WorldWideScience

Sample records for huntington lake quadrangle

  1. 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,...

  2. Aerial gamma ray and magnetic survey, Huntington quadrangle: Ohio, West Virginia and Kentucky. Final report

    Energy Technology Data Exchange (ETDEWEB)

    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.

  3. Geologic map of the Granite 7.5' quadrangle, Lake and Chaffee Counties, Colorado

    Science.gov (United States)

    Shroba, Ralph R.; Kellogg, Karl S.; Brandt, Theodore R.

    2014-01-01

    The geologic map of the Granite 7.5' quadrangle, Lake and Chaffee Counties, Colorado, portrays the geology in the upper Arkansas valley and along the lower flanks of the Sawatch Range and Mosquito Range near the town of Granite. The oldest rocks, exposed in the southern and eastern parts of the quadrangle, include gneiss and plutonic rocks of Paleoproterozoic age. These rocks are intruded by younger plutonic rocks of Mesoproterozoic age. Felsic hypabyssal dikes, plugs, and plutons, ranging in age from Late Cretaceous or Paleocene to late Oligocene, locally intruded Proterozoic rocks. A small andesite lava flow of upper Oligocene age overlies Paleoproterozoic rock, just south of the Twin Lakes Reservoir. Gravelly fluvial and fan deposits of the Miocene and lower Pliocene(?) Dry Union Formation are preserved in the post-30 Ma upper Arkansas valley graben, a northern extension of the Rio Grande rift. Mostly north-northwest-trending faults displace deposits of the Dry Union Formation and older rock units. Light detection and ranging (lidar) imagery suggests that two short faults, near the Arkansas River, may displace surficial deposits as young as middle Pleistocene. Surficial deposits of middle Pleistocene to Holocene age are widespread in the Granite quadrangle, particularly in the major valleys and on slopes underlain by the Dry Union Formation. The main deposits are glacial outwash and post-glacial alluvium; mass-movement deposits transported by creep, debris flow, landsliding, and rockfall; till deposited during the Pinedale, Bull Lake, and pre-Bull Lake glaciations; rock-glacier deposits; and placer-tailings deposits formed by hydraulic mining and other mining methods used to concentrate native gold. Hydrologic and geologic processes locally affect use of the land and locally may be of concern regarding the stability of buildings and infrastructure, chiefly in low-lying areas along and near stream channels and locally in areas of moderate to steep slopes. Low

  4. Geologic map of the Harvard Lakes 7.5' quadrangle, Park and Chaffee Counties, Colorado

    Science.gov (United States)

    Kellogg, Karl S.; Lee, Keenan; Premo, Wayne R.; Cosca, Michael A.

    2013-01-01

    The Harvard Lakes 1:24,000-scale quadrangle spans the Arkansas River Valley in central Colorado, and includes the foothills of the Sawatch Range on the west and Mosquito Range on the east. The Arkansas River valley lies in the northern end of the Rio Grande rift and is structurally controlled by Oligocene and younger normal faults mostly along the west side of the valley. Five separate pediment surfaces were mapped, and distinctions were made between terraces formed by the Arkansas River and surfaces that formed from erosion and alluviation that emanated from the Sawatch Range. Three flood deposits containing boulders as long as 15 m were deposited from glacial breakouts just north of the quadrangle. Miocene and Pliocene basin-fill deposits of the Dry Union Formation are exposed beneath terrace or pediment deposits in several places. The southwestern part of the late Eocene Buffalo Peaks volcanic center, mostly andesitic breccias and flows and ash-flow tuffs, occupy the northeastern corner of the map. Dated Tertiary intrusive rocks include Late Cretaceous or early Paleocene hornblende gabbro and hornblende monzonite. Numerous rhyolite and dacite dikes of inferred early Tertiary or Late Cretaceous age also intrude the basement rocks. Basement rocks are predominantly Mesoproterozoic granites, and subordinately Paleoproterozoic biotite gneiss and granitic gneiss.

  5. Geologic map and sections of the Holy Cross Quadrangle, Eagle, Lake, Pitkin, and Summit counties, Colorado

    Science.gov (United States)

    Tweto, Ogden; Digital edition and database by Brandt, Theodore R.

    1974-01-01

    This map was first published as a printed edition in 1974. The geologic data have now been captured digitally and are presented here along with images of the printed map sheets. The map encompasses the area of four 7.5-minute quadrangles between 39º15' and 39º 30'N and 106º15' and 106º30'W in the Sawatch and Gore mountain ranges, and upper part of the Arkansas River drainage in central Colorado. The Holy Cross geologic map depicts in detail the complex geology at the north end of the Sawatch Range on the west at its junction with south end of the Gore Range on the east. The ranges are separated in the southern part of the map area by the upper reaches of the Arkansas River, and in the northeast part by the narrow valley of the upper Eagle River. Sixty map units and numerous individual beds and thin units within the principal map units are shown. Paleoproterozoic and Mesoproterozoic metamorphic rocks are the principal rocks of the Sawatch Range. In the Gore Range, lower and upper Paleozoic sedimentary rocks rest unconformably on the Precambrian metamorphic rocks. Paleozoic rocks that range in age from Upper Cambrian though Middle Pennsylvanian support the Gore Range along the eastern quarter of the map. The sequence includes a basal quartzite overlain by interbedded, shale, dolomite, quartzite, and sandstone. The Leadville Dolomite, below the dark shale, is the host rock for the ore deposits at Leadville and the neighboring lead-zinc-silver districts. A wide range of Miocene to Cretaceous intrusive rocks dip east off the Sawatch Range. The Dry Union Formation of Pliocene and Miocene age fills the valley of the Arkansas River and is covered by Quaternary alluvium and glacial sediment. Glacial deposits of Bull Lake, Pinedale, and neoglacial age are present in many of the mountain valleys. The geologic structure of the quadrangle is complex in geometry and time with a distinct structural and geographic break along the west front of the Gore Range in the eastern

  6. Quaternary geologic map of the White Lake 4° x 6° quadrangle, United States

    Science.gov (United States)

    State compilations by Pope, David E.; Gilliland, William A.; Wermund, E.G.; edited and integrated by Richmond, Gerald Martin; Weide, David L.; Moore, David W.; Digital edition by Bush, Charles A.

    1990-01-01

    This map is part of the Quaternary Geologic Atlas of the United States (I-1420). It was first published as a printed edition in 1990. The geologic data have now been captured digitally and are presented here along with images of the printed map sheet and component parts as PDF files. The Quaternary Geologic Map of the White Lake 4° x 6° Quadrangle was mapped as part of the Quaternary Geologic Atlas of the United States. The atlas was begun as an effort to depict the areal distribution of surficial geologic deposits and other materials that accumulated or formed during the past 2+ million years, the period that includes all activities of the human species. These materials are at the surface of the Earth. They make up the ground on which we walk, the dirt in which we dig foundations, and the soil in which we grow crops. Most of our human activity is related in one way or another to these surface materials that are referred to collectively by many geologists as regolith, the mantle of fragmental and generally unconsolidated material that overlies the bedrock foundation of the continent. The maps were compiled at 1:1,000,000 scale. In recent years, surficial deposits and materials have become the focus of much interest by scientists, environmentalists, governmental agencies, and the general public. They are the foundations of ecosystems, the materials that support plant growth and animal habitat, and the materials through which travels much of the water required for our agriculture, our industry, and our general well being. They also are materials that easily can become contaminated by pesticides, fertilizers, and toxic wastes. In this context, the value of the surficial geologic map is evident.

  7. The Conterminous United States Mineral Appraisal Program; background information to accompany folio of geologic, geochemical, geophysical, and mineral resources maps of the Walker Lake 1 degree x 2 degrees Quadrangle, California and Nevada

    Science.gov (United States)

    Stewart, John Harris; Chaffee, M.A.; Dohrenwend, J.C.; John, D.A.; Kistler, R.W.; Kleinhampl, F.J.; Menzie, W.D.; Plouff, Donald; Rowan, L.C.; Silberling, Norman J.

    1984-01-01

    The Walker Lake 1? by 2? quadrangle in eastern California and western Nevada was studied by an interdisciplinary research team to appraise its mineral resources. The appraisal is based on geological, geochemical, and geophysical field and laboratory investigations, the results of which are published as a folio of maps, figures, and tables, with accompanying discussions. This circular provides background information on the investigations and integrates the information presented in the folio. The selected bibliography lists selected references to the geology, geochemistry, geophysics, and mineral deposits of the Walker Lake 1? by 2? quadrangle.

  8. Huntington's Disease

    Science.gov (United States)

    Huntington's disease (HD) is an inherited disease that causes certain nerve cells in the brain to waste ... express emotions. If one of your parents has Huntington's disease, you have a 50 percent chance of ...

  9. Quaternary Geologic Map of the Lake Nipigon 4 Degrees x 6 Degrees Quadrangle, United States and Canada

    Science.gov (United States)

    Sado, Edward V.; Fullerton, David S.; Farrand, William R.; Edited and Integrated by Fullerton, David S.

    1994-01-01

    The Quaternary Geologic Map of the Lake Nipigon 4 degree x 6 degree Quadrangle was mapped as part of the Quaternary Geologic Atlas of the United States. The atlas was begun as an effort to depict the areal distribution of surficial geologic deposits and other materials that accumulated or formed during the past 2+ million years, the period that includes all activities of the human species. These materials are at the surface of the earth. They make up the 'ground' on which we walk, the 'dirt' in which we dig foundations, and the 'soil' in which we grow crops. Most of our human activity is related in one way or another to these surface materials that are referred to collectively by many geologists as regolith, the mantle of fragmental and generally unconsolidated material that overlies the bedrock foundation of the continent. The maps were compiled at 1:1,000,000 scale. This map is a product of collaboration of the Ontario Geological Survey, the University of Michigan, and the U.S. Geological Survey, and is designed for both scientific and practical purposes. It was prepared in two stages. First, separate maps and map explanations were prepared by the compilers. Second, the maps were combined, integrated, and supplemented by the editor. Map unit symbols were revised to a uniform system of classification and the map unit descriptions were prepared by the editor from information received from the compilers and from additional sources listed under Sources of Information. Diagrams accompanying the map were prepared by the editor. For scientific purposes, the map differentiates Quaternary surficial deposits on the basis of lithology or composition, texture or particle size, structure, genesis, stratigraphic relationships, engineering geologic properties, and relative age, as shown on the correlation diagram and indicated in the map unit descriptions. Deposits of some constructional landforms, such as kame moraine deposits, are distinguished as map units. Deposits of

  10. Quaternary Geologic Map of the Lake of the Woods 4 Degrees x 6 Degrees Quadrangle, United States and Canada

    Science.gov (United States)

    Sado, Edward V.; Fullerton, David S.; Goebel, Joseph E.; Ringrose, Susan M.; Edited and Integrated by Fullerton, David S.

    1995-01-01

    The Quaternary Geologic Map of the Lake of the Woods 4 deg x 6 deg Quadrangle, United States and Canada, was mapped as part of the U.S. Geological Survey Quaternary Geologic Atlas of the United States map series (Miscellaneous Investigations Series I-1420, NM-15). The atlas was begun as an effort to depict the areal distribution of surficial geologic deposits and other materials that accumulated or formed during the past 2+ million years, the period that includes all activities of the human species. These materials are at the surface of the earth. They make up the 'ground' on which we walk, the 'dirt' in which we dig foundations, and the 'soil' in which we grow crops. Most of our human activity is related in one way or another to these surface materials that are referred to collectively by many geologists as regolith, the mantle of fragmental and generally unconsolidated material that overlies the bedrock foundation of the continent. The maps were compiled at 1:1,000,000 scale. This map is a product of collaboration of the Ontario Geological Survey, the Minnesota Geological Survey, the Manitoba Department of Energy and Mines, and the U.S. Geological Survey, and is designed for both scientific and practical purposes. It was prepared in two stages. First, separate maps and map explanations were prepared by the compilers. Second, the maps were combined, integrated, and supplemented by the editor. Map unit symbols were revised to a uniform system of classification and the map unit descriptions were prepared by the editor from information received from the compilers and from additional sources listed under Sources of Information. Diagrams accompanying the map were prepared by the editor. For scientific purposes, the map differentiates Quaternary surficial deposits on the basis of lithology or composition, texture or particle size, structure, genesis, stratigraphic relationships, engineering geologic properties, and relative age, as shown on the correlation diagram and

  11. Map showing the thickness of loosely packed sediments and the depth to bedrock in the Sugar House quadrangle, Salt Lake County, Utah

    Science.gov (United States)

    McGregor, Edward E.; Van Horn, Richard; Arnow, Ted

    1974-01-01

    This map provides information on the location and distribution of three general types of geologic materials in part of Salt Lake County, including the southeastern part of Salt Lake City, Utah. These materials have different physical properties that are pertinent to comprehensive planning and zoning, land-use studies, and engineering usage. The map should be of use in preliminary studies to determine the depth to different  general types of foundation material and to determine the potential for settlement of the ground surface during major earthquakes, which could result in damage to waterlines, gaslines, large buildings, and other major engineering structures.The lines on the map are generalized. Lines showing the thickness of loosely packed sediments are based on drillers’ logs of 27 water wells in and near the 35-square-mile part of the quadrangle west of the mountains – less than one data point for each square mile. Lines showing the depth to bedrock are based on indirect geophysical data, and the data points are more widely scattered. The map may be useful as a general guide in planning, but investigations by qualified specialists should be made for detailed evaluations of specific areas.references to other reports of possible interest to the reader are included at the end of this text.

  12. First record of Ceratium furcoides (Dinophyta, an invasive species, in a temporary high-altitude lake in the Iron Quadrangle (MG, Southeast Brazil

    Directory of Open Access Journals (Sweden)

    RA. Moreira

    Full Text Available Dinoflagellates of the genus Ceratium are generally marine organisms, but rare occurrences in freshwater have been observed in Brazil. In this paper we are recording for the first time the presence of Ceratium furcoides, an invasive species, in a shallow, natural intermittent pool formed at a high-altitude at the southern end of the Iron Quadrangle, an iron-mining district of Minas Gerais State (Southeast Brazil. Samples were collected in October and November of 2010 (rainy period. The population density of this organism observed in Lagoa Seca (“Dry Pool” was very low, at most 4 ind L–1. Mountain lakes are extremely vulnerable to atmospheric deposition of organisms, making them valuable witnesses both of the many forms of impact arising from human activities and of the extended global connections that facilitate the dispersion and introduction of new species over great distances. Studies on the population dynamics of C. furcoides in natural tropical systems are still rare and very recent to the brazilian scenario and hence the monitoring of its dynamics and the potential impact on aquatic communities of its becoming established are essential to an understanding of the process of bioinvasion by this species.

  13. 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...

  14. Huntington disease

    Science.gov (United States)

    ... President of the Florida Society of Neurology (FSN). Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team. Huntington's Disease Read more Latest Health News Read more Health ...

  15. Learning about Huntington's Disease

    Science.gov (United States)

    ... Mouse Models Of Huntington's Disease 1998 News Release Learning About Huntington's Disease What do we know about ... and treatment information. Hosted by the Dolan DNA Learning Center at Cold Spring Harbor Laboratory. Huntington's Outreach ...

  16. 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

  17. 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

  18. USGS map quadrangles

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — USGS map quandrangle boundaries with names and unique identifiers for the 1:24,000 (7.5 minute) quadrangles. Additional attributes provide unique identifiers and...

  19. Huntington's disease phenocopy syndromes.

    Science.gov (United States)

    Wild, Edward J; Tabrizi, Sarah J

    2007-12-01

    Patients presenting with features of Huntington's disease but lacking the causative genetic expansion can be challenging diagnostically. The differential diagnosis of such Huntington's disease phenocopy syndromes has not recently been reviewed. Cohort studies have established the relative frequencies of known Huntington's disease phenocopy syndromes, whereas newly described ones have been characterized genetically, clinically, radiologically and pathologically. About 1% of suspected Huntington's disease cases emerge as phenocopy syndromes. Such syndromes are clinically important in their own right but may also shed light on the pathogenesis of Huntington's disease. Huntington's disease produces a range of clinical phenotypes, and the range of syndromes that may be responsible for Huntington's disease phenocopies is correspondingly wide. Cohort studies have established that, while the majority of phenocopy patients remain undiagnosed, in those patients where a genetic diagnosis is reached the commonest causes are SCA17, Huntington's disease-like syndrome 2 (HDL2), familial prion disease and Friedreich's ataxia. We review the features of the reported genetic causes of Huntington's disease phenocopy syndromes, including HDL1-3, SCA17, familial prion disease, spinocerebellar ataxias, dentatorubral-pallidoluysian atrophy, chorea-acanthocytosis and iron-accumulation disorders. We present an evidence-based framework for the genetic testing of Huntington's disease phenocopy cases.

  20. [The Henry E. Huntington Library.

    Science.gov (United States)

    Abraham, Terry

    The biographical sketch of Henry E. Huntington includes a description of the establishment of the Huntington Library and the purpose and scope of its collection. Although this is a free and public library, its use is restricted to qualified scholars having legitimate research needs. Photographic techniques were developed at the Huntington Library…

  1. Lake

    Science.gov (United States)

    Wien, Carol Anne

    2008-01-01

    The lake is blue black and deep. It is a glaciated finger lake, clawed out of rock when ice retracted across Nova Scotia in a northerly direction during the last ice age. The lake is narrow, a little over a mile long, and deep, 90 to 190 feet in places according to local lore, off the charts in others. The author loves to swim there, with a sense…

  2. Geologic map of the Fraser 7.5-minute quadrangle, Grand County, Colorado

    Science.gov (United States)

    Shroba, Ralph R.; Bryant, Bruce; Kellogg, Karl S.; Theobald, Paul K.; Brandt, Theodore R.

    2010-01-01

    The geologic map of the Fraser quadrangle, Grand County, Colo., portrays the geology along the western boundary of the Front Range and the eastern part of the Fraser basin near the towns of Fraser and Winter Park. The oldest rocks in the quadrangle include gneiss, schist, and plutonic rocks of Paleoproterozoic age that are intruded by younger plutonic rocks of Mesoproterozoic age. These basement rocks are exposed along the southern, eastern, and northern margins of the quadrangle. Fluvial claystone, mudstone, and sandstone of the Upper Jurassic Morrison Formation, and fluvial sandstone and conglomeratic sandstone of the Lower Cretaceous Dakota Group, overlie Proterozoic rocks in a small area near the southwest corner of the quadrangle. Oligocene rhyolite tuff is preserved in deep paleovalleys cut into Proterozoic rocks near the southeast corner of the quadrangle. Generally, weakly consolidated siltstone and minor unconsolidated sediments of the upper Oligocene to upper Miocene Troublesome Formation are preserved in the post-Laramide Fraser basin. Massive bedding and abundant silt suggest that loess or loess-rich alluvium is a major component of the siltstone in the Troublesome Formation. A small unnamed fault about one kilometer northeast of the town of Winter Park has the youngest known displacement in the quadrangle, displacing beds of the Troublesome Formation. Surficial deposits of Pleistocene and Holocene age are widespread in the Fraser quadrangle, particularly in major valleys and on slopes underlain by the Troublesome Formation. Deposits include glacial outwash and alluvium of non-glacial origin; mass-movement deposits transported by creep, debris flow, landsliding, and rockfall; pediment deposits; tills deposited during the Pinedale and Bull Lake glaciations; and sparse diamictons that may be pre-Bull Lake till or debris-flow deposits. Some of the oldest surficial deposits may be as old as Pliocene.

  3. Mercury: Beethoven Quadrangle, H-7

    Science.gov (United States)

    2000-01-01

    Mercury: Computer Photomosaic of the Beethoven Quadrangle, H-7 The Beethoven Quadrangle, named for the 19th century classical German composer, lies in Mercury's Equatorial Mercator located between longitude 740 to 1440. The Mariner 10 spacecraft imaged the region during its initial flyby of the planet. The Image Processing Lab at NASA's Jet Propulsion Laboratory produced this photomosaic using computer software and techniques developed for use in processing planetary data. The images used to construct the Beethoven Quadrangle were taken as Mariner 10 flew passed Mercury. The Mariner 10 spacecraft was launched in 1974. The spacecraft took images of Venus in February 1974 on the way to three encounters with Mercury in March and September 1974 and March 1975. The spacecraft took more than 7,000 images of Mercury, Venus, the Earth and the Moon during its mission. The Mariner 10 Mission was managed by the Jet Propulsion Laboratory for NASA's Office of Space Science in Washington, D.C.

  4. Geologic map of the Morena Reservoir 7.5-minute quadrangle, San Diego County, California

    Science.gov (United States)

    Todd, Victoria R.

    2016-06-01

    IntroductionMapping in the Morena Reservoir 7.5-minute quadrangle began in 1980, when the Hauser Wilderness Area, which straddles the Morena Reservoir and Barrett Lake quadrangles, was mapped for the U.S. Forest Service. Mapping was completed in 1993–1994. The Morena Reservoir quadrangle contains part of a regional-scale Late Jurassic(?) to Early Cretaceous tectonic suture that coincides with the western limit of Jurassic metagranites in this part of the Peninsular Ranges batholith (PRB). This suture, and a nearly coincident map unit consisting of metamorphosed Cretaceous and Jurassic back-arc basinal volcanic and sedimentary rocks (unit KJvs), mark the boundary between western, predominantly metavolcanic rocks, and eastern, mainly metasedimentary, rocks. The suture is intruded and truncated by the western margin of middle to Late Cretaceous Granite Mountain and La Posta plutons of the eastern zone of the batholith.

  5. 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.

  6. 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.

  7. What is HD - Huntington's Disease?

    Science.gov (United States)

    ... the person less able to work at their customary level and less functional in their regular activities ... not is intensely personal and there is no "right" answer. The Huntington's Disease Society of America recommends ...

  8. Stages of Huntington's Disease (HD)

    Science.gov (United States)

    ... the person less able to work at their customary level and less functional in their regular activities ... not is intensely personal and there is no "right" answer. The Huntington's Disease Society of America recommends ...

  9. Natural history of Huntington disease.

    Science.gov (United States)

    Dorsey, E Ray; Beck, Christopher A; Darwin, Kristin; Nichols, Paige; Brocht, Alicia F D; Biglan, Kevin M; Shoulson, Ira

    2013-12-01

    Understanding the natural history of Huntington disease will inform patients and clinicians on the disease course and researchers on the design of clinical trials. To determine the longitudinal change in clinical features among individuals with Huntington disease compared with controls. Prospective, longitudinal cohort study at 44 research sites in Australia (n = 2), Canada (n =4), and the United States (n = 38). Three hundred thirty-four individuals with clinically manifest Huntington disease who had at least 3 years of annually accrued longitudinal data and 142 controls consisting of caregivers and spouses who had no genetic risk of Huntington disease. Change in movement, cognition, behavior, and function as measured by the Unified Huntington's Disease Rating Scale, the Mini-Mental State Examination, and vital signs. Total motor score worsened by 3.0 points (95% CI, 2.5-3.4) per year and chorea worsened by 0.3 point per year (95% CI, 0.1-0.5). Cognition declined by 0.7 point (95% CI, 0.6-0.8) per year on the Mini-Mental State Examination. Behavior, as measured by the product of frequency and severity score on the Unified Huntington's Disease Rating Scale, worsened by 0.6 point per year (95% CI, 0.0-1.2). Total functional capacity declined by 0.6 point per year (95% CI, 0.5-0.7). Compared with controls, baseline body mass index was lower in those with Huntington disease (25.8 vs 28.8; P Huntington disease all declined in a monotonic manner. These data quantify the natural history of the disease and may inform the design of trials aimed at reducing its burden. clinicaltrials.gov Identifier: NCT00313495.

  10. Huntington's disease in children.

    Science.gov (United States)

    Letort, Derek; Gonzalez-Alegre, Pedro

    2013-01-01

    Huntington's disease (HD) is a dominantly inherited, fatal neurodegenerative disease. This incurable illness is characterized by a triad of a movement disorder, cognitive decline and psychiatric manifestations. Although most patients with HD have disease onset in the adult years, a small but significant proportion present with pediatric HD. It has been long known that patients with early-onset HD commonly exhibit prominent parkinsonism, known as the Westphal variant of HD. However, even among patients with pediatric HD there are differential clinical features depending on the age of onset, with younger patients frequently presenting diagnostic challenges. In his chapter, the characteristics of patients with childhood- and adolescence-onset HD are discussed, focusing on the differential clinical features that can aid the clinical reach a correct diagnosis, the indications and rational use of genetic testing and the currently available options for symptomatic treatment.

  11. Preliminary Geologic Map of the Cook Inlet Region, Alaska-Including Parts of the Talkeetna, Talkeetna Mountains, Tyonek, Anchorage, Lake Clark, Kenai, Seward, Iliamna, Seldovia, Mount Katmai, and Afognak 1:250,000-scale Quadrangles

    Science.gov (United States)

    Geologic map compiled by Wilson, Frederic H.; Hults, Chad P.; Schmoll, Henry R.; Haeussler, Peter J.; Schmidt, Jeanine M.; Yehle, Lynn A.; Digital files prepared by Wilson, Frederic H.; Labay, Keith A.; Shew, Nora

    2009-01-01

    The growth in the use of Geographic Information Systems (GIS) has highlighted the need for digital geologic maps that have been attributed with information about age and lithology. Such maps can be conveniently used to generate derivative maps for manifold special purposes such as mineral-resource assessment, metallogenic studies, tectonic studies, and environmental research. This report is part of a series of integrated geologic map databases that cover the entire United States. Three national-scale geologic maps that portray most or all of the United States already exist; for the conterminous U.S., King and Beikman (1974a,b) compiled a map at a scale of 1:2,500,000, Beikman (1980) compiled a map for Alaska at 1:2,500,000 scale, and for the entire U.S., Reed and others (2005a,b) compiled a map at a scale of 1:5,000,000. A digital version of the King and Beikman map was published by Schruben and others (1994). Reed and Bush (2004) produced a digital version of the Reed and others (2005a) map for the conterminous U.S. The present series of maps is intended to provide the next step in increased detail. State geologic maps that range in scale from 1:100,000 to 1:1,000,000 are available for most of the country, and digital versions of these state maps are the basis of this product. The digital geologic maps presented here are in a standardized format as ARC/INFO export files and as ArcView shape files. The files named __geol contain geologic polygons and line (contact) attributes; files named __fold contain fold axes; files named __lin contain lineaments; and files named __dike contain dikes as lines. Data tables that relate the map units to detailed lithologic and age information accompany these GIS files. The map is delivered as a set 1:250,000-scale quadrangle files. To the best of our ability, these quadrangle files are edge-matched with respect to geology. When the maps are merged, the combined attribute tables can be used directly with the merged maps to make

  12. 2002 Upper Texas Coast Lidar Point Data, Gulf of Mexico Shoreline in the Northeast 3.75-Minute Quadrant of the Lake Como 7.5-Minute Quadrangle: Post Fay Survey

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This data set contains elevation data derived from a lidar survey approximately 300m wide of the Gulf of Mexico shoreline in the Northeast Lake Como...

  13. 2002 Upper Texas Coast Lidar Point Data, Gulf of Mexico Shoreline in the Northeast 3.75-Minute Quadrant of the Lake Como 7.5-Minute Quadrangle: Post Fay Survey

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This data set contains elevation data derived from a lidar survey approximately 300m wide of the Gulf of Mexico shoreline in the Northeast Lake Como...

  14. Treatment of Huntington's disease.

    Science.gov (United States)

    Frank, Samuel

    2014-01-01

    Huntington's disease (HD) is a dominantly inherited progressive neurological disease characterized by chorea, an involuntary brief movement that tends to flow between body regions. HD is typically diagnosed based on clinical findings in the setting of a family history and may be confirmed with genetic testing. Predictive testing is available to family members at risk, but only experienced clinicians should perform the counseling and testing. Multiple areas of the brain degenerate, mainly involving the neurotransmitters dopamine, glutamate, and γ-aminobutyric acid. Although pharmacotherapies theoretically target these neurotransmitters, few well-conducted trials for symptomatic interventions have yielded positive results and current treatments have focused on the motor aspects of HD. Tetrabenazine is a dopamine-depleting agent that may be one of the more effective agents for reducing chorea, although it has a risk of potentially serious adverse effects. Some newer neuroleptic agents, such as olanzapine and aripiprazole, may have adequate efficacy with a more favorable adverse effect profile than older neuroleptic agents for treating chorea and psychosis. There are no current treatments to change the course of HD, but education and symptomatic therapies can be effective tools for clinicians to use with patients and families affected by HD.

