAG; t-test, P,0.001), and glycerophosphocholine+phosphocholine (GPC+PCh; t-test, P=0.001) relative to creatine+phosphocreatine (Cr+PCr). The NAA+NAAG/Cr+PCr ratio was decreased by 9% and GPC+PCh/Cr+PCr increased by 17% in patients compared with controls. There were no correlations between the concentration ratios and clinical features. Although these results could be caused by T1 and T2 changes, rather than variations in metabolite concentrations given the short repetition time and long echo time values used, our findings point to thalamic dysfunction, corroborating prior evidence. (author)