  15. Dopamine and Huntington's disease.

    Science.gov (United States)

    Schwab, Laetitia C; Garas, Shady N; Garas, Shaady N; Drouin-Ouellet, Janelle; Mason, Sarah L; Stott, Simon R; Barker, Roger A

    2015-04-01

    Huntington's disease (HD) is an incurable, inherited, progressive neurodegenerative disorder that is defined by a combination of motor, cognitive and psychiatric features. Pre-clinical and clinical studies have demonstrated an important role for the dopamine (DA) system in HD with dopaminergic dysfunction at the level of both DA release and DA receptors. It is, therefore, not surprising that the drug treatments most commonly used in HD are anti-dopaminergic agents. Their use is based primarily on the belief that the characteristic motor impairments are a result of overactivation of the central dopaminergic pathways. While this is a useful starting place, it is clear that the behavior of the central dopaminergic pathways is not fully understood in this condition and may change as a function of disease stage. In addition, how abnormalities in dopaminergic systems may underlie some of the non-motor features of HD has also been poorly investigated and this is especially important given the greater burden these place on the patients' and families' quality of life. In this review, we discuss what is known about central dopaminergic pathways in HD and how this informs us about the mechanisms of action of the dopaminergic therapies used to treat it. By doing so, we will highlight some of the paradoxes that exist and how solving them may reveal new insights for improved treatment of this currently incurable condition, including the possibility that such drugs may even have effects on disease progression and pathogenesis.

  16. Huntington's Disease and Mitochondria.

    Science.gov (United States)

    Jodeiri Farshbaf, Mohammad; Ghaedi, Kamran

    2017-06-21

    Huntington's disease (HD) as an inherited neurodegenerative disorder leads to neuronal loss in striatum. Progressive motor dysfunction, cognitive decline, and psychiatric disturbance are the main clinical symptoms of the HD. This disease is caused by expansion of the CAG repeats in exon 1 of the huntingtin which encodes Huntingtin protein (Htt). Various cellular and molecular events play role in the pathology of HD. Mitochondria as important organelles play crucial roles in the most of neurodegenerative disorders like HD. Critical roles of the mitochondria in neurons are ATP generation, Ca(2+) buffering, ROS generation, and antioxidant activity. Neurons as high-demand energy cells closely related to function, maintenance, and dynamic of mitochondria. In the most neurological disorders, mitochondrial activities and dynamic are disrupted which associate with high ROS level, low ATP generation, and apoptosis. Accumulation of mutant huntingtin (mHtt) during this disease may evoke mitochondrial dysfunction. Here, we review recent findings to support this hypothesis that mHtt could cause mitochondrial defects. In addition, by focusing normal huntingtin functions in neurons, we purpose mitochondria and Huntingtin association in normal condition. Moreover, mHtt affects various cellular signaling which ends up to mitochondrial biogenesis. So, it could be a potential candidate to decline ATP level in HD. We conclude how mitochondrial biogenesis plays a central role in the neuronal survival and activity and how mHtt affects mitochondrial trafficking, maintenance, integrity, function, dynamics, and hemostasis and makes neurons vulnerable to degeneration in HD.

  17. Neuroimaging in Huntington's disease.

    Science.gov (United States)

    Niccolini, Flavia; Politis, Marios

    2014-06-28

    Huntington's disease (HD) is a progressive and fatal neurodegenerative disorder caused by an expanded trinucleotide CAG sequence in huntingtin gene (HTT) on chromosome 4. HD manifests with chorea, cognitive and psychiatric symptoms. Although advances in genetics allow identification of individuals carrying the HD gene, much is still unknown about the mechanisms underlying the development of overt clinical symptoms and the transitional period between premanifestation and manifestation of the disease. HD has no cure and patients rely only in symptomatic treatment. There is an urgent need to identify biomarkers that are able to monitor disease progression and assess the development and efficacy of novel disease modifying drugs. Over the past years, neuroimaging techniques such as magnetic resonance imaging (MRI) and positron emission tomography (PET) have provided important advances in our understanding of HD. MRI provides information about structural and functional organization of the brain, while PET can detect molecular changes in the brain. MRI and PET are able to detect changes in the brains of HD gene carriers years ahead of the manifestation of the disease and have also proved to be powerful in assessing disease progression. However, no single technique has been validated as an optimal biomarker. An integrative multimodal imaging approach, which combines different MRI and PET techniques, could be recommended for monitoring potential neuroprotective and preventive therapies in HD. In this article we review the current neuroimaging literature in HD.

  18. Every flock generalised quadrangle has a hemisystem

    CERN Document Server

    Bamberg, John; Royle, Gordon

    2009-01-01

    We prove that every flock generalised quadrangle contains a hemisystem, and we provide a construction method which unifies our results with the examples of Cossidente and Penttila in the classical case.

  19. Geologic map of the Pinedale quadrangle, McKinley County, New Mexico

    Science.gov (United States)

    Robertson, Jacques F.

    2005-01-01

    shale, orange feldspathic sandstone, and green tuffaceous mudstone, deposited in ancient lakes, alluvial fans, and rivers during the Upper Jurassic Period. Thick, crossbedded, white beds of the Cow Springs Sandstone, derived from ancient windblown desert sands, underlie the Morrison. In the northern part of the quadrangle, the Dakota Sandstone is overlain by gray Mancos Shale and yellowish-gray Two Wells and Gallup Sandstones that were deposited in Late Cretaceous seas. Unconsolidated deposits of Quaternary age are found throughout the quadrangle in talus, slope wash, fans, valley alluviums, pediments, and as windblown sands in dunes and blanket deposits. The strata conform to the regional dip of about three degrees to north, except where they are down-folded some 200 meters along the Pinedale monocline, whose limbs follow a sinuous west-northwest trend across the northern half of the quadrangle. The monocline is beautifully exposed at Pinedale, where it shows as much as 20 degrees dip on the pine-studded bare rock slope of the Two Wells Sandstone. A north-plunging broad anticline and accompanying syncline is developed in the east-central part of the quadrangle but dies out against the monocline. A minor fault, with barely 3 meters of vertical displacement, extends several kilometers westward across the Todilto Limestone bench. A large landslide mass, 1.5 kilometers long by 0.7 kilometers wide occurs in the Mancos Shale west of Pinedale. Exploration drilling for uranium in the Morrison Formation has been extensive in the quadrangle, particularly north of the monocline, which adjoins the Old Church Rock mine area, west northwest of the quadrangle.

  20. Huntington Disease in Asia

    Institute of Scientific and Technical Information of China (English)

    Miao Xu; Zhi-Ying Wu

    2015-01-01

    Objective:The objective was to review the major differences of Huntington disease (HD) in Asian population from those in the Caucasian population.Data Sources:Data cited in this review were obtained from PubMed database and China National Knowledge Infrastructure (CNKI) from 1994 to 2014.All the papers were written in English or Chinese languages,with the terms of Asia/Asian,HD,genotype,epidemiology,phenotype,and treatment used for the literature search.Study Selection:From the PubMed database,we included the articles and reviews which contained the HD patients' data from Asian countries.From the CNKI,we excluded the papers which were not original research.Due to the language's restrictions,those data published in other languages were not included.Results:In total,50 papers were cited in this review,authors of which were from the mainland of China,Japan,India,Thailand,Taiwan (China),Korea,and western countries.Conclusions:The lower epidemiology in Asians can be partly explained by the less cytosine-adenine-guanine repeats,different haplotypes,and CCG polymorphisms.For the physicians,atypical clinical profiles such as the initial symptom of ataxia,movement abnormalities of Parkinsonism,dystonia,or tics need to be paid more attention to and suggest gene testing if necessary.Moreover,some pathogenesis studies may help progress some new advanced treatments.The clinicians in Asian especially in China should promote the usage of genetic testing and put more effects in rehabilitation,palliative care,and offer comfort of patients and their families.The unified HD rating scale also needs to be popularized in Asia to assist in evaluating the progression of HD.

  1. Mitochondrial dysfunction and Huntington disease

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    Huntington disease (HD) is a chronic autosomal-dominant neurodegenerative disease. The gene coding Huntingtin has been identified, but the pathogenic mechanisms of the disease are still not fully understood. This paper reviews the involvement of mitochondrial dysfunction in pathogenesis of HD.

  2. Is Huntington's disease a tauopathy?

    Science.gov (United States)

    Gratuze, Maud; Cisbani, Giulia; Cicchetti, Francesca; Planel, Emmanuel

    2016-04-01

    Tauopathies are a subclass of neurodegenerative diseases typified by the deposition of abnormal microtubule-associated tau protein within the cerebral tissue. Alzheimer's disease, progressive supranuclear palsy, chronic traumatic encephalopathy and some fronto-temporal dementias are examples of the extended family of tauopathies. In the last decades, intermittent reports of cerebral tau pathology in individuals afflicted with Huntington's disease-an autosomal dominant neurodegenerative disorder that manifests by severe motor, cognitive and psychiatric problems in adulthood-have also begun to surface. These observations remained anecdotal until recently when a series of publications brought forward compelling evidence that this monogenic disorder may, too, be a tauopathy. Collectively, these studies reported that: (i) patients with Huntington's disease present aggregated tau inclusions within various structures of the brain; (ii) tau haplotype influences the cognitive function of Huntington's disease patients; and (iii) that the genetic product of the disease, the mutant huntingtin protein, could alter tau splicing, phosphorylation, oligomerization and subcellular localization. Here, we review the past and current evidence in favour of the postulate that Huntington's disease is a new member of the family of tauopathies. © The Author (2016). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  3. Neurodegenerative disorders: Parkinson's disease and Huntington's disease

    Science.gov (United States)

    Hague, S; Klaffke, S; Bandmann, O

    2005-01-01

    Parkinson's disease and Huntington's disease are both model diseases. Parkinson's disease is the most common of several akinetic-rigid syndromes and Huntington's disease is only one of an ever growing number of trinucleotide repeat disorders. Molecular genetic studies and subsequent molecular biological studies have provided fascinating new insights into the pathogenesis of both disorders and there is now real hope for disease modifying treatment in the not too distant future for patients with Parkinson's disease or Huntington's disease. PMID:16024878

  4. Neurodegenerative disorders: Parkinson's disease and Huntington's disease.

    Science.gov (United States)

    Hague, S M; Klaffke, S; Bandmann, O

    2005-08-01

    Parkinson's disease and Huntington's disease are both model diseases. Parkinson's disease is the most common of several akinetic-rigid syndromes and Huntington's disease is only one of an ever growing number of trinucleotide repeat disorders. Molecular genetic studies and subsequent molecular biological studies have provided fascinating new insights into the pathogenesis of both disorders and there is now real hope for disease modifying treatment in the not too distant future for patients with Parkinson's disease or Huntington's disease.

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

    Science.gov (United States)

    Phukan, Julie; Ali, Elfatih; Pender, Niall P; Molloy, Fiona; Hennessy, Michael; Walsh, Ronan J; Hardiman, Orla

    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.

  6. Geologic map of the Dillon quadrangle, Summit and Grand Counties, Colorado

    Science.gov (United States)

    Kellogg, Karl S.

    2002-01-01

    New 1:24,000-scale geologic mapping along the Interstate-70 urban corridor in western Colorado, in support of the USGS Central Region State/USGS Cooperative Geologic Mapping Project, is contributing to a more complete understanding of the stratigraphy, structure, tectonic evolution, and hazard potential of this rapidly developing region. The 1:24,000-scale Dillon quadrangle is near the headwaters of the Blue River and straddles features of the Blue River graben (Kellogg, 1999), part of the northernmost reaches of the Rio Grande rift, a major late Oligocene to recent zone of extension that extends from Colorado to Mexico. The Williams Range thrust fault, the western structural margin of the Colorado Front Range, cuts through the center of the quadrangle, although is mostly covered by surficial deposits. The oldest rocks in the quadrangle underlie the Williams Fork Mountains and the ridge immediately east of South Fork Middle Fork River, and include biotite-sillimanite schist and gneiss, amphibolite, and migmatite that are intruded by granite inferred to be part of the 1,667-1,750 Ma Routt Plutonic Suite (Tweto, 1987). The oldest exposed sedimentary unit is the Upper Jurassic Morrison Formation, but Pennsylvanian Maroon Formation, a sequence of red sandstone, conglomerate, and interbedded shale, underlies the southern part of the quadrangle. The thickest sequence of sedimentary rocks is Cretaceous in age and includes at least 500 m of the Upper Cretaceous Pierre Shale. Surficial deposits include (1) an old, deeply dissected landslide deposit, possibly as old as Pliocene, on the west flank of the Williams Fork Mountains, (2) deeply weathered, very coarse gravel deposits underlying a mesa in the southwest part of the quadrangle (the Mesa Cortina subdivision. The gravels are gold bearing and were mined by hydraulic methods in the 1800s), (3) moderately to deeply weathered, widespread, bouldery material that is a combination of till of the Bull Lake glaciation, debris

  7. Huntington Disease: Molecular Diagnostics Approach.

    Science.gov (United States)

    Bastepe, Murat; Xin, Winnie

    2015-10-06

    Huntington disease (HD) is caused by expansion of a CAG trinucleotide repeat in the first exon of the Huntingtin (HTT) gene. Molecular testing of Huntington disease for diagnostic confirmation and disease prediction requires detection of the CAG repeat expansion. There are three main types of HD genetic testing: (1) diagnostic testing to confirm or rule out disease, (2) presymptomatic testing to determine whether an at-risk individual inherited the expanded allele, and (3) prenatal testing to determine whether the fetus has inherited the expanded allele. This unit includes protocols that describe the complementary use of polymerase chain reactions (PCR) and Southern blot hybridization to accurately measure the CAG trinucleotide repeat size and interpret the test results. In addition, an indirect linkage analysis that does not reveal the unwanted parental HD status in a prenatal testing will also be discussed.

  8. Cortical myoclonus in Huntington's disease.

    Science.gov (United States)

    Thompson, P D; Bhatia, K P; Brown, P; Davis, M B; Pires, M; Quinn, N P; Luthert, P; Honovar, M; O'Brien, M D; Marsden, C D

    1994-11-01

    We describe three patients with Huntington's disease, from two families, in whom myoclonus was the predominant clinical feature. The diagnosis was confirmed at autopsy in two cases and by DNA analysis in all three. These patients all presented before the age of 30 years and were the offspring of affected fathers. Neurophysiological studies documented generalised and multifocal action myoclonus of cortical origin that was strikingly stimulus sensitive, without enlargement of the cortical somatosensory evoked potential. The myoclonus improved with piracetam therapy in one patient and a combination of sodium valproate and clonazepam in the other two. Cortical reflex myoclonus is a rare but disabling component of the complex movement disorder of Huntington's disease, which may lead to substantial diagnostic difficulties.

  9. Molecular Imaging of Huntington's Disease.

    Science.gov (United States)

    Ciarmiello, Andrea; Giovacchini, Giampiero; Giovannini, Elisabetta; Lazzeri, Patrizia; Borsò, Elisa; Mannironi, Antonio; Mansi, Luigi

    2017-08-01

    The onset and the clinical progression of Huntington Disease (HD) is influenced by several events prompted by a genetic mutation that affects several organs tissues including different regions of the brain. In the last decades years, Positron Emission Tomography (PET) and Magnetic Resonance Imaging (MRI) helped to deepen the knowledge of neurodegenerative mechanisms that guide to clinical symptoms. Brain imaging with PET represents a tool to investigate the physiopathology occurring in the brain and it has been used to predict the age of onset of the disease and to evaluate the therapeutic efficacy of new drugs. This article reviews the contribution of PET and MRI in the research field on Huntington's disease, focusing in particular on some most relevant achievements that have helped recognize the molecular changes, the clinical symptoms and evolution of the disease. J. Cell. Physiol. 232: 1988-1993, 2017. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  10. Antipsychotic drugs in Huntington's disease.

    Science.gov (United States)

    Unti, E; Mazzucchi, S; Palermo, G; Bonuccelli, U; Ceravolo, R

    2017-03-01

    The aim of this review is to overview the pharmacological features of neuroleptics experienced in the treatment of Huntington's disease (HD) symptoms. Despite a large number of case reports, randomized controlled trials (RCT) and drug comparison studies are lacking. Areas covered: After evaluating current guidelines and clinical unmet needs we searched PubMed for the term 'Huntington's disease' cross referenced with the terms 'Antipsychotic drugs' 'Neuroleptic drugs' and single drug specific names. Expert commentary: In clinical practice antipsychotics represent the first choice in the management of chorea in the presence of psychiatric symptoms, when poor compliance is suspected or when there is an increased risk of adverse events due to tetrabenazine. Antipsychotics are considered valid strategies, with the second generation preferred to reduce extrapyramidal adverse events, however they may cause more metabolic side effects. In the future 'dopamine stabilizers', such as pridopidine, could replace antipsychotics modulating dopamine transmission.

  11. Neuropsychiatric Burden in Huntington's Disease.

    Science.gov (United States)

    Paoli, Ricardo Augusto; Botturi, Andrea; Ciammola, Andrea; Silani, Vincenzo; Prunas, Cecilia; Lucchiari, Claudio; Zugno, Elisa; Caletti, Elisabetta

    2017-06-16

    Huntington's disease is a disorder that results in motor, cognitive, and psychiatric problems. The symptoms often take different forms and the presence of disturbances of the psychic sphere reduces patients' autonomy and quality of life, also impacting patients' social life. It is estimated that a prevalence between 33% and 76% of the main psychiatric syndromes may arise in different phases of the disease, often in atypical form, even 20 years before the onset of chorea and dementia. We present a narrative review of the literature describing the main psychopathological patterns that may be found in Huntington's disease, searching for a related article in the main database sources (Medline, ISI Web of Knowledge, Scopus, and Medscape). Psychiatric conditions were classified into two main categories: affective and nonaffective disorders/symptoms; and anxiety and neuropsychiatric features such as apathy and irritability. Though the literature is extensive, it is not always convergent, probably due to the high heterogeneity of methods used. We summarize main papers for pathology and sample size, in order to present a synoptic vision of the argument. Since the association between Huntington's disease and psychiatric symptoms was demonstrated, we argue that the prevalent and more invalidating psychiatric components should be recognized as early as possible during the disease course in order to best address psychopharmacological therapy, improve quality of life, and also reduce burden on caregivers.

  12. Huntington's disease: review and anesthetic case management.

    OpenAIRE

    Cangemi, C. F.; Miller, R. J.

    1998-01-01

    Huntington's disease is a dominantly inherited progressive autosomal disease that affects the basal ganglia. Symptoms appear later in life and manifest as progressive mental deterioration and involuntary choreiform movements. Patients with Huntington's disease develop a progressive but variable dementia. Dysphagia, the most significant related motor symptom, hinders nutrition intake and places the patient at risk for aspiration. The combination of involuntary choreoathetoid movements, depress...

  13. Drug-induced hyperthermia in Huntington's disease

    NARCIS (Netherlands)

    Gaasbeek, D; Naarding, Paul; Stor, T; Kremer, H P H

    Until now, only three patients with Huntington's disease (HD) and a neuroleptic malignant syndrome (NMS) have been reported in the literature. We describe four cases with advanced stage Huntington's disease who within a period of one year developed drug-induced hyperthermia, either the neuroleptic

  14. Drug-induced hyperthermia in Huntington's disease.

    NARCIS (Netherlands)

    Gaasbeek, D.; Naarding, P.; Stor, T.; Kremer, H.P.H.

    2004-01-01

    Until now, only three patients with Huntington's disease (HD) and a neuroleptic malignant syndrome (NMS) have been reported in the literature. We describe four cases with advanced stage Huntington's disease who within a period of one year developed drug-induced hyperthermia, either the neuroleptic

  15. Drug-induced hyperthermia in Huntington's disease.

    NARCIS (Netherlands)

    Gaasbeek, D.; Naarding, P.; Stor, T.; Kremer, H.P.H.

    2004-01-01

    Until now, only three patients with Huntington's disease (HD) and a neuroleptic malignant syndrome (NMS) have been reported in the literature. We describe four cases with advanced stage Huntington's disease who within a period of one year developed drug-induced hyperthermia, either the neuroleptic m

  16. Apathy is not depression in Huntington's disease

    NARCIS (Netherlands)

    Naarding, Paul; Janzing, Joost G E; Eling, Paul; van der Werf, Sieberen; Kremer, Berry

    2009-01-01

    Apathy and depression are common neuropsychiatric features of Huntington's disease. The authors studied a group of 34 Huntington's disease patients. In addition to the conventional classification according to DSM-IV criteria of depression, emphasis was put on a dimensional approach using scores on

  17. Huntington's disease: clinical characteristics, pathogenesis and therapies.

    Science.gov (United States)

    Nakamura, Ken; Aminoff, Michael J

    2007-02-01

    Huntington's disease is a devastating disorder with no known cure. The disease results from an expanded sequence of CAG repeats in the huntingtin gene and leads to a movement disorder with associated cognitive and systemic deficits. Huntington's disease is diagnosed by genetic testing and disease progression can be followed with a variety of imaging modalities. The accumulation of aggregated huntingtin with associated striatal degeneration is evident at autopsy. The pathophysiology of Huntington's disease remains unknown, although protein aggregation, excitotoxicity, deficits in energy metabolism, transcriptional dysregulation and apoptosis may all be involved. Current pharmacologic therapy for Huntington's disease is limited and exclusively symptomatic. However, the disease is being heavily researched, and a wide range of disease-modifying therapies is currently under development. The efficacy of these therapies is being evaluated in transgenic models of Huntington's disease and in preliminary clinical trials.

  18. Geology of the Gypsum Gap quadrangle, Colorado

    Science.gov (United States)

    Cater, Fred W.

    1953-01-01

    The Gypsum Gap quadrangle is one eighteen 7 1/2-minute quadrangles covering the principal carnotite-producing area of southwestern Colorado. The geology of these quadrangles was mapped by the U.S. Geological Survey for the Atomic Energy Commission as part of a comparative study of carnotite deposits. The rocks exposed in the eighteen quadrangles consist of crystalline rocks of pre-Cambrian age and sedimentary rocks that range in age from late Paleozoic to Quaternary. Over much of the area the sedimentary rocks are flat lying, but in places the rocks are disrupted by high-angle faults, and northwest-trending folds. Conspicuous among the folds are large anticlines having cores of intrusive salt and gypsum. Most of the carnotite deposits are confined to the Salt Wash sandstone member of the Jurassic Morrison formation. Within this sandstone, most of the deposits are spottily distributed through a arcuate zone known as the "Uravan Mineral Belt". Individual deposits range in size from irregular masses containing only a few tons of ore to large, tabular masses containing many thousands of tons. The core consists largely of sandstone selectively impregnated and in part replaced by uranium and vanadium minerals. Most of the deposits appear to be related to certain sedimentary structures in sandstones of favorable composition.

  19. Geology of the Davis Mesa quadrangle, Colorado

    Science.gov (United States)

    Cater, Fred W.; Bryner, Leonid

    1953-01-01

    The Davis Mesa quadrangle is one of eighteen 7 1/2-minute quadrangles covering the principal carnotite-producing area of southwestern Colorado. The geology of these quadrangles was mapped by the U.S. Geological Survey for the Atomic Energy Commission as part of a comprehensive study of carnotite deposits. The rocks exposed in the eighteen quadrangles consist of crystalline rocks of pre-Cambrian age and sedimentary rocks that range in age from late Paleozoic to Quaternary. Over much of the area the sedimentary rocks are flat lying, but in places the rocks are disrupted by hih-angle faults, and northwest-trending folds. Conspicuous among the folds are large anticlines having cores of intrusive salt and gypsum. Most of the carnotite deposits are confined to the Salt Wash sandstone member of Jurassic Morrison formation. Within this sandstone, most of the deposits are spottily distributed through an arcuate zone known as "Uruvan Mineral Belt". Individual deposits range in size from irregular masses containing only a few tons of ore to large, tabular masses containing many thousands of tons. The ore consists largely of sandstone selectively impregnated and in part replaced by uranium and vanadium minerals. Most of the deposits appear to be related to certain sedimentary structures in sandstones of favorable composition.

  20. Geology of the Anderson Mesa quadrangle, Colorado

    Science.gov (United States)

    Cater, Fred W.; Withington, C.F.

    1953-01-01

    The Anderson Mesa quadrangle is one of the eighteen 7 1/2-minute quadrangles covering the principal carnotite-producing area of the southwestern Colorado. The geology of these quadrangles was mapped by the U.S. Geological Survey for the Atomic Energy Commission as part of a comprehensive study of carnotite deposits. The rocks exposed in the eighteenth quadrangles consist of crystalline rocks of pre-Cambrian age and sedimentary rocks that range in age from late Paleozoic to Quarternary. Over much of the area the sedimentary rocks are flat lying, but in places the rocks are disrupted by high-angle faults, and northwest-tending folds. Conspicuous among the folds are large anticlines having cores of intrusive slat and gypsum. Most of the carnotite deposits are confined to the Salt Wash sandstone member of the Jurassic Morrison formation. Within this sandstone, most of the deposits are spottily distributed through an arcuate zone known as the "Uravan Mineral Belt". Individual deposits range in size from irregular masses containing many thousands of tons. The ore consists of largely of sandstone selectively impregnated and in part replaced by uranium and vanadium minerals. Most of the deposits appear to be related to certain sedimentary structures in sandstones of favorable composition.

  1. Geology of the Hamm Canyon quadrangle, Colorado

    Science.gov (United States)

    Cater, Fred W.

    1953-01-01

    The Hamm Canyon quadrangle is on eof eighteen 7 1/2-minute quadrangles covering the principal carnotite-producing area of southwestern Colorado. The geology of these quadrangles was mapped by the U.S. Geological Survey for the Atomic Energy Commission as part of a comprehensive study of carnotite deposits. The rocks exposed in the eighteen quadrangles consist of crystalline rocks of pre-Cambrian age and sedimentary rocks that range in age from late Paleozoic to Quaternary. Over much of the area the sedimentary rocks are flat lying, but in places the rocks are disrupted by high-angle faults, and northwest-trending folds. Conspicuous among the folds are large anticlines having cores of intrusive salt and gypsum. Most of the carnotite deposits are confined to the Salt Wash sandstone member of the Jurassic Morrison formation. Within this sandstone, most of the deposits are spottily distributed through an arcuate zone known as the "Uravan Mineral Belt". Individual deposits range in size from irregular masses containing only a few tons of ore to large, tabular masses containing many thousands of tons. The ore consists largely of sandstone selectively impregnated and in part replaced by uranium and vanadium minerals. Most of the deposits appear to be related to certain sedimentary structures in sandstones of favorable composition.

  2. Geology of the Naturita NW quadrangle, Colorado

    Science.gov (United States)

    Cater, Fred W.; Vogel, J.D.

    1953-01-01

    The Naturita NW quadrangle is one of eighteen 7 1/2-minute quadrangles covering the principal carnotite-producing area of southwestern Colorado. The geology of these quadrangles were mapped by the U.S. Geological Survey on behalf of the U.S. Atomic Energy Commission as part of a comprehensive study of carnotite deposits. The rocks exposed in the eighteen quadrangles consist of crystalline rocks of pre-Cambrian age and sedimentary rocks that range in age from late Paleozoic to Quaternary. Over much of the area the sedimentary rocks are flat lying, but in places the rocks are disrupted by high-angle faults, and northwest-trending folds. Conspicuous among the folds are large anticlines having cores of intrusive salt and gypsum. Most of the carnotite deposits are confined to the Salt Wash sandstone member of the Jurassic Morrison formation. Within this sandstone, most of the deposits are spottily distributed through an arcuate zone known as the "Uravan Mineral Belt". Individual deposits range in size from irregular masses containing only a few tons of ore to large, tabular masses containing many thousands of tons. The ore consists largely of sandstone selectively impregnated and in part replaced by uranium and vanadium minerals. Most of the deposits appear ro be related to certain sedimentary structures in sandstones of favorable composition.

  3. Geologic map of the Frisco quadrangle, Summit County, Colorado

    Science.gov (United States)

    Kellogg, Karl S.; Bartos, Paul J.; Williams, Cindy L.

    2002-01-01

    New 1:24,000-scale geologic mapping along the Interstate-70 urban corridor in western Colorado, in support of the USGS Central Region State/USGS Cooperative Geologic Mapping Project, is contributing to a more complete understanding of the stratigraphy, structure, tectonic evolution, and hazard potential of this rapidly developing region. The 1:24,000-scale Frisco quadrangle is near the headwaters of the Blue River and straddles features of the Blue River graben (Kellogg, K.S., 1999, Neogene basins of the northern Rio Grande rift?partitioning and asymmetry inherited from Laramide and older uplifts: Tectonophysics, v. 305, p. 141-152.), part of the northernmost reaches of the Rio Grande rift, a major late Oligocene to recent zone of extension that extends from Colorado to Mexico. The Williams Range thrust fault, the western structural margin of the Colorado Front Range, cuts the northeastern corner of the quadrangle. The oldest rocks in the quadrangle underlie the Tenmile Range and include biotite-sillimanite schist and gneiss, amphibolite, and migmatite that are intruded by granite inferred to be part of the 1,667-1,750 Ma Routt Plutonic Suite (Tweto, Ogden, 1987, Rock units of the Precambrian- basement in Colorado: U.S. Geological Survey Professional Paper 1321-A, 54 p.). The oldest sedimentary unit is the Pennsylvanian Maroon Formation, a sequence of red sandstone, conglomerate, and interbedded shale. The thickest sequence of sedimentary rocks is Cretaceous in age and includes at least 500 m of the Upper Cretaceous Pierre Shale. The sedimentary rocks are intruded by sills and dikes of dacite porphyry sills of Swan Mountain, dated at 44 Ma (Marvin, R.F., Mehnert, H.H., Naeser, C.W., and Zartman, R.E., 1989, U.S. Geological Survey radiometric ages, compilation ?C??Part five?Colorado, Montana, Utah, and Wyoming: Isochron/West, no. 53, p. 14-19. Simmons, E.C., and Hedge, C.E., 1978, Minor-element and Sr-isotope geochemistry of Tertiary stocks, Colorado mineral belt

  4. Huntington's Disease: An Immune Perspective

    Directory of Open Access Journals (Sweden)

    Annapurna Nayak

    2011-01-01

    Full Text Available Huntington's disease (HD is a progressive neurodegenerative disorder that is caused by abnormal expansion of CAG trinucleotide repeats. Neuroinflammation is a typical feature of most neurodegenerative diseases that leads to an array of pathological changes within the affected areas in the brain. The neurodegeneration in HD is also caused by aberrant immune response in the presence of aggregated mutant huntingtin protein. The effects of immune activation in HD nervous system are a relatively unexplored area of research. This paper summarises immunological features associated with development and progression of HD.

  5. Huntington disease: pathogenesis and treatment.

    Science.gov (United States)

    Dayalu, Praveen; Albin, Roger L

    2015-02-01

    Huntington disease (HD) is an autosomal dominant inherited neurodegenerative disease characterized by progressive motor, behavioral, and cognitive decline, culminating in death. It is caused by an expanded CAG repeat in the huntingtin gene. Even years before symptoms become overt, mutation carriers show subtle but progressive striatal and cerebral white matter atrophy by volumetric MRI. Although there is currently no direct treatment of HD, management options are available for several symptoms. A better understanding of HD pathogenesis, and more sophisticated clinical trials using newer biomarkers, may lead to meaningful treatments. This article reviews the current knowledge of HD pathogenesis and treatment.

  6. 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.

  7. [Molecular therapeutic strategies for Huntington's disease].

    Science.gov (United States)

    Milewski, Michał; Hoffman-Zacharska, Dorota; Ball, Jerzy

    2015-01-01

    Huntington's disease is a progressive neurodegenerative disorder of genetic origin that still lacks an effective treatment. Recently, a number of new attempts have been undertaken to develop a successful molecular therapy for this incurable condition. The novel approaches employ, among others, some new methods to selectively silence the mutated gene or to neutralize its toxic protein product. This paper reviews all major strategies that are currently considered for molecular therapy of Huntington's disease while discussing their potential effectiveness regarding the treatment of both the Huntington's disease and a large group of related neurodegenerative disorders associated with abnormal protein aggregation.

  8. Genetic modifiers of Huntington's disease.

    Science.gov (United States)

    Gusella, James F; MacDonald, Marcy E; Lee, Jong-Min

    2014-09-15

    Huntington's disease (HD) is a devastating neurodegenerative disorder that directly affects more than 1 in 10,000 persons in Western societies but, as a family disorder with a long, costly, debilitating course, it has an indirect impact on a far greater proportion of the population. Although some palliative treatments are used, no effective treatment exists for preventing clinical onset of the disorder or for delaying its inevitable progression toward premature death, approximately 15 years after diagnosis. Huntington's disease involves a movement disorder characterized by chorea, as well as a variety of psychiatric disturbances and intellectual decline, with a gradual loss of independence. A dire need exists for effective HD therapies to alleviate the suffering and costs to the individual, family, and health care system. In past decades, genetics, the study of DNA sequence variation and its consequences, provided the tools to map the HD gene to chromosome 4 and ultimately to identify its mutation as an expanded CAG trinucleotide repeat in the coding sequence of a large protein, dubbed huntingtin. Now, advances in genetic technology offer an unbiased route to the identification of genetic factors that are disease-modifying agents in human patients. Such genetic modifiers are expected to highlight processes capable of altering the course of HD and therefore to provide new, human-validated targets for traditional drug development, with the goal of developing rational treatments to delay or prevent onset of HD clinical signs.

  9. Huntington's disease: review and anesthetic case management.

    Science.gov (United States)

    Cangemi, C F; Miller, R J

    1998-01-01

    Huntington's disease is a dominantly inherited progressive autosomal disease that affects the basal ganglia. Symptoms appear later in life and manifest as progressive mental deterioration and involuntary choreiform movements. Patients with Huntington's disease develop a progressive but variable dementia. Dysphagia, the most significant related motor symptom, hinders nutrition intake and places the patient at risk for aspiration. The combination of involuntary choreoathetoid movements, depression, and apathy leads to cachexia. Factors of considerable concern to the anesthesiologist who treats patients with Huntington's disease may include how to treat frail elderly people incapable of cooperation, how to treat patients suffering from malnourishment, and how to treat patients with an increased risk for aspiration or exaggerated responses to sodium thiopental and succinylcholine. The successful anesthetic management of a 65-yr-old woman with Huntington's disease who presented for full-mouth extractions is described.

  10. Huntington's Disease: Speech, Language and Swallowing

    Science.gov (United States)

    ... Disease Society of America Huntington's Disease Youth Organization Movement Disorder Society National Institute of Neurological Disorders and Stroke Typical Speech and Language Development Learning More Than One Language Adult Speech and Language Child Speech and Language Swallowing ...

  11. Uranium hydrogeochemical and stream sediment reconnaissance of the Valdez NTMS Quadrangle, Alaska

    Energy Technology Data Exchange (ETDEWEB)

    1981-05-01

    This report presents results of a Hydrogeochemical and Stream Sediment Reconnaissance (HSSR) of the Valdez NTMS quadrangle, Alaska. In addition to this abbreviated data release, more complete data are available to the public in machine-readable form through the Grand Junction Office Information System (GJOIS) at Oak Ridge National Laboratory (ORNL). Presented in this data release are location data, field analyses, and laboratory analyses of several different sample media. For the sake of brevity, many field site observations have not been included in this volume. These data are, however, available on the magnetic tape. Appendices A to D describe the sample media and summarize the analytical results for each medium. The data were subsetted by one of the Los Alamos National Laboratory (LANL) sorting programs of Zinkl and others (1981a) into groups of stream sediment, lake sediment, stream water, lake water, and ground water samples.

  12. Uranium hydrogeochemical and stream sediment reconnaissance of the Mt. Hayes NTMS quadrangle, Alaska

    Energy Technology Data Exchange (ETDEWEB)

    1981-05-01

    Results of a hydrogeochemical and stream sediment reconnaissance of the Mt. Hayes quadrangle, Alaska, are presented. In addition to this abbreviated data release, more complete data are available to the public in machine-readable form. In this data release are location data, field analyses, and Laboratory analyses of several different sample media. For the sake of brevity, many field site observations have not been included in this volume. These data are, however, available on the magnetic tape. Appendices A to D describe the sample media and summarize the analytical results for each medium. The data were subsetted by one of the Los Alamos National Laboratory (LANL) sorting programs into groups of stream sediment, lake sediment, stream water, lake water, and ground water samples. For each group which contains a sufficient number of observations, statistical tables, tables of raw data, and 1:1000000 scale maps of pertinent elements have been included in this report.

  13. Impaired mitochondrial trafficking in Huntington's disease

    OpenAIRE

    Li, Xiao-Jiang; Orr, Adam L.; Li, Shihua

    2009-01-01

    Abstract Impaired mitochondrial function has been well documented in Huntington?s disease. Mutant huntingtin is found to affect mitochondria via various mechanisms including the dysregulation of gene transcription and impairment of mitochondrial function or trafficking. The lengthy and highly branched neuronal processes constitute complex neural networks in which there is a large demand for mitochondria-generated energy. Thus, the impaired mitochondria trafficking in neuronal cells...

  14. 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.

  15. Ethical issues and Huntington's disease.

    Science.gov (United States)

    Kromberg, Jennifer G R; Wessels, Tina-Marié

    2013-10-11

    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 twin sought predictive testing for this dominantly inherited disease, created several ethical dilemmas. Another case where predictive testing was carried out on two young children, at high risk, by a laboratory at the request of an adoption agency and a doctor, with a view to giving information to the foster parents, also posed many ethical conundrums for the counsellor. The ethical issues that arose in these cases are discussed in this paper. 

  16. Cholesterol metabolism in Huntington disease.

    Science.gov (United States)

    Karasinska, Joanna M; Hayden, Michael R

    2011-09-06

    The CNS is rich in cholesterol, which is essential for neuronal development and survival, synapse maturation, and optimal synaptic activity. Alterations in brain cholesterol homeostasis are linked to neurodegeneration. Studies have demonstrated that Huntington disease (HD), a progressive and fatal neurodegenerative disorder resulting from polyglutamine expansion in the huntingtin protein, is associated with changes in cellular cholesterol metabolism. Emerging evidence from human and animal studies indicates that attenuated brain sterol synthesis and accumulation of cholesterol in neuronal membranes represent two distinct mechanisms occurring in the presence of mutant huntingtin that influence neuronal survival. Increased knowledge of how changes in intraneuronal cholesterol metabolism influence the pathogenesis of HD will provide insights into the potential application of brain cholesterol regulation as a therapeutic strategy for this devastating disease.

  17. Juvenile Huntington disease in Argentina.

    Science.gov (United States)

    Gatto, Emilia Mabel; Parisi, Virginia; Etcheverry, José Luis; Sanguinetti, Ana; Cordi, Lorena; Binelli, Adrian; Persi, Gabriel; Squitieri, Ferdinando

    2016-01-01

    We analyzed demographic, clinical and genetic characteristics of juvenile Huntington disease (JHD) and it frequency in an Argentinean cohort. Age at onset was defined as the age at which behavioral, cognitive, psychiatric or motor abnormalities suggestive of JHD were first reported. Clinical and genetic data were similar to other international series, however, in this context we identified the highest JHD frequency reported so far (19.72%; 14/71). Age at onset of JHD is challenging and still under discussion. Our findings reinforce the hypothesis that clinical manifestations, other than the typical movement disorder, may anticipate age at onset of even many years. Analyses of JHD cohorts are required to explore it frequency in populations with different backgrounds to avoid an underestimation of this rare phenotype. Moreover, data from selected populations may open new pathways in therapeutic approaches and may explain new potential correlations between HD presentations and environmental or biological factors.

  18. Language impairment in Huntington's disease.

    Science.gov (United States)

    Azambuja, Mariana Jardim; Radanovic, Marcia; Haddad, Mônica Santoro; Adda, Carla Cristina; Barbosa, Egberto Reis; Mansur, Letícia Lessa

    2012-06-01

    Language alterations in Huntington's disease (HD) are reported, but their nature and correlation with other cognitive impairments are still under investigation. This study aimed to characterize the language disturbances in HD and to correlate them to motor and cognitive aspects of the disease. We studied 23 HD patients and 23 controls, matched for age and schooling, using the Boston Diagnostic Aphasia Examination, Boston Naming Test, the Token Test, Animal fluency, Action fluency, FAS-COWA, the Symbol Digit Modalities Test, the Stroop Test and the Hooper Visual Organization Test (HVOT). HD patients performed poorer in verbal fluency (poral comprehension (preading comprehension (p=0.034) and narrative writing (p<0.0001). There was a moderate correlation between the Expressive Component and Language Competency Indexes and the HVOT (r=0.519, p=0.011 and r=0.450, p=0.031, respectively). Language alterations in HD seem to reflect a derangement in both frontostriatal and frontotemporal regions.

  19. 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

  20. Geology of the V28 Quadrangle: Hecate Chasma, Venus

    Science.gov (United States)

    Stofan, E. R.; Guest, J. E.; Brian, A. W.

    2000-01-01

    The Hecate Chasma Quadrangle (V28), mapped at 1:5,000,000 scale, extends from 0-25 N and 240-270 Longitude. The quadrangle has thirteen impact craters, several large volcanoes, many coronae, three chasmata, and northern Hinemoa Planitia.

  1. Geologic map of the Hecate Chasma quadrangle (V-28), Venus

    Science.gov (United States)

    Stofan, Ellen R.; Guest, John E.; Brian, Antony W.

    2012-01-01

    The Hecate Chasma quadrangle (V–28) extends from lat 0° to 25° N. and from long 240° E. to 270° E. The quadrangle was mapped at 1:5,000,000 scale as part of the National Aeronautics and Space Administration (NASA) Planetary Geologic Mapping Program.

  2. 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...

  3. Silencing Huntington's chorea: Is RNA Interference a Potential Cure?

    OpenAIRE

    Metz, Gerlinde A.; Whishaw, Ian Q.; Afra Foroud; Nafisa M Jadavji

    2006-01-01

    In 1872, George Huntington described Huntington's disease as characterized by motor, cognitive and psychiatric impairments. Huntington's disease is a dominant and autosomal mutation on chromosome 4 featuring the insertion of numerous CAG repeats. CAG codes for the amino acid, glutmanine that forms part of the Huntingtin protein (htt). Excess glutamine attachments make htt prone to accumulate in neurons. Three genes can be considered when developing therapies for Huntington's disease. They inc...

  4. Preliminary isostatic residual gravity map of the Newfoundland Mountains 30' by 60' quadrangle and east part of the Wells 30' by 60' quadrangle, Box Elder County, Utah

    Science.gov (United States)

    Langenheim, Victoria; Athens, N.D.; Churchel, B.A.; Willis, H.; Knepprath, N.E.; Rosario, Jose J.; Roza, J.; Kraushaar, S.M.; Hardwick, C.L.

    2013-01-01

    A new isostatic residual gravity map of the Newfoundland Mountains and east of the Wells 30×60 quadrangles of Utah is based on compilation of preexisting data and new data collected by the Utah and U.S. Geological Surveys. Pronounced gravity lows occur over Grouse Creek Valley and locally beneath the Great Salt Lake Desert, indicating significant thickness of low-density Tertiary sedimentary rocks and deposits. Gravity highs coincide with exposures of dense pre-Cenozoic rocks in the Newfoundland, Silver Island, and Little Pigeon Mountains. Gravity values measured on pre-Tertiary basement to the north in the Bovine and Hogup Mountains are as much as 10mGal lower. Steep, linear gravity gradients may define basin-bounding faults concealed along the margins of the Newfoundland, Silver Island, and Little Pigeon Mountains, Lemay Island and the Pilot Range.

  5. Geologic Map of the Sheep Hole Mountains 30' x 60' Quadrangle, San Bernardino and Riverside Counties, California

    Science.gov (United States)

    Howard, Keith A.

    2002-01-01

    This data set describes and maps the geology of the Sheep Hole Mountains 30' x 60' quadrangle in southern California. The quadrangle covers an area of the Mojave Desert characterized by desert ranges separated by broad basins. Ranges include parts of the Old Woman, Ship, Iron, Coxcomb, Pinto, Bullion, and Calumet mountains as well as Lead Mountain and the Kilbeck Hills. Basins include part of Ward Valley, part of Cadiz Valley including Cadiz Lake playa, and broad valleys occupied by the Bristol Lake and Dale Lake playas. Bedrock geologic units in the ranges range in age from Proterozoic to Quaternary. The valleys expose Neogene and Quaternary deposits. Proterozoic granitoids in the quadrangle include the Early Proterozoic Fenner Gneiss, Kilbeck Gneiss, Dog Wash Gneiss, granite of Joshua Tree, the (highly peraluminous granite) gneiss of Dry Lakes valley, and a Middle Proterozoic granite. Proterozoic supracrustal rocks include the Pinto Gneiss of Miller (1938) and the quartzite of Pinto Mountain. Early Proterozoic orogeny left an imprint of metamorphic mineral assemblages and fabrics in the older rocks. A Cambrian to Triassic sequence deposited on the continental shelf lies above a profound nonconformity developed on the Proterozoic rocks. Small metamorphosed remnants of this sequence in the quadrangle include rocks correlated to the Tapeats, Bright Angel, Bonanza King, Redwall, Bird Spring, Hermit, Coconino, Kaibab, and Moenkopi formations. The Dale Lake Volcanics (Jurassic), and the McCoy Mountains Formation of Miller (1944)(Cretaceous and Jurassic?) are younger Mesozoic synorogenic supracrustal rocks in the quadrangle. Mesozoic intrusions form much of the bedrock in the quadrangle, and represent a succession of magmatic arcs. The oldest rock is the Early Triassic quartz monzonite of Twentynine Palms. Extensive Jurassic magmatism is represented by large expanses of granitoids that range in composition from gabbro to syenogranite. They include the Virginia May

  6. Geologic quadrangle maps of the United States: geology of the Casa Diablo Mountain quadrangle, California

    Science.gov (United States)

    Rinehart, C. Dean; Ross, Donald Clarence

    1957-01-01

    The Casa Diablo Mountain quadrangle was mapped in the summers of 1952 and 1953 by the U.S. Geological Survey in cooperation with the California State Division of Mines as part of a study of potential tungsten-bearing areas.

  7. Index Grids - QUADRANGLES_24K_USGS_IN: Boundaries of 7.5-Minute Quadrangles in Indiana, (United States Geological Survey, 1:24,000 Polygon Shapefile)

    Data.gov (United States)

    NSGIC GIS Inventory (aka Ramona) — QUADRANGLES_24K_USGS_IN is a polygon shapefile defining the boundaries of the USGS 7.5-minute (1:24,000-scale) quadrangles which cover the state of Indiana. Dates of...

  8. Index Grids - QUADRANGLES_24K_USGS_IN: Boundaries of 7.5-Minute Quadrangles in Indiana, (United States Geological Survey, 1:24,000 Polygon Shapefile)

    Data.gov (United States)

    NSGIC State | GIS Inventory — QUADRANGLES_24K_USGS_IN is a polygon shapefile defining the boundaries of the USGS 7.5-minute (1:24,000-scale) quadrangles which cover the state of Indiana. Dates of...

  9. Exercise effects in Huntington disease.

    Science.gov (United States)

    Frese, Sebastian; Petersen, Jens A; Ligon-Auer, Maria; Mueller, Sandro Manuel; Mihaylova, Violeta; Gehrig, Saskia M; Kana, Veronika; Rushing, Elisabeth J; Unterburger, Evelyn; Kägi, Georg; Burgunder, Jean-Marc; Toigo, Marco; Jung, Hans H

    2017-01-01

    Huntington disease (HD) is a relentlessly progressive neurodegenerative disorder with symptoms across a wide range of neurological domains, including cognitive and motor dysfunction. There is still no causative treatment for HD but environmental factors such as passive lifestyle may modulate disease onset and progression. In humans, multidisciplinary rehabilitation has a positive impact on cognitive functions. However, a specific role for exercise as a component of an environmental enrichment effect has been difficult to demonstrate. We aimed at investigating whether endurance training (ET) stabilizes the progression of motor and cognitive dysfunction and ameliorates cardiovascular function in HD patients. Twelve male HD patients (mean ± SD, 54.8 ± 7.1 years) and twelve male controls (49.1 ± 6.8 years) completed 26 weeks of endurance training. Before and after the training intervention, clinical assessments, exercise physiological tests, and a body composition measurement were conducted and a muscle biopsy was taken from M. vastus lateralis. To examine the natural course of the disease, HD patients were additionally assessed 6 months prior to ET. During the ET period, there was a motor deficit stabilization as indicated by the Unified Huntington's Disease Rating Scale motor section score in HD patients (baseline: 18.6 ± 9.2, pre-training: 26.0 ± 13.7, post-training: 26.8 ± 16.4). Peak oxygen uptake ([Formula: see text]) significantly increased in HD patients (∆[Formula: see text] = +0.33 ± 0.28 l) and controls (∆[Formula: see text] = +0.29 ± 0.41 l). No adverse effects of the training intervention were reported. Our results confirm that HD patients are amenable to a specific exercise-induced therapeutic strategy indicated by an increased cardiovascular function and a stabilization of motor function.

  10. Biochemical aspects of Huntington's chorea.

    Science.gov (United States)

    Caraceni, T; Calderini, G; Consolazione, A; Riva, E; Algeri, S; Girotti, F; Spreafico, R; Branciforti, A; Dall'olio, A; Morselli, P L

    1977-01-01

    Fifteen patients affected by Huntington's chorea were divided into two groups, 'slow' and 'fast', according to IQ scores on the Wechsler-Bellevue scale, and scores on some motor performance tests. A possible correlation was looked for between some biochemical data (cerebrospinal fluid (CSF), homovanillic acid (HVA), and 5-hydroxyindolacetic acid (5HIAA) levels, plasma dopamine-beta-hydroxylase (DBH), dopamine (DA) uptake by platelets), and clinical data (duration of illness, severity of symptoms, age of patients, IQ scores, 'slow' and 'fast' groups). The CSF, HVA, and 5HIAA levels were found to be significantly lowered in comparison with normal controls. DBH activity and DA uptake by platelets did not differ significantly from normal subjects. Treatment with haloperidol in all patients and with dipropylacetic acid in three patients did not appear to modify the CSF, HVA, and 5HIAA concentrations, the plasma DBH activity, or the DA uptake. There were no significant differences in the CSF, HVA, and 5HIAA contents between the two groups of patients, and there was no correlation between biochemical data and clinical features. PMID:143508

  11. Protein oxidation in Huntington disease.

    Science.gov (United States)

    Sorolla, M Alba; Rodríguez-Colman, María José; Vall-llaura, Núria; Tamarit, Jordi; Ros, Joaquim; Cabiscol, Elisa

    2012-01-01

    Huntington disease (HD) is an inherited neurodegenerative disorder caused by expansion of CAG repeats in the huntingtin gene, affecting initially the striatum and progressively the cortex. Oxidative stress, and consequent protein oxidation, has been described as important to disease progression. This review focuses on recent advances in the field, with a particular emphasis on the identified target proteins and the role that their oxidation has or might have in the pathophysiology of HD. Oxidation and the resulting inactivation and/or degradation of important proteins can explain the impairment of several metabolic pathways in HD. Oxidation of enzymes involved in ATP synthesis can account for the energy deficiency observed. Impairment of protein folding and degradation can be due to oxidation of several heat shock proteins and Valosin-containing protein. Oxidation of two enzymes involved in the vitamin B6 metabolism could result in decreased availability of pyridoxal phosphate, which is a necessary cofactor in transaminations, the kynurenine pathway and the synthesis of glutathione, GABA, dopamine and serotonin, all of which have a key role in HD pathology. In addition, protein oxidation often contributes to oxidative stress, aggravating the molecular damage inside the cell. Copyright © 2012 International Union of Biochemistry and Molecular Biology, Inc.

  12. Error processing in Huntington's disease.

    Directory of Open Access Journals (Sweden)

    Christian Beste

    Full Text Available BACKGROUND: Huntington's disease (HD is a genetic disorder expressed by a degeneration of the basal ganglia inter alia accompanied with dopaminergic alterations. These dopaminergic alterations are related to genetic factors i.e., CAG-repeat expansion. The error (related negativity (Ne/ERN, a cognitive event-related potential related to performance monitoring, is generated in the anterior cingulate cortex (ACC and supposed to depend on the dopaminergic system. The Ne is reduced in Parkinson's Disease (PD. Due to a dopaminergic deficit in HD, a reduction of the Ne is also likely. Furthermore it is assumed that movement dysfunction emerges as a consequence of dysfunctional error-feedback processing. Since dopaminergic alterations are related to the CAG-repeat, a Ne reduction may furthermore also be related to the genetic disease load. METHODOLOGY/PRINCIPLE FINDINGS: We assessed the error negativity (Ne in a speeded reaction task under consideration of the underlying genetic abnormalities. HD patients showed a specific reduction in the Ne, which suggests impaired error processing in these patients. Furthermore, the Ne was closely related to CAG-repeat expansion. CONCLUSIONS/SIGNIFICANCE: The reduction of the Ne is likely to be an effect of the dopaminergic pathology. The result resembles findings in Parkinson's Disease. As such the Ne might be a measure for the integrity of striatal dopaminergic output function. The relation to the CAG-repeat expansion indicates that the Ne could serve as a gene-associated "cognitive" biomarker in HD.

  13. Predictive testing for Huntington's disease.

    Science.gov (United States)

    Tibben, Aad

    2007-04-30

    Worldwide, predictive testing for Huntington's disease has become an accepted clinical application that has allowed many individuals from HD-families to proceed with their life without the uncertainty of being at risk. International guidelines have extensively contributed to establishing counselling programmes of high quality, and have served as a model for other genetic disorders. Psychological follow-up studies have increased the insight into the far-reaching impact of test results for all individuals involved. Although the guidelines have served as a useful frame of reference, clinical experience has shown the importance of a case-by-case approach to do justice to the specific needs of the individual test candidate. Issues such as ambiguous test results, lack of awareness in a test candidate of early signs of the disease, non-compliance to the test protocol, or the test candidate's need for information on the relationship between age at onset and CAG-repeat require careful consideration. Receiving a test result is only one of the transition points in the life of an individual at risk; such result needs to be valued from a life-cycle perspective.

  14. Huntington's Disease and Striatal Signaling.

    Science.gov (United States)

    Roze, Emmanuel; Cahill, Emma; Martin, Elodie; Bonnet, Cecilia; Vanhoutte, Peter; Betuing, Sandrine; Caboche, Jocelyne

    2011-01-01

    Huntington's Disease (HD) is the most frequent neurodegenerative disease caused by an expansion of polyglutamines (CAG). The main clinical manifestations of HD are chorea, cognitive impairment, and psychiatric disorders. The transmission of HD is autosomal dominant with a complete penetrance. HD has a single genetic cause, a well-defined neuropathology, and informative pre-manifest genetic testing of the disease is available. Striatal atrophy begins as early as 15 years before disease onset and continues throughout the period of manifest illness. Therefore, patients could theoretically benefit from therapy at early stages of the disease. One important characteristic of HD is the striatal vulnerability to neurodegeneration, despite similar expression of the protein in other brain areas. Aggregation of the mutated Huntingtin (HTT), impaired axonal transport, excitotoxicity, transcriptional dysregulation as well as mitochondrial dysfunction, and energy deficits, are all part of the cellular events that underlie neuronal dysfunction and striatal death. Among these non-exclusive mechanisms, an alteration of striatal signaling is thought to orchestrate the downstream events involved in the cascade of striatal dysfunction.

  15. Therapeutic advances in Huntington's Disease.

    Science.gov (United States)

    Shannon, Kathleen M; Fraint, Avram

    2015-09-15

    Huntington's disease is a rare hereditary degenerative disease with a wide variety of symptoms that encompass movement, cognition, and behavior. The genetic mutation that causes the disease has been known for more than 20 y, and animal models have illuminated a host of intracellular derangements that occur downstream of protein translation. A number of clinical trials targeting these metabolic consequences have failed to produce a single effective therapy, although clinical trials continue. New strategies targeting the protein at the level of transcription, translation, and posttranslational modification and aggregation engender new hope that a successful strategy will emerge, but there is much work ahead. Some of the clinical manifestations of the illness, particularly chorea, affective symptoms, and irritability, are amenable to palliative strategies, but physicians have a poor evidence base on which to select the best agents. Clinical trials since 2013 have dashed hopes that coenzyme Q10 or creatine might have disease-modifying properties but suggested other agents were safe or hinted at efficacy (cysteamine, selisistat, hydroxyquinoline) and could proceed into later-stage disease modification trials. The hunt for effective symptom relief suggested that pridopidine might be shown effective given the right outcome measure. This review summarizes recent progress in HD and highlights promising new strategies for slowing disease progression and relieving suffering in HD. © 2015 International Parkinson and Movement Disorder Society.

  16. Huntington's disease: a clinical review.

    Science.gov (United States)

    McColgan, Peter; Tabrizi, Sarah J

    2017-08-17

    Huntington's disease (HD) is a fully penetrant neurodegenerative disease caused by a dominantly inherited CAG trinucleotide repeat expansion in the huntingtin gene on chromosome 4. In Western populations HD has a prevalence of 10.6-13.7 individuals per 100,000. It is characterised by cognitive, motor and psychiatric disturbance. At the cellular level mutant huntingtin results in neuronal dysfunction and death through a number of mechanisms, including disruption of proteostasis, transcription and mitochondrial function and direct toxicity of the mutant protein. Early macroscopic changes are seen in the striatum with involvement of the cortex as the disease progresses. There are currently no disease modifying treatments therefore supportive and symptomatic management is the mainstay of treatment. In recent years there have been significant advances in understanding both the cellular pathology and the macroscopic structural brain changes that occur as the disease progresses. In the last decade there has been a large growth in potential therapeutic targets and clinical trials. Perhaps the most promising of these are the emerging therapies aimed at lowering levels of mutant huntingtin. Antisense oligonucleotide therapy is one such approach with clinical trials currently underway. This may bring us one step closer to treating and potentially preventing this devastating condition. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  17. Movement sequencing in Huntington disease.

    Science.gov (United States)

    Georgiou-Karistianis, Nellie; Long, Jeffrey D; Lourens, Spencer G; Stout, Julie C; Mills, James A; Paulsen, Jane S

    2014-08-01

    To examine longitudinal changes in movement sequencing in prodromal Huntington's disease (HD) participants (795 prodromal HD; 225 controls) from the PREDICT-HD study. Prodromal HD participants were tested over seven annual visits and were stratified into three groups (low, medium, high) based on their CAG-Age Product (CAP) score, which indicates likely increasing proximity to diagnosis. A cued movement sequence task assessed the impact of advance cueing on response initiation and execution via three levels of advance information. Compared to controls, all CAP groups showed longer initiation and movement times across all conditions at baseline, demonstrating a disease gradient for the majority of outcomes. Across all conditions, the high CAP group had the highest mean for baseline testing, but also demonstrated an increase in movement time across the study. For initiation time, the high CAP group showed the highest mean baseline time across all conditions, but also faster decreasing rates of change over time. With progress to diagnosis, participants may increasingly use compensatory strategies, as evidenced by faster initiation. However, this occurred in conjunction with slowed execution times, suggesting a decline in effectively accessing control processes required to translate movement into effective execution.

  18. Language impairment in Huntington's disease

    Directory of Open Access Journals (Sweden)

    Mariana Jardim Azambuja

    2012-06-01

    Full Text Available Language alterations in Huntington's disease (HD are reported, but their nature and correlation with other cognitive impairments are still under investigation. This study aimed to characterize the language disturbances in HD and to correlate them to motor and cognitive aspects of the disease. We studied 23 HD patients and 23 controls, matched for age and schooling, using the Boston Diagnostic Aphasia Examination, Boston Naming Test, the Token Test, Animal fluency, Action fluency, FAS-COWA, the Symbol Digit Modalities Test, the Stroop Test and the Hooper Visual Organization Test (HVOT. HD patients performed poorer in verbal fluency (p<0.0001, oral comprehension (p<0.0001, repetition (p<0.0001, oral agility (p<0.0001, reading comprehension (p=0.034 and narrative writing (p<0.0001. There was a moderate correlation between the Expressive Component and Language Competency Indexes and the HVOT (r=0.519, p=0.011 and r=0.450, p=0.031, respectively. Language alterations in HD seem to reflect a derangement in both frontostriatal and frontotemporal regions.

  19. 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.

  20. Unusual early-onset Huntingtons disease.

    Science.gov (United States)

    Vargas, Antonio P; Carod-Artal, Francisco J; Bomfim, Denise; Vázquez-Cabrera, Carolina; Dantas-Barbosa, Carmela

    2003-06-01

    Huntington's disease is an autosomal dominant progressive neurodegenerative disorder characterized by involuntary movements, cognitive decline, and behavioral disorders leading to functional disability. In contrast to patients with adult onset, in which chorea is the major motor abnormality, children often present with spasticity, rigidity, and significant intellectual decline associated with a more rapidly progressive course. An unusual early-onset Huntington's disease case of an 11-year-old boy with severe hypokinetic/rigid syndrome appearing at the age of 2.5 years is presented. Clinical diagnosis was confirmed by polymerase chain reaction study of the expanded IT-15 allele with a compatible size of 102 cytosine-adenosine-guanosine repeats L-Dopa mildly ameliorated rigidity, bradykinesia, and dystonia. We conclude that Huntington's disease should be included in the differential diagnoses of regressive syndromes of early childhood.

  1. Development of biomarkers for Huntington's disease.

    Science.gov (United States)

    Weir, David W; Sturrock, Aaron; Leavitt, Blair R

    2011-06-01

    Huntington's disease is an autosomal dominant, progressive neurodegenerative disorder, for which there is no disease-modifying treatment. By use of predictive genetic testing, it is possible to identify individuals who carry the gene defect before the onset of symptoms, providing a window of opportunity for intervention aimed at preventing or delaying disease onset. However, without robust and practical measures of disease progression (ie, biomarkers), the efficacy of therapeutic interventions in this premanifest Huntington's disease population cannot be readily assessed. Current progress in the development of biomarkers might enable evaluation of disease progression in individuals at the premanifest stage of the disease; these biomarkers could be useful in defining endpoints in clinical trials in this population. Clinical, cognitive, neuroimaging, and biochemical biomarkers are being investigated for their potential in clinical use and their value in the development of future treatments for patients with Huntington's disease.

  2. Monkey hybrid stem cells develop cellular features of Huntington's disease

    Directory of Open Access Journals (Sweden)

    Lorthongpanich Chanchao

    2010-02-01

    Full Text Available Abstract Background Pluripotent stem cells that are capable of differentiating into different cell types and develop robust hallmark cellular features are useful tools for clarifying the impact of developmental events on neurodegenerative diseases such as Huntington's disease. Additionally, a Huntington's cell model that develops robust pathological features of Huntington's disease would be valuable for drug discovery research. Results To test this hypothesis, a pluripotent Huntington's disease monkey hybrid cell line (TrES1 was established from a tetraploid Huntington's disease monkey blastocyst generated by the fusion of transgenic Huntington's monkey skin fibroblast and a wild-type non-transgenic monkey oocyte. The TrES1 developed key Huntington's disease cellular pathological features that paralleled neural development. It expressed mutant huntingtin and stem cell markers, was capable of differentiating to neural cells, and developed teratoma in severely compromised immune deficient (SCID mice. Interestingly, the expression of mutant htt, the accumulation of oligomeric mutant htt and the formation of intranuclear inclusions paralleled neural development in vitro , and even mutant htt was ubiquitously expressed. This suggests the development of Huntington's disease cellular features is influenced by neural developmental events. Conclusions Huntington's disease cellular features is influenced by neural developmental events. These results are the first to demonstrate that a pluripotent stem cell line is able to mimic Huntington's disease progression that parallels neural development, which could be a useful cell model for investigating the developmental impact on Huntington's disease pathogenesis.

  3. National Dam Safety Program. Hilliard Estates Lake Dam (MO 20473), Osage - Gasconade River Basin, Greene County, Missouri. Phase I Inspection Report.

    Science.gov (United States)

    1981-03-01

    Tributary of the Little Pomme de Terre Date of Inspection: November 19, 1980 Hlilliard Estates Lake Dam was inspected by an interdiscip)- linary team... Terre River. The dam and lake are within the Strafford, Missouri 7.5 minute quadrangle sheet (Section 15, T3ON, R20W - latitude 37°19.1’ longitude

  4. Maternal transmission in sporadic Huntington's disease.

    OpenAIRE

    Sánchez, A; Milà, M.; Castellví-Bel, S; Rosich, M; Jiménez, D; Badenas, C.; ESTIVILL, X.

    1997-01-01

    Huntington's disease is an autosomal dominant neurodegenerative disorder caused by the expansion of a (CAG)n repeat in the IT15 gene. Three per cent of cases are sporadic and in those in which family studies have been performed, the origin of the mutation was always paternal. The first sporadic case of Huntington's disease is presented in which a premutated maternal allele of 37 CAG repeats was transmitted expanded to the proband (43 CAG repeats). Molecular analysis of the IT15 gene is extrem...

  5. Pathogenic insights from Huntington's disease-like 2 and other Huntington's disease genocopies.

    Science.gov (United States)

    Margolis, Russell L; Rudnicki, Dobrila D

    2016-12-01

    Huntington's disease-like 2 (HDL2) is a rare, progressive, autosomal dominant neurodegenerative disorder that genetically, clinically, and pathologically closely resembles Huntington's disease. We review HDL2 pathogenic mechanisms and examine the implications of these mechanisms for Huntington's disease and related diseases. HDL2 is caused by a CTG/CAG repeat expansion in junctophilin-3. Available data from cell and animal models and human brain suggest that HDL2 is a complex disease in which transcripts and proteins expressed bidirectionally from the junctophilin-3 locus contribute to pathogenesis through both gain-and loss-of-function mechanisms. Recent advances indicate that the pathogenesis of Huntington's disease is equally complex, despite the emphasis on toxic gain-of-function properties of the mutant huntingtin protein. Studies examining in parallel the genetic, clinical, neuropathological, and mechanistic similarities between Huntington's disease and HDL2 have begun to identify points of convergence between the pathogenic pathways of the two diseases. Comparisons to other diseases that are phenotypically or genetically related to Huntington's disease and HDL2 will likely reveal additional common pathways. The ultimate goal is to identify shared therapeutic targets and eventually develop therapies that may, at least in part, be effective across multiple similar rare diseases, an essential approach given the scarcity of resources for basic and translational research.

  6. Alaska map quadrangles at 1:250,000 scale

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — Outlines of 1:250,000 scale map quadrangles in Alaska for use as a geographic reference within Google Earth or other software capable of interpreting KML, with...

  7. Alaska map quadrangles at 1:250,000 scale

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — Outlines of 1:250,000 scale map quadrangles in Alaska for use as a geographic reference within Google Earth or other software capable of interpreting KML, with links...

  8. Digital Geologic Faults of Sherman Quadrangle, North-Central Texas

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — This digital data set contains the geologic faults for the 1:250,000-scale Sherman quadrangle, Texas and Oklahoma. The original data are from the Bureau of Economic...

  9. Bedrock Geologic Map of the Jay Peak, VT Quadrangle

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital data from VG99-1 Compilation bedrock geologic map of the Jay Peak quadrangle, Compiled by B. Doolan, 1999: VGS Open-File Report VG99-1, 1 plate, scale...

  10. Digital bedrock geologic map of the Cavendish quadrangle, Vermont

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital Data from VG95-203A Ratcliffe, NM, 1995,�Digital bedrock geologic map of the Cavendish quadrangle, Vermont: USGS Open-File Report 95-203, 2 plates, scale...

  11. Digital bedrock geologic map of the Saxtons River quadrangle, Vermont

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital Data from VG96-52A Ratcliffe, NM�and Armstrong, TR, 1996, Digital bedrock geologic map of the Saxtons River quadrangle, Vermont, USGS Open-File Report...

  12. Bedrock Geologic Map of the Bristol, VT Quadrangle

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital data from VG13-1 Kim, J, Weber, E, and Klepeis, K, 2013, Bedrock Geologic Map of the Bristol, VT Quadrangle: Vermont Geological Survey Open File Report...

  13. Geologic Mapping of Isabella Quadrangle (V50), Venus

    Science.gov (United States)

    Bleamaster, L. F., III

    2006-03-01

    Geologic Mapping of the Isabella Quadrangle (V50) provides tests of wrinkle ridge and shield formation mechanisms and temporal relations, impact crater-volcanic construct interactions, and structural reactivation.

  14. Digital bedrock geologic map of the Andover quadrangle, Vermont

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital Data from VG96-31A Ratcliffe, N.M., 1996, Digital bedrock geologic map of the Andover quadrangle, Vermont: USGS Open-File Report 96-31-A, 2 plates, scale...

  15. Bedrock Geologic Map of the Hinesburg Quadrangle, Vermont

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital Data from Thompson, P., Thompson, T.B., and Doolan, B., 2004, Bedrock Geology of the Hinesburg quadrangle, Vermont. The bedrock geologic map data at a scale...

  16. Bedrock Geologic Map of the Essex Junction Quadrangle, Vermont

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital data from VG12-3, Gale, M., Kim. J., and Ruksznis, A., 2012, Bedrock Geologic Map of the essex Junction Quadrangle: Vermont Geological Survey Open File...

  17. Digital bedrock geologic map of the Rochester quadrangle, Vermont

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital Data from VG96-33A Walsh, GJ and Falta, CK, 1996, Digital bedrock geologic map of the Rochester quadrangle, Vermont: USGS Open-File Report 96-33-A, 2 plates,...

  18. Digital bedrock geologic map of the Weston quadrangle, Vermont

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital Data from VG96-526A Ratcliffe, NM and Burton, WC, 1996, Digital bedrock geologic map of the Weston quadrangle, Vermont: USGS Open-File Report 96-526, 2...

  19. Surficial Geologic Map of the Bristol Quadrangle, Vermont

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital data from VG13-2 Springston, G, and Kim, J, 2013, Surficial Geologic Map of the Bristol Quadrangle, Vermont: Vermont Geological Survey Open File Report...

  20. Digital Geologic Map of Sherman Quadrangle, North-Central Texas

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — This digital data set contains geologic formations for the 1:250,000-scale Sherman quadrangle, Texas and Oklahoma. The original data are from the Bureau of Economic...

  1. Impaired motor speech performance in Huntington's disease.

    Science.gov (United States)

    Skodda, Sabine; Schlegel, Uwe; Hoffmann, Rainer; Saft, Carsten

    2014-04-01

    Dysarthria is a common symptom of Huntington's disease and has been reported, besides other features, to be characterized by alterations of speech rate and regularity. However, data on the specific pattern of motor speech impairment and their relationship to other motor and neuropsychological symptoms are sparse. Therefore, the aim of the present study was to describe and objectively analyse different speech parameters with special emphasis on the aspect of speech timing of connected speech and non-speech verbal utterances. 21 patients with manifest Huntington's disease and 21 age- and gender-matched healthy controls had to perform a reading task and several syllable repetition tasks. Computerized acoustic analysis of different variables for the measurement of speech rate and regularity generated a typical pattern of impaired motor speech performance with a reduction of speech rate, an increase of pauses and a marked disability to steadily repeat single syllables. Abnormalities of speech parameters were more pronounced in the subgroup of patients with Huntington's disease receiving antidopaminergic medication, but were also present in the drug-naïve patients. Speech rate related to connected speech and parameters of syllable repetition showed correlations to overall motor impairment, capacity of tapping in a quantitative motor assessment and some score of cognitive function. After these preliminary data, further investigations on patients in different stages of disease are warranted to survey if the analysis of speech and non-speech verbal utterances might be a helpful additional tool for the monitoring of functional disability in Huntington's disease.

  2. 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

  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. Wearable Sensors in Huntington Disease: A Pilot Study.

    Science.gov (United States)

    Andrzejewski, Kelly L; Dowling, Ariel V; Stamler, David; Felong, Timothy J; Harris, Denzil A; Wong, Cynthia; Cai, Hang; Reilmann, Ralf; Little, Max A; Gwin, Joseph T; Biglan, Kevin M; Dorsey, E Ray

    2016-06-18

    The Unified Huntington's Disease Rating Scale (UHDRS) is the principal means of assessing motor impairment in Huntington disease but is subjective and generally limited to in-clinic assessments. To evaluate the feasibility and ability of wearable sensors to measure motor impairment in individuals with Huntington disease in the clinic and at home. Participants with Huntington disease and controls were asked to wear five accelerometer-based sensors attached to the chest and each limb for standardized, in-clinic assessments and for one day at home. A second chest sensor was worn for six additional days at home. Gait measures were compared between controls, participants with Huntington disease, and participants with Huntington disease grouped by UHDRS total motor score using Cohen's d values. Fifteen individuals with Huntington disease and five controls completed the study. Sensor data were successfully captured from 18 of the 20 participants at home. In the clinic, the standard deviation of step time (time between consecutive steps) was increased in Huntington disease (p Huntington disease, and participants with Huntington disease grouped by motor impairment.

  5. Silencing Huntington's chorea: Is RNA Interference a Potential Cure?

    Directory of Open Access Journals (Sweden)

    Gerlinde A. Metz

    2006-01-01

    Full Text Available In 1872, George Huntington described Huntington's disease as characterized by motor, cognitive and psychiatric impairments. Huntington's disease is a dominant and autosomal mutation on chromosome 4 featuring the insertion of numerous CAG repeats. CAG codes for the amino acid, glutmanine that forms part of the Huntingtin protein (htt. Excess glutamine attachments make htt prone to accumulate in neurons. Three genes can be considered when developing therapies for Huntington's disease. They include targeting the symptoms of the disease, the progression of the disease and the cause of the disease. By using RNA interference (RNAi, the cause of the disease can be targeted. RNAi is a method that could potentially silence the formation of abnormal htt. This paper will discuss how RNAi could potentially cure Huntington's disease, by describing the genetic and proteinomic basis of Huntington's disease, the function of RNAi in Huntington's disease and the problems of benefits of RNAi. Preliminary work using RNAi in transgenic mice has shown a decrease in the behavioural expression of the mutant Huntington gene. There are several limitations associated with using RNAi as a gene therapy. For example, the effects of RNAi are short lived. A transposition system such as Sleeping Beauty can be used to increase the integration of the gene, however, for patients who currently have Huntington's disease, RNAi may potentially be used in combination with drugs or other treatments to target both symptoms and the underlying cause of Huntington's disease. This combination could eventually alleviate many painful symptoms associated with Huntington's disease and could even stop the progressive neurodegeneration of Huntington's disease. This review concludes that a substantial amount of new research is still necessary before RNAi is directly applicable to human patients with Huntington's disease.

  6. Geologic Map of the Piedmont Hollow Quadrangle, Oregon County, Missouri

    Science.gov (United States)

    Weary, David J.

    2008-01-01

    The Piedmont Hollow 7.5-min quadrangle is located in south-central Missouri within the Salem Plateau region of the Ozark Plateaus physiographic province (Fenneman, 1938; Bretz, 1965) (fig. 1). Almost all of the land in the quadrangle north of the Eleven Point River is part of the Mark Twain National Forest. Most of the land immediately adjoining the river is part of the Eleven Point National Scenic River, also administered by the U.S. Forest Service. South of the Eleven Point River, most of the land is privately owned and used primarily for grazing cattle and horses. The quadrangle has topographic relief of about 480 feet (ft), with elevations ranging from 550 ft on the Eleven Point River at the eastern edge of the quadrangle to 1,030 ft on a hilltop about a mile to the west-northwest. The most prominent physiographic feature in the quadrangle is the valley of the Eleven Point River, which traverses the quadrangle from west to northeast.

  7. Geologic map of the Lada Terra quadrangle (V-56), Venus

    Science.gov (United States)

    Kumar, P. Senthil; Head, James W.

    2013-01-01

    This publication provides a geological map of Lada Terra quadrangle (V–56), a portion of the southern hemisphere of Venus that extends from lat 50° S. to 70° S. and from long 0° E. to 60° E. V–56 is bordered by Kaiwan Fluctus (V–44) and Agnesi (V–45) quadrangles in the north and by Mylitta Fluctus (V–61), Fredegonde (V–57), and Hurston (V–62) quadrangles in the west, east, and south, respectively. The geological map of V–56 quadrangle reveals evidence for tectonic, volcanic, and impact processes in Lada Terra in the form of tesserae, regional extensional belts, coronae, and volcanic plains. In addition, the map also shows relative age relations such as overlapping or cross-cutting relations between the mapped geologic units. The geology observed within this quadrangle addresses (1) how coronae evolved in association with regional extensional belts and (2) how tesserae, regional plains, and impact craters, which are also significant geological units observed in Lada Terra quadrangle, were formed.

  8. USGS 1:24000 (7 1/2 Minute) Quadrangle Index

    Data.gov (United States)

    Minnesota Department of Natural Resources — Mathematically generated grid representing USGS 7 1/2 Minute Quadrangle Map outlines. Quadrangle names and standard identifiers are included with the data set.

  9. 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

  10. Topographic Map of Quadrangle 3262, Farah (421) and Hokumat-E-Pur-Chaman (422) Quadrangles, Afghanistan

    Science.gov (United States)

    Bohannon, Robert G.

    2006-01-01

    This map was produced from several larger digital datasets. Topography was derived from Shuttle Radar Topography Mission (SRTM) 85-meter digital data. Gaps in the original dataset were filled with data digitized from contours on 1:200,000-scale Soviet General Staff Sheets (1978-1997). Contours were generated by cubic convolution averaged over four pixels using TNTmips surface-modeling capabilities. Minor artifacts resulting from the auto-contouring technique are present. Streams were auto-generated from the SRTM data in TNTmips as flow paths. Flow paths were limited in number by their Horton value on a quadrangle-by-quadrangle basis. Peak elevations were averaged over an area measuring 85 m by 85 m (represented by one pixel), and they are slightly lower than the highest corresponding point on the ground. Cultural data were extracted from files downloaded from the Afghanistan Information Management Service (AIMS) Web site (http://www.aims.org.af). The AIMS files were originally derived from maps produced by the Afghanistan Geodesy and Cartography Head Office (AGCHO). Because cultural features were not derived from the SRTM base, they do not match it precisely. Province boundaries are not exactly located. This map is part of a series that includes a geologic map, a topographic map, a Landsat natural-color-image map, and a Landsat false-color-image map for the USGS/AGS (Afghan Geological Survey) quadrangles covering Afghanistan. The maps for any given quadrangle have the same open-file number but a different letter suffix, namely, -A, -B, -C, and -D for the geologic, topographic, Landsat natural-color, and Landsat false-color maps, respectively. The open-file report (OFR) numbers for each quadrangle range in sequence from 1092 - 1123. The present map series is to be followed by a second series, in which the geology is reinterpreted on the basis of analysis of remote-sensing data, limited fieldwork, and library research. The second series is to be produced by the USGS

  11. Topographic Map of Quadrangle 3670, Jam-Kashem (223) and Zebak (224) Quadrangles, Afghanistan

    Science.gov (United States)

    Bohannon, Robert G.

    2006-01-01

    This map was produced from several larger digital datasets. Topography was derived from Shuttle Radar Topography Mission (SRTM) 85-meter digital data. Gaps in the original dataset were filled with data digitized from contours on 1:200,000-scale Soviet General Staff Sheets (1978-1997). Contours were generated by cubic convolution averaged over four pixels using TNTmips surface-modeling capabilities. Minor artifacts resulting from the auto-contouring technique are present. Streams were auto-generated from the SRTM data in TNTmips as flow paths. Flow paths were limited in number by their Horton value on a quadrangle-by-quadrangle basis. Peak elevations were averaged over an area measuring 85 m by 85 m (represented by one pixel), and they are slightly lower than the highest corresponding point on the ground. Cultural data were extracted from files downloaded from the Afghanistan Information Management Service (AIMS) Web site (http://www.aims.org.af). The AIMS files were originally derived from maps produced by the Afghanistan Geodesy and Cartography Head Office (AGCHO). Because cultural features were not derived from the SRTM base, they do not match it precisely. Province boundaries are not exactly located. This map is part of a series that includes a geologic map, a topographic map, a Landsat natural-color-image map, and a Landsat false-color-image map for the USGS/AGS (Afghan Geological Survey) quadrangles covering Afghanistan. The maps for any given quadrangle have the same open-file number but a different letter suffix, namely, -A, -B, -C, and -D for the geologic, topographic, Landsat natural-color, and Landsat false-color maps, respectively. The open-file report (OFR) numbers for each quadrangle range in sequence from 1092 - 1123. The present map series is to be followed by a second series, in which the geology is reinterpreted on the basis of analysis of remote-sensing data, limited fieldwork, and library research. The second series is to be produced by the USGS

  12. Molecular diagnostic analysis for Huntington's disease: a prospective evaluation.

    OpenAIRE

    MacMillan, J C; Davies, P.; Harper, P S

    1995-01-01

    The availability of mutation analysis for the CAG repeat expansion associated with Huntington's disease has prompted clinicians in various specialties to request testing of samples from patients displaying clinical features that might be attributable to Huntington's disease. A series of 38 cases presenting with clinical features thought possibly to be due to Huntington's disease were analysed prospectively. In 53% of such cases presenting initially with chorea and 62.5% with psychiatric sympt...

  13. Normal CAG and CCG repeats in the Huntington`s disease genes of Parkinson`s disease patients

    Energy Technology Data Exchange (ETDEWEB)

    Rubinsztein, D.C.; Leggo, J.; Barton, D.E. [Cambridge Univ. (United Kingdom)] [and others

    1995-04-24

    The clinical features of Parkinson`s disease, particularly rigidity and bradykinesia and occasionally tremor, are seen in juvenile-onset Huntington`s disease. Therefore, the CAG and CCG repeats in the Huntington`s disease gene were investigated in 45 Parkinson`s disease patients and compared to 40 control individuals. All of the Parkinson`s disease chromosomes fell within the normal size ranges. In addition, the distributions of the two repeats in the Parkinson`s disease patients did not differ significantly from those of the control population. Therefore, abnormalities of these trinucleotide repeats in the Huntington`s disease gene are not likely to contribute to the pathogenesis of Parkinson`s disease. 12 refs., 2 figs.

  14. 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.

  15. Preliminary Geologic Map of the North-Central Part of the Alamosa 30' x 60' Quadrangle, Alamosa, Conejos and Costilla Counties, Colorado

    Science.gov (United States)

    Machette, Michael N.; Thompson, Ren A.; Brandt, Theodore R.

    2008-01-01

    This geologic map presents new polygon (geologic map unit contacts) and line (terrace and lacustrine spit/barrier bar) vector data for a map comprised of four 7.5' quadrangles in the north-central part of the Alamosa, Colorado, 30' x 60' quadrangle. The quadrangles include Baldy, Blanca, Blanca SE, and Lasauses. The map database, compiled at 1:50,000 scale from new 1:24,000-scale mapping, provides geologic coverage of an area of current hydrogeologic, tectonic, and stratigraphic interest. The mapped area is located primarily in Costilla County, but contains portions of Alamosa and Conejos Counties, and includes the town of Blanca in its northeastern part. The map area is mainly underlain by surficial geologic materials (fluvial and lacustrine deposits, and eolian sand), but Tertiary volcanic and volcaniclastic rocks crop out in the San Luis Hills, which are in the central and southern parts of the mapped area. The surficial geology of this area has never been mapped at any scale greater than 1:250,000 (broad reconnaissance), so this new map provides important data for ground-water assessments, engineering geology, and the Quaternary geologic history of the San Luis Basin. Newly discovered shoreline deposits are of particular interest (sands and gravels) that are associated with the high-water stand of Lake Alamosa, a Pliocene to middle Pleistocene lake that occupied the San Luis basin prior to its overflow and cutting of a river gorge through the San Luis Hills. After the lake drained, the Rio Grande system included Colorado drainages for the first time since the Miocene (>5.3 Ma). In addition, Servilleta Basalt, which forms the Basaltic Hills on the east margin of the map area, is dated at 3.79+or-0.17 Ma, consistent with its general age range of 3.67-4.84 Ma. This map provides new geologic information for better understanding ground-water flow paths in and adjacent to the Rio Grande system. The map abuts U.S. Geological Survey Open File Report 2005-1392 (a map of

  16. Large genetic animal models of Huntington's Disease.

    Science.gov (United States)

    Morton, A Jennifer; Howland, David S

    2013-01-01

    The dominant nature of the Huntington's disease gene mutation has allowed genetic models to be developed in multiple species, with the mutation causing an abnormal neurological phenotype in all animals in which it is expressed. Many different rodent models have been generated. The most widely used of these, the transgenic R6/2 mouse, carries the mutation in a fragment of the human huntingtin gene and has a rapidly progressive and fatal neurological phenotype with many relevant pathological changes. Nevertheless, their rapid decline has been frequently questioned in the context of a disease that takes years to manifest in humans, and strenuous efforts have been made to make rodent models that are genetically more 'relevant' to the human condition, including full length huntingtin gene transgenic and knock-in mice. While there is no doubt that we have learned, and continue to learn much from rodent models, their usefulness is limited by two species constraints. First, the brains of rodents differ significantly from humans in both their small size and their neuroanatomical organization. Second, rodents have much shorter lifespans than humans. Here, we review new approaches taken to these challenges in the development of models of Huntington's disease in large brained, long-lived animals. We discuss the need for such models, and how they might be used to fill specific niches in preclinical Huntington's disease research, particularly in testing gene-based therapeutics. We discuss the advantages and disadvantages of animals in which the prodromal period of disease extends over a long time span. We suggest that there is considerable 'value added' for large animal models in preclinical Huntington's disease research.

  17. Revisiting the neuropsychiatry of Huntington's disease

    Directory of Open Access Journals (Sweden)

    Antonio Lucio Teixeira

    Full Text Available ABSTRACT Huntington's disease (HD is an autosomal dominant neurodegenerative disease classified under the choreas. Besides motor symptoms, HD is marked by cognitive and behavioral symptoms, impacting patients' functional capacity. The progression of cognitive impairment and neuropsychiatric symptoms occur in parallel with neurodegeneration. The nature of these symptoms is very dynamic, and the major clinical challenges include executive dysfunction, apathy, depression and irritability. Herein, we provide a focused updated review on the cognitive and psychiatric features of HD.

  18. [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.

  19. Geologic map of the Sappho Patera Quadrangle (V-20), Venus

    Science.gov (United States)

    McGill, George E.

    2000-01-01

    The Sappho Patera quadrangle (V–20) of Venus is bounded by 0° and 30° East longitude, 0° and 25° North latitude. It is one of 62 quadrangles covering the entire planet at a scale of 1:5,000,000. The quadrangle derives its name from Sappho Patera, a large rimmed depression (diameter about 225 km) lying on top of a shield-shaped mountain named Irnini Mons. Sappho, a noted Greek poet born about 612 B.C., spent most of her life on the island of Lesbos. All of her works were burned in 1073 by order of ecclesiastical authorities in Rome and Constantinople. What little survives was discovered in 1897 as parts of papier mâché coffins in the Fayum (Durant, 1939). The Sappho Patera quadrangle includes the central portion of Eistla Regio, an elongated, moderately elevated (relief ~1 km) region extending for about 7,500 km west-northwestward from the west end of Aphrodite Terra. It is generally interpreted to be the surface manifestation of one or more mantle plumes (Phillips and Malin, 1983; Stofan and Saunders, 1990; Kiefer and Hager, 1991; Senske and others, 1992; Grimm and Phillips, 1992; Solomon and others, 1992). Eistla Regio is dominated by several large volcanic features. All or parts of four of these occur within the Sappho Patera quadrangle: the eastern flank of Gula Mons, Irnini Mons, Anala Mons, and Kali Mons. The quadrangle also includes eight named coronae: Nehalennia, Sunrta, Libera, Belet-Ili, Gaia, Asomama, Rabzhima, and Changko. A major rift extends from Gula Mons in the northwestern corner of the quadrangle to Libera Corona near the east border. East of Irnini and Anala Montes this rift is named Guor Linea; west of the montes it is named Virtus Linea. In addition to these major features, the Sappho Patera quadrangle includes numerous smaller volcanic flows and constructs, several unnamed coronae and corona-like features, a complex array of faults, fractures, and wrinkle ridges, and extensive plains that are continuous with the regional plains that

  20. Altered cholesterol and fatty acid metabolism in Huntington disease.

    Science.gov (United States)

    Block, Robert C; Dorsey, E Ray; Beck, Christopher A; Brenna, J Thomas; Shoulson, Ira

    2010-01-01

    Huntington disease is an autosomal dominant neurodegenerative disorder characterized by behavioral abnormalities, cognitive decline, and involuntary movements that lead to a progressive decline in functional capacity, independence, and ultimately death. The pathophysiology of Huntington disease is linked to an expanded trinucleotide repeat of cytosine-adenine-guanine (CAG) in the IT-15 gene on chromosome 4. There is no disease-modifying treatment for Huntington disease, and novel pathophysiological insights and therapeutic strategies are needed. Lipids are vital to the health of the central nervous system, and research in animals and humans has revealed that cholesterol metabolism is disrupted in Huntington disease. This lipid dysregulation has been linked to specific actions of the mutant huntingtin on sterol regulatory element binding proteins. This results in lower cholesterol levels in affected areas of the brain with evidence that this depletion is pathologic. Huntington disease is also associated with a pattern of insulin resistance characterized by a catabolic state resulting in weight loss and a lower body mass index than individuals without Huntington disease. Insulin resistance appears to act as a metabolic stressor attending disease progression. The fish-derived omega-3 fatty acids, eicosapentaenoic acid and docosahexaenoic acid, have been examined in clinical trials of Huntington disease patients. Drugs that combat the dysregulated lipid milieu in Huntington disease may help treat this perplexing and catastrophic genetic disease.

  1. Arithmetic Word-Problem-Solving in Huntington's Disease

    Science.gov (United States)

    Allain, P.; Verny, C.; Aubin, G.; Pinon, K.; Bonneau, D.; Dubas, F.; Gall, D.L.

    2005-01-01

    The purpose of this study was to examine executive functioning in patients with Huntington's disease using an arithmetic word-problem-solving task including eight solvable problems of increasing complexity and four aberrant problems. Ten patients with Huntington's disease and 12 normal control subjects matched by age and education were tested.…

  2. Comprehension of Complex Discourse in Different Stages of Huntington's Disease

    Science.gov (United States)

    Saldert, Charlotta; Fors, Angelika; Stroberg, Sofia; Hartelius, Lena

    2010-01-01

    Background: Huntington's disease not only affects motor speech control, but also may have an impact on the ability to produce and understand language in communication. Aims: The ability to comprehend basic and complex discourse was investigated in three different stages of Huntington's disease. Methods & Procedures: In this experimental group…

  3. Geologic Map of the Meskhent Tessera Quadrangle (V-3), Venus

    Science.gov (United States)

    Ivanov, Mikhail A.; Head, James W.

    2008-01-01

    The Magellan spacecraft orbited Venus from August 10, 1990, until it plunged into the Venusian atmosphere on October 12, 1994. Magellan Mission objectives included (1) improving the knowledge of the geological processes, surface properties, and geologic history of Venus by analysis of surface radar characteristics, topography, and morphology and (2) improving the knowledge of the geophysics of Venus by analysis of Venusian gravity. The Meskhent Tessera quadrangle is in the northern hemisphere of Venus and extends from lat 50 degrees to 75 degrees N. and from long 60 degrees to 120 degrees E. In regional context, the Meskhent Tessera quadrangle is surrounded by extensive tessera regions to the west (Fortuna and Laima Tesserae) and to the south (Tellus Tessera) and by a large basinlike lowland (Atalanta Planitia) on the east. The northern third of the quadrangle covers the easternmost portion of the large topographic province of Ishtar Terra (northwestern map area) and the more localized upland of Tethus Regio (northeastern map area).

  4. Examination of Huntington's disease in a Chinese family.

    Science.gov (United States)

    Yu, Mingxia; Li, Xiaogai; Wu, Sanyun; Shen, Ji; Tu, Jiancheng

    2014-02-15

    We report brain imaging and genetic diagnosis in a family from Wuhan, China, with a history of Huntington's disease. Among 17 family members across three generations, four patients (II2, II6, III5, and III9) show typical Huntington's disease, involuntary dance-like movements. Magnetic resonance imaging found lateral ventricular atrophy in three members (II2, II6, and III5). Moreover, genetic analysis identified abnormally amplified CAG sequence repeats (> 40) in two members (III5 and III9). Among borderline cases, with clinical symptoms and brain imaging features of Huntington's disease, two cases were identified (II2 and II6), but shown by mutation analysis for CAG expansions in the important transcript 15 gene, to be non-Huntington's disease. Our findings suggest that clinical diagnosis of Huntington's disease requires a combination of clinical symptoms, radiological changes, and genetic diagnosis.

  5. Quaternary geologic map of the Winnipeg 4 degrees x 6 degrees quadrangle, United States and Canada

    Science.gov (United States)

    Fullerton, D. S.; Ringrose, S.M.; Clayton, Lee; Schreiner, B.T.; Goebel, J.E.

    2000-01-01

    The Quaternary Geologic Map of the Winnipeg 4? ? 6? Quadrangle, United States and Canada, is a component of the U.S. Geological Survey Quaternary Geologic Atlas of the United States map series (Miscellaneous Investigations Series I-1420), an effort to produce 4? ? 6? Quaternary geologic maps, at 1:1 million scale, of the entire conterminous United States and adjacent Canada. The map and the accompanying text and supplemental illustrations provide a regional overview of the areal distributions and characteristics of surficial deposits and materials of Quaternary age (~1.8 Ma to present) in parts of North Dakota, Minnesota, Manitoba, and Saskatchewan. The map is not a map of soils as soils are recognized in agriculture. Rather, it is a map of soils as recognized in engineering geology, or of substrata or parent materials in which agricultural soils are formed. The map units are distinguished chiefly on the basis of (1)genesis (processes of origin) or environments of deposition: for example, sediments deposited primarily by glacial ice (glacial deposits or till), sediments deposited in lakes (lacustrine deposits), or sediments deposited by wind (eolian deposits); (2) age: for example, how long ago the deposits accumulated; (3) texture (grain size)of the deposits or materials; (4) composition (particle lithology) of the deposits or materials; (5) thickness; and (6) other physical, chemical, and engineering properties. Supplemental illustrations show (1) temporal correlation of the map units, (2) the areal relationships of late Wisconsin glacial ice lobes and sublobes, (3) temporal and spatial correlation of late Wisconsin glacial phases, readvance limits, and ice margin stillstands, (4) temporal and stratigraphic correlation of surface and subsurface glacial deposits in the Winnipeg quadrangle and in adjacent 4? ? 6? quadrangles, and (5) responsibility for state and province compilations. The database provides information related to geologic hazards (for example

  6. Geologic map of the Vail West quadrangle, Eagle County, Colorado

    Science.gov (United States)

    Scott, Robert B.; Lidke, David J.; Grunwald, Daniel J.

    2002-01-01

    This new 1:24,000-scale geologic map of the Vail West 7.5' quadrangle, as part of the USGS Western Colorado I-70 Corridor Cooperative Geologic Mapping Project, provides new interpretations of the stratigraphy, structure, and geologic hazards in the area on the southwest flank of the Gore Range. Bedrock strata include Miocene tuffaceous sedimentary rocks, Mesozoic and upper Paleozoic sedimentary rocks, and undivided Early(?) Proterozoic metasedimentary and igneous rocks. Tuffaceous rocks are found in fault-tilted blocks. Only small outliers of the Dakota Sandstone, Morrison Formation, Entrada Sandstone, and Chinle Formation exist above the redbeds of the Permian-Pennsylvanian Maroon Formation and Pennsylvanian Minturn Formation, which were derived during erosion of the Ancestral Front Range east of the Gore fault zone. In the southwestern area of the map, the proximal Minturn facies change to distal Eagle Valley Formation and the Eagle Valley Evaporite basin facies. The Jacque Mountain Limestone Member, previously defined as the top of the Minturn Formation, cannot be traced to the facies change to the southwest. Abundant surficial deposits include Pinedale and Bull Lake Tills, periglacial deposits, earth-flow deposits, common diamicton deposits, common Quaternary landslide deposits, and an extensive, possibly late Pliocene landslide deposit. Landscaping has so extensively modified the land surface in the town of Vail that a modified land-surface unit was created to represent the surface unit. Laramide movement renewed activity along the Gore fault zone, producing a series of northwest-trending open anticlines and synclines in Paleozoic and Mesozoic strata, parallel to the trend of the fault zone. Tertiary down-to-the-northeast normal faults are evident and are parallel to similar faults in both the Gore Range and the Blue River valley to the northeast; presumably these are related to extensional deformation that occurred during formation of the northern end of the

  7. Communication and Huntington's Disease: Qualitative Interviews and Focus Groups with Persons with Huntington's Disease, Family Members, and Carers

    Science.gov (United States)

    Hartelius, Lena; Jonsson, Maria; Rickeberg, Anneli; Laakso, Katja

    2010-01-01

    Background: As an effect of the cognitive, emotional and motor symptoms associated with Huntington's disease, communicative interaction is often dramatically changed. No study has previously included the subjective reports on this subject from individuals with Huntington's disease. Aims: To explore the qualitative aspects of how communication is…

  8. 3-NP-induced neurodegeneration studies in experimental models of Huntington's disease : apoptosis in Huntington's disease

    NARCIS (Netherlands)

    Vis, Johanna Catharina

    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 sele

  9. Isotropic 2D quadrangle meshing with size and orientation control

    KAUST Repository

    Pellenard, Bertrand

    2011-12-01

    We propose an approach for automatically generating isotropic 2D quadrangle meshes from arbitrary domains with a fine control over sizing and orientation of the elements. At the heart of our algorithm is an optimization procedure that, from a coarse initial tiling of the 2D domain, enforces each of the desirable mesh quality criteria (size, shape, orientation, degree, regularity) one at a time, in an order designed not to undo previous enhancements. Our experiments demonstrate how well our resulting quadrangle meshes conform to a wide range of input sizing and orientation fields.

  10. Geology of the Lachesis Tessera Quadrangle (V-18), Venus

    Science.gov (United States)

    McGowan, Eileen M.; McGill, George G.

    2010-01-01

    The Lachesis Tessera Quadrangle (V-18) lies between 25deg and 50deg north, 300deg and 330deg east. Most of the quadrangle consists of "regional plains" (1) of Sedna and Guinevere Planitiae. A first draft of the geology has been completed, and the tentative number of mapped units by terrain type is: tesserae - 2; plains - 4; ridge belts - 1; fracture belts - 1 (plus embayed fragments of possible additional belts); coronae - 5; central volcanoes - 2; shield flows - 2; paterae - 1; impact craters - 13; undifferentiated flows - 1; bright materials - 1.

  11. Geological mapping of the Kuiper quadrangle (H06) of Mercury

    Science.gov (United States)

    Giacomini, Lorenza; Massironi, Matteo; Galluzzi, Valentina

    2017-04-01

    Kuiper quadrangle (H06) is located at the equatorial zone of Mercury and encompasses the area between longitudes 288°E - 360°E and latitudes 22.5°N - 22.5°S. The quadrangle was previously mapped for its most part by De Hon et al. (1981) that, using Mariner10 data, produced a final 1:5M scale map of the area. In this work we present the preliminary results of a more detailed geological map (1:3M scale) of the Kuiper quadrangle that we compiled using the higher resolution of MESSENGER data. The main basemap used for the mapping is the MDIS (Mercury Dual Imaging System) 166 m/pixel BDR (map-projected Basemap reduced Data Record) mosaic. Additional datasets were also taken into account, such as DLR stereo-DEM of the region (Preusker et al., 2016), global mosaics with high-incidence illumination from the east and west (Chabot et al., 2016) and MDIS global color mosaic (Denevi et al., 2016). The preliminary geological map shows that the western part of the quadrangle is characterized by a prevalence of crater materials (i.e. crater floor, crater ejecta) which were distinguished into three classes on the basis of their degradation degree (Galluzzi et al., 2016). Different plain units were also identified and classified as: (i) intercrater plains, represented by densely cratered terrains, (ii) intermediate plains, which are terrains with a moderate density of superposed craters, and (iii) smooth plains, which are poorly cratered volcanic deposits emplaced mainly on the larger crater floors. Finally, several structures were mapped all over the quadrangle. Most of these features are represented by thrusts, some of which appear to form systematic alignments. In particular, two main thrust systems have been identified: i) the "Thakur" system, a 1500 km-long system including several scarps with a NNE-SSW orientation, located at the edge between the Kuiper and Beethoven (H07) quadrangles; ii) the "Santa Maria" system, located at the centre of the quadrangle. It is a 1700 km

  12. Characterization of conservative somatic instability of the CAG repeat region in Huntington`s disease

    Energy Technology Data Exchange (ETDEWEB)

    Schaefer, F.V.; Calikoglu, A.S.; Whetsell, L.H. [H.A. Chapman Research Institute of Medical Genetics, Tulsa, OK (United States)

    1994-09-01

    Instability and enlargement of a CAG repeat region at the beginning of the huntingtin gene (IT-15) has been linked with Huntington`s disease. The CAG repeat size shows a highly significant correlation with age-of-onset of clinicial features in individuals with 40 or more repeats who have Huntington disease. The clinical status of nonsymptomatic individuals with 30 to 39 CAG repeats is considered ambiguous. In order to define more carefully the nature of the HD expansion instability, we examined patients in our HD population using a discriminating fluorescence-based PCR approach. The degree of somatic mutation increases with both earlier age of onset and the size of the inherited allele. A single prominent band one repeat larger than the index peak was typical in individuals with 40-41 CAG repeats. Three to four larger bands are typically discerned in individuals with 50 or more repeats. In an extreme example, an individual with approximately 95 repeats had at least 8 prominent bands. Plotting the degree of somatic mutation relative to the size of the HD allele shows somatic mutation activity increases with size. By this approach 40-60% of the alleles in a 40-41 CAG repeat HD loci is represented in the primary allele. In contrast, the primary allele represents a relatively minor proportion of the total alleles for expansions greater than 50 CAG repeats (10-20%). The limited range of somatic mutation suggest that the instability is restricted to very early stages of embryogenesis before tissue development diverges or that persistent somatic instability occurs at a slow rate. Therefore, the properties of somatic instability in Huntington`s disease have aspects that are both in common but also different from that found in other trinucleotide repeat expanding diseases such as myotonic muscular dystrophy and fragile X syndrome.

  13. Geologic map of the Ganiki Planitia quadrangle (V-14), Venus

    Science.gov (United States)

    Grosfils, Eric B.; Long, Sylvan M.; Venechuk, Elizabeth M.; Hurwitz, Debra M.; Richards, Joseph W.; Drury, Dorothy E.; Hardin, Johanna

    2011-01-01

    The Ganiki Planitia (V-14) quadrangle on Venus, which extends from 25° N. to 50° N. and from 180° E. to 210° E., derives its name from the extensive suite of plains that dominates the geology of the northern part of the region. With a surface area of nearly 6.5 x 106 km2 (roughly two-thirds that of the United States), the quadrangle is located northwest of the Beta-Atla-Themis volcanic zone and southeast of the Atalanta Planitia lowlands, areas proposed to be the result of large scale mantle upwelling and downwelling, respectively. The region immediately south of Ganiki Planitia is dominated by Atla Regio, a major volcanic rise beneath which localized upwelling appears to be ongoing, whereas the area just to the north is dominated by the orderly system of north-trending deformation belts that characterize Vinmara Planitia. The Ganiki Planitia quadrangle thus lies at the intersection between several physiographic regions where extensive mantle flow-induced tectonic and volcanic processes are thought to have occurred. The geology of the V-14 quadrangle is characterized by a complex array of volcanic, tectonic, and impact-derived features. There are eleven impact craters with diameters from 4 to 64 km, as well as four diffuse 'splotch' features interpreted to be the product of near-surface bolide explosions. Tectonic activity has produced heavily deformed tesserae, belts of complex deformation and rifts as well as a distributed system of fractures and wrinkle ridges. Volcanic activity has produced extensive regional plains deposits, and in the northwest corner of the quadrangle these plains host the initial (or terminal) 700 km of the Baltis Vallis canali, an enigmatic volcanic feature with a net length of ~7,000 km that is the longest channel on Venus. Major volcanic centers in V-14 include eight large volcanoes and eight coronae; all but one of these sixteen features was noted during a previous global survey. The V-14 quadrangle contains an abundance of minor

  14. Altered Fractional Anisotropy in Early Huntington's Disease

    Directory of Open Access Journals (Sweden)

    Silky Singh

    2013-02-01

    Full Text Available Huntington's disease (HD is a dominantly inherited neurodegenerative disease best known for chorea. The disorder includes numerous other clinical features including mood disorder, eye movement abnormalities, cognitive disturbance, pendular knee reflexes, motor impersistence, and postural instability. We describe a mild case of HD early in the disease course with depression and subtle neurological manifestations. In addition, we review MRI and diffusion tensor imaging features in this patient. The bicaudate ratio, a measure of caudate atrophy, was increased. Fractional anisotropy values of the bilateral caudate and putamen were increased, signifying neurodegeneration of these structures in HD.

  15. Huntingtin processing in pathogenesis of Huntington disease

    Institute of Scientific and Technical Information of China (English)

    Zhenghong QIN; Zhenlun GU

    2004-01-01

    Huntington's disease (HD) is caused by an expansion of the polyglutamine tract in the protein named huntingtin.The expansion of polyglutamine tract induces selective degeneration of striatal projection neurons and cortical pyramidal neurons. The bio-hallmark of HD is the formation of intranuclear inclusions and cytoplasmic aggregates in association with other cellular proteins in vulnerable neurons. Accumulation of N-terminal mutant huntingtin in HD brains is prominent. These pathological features are related to protein misfolding and impairments in protein processing and degradation in neurons. This review focused on the role of proteases in huntingtin cleavage and degradation and the contribution of altered processing of mutant huntingtin to HD pathogenesis.

  16. Cystathionine γ-lyase deficiency mediates neurodegeneration in Huntington's disease.

    Science.gov (United States)

    Paul, Bindu D; Sbodio, Juan I; Xu, Risheng; Vandiver, M Scott; Cha, Jiyoung Y; Snowman, Adele M; Snyder, Solomon H

    2014-05-01

    Huntington's disease is an autosomal dominant disease associated with a mutation in the gene encoding huntingtin (Htt) leading to expanded polyglutamine repeats of mutant Htt (mHtt) that elicit oxidative stress, neurotoxicity, and motor and behavioural changes. Huntington's disease is characterized by highly selective and profound damage to the corpus striatum, which regulates motor function. Striatal selectivity of Huntington's disease may reflect the striatally selective small G protein Rhes binding to mHtt and enhancing its neurotoxicity. Specific molecular mechanisms by which mHtt elicits neurodegeneration have been hard to determine. Here we show a major depletion of cystathionine γ-lyase (CSE), the biosynthetic enzyme for cysteine, in Huntington's disease tissues, which may mediate Huntington's disease pathophysiology. The defect occurs at the transcriptional level and seems to reflect influences of mHtt on specificity protein 1, a transcriptional activator for CSE. Consistent with the notion of loss of CSE as a pathogenic mechanism, supplementation with cysteine reverses abnormalities in cultures of Huntington's disease tissues and in intact mouse models of Huntington's disease, suggesting therapeutic potential.

  17. National Uranium Resource Evaluation: Iron River Quadrangle, Michigan and Wisconsin

    Energy Technology Data Exchange (ETDEWEB)

    Frishman, D

    1982-09-01

    No area within the Iron River 1/sup 0/ x 2/sup 0/ Quadrangle, Michigan and Wisconsin, appears to be favorable for the existence of a minimum of 100 tons of U/sub 3/O/sub 8/ at a grade of 0.01 percent or better.

  18. Surficial geology of Hannibal Quadrangle, Oswego County, New York

    Science.gov (United States)

    Miller, Todd S.

    1981-01-01

    The location and extent of 10 kinds of surficial deposits in part of Hannibal quadrangle, Oswego County, N.Y., are mapped on a 7.5-minute U.S. Geological Survey topographic map. The map was compiled to indicate the lithology and potential for ground-water development at any specific location. (USGS)

  19. Geology of the Pine Mountain quadrangle, Mesa county, Colorado

    Science.gov (United States)

    Cater, Fred W.

    1953-01-01

    The Pine Mountain quadrangle is one of eighteen 7 1/2-minute quadrangles covering the principal carnotite-producing area of southwestern Colorado. The geology of these quadrangles was mapped by the U.S. Geological Survey for the Atomic Energy Commission as part of a comprehensive study of carnotite deposits. The rocks exposed in the eighteen quadrangles consist of crystalline rocks of pre-Cambrian age and sedimentary rocks that range in age from Paleozoic to Quaternary. Over mush of the area the sedimentary rocks are flat lying, but in places the rocks are disrupted by high-angle faults, and northwest-trending folds. Conspicuous among the folds are large anticlines having cores of intrusive salt and gypsum. Most of the carnotite deposits are confines to the Salt Wash sandstone member of the Jurassic Morrison formation. Within this sandstone, most of the deposits are spottily distributed through an arcuate zone known as the "Uravan Mineral Belt". Individual deposits range in sizer from irregular masses containing only a few ton of ore to large, tabular masses containing many thousands of tons. The ore consists largely of sandstone selectively impregnated and in part replaced by uranium and vanadium minerals. Most of the deposits appear to be related to certain sedimentary structures in sandstones of favorable composition.

  20. Geology of the Horse Range Mesa quadrangle, Colorado

    Science.gov (United States)

    Cater, Fred W.; Bush, A.L.; Bell, Henry; Withington, C.F.

    1953-01-01

    The Horse Range Mesa quadrangle is one of eighteen 7 1/2-minute quadrangles covering the principal carnotite-producing area of southwestern Colorado. The geology of the quadrangles was mapped by the U.S. Geological Survey for the Atomic Energy Commission as part of a comprehensive study of carnotite deposits. The rocks exposed in the eighteen quadrangles consist of crystalline rocks of pre-Cambrian age and sedimentary rocks that range in age from late Paleozoic to Quaternary. Over much of the area the sedimentary rocks are flat lying, but in places the rocks are disrupted by high-angle faults, and northwest-trending folds. Conspicuous among the folds are large anticlines having cores of intrusive salt and gypsum. Most of the carnotite deposits are confined to the Salt Wash sandstone member of the Jurassic Morrison formation. Within this sandstone, most of the deposits are spottily distributed through an arcuate zone known as the "Uravan Mineral Belt". Individual deposits range in size from irregular masses containing only a few tons of ore to large, tabular masses containing many thousands of tons. The ore consists largely of sandstone selectively impregnated and in part replaced by uranium and vanadium minerals. Most of the deposits appear to be related to certain sedimentary strictures in sandstones of favorable composition.

  1. Geology of the Red Canyon quadrangle, Montrose county, Colorado

    Science.gov (United States)

    McKay, E.J.; Jobin, D.A.

    1953-01-01

    The Red Canyon quadrangle is one of eighteen 7 1/2-minute quadrangles covering the principal carnotite-producing area of southwestern Colorado. The geology of these quadrangles was mapped by the U.S. Geological Survey for the Atomic Energy Commission as part of a comprehensive study of carnotite deposits. The rocks exposed in the eighteen quadrangles consist of crystalline rocks of pre-Cambrian age and sedimentary rocks that range in age from late Paleozoic to Quaternary. Over much of the area the sedimentary rocks are flat lying, but in places the rocks are disrupted by high-angle faults, and northwest-trending folds. Conspicuous among the folds are large anticlines having cores of intrusive salt and gypsum. Most of the carnotite deposits are confined to the Salt Wash sandstone member of the Jurassic Morrison formation. Within this sandstone, most of the deposits are spottily distributed through an arcuate zone known as the "Uruvan Mineral Belt". Individual deposits range in size from irregular masses containing only a few tons of ore to large, tabular masses containing many thousands of tons. The ore consists largely of sandstone selectively impregnated and in part replaced by uranium and vanadium, minerals. Most of the deposits appear to be related to certain sedimentary structures in sandstones of favorable composition.

  2. Geology of the Paradox quadrangle, Montrose county, Colorado

    Science.gov (United States)

    Withington, C.F.

    1954-01-01

    The Paradox quadrangle is one of eighteen 7 1/2-minute quadrangles covering the principal carnotite-producing area of southwestern Colorado. The geology of these quadrangles was mapped by the U.S. Geological Survey for the Atomic Energy Commission as part of a comprehensive study of carnotite deposits. The rocks exposed in the eighteen quadrangles consist of crystalline rocks of pre-Cambrian age and sedimentary rocks that range in age from late Paleozoic to Quaternary. Over much of the area the sedimentary rocks are flat lying, but in places the rocks are disrupted by high-angle faults, and northwest-trending folds. Conspicuous among the folds are large anticlines having cores of intrusive salt and gypsum. Most of the carnotite deposits are confined to the Salt Wash sandstone member of the Jurassic Morrison formation, Within this sandstone, most of the deposits are spottily distributed through an arcuate zone known as the "Uravan Mineral Belt". Individual deposits range in size from irregular masses containing only a few tons of ore to large, tabular masses containing thousands of tons. The ore consists largely of sandstone selectively impregnated and in part replaced by uranium and vanadium minerals. Most of the deposits appear to be related to certain sedimentary structures in sandstones of favorable composition.

  3. Geology of the Atkinson Creek quadrangle, Montrose county, Colorado

    Science.gov (United States)

    McKay, E.J.

    1953-01-01

    The Atkinson Creek quadrangle is one of eighteen 7 1/2-minute quadrangles covering the principal carnotite-producing area of southwestern Colorado. The geology of the quadrangles was mapped by the U.S. Geological Survey for the Atomic Energy Commission as part of a comprehensive study of carnotite deposits. The rocks exposed in the eighteen quadrangles consist of crystalline rocks of pre-Cambrian age and sedimentary rocks that rangein age from late Paleozoic to Quaternary. Over much of the area the sedimentary rocks are flat lying, but in places the rocks are disrupted by high-angle faults, and northwest-trending folds. Conspicuous among the folds are large anticlines having cores of intrusive salt and gypsum. Most of the carnotite deposits are confines to the Salt Wash sandstone member of the Jurassic Morrison formation. Within this sandstone, most of the deposits are spottily distributed through an arcuate zone known as the "Uravan Mineral Bath". Individual deposits range in size from irregular masses containing only a few tons of ore to large, tabular masses containing many thousands of tons. The ore consists largely of sandstone selectively impregnated and in part replaced by uranium and vanadium minerals. Most of the deposits appear to be related to certain sedimentary structures in sandstone of favorable composition.

  4. Geology of the Roc Creek quadrangle, Montrose county, Colorado

    Science.gov (United States)

    Shoemaker, E.M.

    1954-01-01

    The Roc Creek quadrangle is one of eighteen 7 1/2-minute quadrangles covering the principal carnotite-producing area of southwestern Colorado. The geology of these quadrangles was mapped by the U.S. Geological Survey for the U.S. Atomic Energy Commission as part of a comprehensive study of carnotite deposits. The rocks exposed in the eighteen quadrangles consist of crystalline rocks of pre-Cambrian age and sedimentary rocks that range in age from late Paleozoic to Quaternary. Over much of the area the sedimentary rocks are flat lying, but in places the rocks are disrupted by high-angle faults and northwest-trending folds. Conspicuous among the folds are large anticlines having cores of intrusive salt and gypsum. Most of the carnotite deposits are confined to the Salt Wash sandstone member of the Jurassic Morrison formation. Within this sandstone, most of the deposits are spottily distributed through an arcuate zone known as the "Uravan mineral belt". Individual deposits range in size from irregular masses containing only a few tons of ore to large, tabular masses containing many thousands of tons. The ore consists largely of sandstone selectively impregnated and in part replaced by uranium and vanadium minerals. Most of the deposits appear to be related to certain sedimentary in sandstones of favorable composition.

  5. Geology of the Juanita Arch quadrangle, Mesa county, Colorado

    Science.gov (United States)

    Shoemaker, Eugene M.

    1954-01-01

    The Juanita Arch quadrangle is one of eighteen 7 1/2-minute quadrangles covering the principal carnotite-producing area of southwestern Colorado. The geology of these quadrangles was mapped by the U.S. Geological Survey for the Atomic Energy Commission as part of a comprehensive study of carnotite deposits. The rocks exposed in the eighteen quadrangles consist of crystalline rocks of pre-Cambrian age and sedimentary rocks that range in age from late Paleozoic to Quaternary. Over much of the area the sedimentary rocks are flat lying, but in places the rocks are disrupted by high-angle faults and northwest-trending folds. Conspicuous among the folds are large anticlines having cores of intrusive salt and gypsum. Most of the carnotite deposits are confined to the Salt Wash sandstone member of the Jurassic Morrison formation. Within this sandstone, most of the deposits are spottily distributed through an arcuate zone known as the "Uravan Mineral Belt". Individual deposits range in size from irregular masses containing only a few tons of ore ro large, tabular masses containing many thousands of tons. The ore consists largely of sandstone selectively impregnated and in part replaced by uranium and vanadium minerals. Most of the deposits appear to be related to certain sedimentary structures in sandstone of favorable construction.

  6. Geology of the Uravan quadrangle, Montrose county, Colorado

    Science.gov (United States)

    Cater, Fred W.; Butler, A.P.; McKay, E.J.; Boardman, Robert L.

    1954-01-01

    The Uravan quadrangle is one of eighteen 7 1/2-minute quadrangles covering the principal carnotite-producing area of the southwestern Colorado. The geology of these quadrangles was mapped by the U.S. Geological Survey for the Atomic Energy Commission as part of a comprehensive study of carnotite deposits. The rocks exposed in the eighteen quadrangles consist of crystalline rocks of pre-Cambrian age and sedimentary rocks that range in age from late Paleozoic to Quaternary. Over much of the area the sedimentary rocks are flat lying, but in places the rocks are disrupted by high-angle faults, and northwest-trending folds. Conspicuous among the folds are large anticlines having cores of intrusive salt and gypsum. Most of the carnotite deposits are confined to the Salt Wash sandstone member of the Jurassic Morrison formation. Within this sandstone, most of the deposits are spottily distributed through an arcuate zone known as the "Uravan Mineral Belt". Individual deposits range in size from irregular masses containing only a few tons of ore to large, tabular masses containing many thousands of tons. The ore consists largely of sandstone selectively impregnated and in part replaced by uranium and vanadium minerals. Most of the deposits appear to the related to certain sedimentary structures in sandstones of favorable composition.

  7. Geology of the Calamity Mesa quadrangle, Mesa county, Colorado

    Science.gov (United States)

    Cater, Fred W.; Stager, Harold K.

    1953-01-01

    The Calamity Mesa quadrangle is one of eighteen 7 1/2-minute quadrangles covering the principal carnotite-producing area of southwestern Colorado. The geology of these quadrangles was mapped by the U.S. Geological Survey for the Atomic Energy Commission as part of a comprehensive study of carnotite deposits. The rocks exposed in the eighteen quadrangles consist of crystalline rocks of pre-Cambrian age and sedimentary rocks the range in age from late Paleozoic to Quaternary. Over much of the area the sedimentary rocks are flat lying, but in places the rocks are disrupted by high-angle faults, and northwest-trending folds. Conspicuous among the folds are large anticlines having cores of intrusive salt and gypsum. Most of the carnotite deposits are confined to the Salt Wash sandstone member of the Jurassic Morrison formation. Within this sandstone, most of the deposits are spottily distributed through an arcuate zone known as the "Uravan Mineral Belt". Individual deposits range in size from irregular masses containing only a few tons of ore to large tabular masses containing many thousands of tons. The ore consists largely of sandstone selectively impregnated and in part replaced by uranium and vanadium minerals. Most of the deposits appear to be related to certain sedimentary structures in sandstones of favorable composition.

  8. Geology of the Gateway quadrangle, Mesa county Colorado

    Science.gov (United States)

    Cater, Fred W.

    1953-01-01

    The Gateway quadrangle is one of eighteen 7 1/2-minute quadrangles covering the principal carnotite-producing area of southwestern Colorado. The geology of these quadrangles was mapped by the U.S. Geological Survey for the Atomic Energy Commission as part of a comprehensive study of carnotite deposits. The rocks exposed in the eighteen quadrangles consist of crystalline rocks of pre-Cambrian age and sedimentary rocks that range in age from late Paleozoic to Quaternary. Over much of the area the sedimentary rocks are flat lying, but in places the rocks are disrupted by hih-angle faults, and northwest-trending folds. Conspicuous among the folds are large anticlines having cores of intrusive salt and gypsum. Most of the carnotite deposits are confined to the Salt Wash sandstone member of Jurassic Morrison formation. Within this sandstone, most of the deposits are spottily distributed through an arcuate zone known as "Uruvan Mineral Belt". Individual deposits range in size from irregular masses containing only a few tons of ore to large, tabular masses containing many thousands of tons. The ore consists largely of sandstone selectively impregnated and in part replaced by uranium and vanadium minerals. Most of the deposits appear to be related to certain sedimentary structures in sandstones of favorable composition.

  9. Geologic map of the Agnesi quadrangle (V-45), Venus

    Science.gov (United States)

    Hansen, Vicki L.; Tharalson, Erik R.

    2014-01-01

    The Agnesi quadrangle (V–45), named for centrally located Agnesi crater, encompasses approximately 6,500,000 km2 extending from lat 25° to 50° S. and from long 30° to 60° E. The V–45 quadrangle lies within Venus’ lowland broadly between highlands Ovda Regio to the northeast and Alpha Regio to the west. The region ranges in altitude from 6,051 to 6,054 km, with an average of ~6,052 km, which is essentially mean planetary radius. The quadrangle displays a wide range of features including large to small arcuate exposures of ribbon-tessera terrain (Hansen and Willis, 1998), ten lowland coronae, two montes, 13 pristine impact craters, and long but localized volcanic flows sourced to the west in V–44. Shield terrain (Hansen, 2005) occurs across much of the V–45 quadrangle. Although V–45 lies topographically within the lowland, it includes only one planitia (Fonueha Planitia), perhaps because the features mentioned decorate it.

  10. Digital bedrock geologic map of the Johnson quadrangle, Vermont

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital Data from VG98-2 Thompson, PJ�and Thompson, TB, 1998,�Digital bedrock geologic map of the Johnson quadrangle, Vermont: VGS Open-File Report VG98-2, 2 plates,...

  11. Digital bedrock geologic map of the Eden quadrangle, Vermont

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital Data from VG98-3 Kim, J, Springston, G, and Gale, M, 1998,�Digital bedrock geologic map of the Eden quadrangle, Vermont: VGS Open-File Report VG98-3, 2...

  12. Digital bedrock geologic map of the Chester quadrangle, Vermont

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital Data from VG95-576A Ratcliffe, N.M., 1995,�Digital bedrock geologic map of the Chester quadrangle, Vermont: USGS Open-File Report 95-576, 2 plates, scale...

  13. Digital bedrock geologic map of the Plymouth quadrangle, Vermont

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital Data from VG94-654A Walsh, G.J., and Ratcliffe, N.M., 1994,�Digital bedrock geologic map of the Plymouth quadrangle, Vermont: USGS Open-File Report 94-654, 2...

  14. Geologic map of the Clifton Quadrangle, Mesa County, Colorado

    Science.gov (United States)

    Carrara, P.E.

    2001-01-01

    1:24,000-scale geologic mapping in the Clifton 7.5' quadrangle, in support of the USGS Colorado River/I-70 Corridor Cooperative Geologic Mapping Project, provides interpretations of the Quaternary stratigraphy and geologic hazards in this area of the Grand Valley. The Clifton 1:24,000 quadrangle is in Mesa County in western Colorado. Because the map area is dominated by various surficial deposits, the map depicts 16 different Quaternary units. Five prominent river terraces are present in the quadrangle containing gravels deposited by the Colorado River. The map area contains a large landslide deposit on the southern slopes of Mount Garfield. The landslide developed in the Mancos Shale and contains large blocks of the overlying Mesaverde Group. In addition, the landslide is a source of debris flows that have closed I-70 in the past. The major bedrock unit in the quadrangle is the Mancos Shale of Upper Cretaceous age. The map is accompanied by text containing unit descriptions, and sections on geologic hazards (including landslides, piping, gullying, expansive soils, and flooding), and economic geology (including sand and gravel). A table indicates what map units are susceptible to a given hazard. Approximately 20 references are cited at the end of the report.

  15. Unawareness of motor phenoconversion in Huntington disease.

    Science.gov (United States)

    McCusker, Elizabeth A; Gunn, David G; Epping, Eric A; Loy, Clement T; Radford, Kylie; Griffith, Jane; Mills, James A; Long, Jeffrey D; Paulsen, Jane S

    2013-09-24

    To determine whether Huntington disease (HD) mutation carriers have motor symptoms (complaints) when definite motor onset (motor phenoconversion) is diagnosed and document differences between the groups with and without unawareness of motor signs. We analyzed data from 550 HD mutation carriers participating in the multicenter PREDICT-HD Study followed through the HD prodrome. Data analysis included demographics, the Unified Huntington's Disease Rating Scale (UHDRS) and the Participant HD History of symptoms, self-report of progression, and cognitive, behavioral, and imaging measures. Unawareness was identified when no motor symptoms were self-reported but when definite motor HD was diagnosed. Of 38 (6.91%) with onset of motor HD, almost half (18/38 = 47.36%) had no motor symptoms despite signs of disease on the UHDRS motor rating and consistent with unawareness. A group with motor symptoms and signs was similar on a range of measures to the unaware group. Those with unawareness of HD signs reported less depression. Patients with symptoms had more striatal atrophy on imaging measures. Only half of the patients with newly diagnosed motor HD had motor symptoms. Unaware patients were less likely to be depressed. Self-report of symptoms may be inaccurate in HD at the earliest stage.

  16. 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.

  17. Digital bedrock geologic map of the Arlington quadrangle and a Vermont portion of the Shushan quadrangle, Vermont: USGS Open-File Report 95-483, 2 plates, scale 1:24000

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital Data from VG95-483A Lyttle, PT, Digital bedrock geologic map of the Arlington quadrangle and a Vermont portion of the Shushan quadrangle, Vermont: USGS...

  18. Association of Huntington's disease and schizophrenia-like psychosis in a Huntington's disease pedigree

    OpenAIRE

    Guimarães João; Xavier Miguel; Corrêa Bernardo

    2006-01-01

    Abstract Background Huntington's disease (HD) is a dominantly inherited, neurodegenerative disorder due to expansion of a polymorphic trinucleotide repeat in the short arm of chromosome 4. Clinical manifestations consist of a triad of choreic movements, cognitive decline and psychiatric syndromes starting in the fourth to fifth decade. Psychiatric manifestations vary and may precede motor and cognitive changes. Personality changes and depression occur most commonly. Paranoid schizophrenia-lik...

  19. 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.

  20. 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.

  1. 1H magnetic resonance spectroscopy in preclinical Huntington disease

    NARCIS (Netherlands)

    van Oostrom, Joost C. H.; Sijens, Paul E.; Roos, Raymund A. C.; Leenders, Klaus L.

    2007-01-01

    Huntington disease (HD) is a hereditary brain disease, causing progressive deterioration after a preclinical phase. The pathophysiology of early brain abnormalities around disease onset is largely unknown. Some preclinical mutation carriers (PMC) show structural or metabolic changes on brain imaging

  2. Juvenile Huntington's disease: a case report and literature review.

    Science.gov (United States)

    Reyes Molón, L; Yáñez Sáez, R M; López-Ibor Alcocer, M I

    2010-01-01

    Huntington's disease is the most frequent neurodegenerative disease with a prevalence of fewer than 10 cases per 10,000 inhabitants; the juvenile form is responsible for less than 10% of all cases. Huntington's disease belongs to the group known as "triad syndromes," which evolve with cognitive, motor and neuropsychiatric manifestations. Around 30% of patients debut with behavioral symptoms, which are a major challenge for management by patients, families, and caregivers. Huntington's disease (HD) is reviewed and a case of juvenile onset is reported in this article. The characteristics of juvenile-onset Huntington's disease (HD) differ from those of adult-onset HD, as chorea does not occur, although bradykinesia, dystonia, and signs of cerebellar disorder, such as rigidity, are present, frequently in association with convulsive episodes and psychotic manifestations.

  3. Genetics Home Reference: Huntington disease-like syndrome

    Science.gov (United States)

    ... 21915. Citation on PubMed Wild EJ, Tabrizi SJ. Huntington's disease phenocopy syndromes. Curr Opin Neurol. 2007 Dec;20(6):681-7. Review. Citation on PubMed Reviewed : August 2008 Published : August ...

  4. Episodic Memory Decline in Huntington's Disease, A Binding Deficit?

    NARCIS (Netherlands)

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

    2013-01-01

    Background: Huntington's disease (HD) is characterized by episodic memory deterioration. Objective: Our paper investigates the cognitive mechanisms that might underlie this decline. To this aim, we tested two executive hypotheses, the binding and the inhibition hypotheses. Methods: Fifteen HD patien

  5. Parcels and Land Ownership, Published in 2011, Huntington County Government.

    Data.gov (United States)

    NSGIC GIS Inventory (aka Ramona) — This Parcels and Land Ownership dataset as of 2011. The extent of these data is generally Huntington County, IN. This metadata was auto-generated through the Ramona...

  6. O paradigma de Huntington e o realismo político Huntington's paradigm and political realism

    Directory of Open Access Journals (Sweden)

    José R. Novaes Chiappin

    1994-12-01

    Full Text Available Examina-se a proposta de Huntington de um novo paradigma da política internacional (centrado na idéia de "civilizações" em substituição ao paradigma do realismo. Demonstra-se que se trata, na realidade, de um subparadigma do realismo e, portanto, a ele subordinado. Aplica-se isso à mudança da concepção estratégica de "contenção", que passa a aplicar-se às civilizações não-ocidentais e não mais ao expansionismo soviético.Huntington's proposal of a new paradigm for international politics (focused on the idea of "civilizations", meant to replace the paradigm of realism, is examined. It is shown that the proposed new paradigm should in fact be viewed as as sub-paradigm of the realist one. In particular, it is pointed out that Huntington's proposal, in a realist vein, draws on the idea of "containment", which is now directed (instead of its former target, the soviet expansionism to non-Western civilizations.

  7. Subtle changes among presymptomatic carriers of the Huntington's disease gene

    OpenAIRE

    S. Kirkwood; Siemers, E.; Hodes, M; Conneally, P; Christian, J.; Foroud, T

    2000-01-01

    OBJECTIVES—To compare the neurological and psychometric characteristics of presymptomatic gene carriers and non-gene carriers who are at risk for developing Huntington's disease so as to characterise early signs of disease and to identify markers of neurological function that could be used to assess the impact of experimental therapies on the progression of disease, even among those who are clinically presymptomatic.
METHODS—A sample of people at risk for Huntington's dis...

  8. Samuel Huntington, Clash of Civilizations: A Book Review

    OpenAIRE

    Yrd. Doç. Dr. Cengiz Kartýn

    2015-01-01

    Samuel Huntington's The Clash of Civilizations was written in 1993 by him. Study is a work containing the article and the responses to this article. Work is composed of two main parts. Makes the important point of this study is the process that began with the September 11 attacks by some strategists that is exactly the way towards a world where it is hidden in Huntington's fictionalized articulate.

  9. Linking SNPs to CAG repeat length in Huntington's disease patients.

    Science.gov (United States)

    Liu, Wanzhao; Kennington, Lori A; Rosas, H Diana; Hersch, Steven; Cha, Jang-Ho; Zamore, Phillip D; Aronin, Neil

    2008-11-01

    Allele-specific silencing using small interfering RNAs targeting heterozygous single-nucleotide polymorphisms (SNPs) is a promising therapy for human trinucleotide repeat diseases such as Huntington's disease. Linking SNP identities to the two HTT alleles, normal and disease-causing, is a prerequisite for allele-specific RNA interference. Here we describe a method, SNP linkage by circularization (SLiC), to identify linkage between CAG repeat length and nucleotide identity of heterozygous SNPs using Huntington's disease patient peripheral blood samples.

  10. Neuropathological diagnosis and CAG repeat expansion in Huntington's disease.

    OpenAIRE

    Xuereb, J H; MacMillan, J C; Snell, R; Davies, P.; Harper, P S

    1996-01-01

    OBJECTIVE--To correlate the degree of CAG repeat expansion with neuropathological findings in Huntington's disease. METHODS--The CAG repeat polymorphism was analysed in a large series of brain samples from 268 patients with a clinical diagnosis of Huntington's disease in which full neuropathological data was available. RESULTS--Analysis by polymerase chain reaction was successful in 63% of samples (169 of 268). Repeat expansions were detected in 152 of 153 (99%) samples with a neuropathologic...

  11. Levodopa responsive parkinsonism in an adult with Huntington's disease

    OpenAIRE

    Racette, B.; Perlmutter, J

    1998-01-01

    A patient is reported on with Huntington's disease who, as an adult, first developed severe parkinsonism with bradykinesia, rigidity, postural instability and festinating gait. His clinical signs were similar to those of the Westphal variant of Huntington's disease except that he also had resting tremor and a supranuclear gaze palsy. Magnetic resonance imaging showed caudate and putamen atrophy. Genetic analysis disclosed 49 triple CAG repeats in allele 1 and 17 in allele 2 ...

  12. 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...... eminences grown as free-floating roller-tube cultures can be successfully grafted in a rat Huntington model and that a clinical MR scanner offers a useful noninvasive tool for studying striatal graft development....

  13. [Olanzapine improves chorea in patients with Huntington's disease].

    Science.gov (United States)

    Jiménez-Jiménez, F J; de Toledo, M; Puertas, I; Barón, M; Zurdo, M; Barcenilla, B

    The main treatment for choreatic movements associated to Huntington s disease are the neuroleptic drugs, however, its use causes long term troubles. We describe two patients with a predominantly choreic Huntington s disease, who experience improvement of choreatic movements after introduction of olanzapine to their treatment, being this drug well tolerated. The improvement of chorea suggests that olanzapine has a dopaminergic D2 receptors blocking action.

  14. Geologic Map of the Greenaway Quadrangle (V-24), Venus

    Science.gov (United States)

    Lang, Nicholas P.; Hansen, Vicki L.

    2010-01-01

    The Greenaway quadrangle (V-24; lat 0 degrees -25 degrees N., long 120 degrees -150 degrees E.), Venus, derives its name from the impact crater Greenaway, centered at lat 22.9 degrees N., long 145.1 degrees E., in the northeastern part of the quadrangle. Greenaway was a well-noted writer and illustrator of children`s books in Britain during the nineteenth century. In Greenaway`s honor, the Library Association of Great Britain presents the annual Kate Greenaway Medal to an illustrator living and publishing in Britain who has produced the most distinguished children`s book illustrations for that year. The Greenaway quadrangle occupies an 8,400,000 km2 equatorial swath of lowlands and highlands. The map area is bounded by the crustal plateau, Thetis Regio, to the south and Gegute Tessera to the west. The rest of the quadrangle consists of part of Llorona Planitia, which is part of the vast lowlands that cover about 80 percent of Venus` surface. The southern map area marks the north edge of Aphrodite Terra, including Thetis Regio, that includes the highest topography in the quadrangle with elevations reaching >1 km above the Mean Planetary Radius (MPR; 6,051.84 km). Northern Aphrodite Terra abruptly slopes north to Llorona Planitia. A broad northeast-trending topographic arch pocked with coronae separates two northeast-trending elongate basins, Llorona Planitia on the east, that form depositional centers for shield and coronae-sourced materials; both basins drop to elevations of <-1 km. In addition to these major features, the map area hosts thousands of small volcanic constructs (shields); seven coronae; ribbon-tessera terrain; suites of faults, fractures, and wrinkle ridges; 23 impact craters; and one craterless splotch. Our goal for mapping the geology of the Greenaway quadrangle was to determine the geologic history for this region, which in turn provides insights into volcanic and tectonic processes that shaped the Venusian surface. Map relations illustrate that

  15. A case report of juvenile Huntington disease

    Directory of Open Access Journals (Sweden)

    Anita Choudhary

    2017-09-01

    Full Text Available Huntington disease (HD is a progressive neurodegenerative disorder, characterized by autosomal dominant inheritance, movement disorder, dementia, and behavioural disturbances. It is caused by a mutation in IT15 gene on chromosome 4p16.3, which leads to unstable CAG trinucleotide repeat expansion. The onset of juvenile HD occurs before the 2nd decade of life and comprises approximately 10% of total HD patients. Juvenile HD differs in symptomatology and is usually transmitted from paternal side with genetic anticipation phenomenon. Magnetic resonance imaging (MRI of the brain shows specific changes of early affection of caudate nucleus and putamen. Multidisciplinary approach with symptomatic treatment of specific symptoms is the current available management. Gene editing and gene silencing treatment are under trial. Hereby, we introduce a case of an 8-year-old boy, who presented with typical symptoms of juvenile HD, positive family history with genetic anticipation phenomenon and characteristic MRI findings.

  16. Plants and phytochemicals for Huntington's disease.

    Science.gov (United States)

    Choudhary, Sunayna; Kumar, Puneet; Malik, Jai

    2013-07-01

    Huntington's disease (HD) is a neurodegenerative disorder characterized by progressive motor dysfunction, including chorea and dystonia, emotional disturbances, memory, and weight loss. The medium spiny neurons of striatum and cortex are mainly effected in HD. Various hypotheses, including molecular genetics, oxidative stress, excitotoxicity, metabolic dysfunction, and mitochondrial impairment have been proposed to explain the pathogenesis of neuronal dysfunction and cell death. Despite no treatment is available to fully stop the progression of the disease, there are treatments available to help control the chorea. The present review deals with brief pathophysiology of the disease, plants and phytochemicals that have shown beneficial effects against HD like symptoms. The literature for the current review was collected using various databases such as Science direct, Pubmed, Scopus, Sci-finder, Google Scholar, and Cochrane database with a defined search strategy.

  17. The choreography of neuroinflammation in Huntington's disease.

    Science.gov (United States)

    Crotti, Andrea; Glass, Christopher K

    2015-06-01

    Currently, the concept of 'neuroinflammation' includes inflammation associated with neurodegenerative diseases, in which there is little or no infiltration of blood-derived immune cells into the brain. The roles of brain-resident and peripheral immune cells in these inflammatory settings are poorly understood, and it is unclear whether neuroinflammation results from immune reaction to neuronal dysfunction/degeneration, and/or represents cell-autonomous phenotypes of dysfunctional immune cells. Here, we review recent studies examining these questions in the context of Huntington's disease (HD), where mutant Huntingtin (HTT) is expressed in both neurons and glia. Insights into the cellular and molecular mechanisms underlying neuroinflammation in HD may provide a better understanding of inflammation in more complex neurodegenerative disorders, and of the contribution of the neuroinflammatory component to neurodegenerative disease pathogenesis.

  18. Huntington disease: DNA analysis in brazilian population

    Directory of Open Access Journals (Sweden)

    RASKIN SALMO

    2000-01-01

    Full Text Available Huntington disease (HD is associated with expansions of a CAG trinucleotide repeat in the HD gene. Accurate measurement of a specific CAG repeat sequence in the HD gene in 92 Brazilian controls without HD, 44 Brazilian subjects with clinical findings suggestive of HD and 40 individuals from 6 putative HD families, showed a range from 7 to 33 repeats in normal subjects and 39 to 88 repeats in affected subjects. A trend between early age at onset of first symptoms and increasing number of repeats was seen. Major increase of repeat size through paternal inheritance than through maternal inheritance was observed. Data generated from this study may have significant implications for the etiology, knowledge of the incidence, diagnosis, prognosis, genetic counseling and treatment of HD Brazilian patients.

  19. Huntington's Disease: Pathogenic Mechanisms and Therapeutic Targets.

    Science.gov (United States)

    Wright, Dean J; Renoir, Thibault; Gray, Laura J; Hannan, Anthony J

    2017-01-01

    Huntington's disease (HD) is a tandem repeat disorder involving neurodegeneration and a complex combination of symptoms. These include psychiatric symptoms, cognitive deficits culminating in dementia, and the movement disorder epitomised by motor signs such as chorea. HD is caused by a CAG repeat expansion encoding an extended tract of the amino acid glutamine in the huntingtin protein. This polyglutamine expansion appears to induce a 'change of function', possibly a 'gain of function', in the huntingtin protein, which leads to various molecular and cellular cascades of pathogenesis. In the current review, we will briefly describe these broader aspects of HD pathogenesis, but will then focus on specific aspects where there are substantial bodies of experimental evidence, including oxidative stress, mitochondrial dysfunction, glutamatergic dysfunction and neuroinflammation. Furthermore, we will review recent preclinical therapeutic approaches targeting some of these pathogenic pathways, their clinical implications and future directions.

  20. Huntington's Disease: Relationship Between Phenotype and Genotype.

    Science.gov (United States)

    Sun, Yi-Min; Zhang, Yan-Bin; Wu, Zhi-Ying

    2017-01-01

    Huntington's disease (HD) is an autosomal dominant inherited neurodegenerative disease with the typical manifestations of involuntary movements, psychiatric and behavior disorders, and cognitive impairment. It is caused by the dynamic mutation in CAG triplet repeat number in exon 1 of huntingtin (HTT) gene. The symptoms of HD especially the age at onset are related to the genetic characteristics, both the CAG triplet repeat and the modified factors. Here, we reviewed the recent advancement on the genotype-phenotype relationship of HD, mainly focus on the characteristics of different expanded CAG repeat number, genetic modifiers, and CCG repeat number in the 3' end of CAG triplet repeat and their effects on the phenotype. We also reviewed the special forms of HD (juvenile HD, atypical onset HD, and homozygous HD) and their phenotype-genotype correlations. The review will aid clinicians to predict the onset age and disease course of HD, give the genetic counseling, and accelerate research into the HD mechanism.

  1. Huntington's Disease: Calcium Dyshomeostasis and Pathology Models.

    Science.gov (United States)

    Kolobkova, Y A; Vigont, V A; Shalygin, A V; Kaznacheyeva, E V

    2017-01-01

    Huntington's disease (HD) is a severe inherited neurodegenerative disorder characterized by motor dysfunction, cognitive decline, and mental impairment. At the molecular level, HD is caused by a mutation in the first exon of the gene encoding the huntingtin protein. The mutation results in an expanded polyglutamine tract at the N-terminus of the huntingtin protein, causing the neurodegenerative pathology. Calcium dyshomeostasis is believed to be one of the main causes of the disease, which underlies the great interest in the problem among experts in molecular physiology. Recent studies have focused on the development of animal and insect HD models, as well as patient-specific induced pluripotent stem cells (HD-iPSCs), to simulate the disease's progression. Despite a sesquicentennial history of HD studies, the issues of diagnosis and manifestation of the disease have remained topical. The present review addresses these issues.

  2. Cerebrospinal Fluid Biomarkers for Huntington's Disease.

    Science.gov (United States)

    Byrne, Lauren M; Wild, Edward J

    2016-01-01

    Cerebrospinal fluid (CSF) is enriched in brain-derived components and represents an accessible and appealing means of interrogating the CNS milieu to study neurodegenerative diseases and identify biomarkers to facilitate the development of novel therapeutics. Many such CSF biomarkers have been proposed for Huntington's disease (HD) but none has been validated for clinical trial use. Across many studies proposing dozens of biomarker candidates, there is a notable lack of statistical power, consistency, rigor and validation. Here we review proposed CSF biomarkers including neurotransmitters, transglutaminase activity, kynurenine pathway metabolites, oxidative stress markers, inflammatory markers, neuroendocrine markers, protein markers of neuronal death, proteomic approaches and mutant huntingtin protein itself. We reflect on the need for large-scale, standardized CSF collections with detailed phenotypic data to validate and qualify much-needed CSF biomarkers for clinical trial use in HD.

  3. 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.

  4. Neuronal Ca(2+) dyshomeostasis in Huntington disease.

    Science.gov (United States)

    Giacomello, Marta; Oliveros, Juan C; Naranjo, Jose R; Carafoli, Ernesto

    2013-01-01

    The expansion of the N-terminal poly-glutamine tract of the huntingtin (Htt) protein is responsible for Huntington disease (HD). A large number of studies have explored the neuronal phenotype of HD, but the molecular aethiology of the disease is still very poorly understood. This has hampered the development of an appropriate therapeutical strategy to at least alleviate its symptoms. In this short review, we have focused our attention on the alteration of a specific cellular mechanism common to all HD models, either genetic or induced by treatment with 3-NPA, i.e. the cellular dyshomeostasis of Ca(2+). We have highlighted the direct and indirect (i.e. transcriptionally mediated) effects of mutated Htt on the maintenance of the intracellular Ca(2+) balance, the correct modulation of which is fundamental to cell survival and the disturbance of which plays a key role in the death of the cell.

  5. Geologic Map of Quadrangle 3262, Farah (421) and Hokumat-E-Pur-Chaman (422) Quadrangles, Afghanistan

    Science.gov (United States)

    Lidke, David J.

    2007-01-01

    This map was produced from several larger digital datasets. Topography was derived from Shuttle Radar Topography Mission (SRTM) 85-meter digital data. Gaps in the original dataset were filled with data digitized from contours on 1:200,000-scale Soviet General Staff Sheets (1978-1997). Contours were generated by cubic convolution averaged over four pixels using TNTmips surface-modeling capabilities. Cultural data were extracted from files downloaded from the Afghanistan Information Management Service (AIMS) Web site (http://www.aims.org.af). The AIMS files were originally derived from maps produced by the Afghanistan Geodesy and Cartography Head Office (AGCHO). Geologic data and the international boundary of Afghanistan were taken directly from Abdullah and Chmyriov (1977). It is the primary intent of the U.S. Geological Survey (USGS) to present the geologic data in a useful format while making them publicly available. These data represent the state of geologic mapping in Afghanistan as of 2005, although the original map was released in the late 1970s (Abdullah and Chmyriov, 1977). The USGS has made no attempt to modify original geologic map-unit boundaries and faults; however, modifications to map-unit symbology, and minor modifications to map-unit descriptions, have been made to clarify lithostratigraphy and to modernize terminology. The generation of a Correlation of Map Units (CMU) diagram required interpretation of the original data, because no CMU diagram was presented by Abdullah and Chmyriov (1977). This map is part of a series that includes a geologic map, a topographic map, a Landsat natural-color-image map, and a Landsat false-color-image map for the USGS/AGS (Afghan Geological Survey) quadrangles shown on the index map. The maps for any given quadrangle have the same open-file report (OFR) number but a different letter suffix, namely, -A, -B, -C, and -D for the geologic, topographic, Landsat natural-color, and Landsat false-color maps, respectively. The

  6. Geologic Map of the Weaverville 15' Quadrangle, Trinity County, California

    Science.gov (United States)

    Irwin, William P.

    2009-01-01

    The Weaverville 15' quadrangle spans parts of five generally north-northwest-trending accreted terranes. From east to west, these are the Eastern Klamath, Central Metamorphic, North Fork, Eastern Hayfork, and Western Hayfork terranes. The Eastern Klamath terrane was thrust westward over the Central Metamorphic terrane during early Paleozoic (Devonian?) time and, in Early Cretaceous time (approx. 136 Ma), was intruded along its length by the massive Shasta Bally batholith. Remnants of overlap assemblages of the Early Cretaceous (Hauterivian) Great Valley sequence and the Tertiary Weaverville Formation cover nearly 10 percent of the quadrangle. The base of the Eastern Klamath terrane in the Weaverville quadrangle is a peridotite-gabbro complex that probably is correlative to the Trinity ophiolite (Ordovician), which is widely exposed farther north beyond the quadrangle. In the northeast part of the Weaverville quadrangle, the peridotite-gabbro complex is overlain by the Devonian Copley Greenstone and the Mississippian Bragdon Formation. Where these formations were intruded by the Shasta Bally batholith, they formed an aureole of gneissic and other metamorphic rocks around the batholith. Westward thrusting of the Eastern Klamath terrane over an adjacent body of mafic volcanic and overlying quartzose sedimentary rocks during Devonian time formed the Salmon Hornblende Schist and the Abrams Mica Schist of the Central Metamorphic terrane. Substantial beds of limestone in the quartzose sedimentary unit, generally found near the underlying volcanic rock, are too metamorphosed for fossils to have survived. Rb-Sr analysis of the Abrams Mica Schist indicates a metamorphic age of approx. 380 Ma. West of Weavervillle, the Oregon Mountain outlier of the Eastern Klamath terrane consists mainly of Bragdon Formation(?) and is largely separated from the underlying Central Metamorphic terrane by serpentinized peridotite that may be a remnant of the Trinity ophiolite. The North Fork

  7. National Uranium Resource Evaluation: Ashton Quadrangle, Idaho, Montana, and Wyoming

    Energy Technology Data Exchange (ETDEWEB)

    Suekawa, H.S.; Merrick, D.; Clayton, J.; Rumba, S.

    1982-07-01

    The Ashton Quadrangle, Idaho, Montana, and Wyoming, was evaluated to identify and delineate areas containing environments favorable for uranium deposits, using criteria developed for the National Uranium Resource Evaluation program. General surface reconnaissance, radiometric traverses, and geochemical sampling were carried out in all geologic environments within the quadrangle. Aerial radiometric data were evaluated, and anomalies were examined in the field. Fourteen uranium occurrences were noted in the study area. Only one environment, the phosphorites of the Permian Phosphoria Formation, is considered favorable for uranium deposition. The unfavorable environments include: limestones, sandstones, coal and carbonaceous shales, volcanics, Precambrian metamorphics, and Tertiary basins. Unevaluated areas include the John D. Rockefeller Jr. Memorial Parkway and Yellowstone and Grand Teton National Parks, where park service regulations prohibit detailed investigations.

  8. Geological Mapping of the Lada Terra (V-56) Quadrangle, Venus

    Science.gov (United States)

    Kumar, P. Senthil; Head, James W., III

    2009-01-01

    Geological mapping of the V-56 quadrangle (Fig. 1) reveals various tectonic and volcanic features and processes in Lada Terra that consist of tesserae, regional extensional belts, coronae, volcanic plains and impact craters. This study aims to map the spatial distribution of different material units, deformational features or lineament patterns and impact crater materials. In addition, we also establish the relative age relationships (e.g., overlapping or cross-cutting relationship) between them, in order to reconstruct the geologic history. Basically, this quadrangle addresses how coronae evolved in association with regional extensional belts, in addition to evolution of tesserae, regional plains and impact craters, which are also significant geological units of Lada Terra.

  9. National uranium resource evaluation: Clifton Quadrangle, Arizona and New Mexico

    Energy Technology Data Exchange (ETDEWEB)

    White, D L; Foster, M

    1982-05-01

    The Clifton Quadrangle, Arizona and New Mexico, was evaluated to identify environments and delineate areas favorable for uranium deposits. The evaluation used criteria formulated for the National Uranium Resource Evaluation program. Evidence for the evaluation was based on surface studies, hydrogeochemical and stream-sediment reconnaissance, and aerial radiometric surveys. The quadrangle encompasses parts of three physiographic provinces: the Colorado Plateau, the transition zone, and the Basin and Range. The one environment determined, during the present study, to be favorable for uranium deposits is the Whitewater Creek member of the Cooney tuff, which is favorable for magmatic-hydrothermal uranium deposits on the west side of the Bursum caldera. No other areas were favorable for uranium deposits in sandstone, limestone, volcanogenic, igneous, or metamorphic environments. The subsurface is unevaluated because of lack of information, as are areas where access is a constraint.

  10. Digital geologic map of part of the Thompson Falls 1:100,000 quadrangle, Idaho

    Science.gov (United States)

    Lewis, Reed S.; Derkey, Pamela D.

    1999-01-01

    The geology of the Thompson Falls 1:100,000 quadrangle, Idaho was compiled by Reed S. Lewis in 1997 onto a 1:100,000-scale greenline mylar of the topographic base map for input into a geographic information system (GIS). The resulting digital geologic map GIS can be queried in many ways to produce a variety of geologic maps. Digital base map data files (topography, roads, towns, rivers and lakes, etc.) are not included: they may be obtained from a variety of commercial and government sources. This database is not meant to be used or displayed at any scale larger than 1:100,000 (e.g., 1:62,500 or 1:24,000). The map area is located in north Idaho. This open-file report describes the geologic map units, the methods used to convert the geologic map data into a digital format, the Arc/Info GIS file structures and relationships, and explains how to download the digital files from the U.S. Geological Survey public access World Wide Web site on the Internet.

  11. National Uranium Resource Evaluation: Torrington Quadrangle, Wyoming and Nebraska

    Energy Technology Data Exchange (ETDEWEB)

    Seeland, D

    1982-09-01

    The Torrington 1/sup 0/ x 2/sup 0/ Quadrangle in southeastern Wyoming and western Nebraska was evaluated to identify areas favorable for the occurrence of uranium deposits likely to contain 100 tons of uranium with an average grade of not less than 100 ppM (0.01 percent) U/sub 3/O/sub 8/. Almost all uranium occurrences reported in the literature were visited and sampled. Geochemical analyses of rock samples collected during the study were used in the evaluation. Hydrogeochemical and stream-sediment analyses were not available. Aerial-radiometric, and helium soil-gas surveys were analyzed. Much of the quadrangle is covered by Tertiary rocks. To assess the uranium potential of the Tertiary and pre-Tertiary rocks 270 well logs were studied and both contour and geologic maps made of the pre-Oligocene surface east and north of the Laramie Mountains. Five environments favorable for uranium deposits were outlined. The first is in the coarse-grained arkosic sandstone facies of the Wasatch Formation and the Lebo Member of the Fort Union Formation in the southern Powder River Basin. The second is in the Wind River Formation in the Shirley Basin, a stratigraphic and lithologic equivalent of the Wasatch. The third is the Lower Cretaceous Cloverly Formation in the northeastern part of the quadrangle. The fourth is in the Upper Cretaceous Lance (Laramie) Formation and the Fox Hills Sandstone in the southeastern corner of the quadrangle. The fifth favorable environment is in Precambrian rocks in the Laramie Mountains and Hartville uplift.

  12. National Uranium Resource Evaluation: Cortez quadrangle, Colorado and Utah

    Energy Technology Data Exchange (ETDEWEB)

    Campbell, J A

    1982-09-01

    Six stratigraphic units are recognized as favorable for the occurrence of uranium deposits that meet the minimum size and grade requirements of the U.S. Department of Energy in the Cortez 1/sup 0/ x 2/sup 0/ Quadrangle, Utah and Colorado. These units include the Jurassic Salt Wash, Recapture, and Brushy Basin Members of the Morrison Formation and the Entrada Sandstone, the Late Triassic Chinle Formation, and the Permian Cutler Formation. Four areas are judged favorable for the Morrison members which include the Slick Rock, Montezuma Canyon, Cottonwood Wash and Hatch districts. The criteria used to determine favorability include the presence of the following (1) fluvial sandstone beds deposited by low-energy streams; (2) actively moving major and minor structures such as the Paradox Basin and the many folds within it; (3) paleostream transport directions approximately perpendicular to the trend of many of the paleofolds; (4) presence of favorable gray lacustrine mudstone beds; and (5) known uranium occurrences associated with the favorable gray mudstones. Two areas of favorability are recognized for the Chinle Formation. These areas include the Abajo Mountain and Aneth-Ute Mountain areas. The criteria used to determine favorability include the sandstone-to-mudstone ratio for the Chinle Formation and the geographic distribution of the Petrified Forest Member of the Chinle Formation. Two favorable areas are recognized for the Cutler Formation. Both of these areas are along the northern border of the quadrangle between the Abajo Mountains and the Dolores River Canyon area. Two areas are judged favorable for the Entrada Sandstone. One area is in the northeast corner of the quadrangle in the Placerville district and the second is along the eastern border of the quadrangle on the southeast flank of the La Plata Mountains.

  13. Geologic map of the Palisade quadrangle, Mesa County, Colorado

    Science.gov (United States)

    Carrara, Paul E.

    2000-01-01

    The Palisade 1:24,000 quadrangle is in Mesa County in western Colorado. Because the map area is dominated by various surficial deposits, the map depicts 22 different Quaternary units. Two prominent river terraces are present in the quadrangle containing gravels deposited by the Colorado River. The map area contains many mass movement deposits. Extensive landslide deposits are present along the eastern part of the quadrangle. These massive landslides originate on the flanks of Grand Mesa, in the Green River and Wasatch Formations, and flow west onto the Palisade quadrangle. In addition, large areas of the eastern and southern parts of the map are covered by extensive pediment surfaces. These pediment surfaces are underlain by debris flow deposits also originating from Grand Mesa. Material in these deposits consists of mainly subangular basalt cobbles and boulders and indicate that these debris flow deposits have traveled as much as 10 km from their source area. The pediment surfaces have been divided into 5 age classes based on their height above surrounding drainages. Two common bedrock units in the map area are the Mancos Shale and the Mesaverde Group both of Upper Cretaceous age. The Mancos shale is common in low lying areas near the western map border. The Mesaverde Group forms prominent sandstone cliffs in the north-central map area. The map is accompanied by a separate pamphlet containing unit descriptions, a section on geologic hazards (including landslides, piping, gullying, expansive soils, and flooding), and a section on economic geology (including sand and gravel, and coal). A table indicates what map units are susceptible to a given hazard. Approximately twenty references are cited at the end of the report.

  14. Geologic Mapping of the Devana Chasma (V-29) Quadrangle, Venus

    Science.gov (United States)

    Tandberg, E. R.; Bleamaster, L. F., III

    2010-01-01

    The Devana Chasma quadrangle (V-29; 0-25degN/270-300degE) is situated over the northeastern apex of the Beta-Atla-Themis (BAT) province and includes the southern half of Beta Regio, the northern and transitional segments of the Devana Chasma complex, the northern reaches of Phoebe Regio, Hyndla Regio, and Nedolya Tesserae, and several smaller volcano-tectonic centers and impact craters.

  15. Geological Map of the Fredegonde (V-57) Quadrangle, Venus

    Science.gov (United States)

    Ivanov, M. A.; Head, J. W.

    2009-01-01

    The area of V-57, the Fredegonde quadrangle (50-75degS, 60-120degE, Fig.1), is located within the eastern portion of Lada Terra within the topographic province of midlands (0-2 km above MPR [1,2]). Midlands form the most abundant portion of the surface of Venus and are characterized by diverse sets of units and structures [3-11]. The area of the Fredegonde quadrangle is in contact with the elevated portion of Lada Terra to the W and with the lowland of Aino Planitia to the NE. The transitions of the mid-lands to the lowlands and highlands are, thus, one of the main themes of the geology within the V-57 quadrangle. The character of the transitions and distribution and sequence of units/structures in the midlands are crucially important in understanding the time and modes of formation of this topographic province. The most prominent features in the map area are linear deformational zones consisting of swarms of grooves and graben and large coronae. The zones characterize the central and NW portions of the map area and represent regionally important, broad (up to 100s km wide) ridges that are 100s m high. Relatively small (100s km across, 100s m deep) equidimensional basins occur between the corona-groove-chains in the west and border the central chain from the east. Here we describe units that make up the surface within the V-57 quadrangle and present a summary of our geological map that shows the areal distribution of the major groups of units.

  16. Geologic Map of the Carlton Quadrangle, Yamhill County, Oregon

    Science.gov (United States)

    Wheeler, Karen L.; Wells, Ray E.; Minervini, Joseph M.; Block, Jessica L.

    2009-01-01

    The Carlton, Oregon, 7.5-minute quadrangle is located in northwestern Oregon, about 35 miles (57 km) southwest of Portland. It encompasses the towns of Yamhill and Carlton in the northwestern Willamette Valley and extends into the eastern flank of the Oregon Coast Range. The Carlton quadrangle is one of several dozen quadrangles being mapped by the U.S. Geological Survey (USGS) and the Oregon Department of Geology and Mineral Industries (DOGAMI) to provide a framework for earthquake- hazard assessments in the greater Portland, Oregon, metropolitan area. The focus of USGS mapping is on the structural setting of the northern Willamette Valley and its relation to the Coast Range uplift. Mapping was done in collaboration with soil scientists from the National Resource Conservation Service, and the distribution of geologic units is refined over earlier regional mapping (Schlicker and Deacon, 1967). Geologic mapping was done on 7.5-minute topographic base maps and digitized in ArcGIS to produce ArcGIS geodatabases and PDFs of the map and text. The geologic contacts are based on numerous observations and samples collected in 2002 and 2003, National Resource Conservation Service soils maps, and interpretations of 7.5-minute topography. The map was completed before new, high-resolution laser terrain mapping was flown for parts of the northern Willamette Valley in 2008.

  17. Geologic Map of the Atlin Quadrangle, Southeastern Alaska

    Science.gov (United States)

    Brew, David A.; Himmelberg, Glen R.; Ford, Arthur B.

    2009-01-01

    This map presents the results of U.S. Geological Survey (USGS) geologic bedrock mapping studies in the mostly glacier covered Atlin 1:250,000-scale quadrangle, northern southeastern Alaska. These studies are part of a long-term systematic effort by the USGS to provide bedrock geologic and mineral-resource information for all of southeastern Alaska, covering all of the Tongass National Forest (including Wilderness Areas) and Glacier Bay National Park and Preserve. Some contributions to this effort are those concerned with southwesternmost part of the region, the Craig and Dixon Entrance quadrangles (Brew, 1994; 1996) and with the Wrangell-Petersburg area (Brew, 1997a-m; Brew and Grybeck, 1997; Brew and Koch, 1997). As shown on the index map (fig. 1), the study area is almost entirely in the northern Coast Mountains adjacent to British Columbia, Canada. No previous geologic map has been published for the area, although Brew and Ford (1985) included a small part of it in a preliminary compilation of the adjoining Juneau quadrangle; and Brew and others (1991a) showed the geology at 1:500,000 scale. Areas mapped nearby in British Columbia and the United States are also shown on figure 1. All of the map area is in the Coast Mountains Complex as defined by Brew and others (1995a). A comprehensive bibliography is available for this and adjacent areas (Brew, 1997n).

  18. Quantitative 7T phase imaging in premanifest Huntington disease.

    Science.gov (United States)

    Apple, A C; Possin, K L; Satris, G; Johnson, E; Lupo, J M; Jakary, A; Wong, K; Kelley, D A C; Kang, G A; Sha, S J; Kramer, J H; Geschwind, M D; Nelson, S J; Hess, C P

    2014-09-01

    In vivo MR imaging and postmortem neuropathologic studies have demonstrated elevated iron concentration and atrophy within the striatum of patients with Huntington disease, implicating neuronal loss and iron accumulation in the pathogenesis of this neurodegenerative disorder. We used 7T MR imaging to determine whether quantitative phase, a measurement that reflects both iron content and tissue microstructure, is altered in subjects with premanifest Huntington disease. Local field shift, calculated from 7T MR phase images, was quantified in 13 subjects with premanifest Huntington disease and 13 age- and sex-matched controls. All participants underwent 3T and 7T MR imaging, including volumetric T1 and 7T gradient recalled-echo sequences. Local field shift maps were created from 7T phase data and registered to caudate ROIs automatically parcellated from the 3T T1 images. Huntington disease-specific disease burden and neurocognitive and motor evaluations were also performed and compared with local field shift. Subjects with premanifest Huntington disease had smaller caudate volume and higher local field shift than controls. A significant correlation between these measurements was not detected, and prediction accuracy for disease state improved with inclusion of both variables. A positive correlation between local field shift and genetic disease burden was also found, and there was a trend toward significant correlations between local field shift and neurocognitive tests of working memory and executive function. Subjects with premanifest Huntington disease exhibit differences in 7T MR imaging phase within the caudate nuclei that correlate with genetic disease burden and trend with neurocognitive assessments. Ultra-high-field MR imaging of quantitative phase may be a useful approach for monitoring neurodegeneration in premanifest Huntington disease. © 2014 by American Journal of Neuroradiology.

  19. Placebo effect characteristics observed in a single, international, longitudinal study in Huntington's disease.

    NARCIS (Netherlands)

    Cubo, E.; Gonzalez, M.; Puerto, I. del; Yebenes, J.G. de; Arconada, O.F.; Gabriel y Galan, J.M.; Kremer, H.P.H.; Warrenburg, B.P.C. van de

    2012-01-01

    BACKGROUND: Classically, clinical trials are based on the placebo-control design. Our aim was to analyze the placebo effect in Huntington's disease. METHODS: Placebo data were obtained from an international, longitudinal, placebo-controlled trial for Huntington's disease (European Huntington's Disea

  20. 75 FR 33617 - Notice of Proposed Settlement Agreement and Opportunity for Public Comment: West Huntington Spill...

    Science.gov (United States)

    2010-06-14

    ... AGENCY Notice of Proposed Settlement Agreement and Opportunity for Public Comment: West Huntington Spill... United States Department of Justice on behalf of EPA, in connection with the West Huntington Spill Site, Huntington, West Virginia (``Site''). DATES: Written comments on the proposed settlement agreement must...

  1. Placebo effect characteristics observed in a single, international, longitudinal study in Huntington's disease.

    NARCIS (Netherlands)

    Cubo, E.; Gonzalez, M.; Puerto, I. del; Yebenes, J.G. de; Arconada, O.F.; Gabriel y Galan, J.M.; Kremer, H.P.H.; Warrenburg, B.P.C. van de

    2012-01-01

    BACKGROUND: Classically, clinical trials are based on the placebo-control design. Our aim was to analyze the placebo effect in Huntington's disease. METHODS: Placebo data were obtained from an international, longitudinal, placebo-controlled trial for Huntington's disease (European Huntington's

  2. 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...

  3. Huntington's disease: from molecular pathogenesis to clinical treatment.

    Science.gov (United States)

    Ross, Christopher A; Tabrizi, Sarah J

    2011-01-01

    Huntington's disease is a progressive, fatal, neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin gene, which encodes an abnormally long polyglutamine repeat in the huntingtin protein. Huntington's disease has served as a model for the study of other more common neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease. These disorders all share features including: delayed onset; selective neuronal vulnerability, despite widespread expression of disease-related proteins during the whole lifetime; abnormal protein processing and aggregation; and cellular toxic effects involving both cell autonomous and cell-cell interaction mechanisms. Pathogenic pathways of Huntington's disease are beginning to be unravelled, offering targets for treatments. Additionally, predictive genetic testing and findings of neuroimaging studies show that, as in some other neurodegenerative disorders, neurodegeneration in affected individuals begins many years before onset of diagnosable signs and symptoms of Huntington's disease, and it is accompanied by subtle cognitive, motor, and psychiatric changes (so-called prodromal disease). Thus, Huntington's disease is also emerging as a model for strategies to develop therapeutic interventions, not only to slow progression of manifest disease but also to delay, or ideally prevent, its onset.

  4. Investigational agents for the management of Huntington's disease.

    Science.gov (United States)

    Müller, Thomas

    2017-02-01

    An inherited, chronic progressive, neurodegenerative disorder is Huntington's disease, characterized by motor, cognitive, and psychiatric symptoms. Predictive genetic testing allows earlier diagnosis and identification of gene carriers for Huntington's disease. These individuals are ideal candidates for testing of therapeutic interventions for disease modification. Areas covered: According to queries in Pubmed, Embase and clinical register databases, research and clinical studies emerge on symptomatic and neuroprotective therapies in Huntington's disease. This review discusses novel agents for symptomatic therapy and disease modification. They are currently in phase I and II of drug development Expert opinion: There are promising, safe and well tolerated compounds for amelioration of motor and neuropsychiatric symptoms, but their efficacy still needs to be proven in clinical trials. Deterioration of mutant huntingtin expression, antiapoptotic or cell death inhibition as disease modifying concepts was efficacious in models of Huntington's disease. However, the risk for clinical trial failures is high not only due to ineffectiveness of the tested agent. Negative study outcomes may also result from design misconceptions, underestimation of the heterogeneity of Huntington's disease, too short study durations and too small study cohorts.

  5. Single sperm analysis of the trinucleotide repeat in the Huntington`s disease gene

    Energy Technology Data Exchange (ETDEWEB)

    Leeflang, E.P.; Zhang, L.; Hubert, R. [Univ. of Southern California, Los Angeles, CA (United States)] [and others

    1994-09-01

    Huntington`s disease (HD) is one of several genetic diseases caused by trinucleotide repeat expansion. The CAG repeat is very unstable, with size changes occurring in more than 80% of transmissions. The degree of instability of this repeat in the male germline can be determined by analysis of individual sperm cells. An easy and sensitive PCR assay has been developed to amplify this trinucleotide repeat region from single sperm using two rounds of PCR. As many as 90% of the single sperm show amplification for the HD repeat. The PCR product can be easily detected on an ethidium bromide-stained agarose gel. Single sperm samples from an HD patient with 18 and 49 repeats were studied. We observed size variations for the expanded alleles while the size of the normal allele in sperm is very consistent. We did not detect any significant bias in the amplification of normal alleles over the larger HD alleles. Our preliminary study supports the observation made by PCR of total sperm that instability of the HD trinucleotide repeat occurs in the germline. HD preimplantation diagnosis on single embryo blastomeres may also possible.

  6. 22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium.

    Science.gov (United States)

    Baig, Sheharyar S; Strong, Mark; Rosser, Elisabeth; Taverner, Nicola V; Glew, Ruth; Miedzybrodzka, Zosia; Clarke, Angus; Craufurd, David; Quarrell, Oliver W

    2016-10-01

    Huntington's disease (HD) is a progressive neurodegenerative condition. At-risk individuals have accessed predictive testing via direct mutation testing since 1993. The UK Huntington's Prediction Consortium has collected anonymised data on UK predictive tests, annually, from 1993 to 2014: 9407 predictive tests were performed across 23 UK centres. Where gender was recorded, 4077 participants were male (44.3%) and 5122 were female (55.7%). The median age of participants was 37 years. The most common reason for predictive testing was to reduce uncertainty (70.5%). Of the 8441 predictive tests on individuals at 50% prior risk, 4629 (54.8%) were reported as mutation negative and 3790 (44.9%) were mutation positive, with 22 (0.3%) in the database being uninterpretable. Using a prevalence figure of 12.3 × 10(-5), the cumulative uptake of predictive testing in the 50% at-risk UK population from 1994 to 2014 was estimated at 17.4% (95% CI: 16.9-18.0%). We present the largest study conducted on predictive testing in HD. Our findings indicate that the vast majority of individuals at risk of HD (>80%) have not undergone predictive testing. Future therapies in HD will likely target presymptomatic individuals; therefore, identifying the at-risk population whose gene status is unknown is of significant public health value.

  7. A study on the trinucleotide repeat associated with Huntington`s disease in the Chinese

    Energy Technology Data Exchange (ETDEWEB)

    Bing-wen Soong; Jih-tsuu Wang [Neurological Institute, Taipei (Taiwan, Province of China)

    1994-09-01

    Analysis of the polymorphic (CAG)n repeat in the hungingtin gene in the chinese confirmed the presence of an expanded repeat on all Huntington`s disease chromosomes. Measurement of the specific CAG repeat sequence in 34 HD chromosomes from 15 unrelated families and 190 control chromosomes from the Chinese population showed a range from 9 to 29 repeats in normal subjects and 40 to 58 in affected subjects. The size distributions of normal and affected alleles did not overlap. A clear correlation bewteen early onset of symptoms and very high repeat number was seen, but the spread of the age-at-onset in the major repeat range producing characteristic HD it too wide to be of diagnostic value. There was also variability in the transmitted repeat size for both sexes in the HD size range. Maternal HD alleles showed a moderate instability with a preponderance of size decrease, while paternal HD alleles had a tendency to increase in repeat size on transmission, the degree of which appeared proportional to the initial size.

  8. The Frequency of Huntington Disease and Huntington Disease-Like 2 in the South African Population.

    Science.gov (United States)

    Baine, Fiona K; Krause, Amanda; Greenberg, L Jacquie

    2016-01-01

    Huntington disease (HD) has most recently been estimated to affect between 10.6 and 13.7 per 100,000 individuals in European populations. However, prevalence is known to differ geographically. In South Africa, the only published estimates are from a survey performed in the 1970s, an era when the disease was believed to be rare or absent in black individuals and molecular confirmation was absent. The disease phenotype in South Africa is currently attributable to mutations in both the huntington and junctophilin-3 genes, which underlie the well-known HD and the rarer HD-like 2 (HDL2) respectively. This study aimed at providing improved minimum estimates of disease frequency in South Africa, based on molecular genetic testing data. A review of all testing records for HD and HDL2 over a 20-year period was undertaken. HDL2 is virtually indistinguishable on clinical features, thus necessitating its inclusion. Based on molecular diagnostic records, minimum estimates of disease frequency are: 5.1, 2.1 and 0.25 (per 100,000 individuals) for the white, mixed ancestry and black population groups respectively. Although ascertainment remains incomplete, these minimum estimates suggest that disease frequencies are significantly higher than those previously reported in South Africa. © 2016 S. Karger AG, Basel.

  9. Association of Huntington's disease and schizophrenia-like psychosis in a Huntington's disease pedigree

    Directory of Open Access Journals (Sweden)

    Guimarães João

    2006-02-01

    Full Text Available Abstract Background Huntington's disease (HD is a dominantly inherited, neurodegenerative disorder due to expansion of a polymorphic trinucleotide repeat in the short arm of chromosome 4. Clinical manifestations consist of a triad of choreic movements, cognitive decline and psychiatric syndromes starting in the fourth to fifth decade. Psychiatric manifestations vary and may precede motor and cognitive changes. Personality changes and depression occur most commonly. Paranoid schizophrenia-like symptoms occur in 6% to 25% of cases. Case report We describe a 55 year-old woman with an 8 yearlong history of behavioural changes, multi-thematic delusions and auditory hallucinations. History and mental state examination were suggestive of paranoid schizophrenia. Neurological examination revealed discrete, involuntary movements affecting her arms and trunk. Genotyping detected an expanded allele (43 trinucleotide repeats. A three-generation-long family history of chorea and schizophrenia-like psychosis was found. Conclusion HD-families have been reported in which schizophrenia-like syndromes emerged in all or most HD-affected members long before they developed extra-pyramidal or cognitive changes. This has been attributed to more than mere coincidence. We hypothesise that in these families the HD gene is transmitted along with a low load of small-effect "psychosis genes" which, in the presence of the severe cognitive changes of HD, manifest as a schizophrenia-like phenotype. Further research is needed in order to clarify the links between genetic loading and the emergence of psychotic symptoms in Huntington's disease.

  10. Exclusion testing in pregnancy for Huntington's disease.

    Science.gov (United States)

    Tyler, A; Quarrell, O W; Lazarou, L P; Meredith, A L; Harper, P S

    1990-01-01

    The results of DNA analysis are presented for a series of 90 couples, with one partner at 50% risk for Huntington's disease (HD), who were referred for exclusion testing in pregnancy over a three year period. Thirty-seven couples were studied in detail. The aims of the study were to evaluate attitudes towards prenatal testing, before pregnancy and afterwards, and the effectiveness of our counseling and methods of organising the service. Problems which could arise in relation to presymptomatic testing are documented. It is concluded that exclusion testing is a valuable form of prediction for some couples, particularly where family structure does not permit prediction for the person at risk. The need for intensive counselling was highlighted by the difficulties experienced by many couples in understanding how the test worked. Particular ethical and organisational problems may arise which require careful consideration beforehand and some recommendations are made. The proportion of couples who will continue to request exclusion testing as pre-symptomatic testing becomes more widely applicable remains unknown. PMID:2145437

  11. Cell-based technologies for Huntington's disease

    Directory of Open Access Journals (Sweden)

    Mônica Santoro Haddad

    Full Text Available ABSTRACT Huntington's disease (HD is a fatal genetic disorder, which causes the progressive breakdown of neurons in the human brain. HD deteriorates human physical and mental abilities over time and has no cure. Stem cell-based technologies are promising novel treatments, and in HD, they aim to replace lost neurons and/or to prevent neural cell death. Herein we discuss the use of human fetal tissue (hFT, neural stem cells (NSCs of hFT origin or embryonic stem cells (ESCs and induced pluripotent stem cells (IPSCs, in clinical and pre-clinical studies. The in vivo use of mesenchymal stem cells (MSCs, which are derived from non-neural tissues, will also be discussed. All these studies prove the potential of stem cells for transplantation therapy in HD, demonstrating cell grafting and the ability to differentiate into mature neurons, resulting in behavioral improvements. We claim that there are still many problems to overcome before these technologies become available for HD patient treatment, such as: a safety regarding the use of NSCs and pluripotent stem cells, which are potentially teratogenic; b safety regarding the transplantation procedure itself, which represents a risk and needs to be better studied; and finally c technical and ethical issues regarding cells of fetal and embryonic origin.

  12. Comprehension of prosody in Huntington's disease.

    Science.gov (United States)

    Speedie, L J; Brake, N; Folstein, S E; Bowers, D; Heilman, K M

    1990-07-01

    Patients with Huntington's Disease (HD) who were without dementia were compared to unilateral stroke patients and controls as previously reported in 1983, to discover if they had a prosodic defect. Subjects were presented tape-recorded speech filtered sentences and asked to indicate the tone of voice as happy, sad or angry (affective prosody), or as a question, command or statement (propositional prosody). HD patients were impaired in comprehension of both types of prosody compared to controls but were not different from stroke patients. A second study compared early HD patients with at-risk siblings and spouse controls on comprehension of affective and propositional prosody, discrimination of both types of prosody, rhythm discrimination and tonal memory (Seashore tests). HD patients were impaired in both comprehension and discrimination of all types of prosody. HD patients were less accurate than at-risk patients on the tonal memory task but not on the rhythm discrimination task. These findings suggest compromise in ability to understand the more subtle prosodic aspects of communication which may contribute to social impairment of HD patients very early in the course of the disease.

  13. Hypothalamic-endocrine aspects in Huntington's disease.

    Science.gov (United States)

    Petersén, Asa; Björkqvist, Maria

    2006-08-01

    Huntington's disease (HD) is a hereditary and fatal disorder caused by an expanded CAG triplet repeat in the HD gene, resulting in a mutant form of the protein huntingtin. Wild-type and mutant huntingtin are expressed in most tissues of the body but the normal function of huntingtin is not fully known. In HD, the neuropathology is characterized by intranuclear and cytoplasmic inclusions of huntingtin aggregates, and cell death primarily in striatum and cerebral cortex. However, hypothalamic atrophy occurs at early stages of HD with loss of orexin- and somatostatin-containing cell populations. Several symptoms of HD such as sleep disturbances, alterations in circadian rhythm, and weight loss may be due to hypothalamic dysfunction. Endocrine changes including increased cortisol levels, reduced testosterone levels and increased prevalence of diabetes are found in HD patients. In HD mice, alterations in the hypothalamic-pituitary-adrenal axis occurs as well as pancreatic beta-cell and adipocyte dysfunction. Increasing evidence points towards important pathology of the hypothalamus and the endocrine system in HD. As many neuroendocrine factors are secreted into the cerebrospinal fluid, blood and urine, it is possible that their levels may reflect the disease state in the central nervous system. Investigating neuroendocrine changes in HD opens up the possibility of finding biomarkers to evaluate future therapies for HD, as well as of identifying novel targets for therapeutic interventions.

  14. DNA instability in replicating Huntington's disease lymphoblasts

    Directory of Open Access Journals (Sweden)

    Frati Luigi

    2009-02-01

    Full Text Available Abstract Background The expanded CAG repeat in the Huntington's disease (HD gene may display tissue-specific variability (e.g. triplet mosaicism in repeat length, the longest mutations involving mitotic (germ and glial cells and postmitotic (neurons cells. What contributes to the triplet mutability underlying the development of HD nevertheless remains unknown. We investigated whether, besides the increased DNA instability documented in postmitotic neurons, possible environmental and genetic mechanisms, related to cell replication, may concur to determine CAG repeat mutability. To test this hypothesis we used, as a model, cultured HD patients' lymphoblasts with various CAG repeat lengths. Results Although most lymphoblastoid cell lines (88% showed little or no repeat instability even after six or more months culture, in lymphoblasts with large expansion repeats beyond 60 CAG repeats the mutation size and triplet mosaicism always increased during replication, implying that the repeat mutability for highly expanded mutations may quantitatively depend on the triplet expansion size. None of the investigated genetic factors, potentially acting in cis to the mutation, significantly influence the repeat changes. Finally, in our experiments certain drugs controlled triplet expansion in two prone-to-expand HD cell lines carrying large CAG mutations. Conclusion Our data support quantitative evidence that the inherited CAG length of expanded alleles has a major influence on somatic repeat variation. The longest triplet expansions show wide somatic variations and may offer a mechanistic model to study triplet drug-controlled instability and genetic factors influencing it.

  15. Genetic diagnosis of Huntington's disease: cases report

    Institute of Scientific and Technical Information of China (English)

    Liao Ting-ting; Wu Wei; Wan Qi; Cui Yu-gui; Liu Jia-yin

    2011-01-01

    Objective:To assess the efficiency of the PCR combined DNA sequencing to ascertain CAG repeat size of Huntington's disease(HD)gene as for gene diagnosis of HD.Method:Three patients with HD were diagnosed genetically with the technology of polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis by assessing the CAG repeat size of HD gene.DNA sequencing then was used as verification test for HD gene.Results:Nine members of three nuclear families were included in this study,three patients were HD proband.In those families,CAG repeats of all spouse of propositus were in normal range.CAG repeats of all propositus and their descendants with the normal allele were in normal range,while CAG copy number of the other mobigenous allele was obviously abnormal.Conclusion:PCR combined DNA sequencing can be used to effectively ascertain CAG repeat of HD gene.CAG-repeat expansion mutations were accounted for 99% of HD cases,so HD can be accurately diagnosed by this method.

  16. Genetic Testing for Huntington's Disease in Parkinsonism.

    Science.gov (United States)

    Rahman, M S; Nagai, Y; Popiel, H A; Fujikake, N; Okamoto, Y; Ahmed, M U; Islam, M A; Islam, M T; Ahmed, S; Rahman, K M; Uddin, M J; Dey, S K; Ahmed, Q; Hossain, M A; Jahan, N; Toda, T

    2010-10-01

    The study was conducted to find out Huntington's disease (HD) by genetic analysis from those presenting with parkinsonism in the Neurology department of Mymensingh Medical College & Hospital. A sample of about 5ml blood was collected by veni puncture in EDTA tube with informed consent from 9 patients & 7 healthy individuals after approval of the institutional ethics committee for genetic study. The neurological disorder along with a complete history and physical findings were recorded in a prescribed questionnaire by the neurologists of Mymensingh Medical College & Hospital. Extraction of genomic DNA from the venous blood using FlexiGene DNA kit (Qiagen, Japan) was performed in Faculty of Veterinary Science, Bangladesh Agricultural University, Mymensingh, Bangladesh. The extracted DNA was stored and accumulated and then these DNA were sent to Division of Clinical Genetics, Department of Medical Genetics, Osaka University Medical School, Suita, Osaka 565 0871, Japan for PCR and further analysis. PCR amplification of the CAG repeat in the 1T15 gene was performed with primers HD1 and HD3. HD PCR products revealed the DNA product of about 110bp (no. of CAG repeats=21) to 150bp (no. of CAG repeats=34) in both healthy individual and suspected PD patient DNA.

  17. Pridopidine for the treatment of Huntington's disease.

    Science.gov (United States)

    Shannon, Kathleen M

    2016-01-01

    Huntington's disease is a rare dominantly-inherited neurodegenerative disease with motor, cognitive and behavioral manifestations. It results from an expanded unstable trinucleotide repeat in the coding region of the huntingtin gene. Treatment is symptomatic, but a poor evidence baseguides selection of therapeutic agents. Non-choreic derangements in voluntary movement contribute to overall motor disability and are poorly addressed by current therapies. Pridopidine is a novel agent in the dopidine class believed to have 'state dependent' effects at dopamine receptors, thus show promise in the treatment of these disorders of voluntary movement. This review discusses the pharmacokinetics and pharmacodynamics of pridopidine and reviews clinical trials supporting development of the drug for HD. This information was culled from literature searches for dopidines, pridopidine, and HD experimental therapeutics in PubMed and at http://www.clinicaltrials.org . There is a compelling need to discover new treatments for motor disability in HD, particularly for non-choreic motor symptoms. While pridopidine failed to achieve its primary efficacy outcomes in 2 large trials, reproducible effects on secondary motor outcomes have fueled an ongoing trial studying higher doses and more focused clinical endpoints. This and phase III trials will define define the utility of pridopidine for HD.

  18. Lessons Learned from the Transgenic Huntington's Disease Rats

    Directory of Open Access Journals (Sweden)

    Rinske Vlamings

    2012-01-01

    Full Text Available Huntington's disease (HD is a fatal inherited disorder leading to selective neurodegeneration and neuropsychiatric symptoms. Currently, there is no treatment to slow down or to stop the disease. There is also no therapy to effectively reduce the symptoms. In the investigation of novel therapies, different animal models of Huntington's disease, varying from insects to nonhuman primates, have been created and used. Few years ago, the first transgenic rat model of HD, carrying a truncated huntingtin cDNA fragment with 51 CAG repeats under control of the native rat huntingtin promoter, was introduced. We have been using this animal model in our research and review here our experience with the behavioural, neurophysiological, and histopathological phenotype of the transgenic Huntington's disease rats with relevant literature.

  19. Variation within the Huntington's disease gene influences normal brain structure.

    Directory of Open Access Journals (Sweden)

    Mark Mühlau

    Full Text Available Genetics of the variability of normal and diseased brain structure largely remains to be elucidated. Expansions of certain trinucleotide repeats cause neurodegenerative disorders of which Huntington's disease constitutes the most common example. Here, we test the hypothesis that variation within the IT15 gene on chromosome 4, whose expansion causes Huntington's disease, influences normal human brain structure. In 278 normal subjects, we determined CAG repeat length within the IT15 gene on chromosome 4 and analyzed high-resolution T1-weighted magnetic resonance images by the use of voxel-based morphometry. We found an increase of GM with increasing long CAG repeat and its interaction with age within the pallidum, which is involved in Huntington's disease. Our study demonstrates that a certain trinucleotide repeat influences normal brain structure in humans. This result may have important implications for the understanding of both the healthy and diseased brain.

  20. Perfect Octagon Quadrangle Systems with an upper C4-system and a large spectrum

    Directory of Open Access Journals (Sweden)

    Luigia Berardi

    2011-02-01

    Full Text Available An octagon quadrangle is the graph consisting of an 8-cycle (x1, x2,..., x8 with two additional chords: the edges {x1, x4} and {x5, x8}. An octagon quadrangle system of order ν and index λ [OQS] is a pair (X,H, where X is a finite set of ν vertices and H is a collection of edge disjoint octagon quadrangles (called blocks which partition the edge set of λKν defined on X. An octagon quadrangle system Σ=(X,H of order ν and index λ is said to be upper C4-perfect if the collection of all of the upper 4-cycles contained in the octagon quadrangles form a μ-fold 4-cycle system of order ν; it is said to be upper strongly perfect, if the collection of all of the upper 4-cycles contained in the octagon quadrangles form a μ-fold 4-cycle system of order ν and also the collection of all of the outside 8-cycles contained in the octagon quadrangles form a ρ-fold 8-cycle system of order ν. In this paper, the authors determine the spectrum for these systems, in the case that it is the largest possible.

  1. Compositional variations on Mercury: Results from the Victoria quadrangle

    Science.gov (United States)

    Zambon, Francesca; Carli, Cristian; Galluzzi, Valentina; Capaccioni, Fabrizio; Giacomini, Lorenza; Massironi, Matteo; Palumbo, Pasquale; Cremonese, Gabriele

    2017-04-01

    Mercury was recently explored by the MESSENGER mission that orbited around the planet from March 2011 until April 2015 allowing a complete coverage of its surface. The Mercury Dual Imaging System (MDIS), mapped the Hermean surface at different spatial resolutions, due to variable altitude of the spacecraft from the surface. MDIS consists of two instruments: a Narrow Angle Camera (NAC) centered at 747nm, which acquired high-resolution images for the geological analysis, and the Wide Angle Camera (WAC), provided with 11 filters dedicated to the compositional analysis, operating in a range of wavelengths between 395 and 1040 nm. Mercury's surface has been divided into 15 quadrangles for mapping purposes. Here, we analyze the results obtained by the color composite mosaic of the quadrangle Victoria (H02) located at longitudes 270 ° - 360 ° E, and latitudes 22.5 ° N - 65 ° N. We produced a color mosaic, by using the images relative to the filters with the best spatial coverage. To obtain the 8-color mosaic of the Victoria quadrangle, we calibrated and georefenced the WAC raw images. Afterwards, we applied the Hapke photometric correction by using the parameters derived by Domingue et al. (2015). We projected and coregistered the data, and finally, we produced the mosaic. To analyze the compositional variations of the Victoria quadrangle, we consider different techniques of analysis, such as specific RGB color combinations and band ratios, which emphasize the different compositional characteristics of the surface. Furthermore, the use of clustering and classification methods allows for recognizing various terrain units, in terms of reflectance and spectral characteristics. In the H02 quadrangle, we observed a dichotomy in the RGB mosaic (R: second principal component (PC2), G: first principal component (PC1), B: 430/1000 nm; see Denevi et al. 2009) between the northern region of the quadrangle, dominated by smooth plains, and the southern part, characterized by

  2. Geologic map of the Lakshmi Planum quadrangle (V-7), Venus

    Science.gov (United States)

    Ivanov, Mikhail A.; Head, James W.

    2010-01-01

    The Lakshmi Planum quadrangle is in the northern hemisphere of Venus and extends from lat 50 degrees to 75 degrees N., and from long 300 degrees to 360 degrees E. The elevated volcanic plateau of Lakshmi Planum, which represents a very specific and unique class of highlands on Venus, dominates the northern half of the quadrangle. The surface of the planum stands 3-4 km above mean planetary radius and the plateau is surrounded by the highest Venusian mountain ranges, 7-10 km high. Before the Magellan mission, the geology of the Lakshmi Planum quadrangle was known on the basis of topographic data acquired by the Pioneer-Venus and Venera-15/16 altimeter and radar images received by the Arecibo telescope and Venera-15/16 spacecraft. These data showed unique topographic and morphologic structures of the mountain belts, which have no counterparts elsewhere on Venus, and the interior volcanic plateau with two large and low volcanic centers and large blocks of tessera-like terrain. From the outside, Lakshmi Planum is outlined by a zone of complexly deformed terrains that occur on the regional outer slope of Lakshmi. Vast low-lying plains surround this zone. After acquisition of the Venera-15/16 data, two classes of hypotheses were formulated to explain the unique structure of Lakshmi Planum and its surrounding. The first proposed that the western portion of Ishtar Terra, dominated by Lakshmi Planum, was a site of large-scale upwelling while the alternative hypothesis considered this region as a site of large-scale downwelling and underthrusting. Early Magellan results showed important details of the general geology of this area displayed in the Venera-15/16 images. Swarms of extensional structures and massifs of tesserae populate the southern slope of Lakshmi. The zone of fractures and grabens form a giant arc thousands of kilometers long and hundreds of kilometers wide around the southern flank of Lakshmi Planum. From the north, the deformational zones consist mostly of

  3. Geologic map of the Rusalka Planitia Quadrangle (V-25), Venus

    Science.gov (United States)

    Young, Duncan A.; Hansen, Vicki L.

    2003-01-01

    The Rusalka Planitia quadrangle (herein referred to as V-25) occupies an 8.1 million square kilometer swath of lowlands nestled within the eastern highlands of Aphrodite Terra on Venus. The region (25?-0? N., 150?-180? E.) is framed by the crustal plateau Thetis Regio to the southwest, the coronae of the Diana-Dali chasmata complex to the south, and volcanic rise Atla Regio to the west. Regions to the north, and the quadrangle itself, are part of the vast lowlands, which cover four-fifths of the surface of Venus. The often-unspectacular lowlands of Venus are typically lumped together as ridged or regional plains. However, detailed mapping reveals the mode of resurfacing in V-25's lowlands: a mix of corona-related flow fields and local edifice clusters within planitia superimposed on a background of less clearly interpretable extended flow fields, large volcanoes, probable corona fragments, and edifice-flow complexes. The history detailed within the Rusalka Planitia quadrangle is that of the extended evolution of long-wavelength topographic basins in the presence of episodes of extensive corona-related volcanism, pervasive low-intensity small-scale eruptions, and an early phase of regional circumferential shortening centered on central Aphrodite Terra. Structural reactivation both obscures and illuminates the tectonic development of the region. The data are consistent with progressive lithospheric thickening, although the critical lack of an independent temporal marker on Venus severely hampers our ability to test this claim and correlate between localities. Two broad circular basins dominate V-25 geology: northern Rusalka Planitia lies in the southern half of the quadrangle, whereas the smaller Llorona Planitia sits along the northwestern corner of V-25. Similar large topographic basins occur throughout the lowlands of Venus, and gravity data suggest that some basins may represent dynamic topography over mantle downwellings. Both planitiae include coronae and

  4. Geologic Map of the Niobe Planitia Quadrangle (V-23), Venus

    Science.gov (United States)

    Hansen, Vicki L.

    2009-01-01

    The Niobe Planitia quadrangle (V-23) encompasses approximately 8,000,000 km2 of the Venusian equatorial region extending from lat 0 deg to 25 deg N. and from long 90 deg to 120 deg E. (approximately 9,500 15-minute quadrangles on Earth). The map area lies along the north margin of the equatorial highland, Aphrodite Terra (V-35), and extends into the lowland region to the north, preserving a transition from southern highlands to northern lowlands (figs. 1, 2, map sheet). The northern parts of the crustal plateau, Ovda Regio and Haasttse-baad Tessera, mark the south margin of the map area; Niobe and Sogolon Planitiae make up the lowland region. The division between Niobe and Sogolon Planitiae is generally topographic, and Sogolon Planitia forms a relatively small elongate basin. Mesolands, the intermediate topographic level of Venus, are essentially absent or represented only by Gegute Tessera, which forms a slightly elevated region that separates Niobe Planitia from Llorona Planitia to the east (V-24). Lowlands within the map area host five features currently classified as coronae: Maya Corona (lat 23 deg N., long 97 deg E.) resides to the northwest and Dhisana, Allatu, Omeciuatl, and Bhumiya Coronae cluster loosely in the east-central area. Lowlands extend north, east, and west of the map area. Mapping the Niobe Planitia quadrangle (V-23) provides an excellent opportunity to examine a large tract of lowlands and the adjacent highlands with the express goal of clarifying the processes responsible for resurfacing this part of Venus and the resulting implications for Venus evolution. Although Venus lowlands are widely considered to have a volcanic origin, lowlands in the map area lack adjacent coronae or other obvious volcanic sources.

  5. Geologic map of the Murray Quadrangle, Newton County, Arkansas

    Science.gov (United States)

    Hudson, Mark R.; Turner, Kenzie J.

    2016-07-06

    This map summarizes the geology of the Murray quadrangle in the Ozark Plateaus region of northern Arkansas. Geologically, the area is on the southern flank of the Ozark dome, an uplift that has the oldest rocks exposed at its center, in Missouri. Physiographically, the Murray quadrangle is within the Boston Mountains, a high plateau region underlain by Pennsylvanian sandstones and shales. Valleys of the Buffalo River and Little Buffalo River and their tributaries expose an approximately 1,600-ft-thick (488-meter-thick) sequence of Ordovician, Mississippian, and Pennsylvanian carbonate and clastic sedimentary rocks that have been mildly deformed by a series of faults and folds. The Buffalo National River, a park that encompasses the Buffalo River and adjacent land that is administered by the National Park Service is present at the northwestern edge of the quadrangle.Mapping for this study was carried out by field inspection of numerous sites and was compiled as a 1:24,000 geographic information system (GIS) database. Locations and elevation of sites were determined with the aid of a global positioning satellite receiver and a hand-held barometric altimeter that was frequently recalibrated at points of known elevation. Hill-shade relief and slope maps derived from a U.S. Geological Survey 10-meter digital elevation model as well as orthophotographs were used to help trace ledge-forming units between field traverses within the Upper Mississippian and Pennsylvanian part of the stratigraphic sequence. Strike and dip of beds were typically measured along stream drainages or at well-exposed ledges. Structure contours, constructed on the top of the Boone Formation and the base of a prominent sandstone unit within the Bloyd Formation, were drawn based on the elevations of field sites on these contacts well as other limiting information for their minimum elevations above hilltops or their maximum elevations below valley bottoms.

  6. Geology of the Cooper Ridge NE Quadrangle, Sweetwater County, Wyoming

    Science.gov (United States)

    Roehler, Henry W.

    1979-01-01

    The Cooper Ridge NE 7?-minute quadrangle is 18 miles southeast of Rock Springs, Wyo., on the east flank of the Rock Springs uplift. Upper Cretaceous rocks composing the Rock Springs Formation, Ericson Sandstone, Almond Formation, Lewis Shale, Fox Hills Sandstone, and Lance Formation, Paleocene rocks composing the Fort Union Formation, and Eocene rocks composing the Wasatch Formation are exposed and dip 5?-8? southeast. Outcrops are unfaulted and generally homoclinal, but a minor cross-trending fold, the Jackknife Spring anticline, plunges southeastward and interrupts the northeast strike of beds. Older rocks in the subsurface are faulted and folded, especially near the Brady oil and gas field. Coal beds are present in the Almond, Lance, and Fort Union Formations. Coal resources are estimated to be more than 762 million short tons in 16 beds more than 2.5 feet thick, under less than 3,000 ft of overburden. Nearly 166 million tons are under less than 200 ft of overburden and are recoverable by strip mining. Unknown quantities of oil and gas are present in the Cretaceous Rock Springs, Blair, and Dakota Formations, Jurassic sandstone (Entrada Sandstone of drillers), Jurassic(?) and Triassic(?) Nugget Sandstone, Permian Park City Formation, and Pennsylvanian and Permian Weber Sandstone at the Brady field, part of which is in the southeast corner of the quadrangle, and in the Dakota Sandstone at the Prenalta Corp. Bluewater 33-32 well near the northern edge of the quadrangle. Other minerals include uranium in the Almond Formation and titanium in the Rock Springs Formation.

  7. Mercury: Photomosaic of the Shakespeare Quadrangle (Northern Half) H-3

    Science.gov (United States)

    1974-01-01

    This computer generated photomosaic from Mariner 10 is of the northern half of Mercury's Shakespeare Quadrangle, named for the ancient Shakespeare crater located on the lower edge to the left of center. This portion of the quadrangle covers the geographic region from 45 to 70 degrees north latitude and from 90 to 180 degrees longitude. The photomosaic was produced using computer techniques and software developed in the Image Processing Laboratory of NASA's Jet Propulsion Laboratory. The pictures have been high-pass filtered and contrast enhanced to accentuate surface detail, and geometrically transformed into a Lambert conformal projection.The illuminated surface observed by Mariner 10 as it first approached Mercury is dominated by craters and basins. In marked contrast to this view, the surface photographed after the flyby exhibited features totally different, including large basins and extensive relatively smooth areas with few craters. The most striking feature in this region of the planet is a huge circular basin, 1300 kilometers in diameter, that was undoubtedly produced from a tremendous impact comparable to the event that formed the Imbrium basin on the Moon. This prominent Mercurian structure in the Shakespeare and Tolstoj quadrangles (lower left corner of this image), named Caloris Planitia, is filled with material forming a smooth surface or plain that appears similar in many respects to the lunar maria.The above material was taken from the following publication... Davies, M. E., S. E. Dwornik, D. E. Gault, and R. G. Strom, Atlas of Mercury, NASA SP-423 (1978).The Mariner 10 mission was managed by the Jet Propulsion Laboratory for NASA's Office of Space Science.

  8. Reconnaissance geology of the Zarghat Quadrangle, sheet 26/40 B, Kingdom of Saudi Arabia

    Science.gov (United States)

    Quick, J.E.

    1984-01-01

    The Zarghat quadrangle is located in the northern Precambrian shield of Saudi Arabia between lat 26°30' and 27°00' N. and long 41°00' and 41°30 ' E. The area is underlain by three Precambrian volcanosedimentary units and a range of Precambrian dioritoid and granitoid plutonic intrusive rocks. Paleozoic(?) sandstone crops out in small areas in the northwestern part of the quadrangle, and a lobe of QuaternaryC?) basalt from Harrat Ithnain penetrates the southwest corner of the quadrangle.

  9. Geologic Map of the Poverty Bay 7.5' quadrangle, King and Pierce counties, Washington

    Science.gov (United States)

    Booth, Derek B.; Waldron, H.H.; Troost, K.G.

    2004-01-01

    The Poverty Bay quadrangle lies near the center of the region?s intensively developing urban core. Less than 20 km north lies the city of Seattle; downtown Tacoma lies just southwest of the quadrangle. The map area expresses much of the tremendous range of Quaternary environments and deposits found throughout the central Puget Lowland. Much of the ground surface is mantled by a rolling surface of glacial till deposited during the last occupation of the Puget Lowland by a great continental ice sheet about 14,000 years ago. A complex sequence of older unconsolidated sediments extends far below sea level across most of the quadrangle, with no bedrock exposures at all.

  10. Land use mapping and modelling for the Phoenix Quadrangle

    Science.gov (United States)

    Place, J. L. (Principal Investigator)

    1974-01-01

    The author has identified the following significant results. The mapping of generalized land use (level 1) from ERTS 1 images was shown to be feasible with better than 95% accuracy in the Phoenix quadrangle. The accuracy of level 2 mapping in urban areas is still a problem. Updating existing maps also proved to be feasible, especially in water categories and agricultural uses; however, expanding urban growth has presented with accuracy. ERTS 1 film images indicated where areas of change were occurring, thus aiding focusing-in for more detailed investigation. ERTS color composite transparencies provided a cost effective source of information for land use mapping of very large regions at small map scales.

  11. Stream-sediment samples reanalyzed for major, rare earth, and trace elements from seven 1:250,000-scale quadrangles, south-central Alaska, 2007-09

    Science.gov (United States)

    Gamble, Bruce M.; Bailey, Elizabeth A.; Shew, Nora B.; Labay, Keith A.; Schmidt, Jeanine M.; O'Leary, Richard M.; Detra, David E.

    2010-01-01

    During the 1960s through the 1980s, the U.S. Geological Survey conducted reconnaissance geochemical surveys of drainage basins throughout most of the Iliamna, Lake Clark, Lime Hills, and Talkeetna 1:250,000-scale quadrangles and parts of the McGrath, Seldovia, and Tyonek 1:250,000-scale quadrangles in Alaska. These geochemical surveys provide data necessary to assess the potential for undiscovered mineral resources and provide data that may be used to determine regional-scale element baselines. This report provides new data for 1,075 of the previously collected stream-sediment samples. The new analyses include a broader spectrum of elements and provide data that are more precise than the original analyses. All samples were analyzed for arsenic by hydride generation atomic absorption spectrometry, for gold, palladium, and platinum by inductively coupled plasma-mass spectrometry after lead button fire assay separation, and for a suite of 55 major, rare earth, and trace elements by inductively coupled plasma-atomic emission spectrometry and inductively coupled plasma-mass spectrometry after sodium peroxide sinter at 450 degrees Celsius.

  12. Lake Cadagno

    DEFF Research Database (Denmark)

    Tonolla, Mauro; Storelli, Nicola; Danza, Francesco

    2017-01-01

    Lake Cadagno (26 ha) is a crenogenic meromictic lake located in the Swiss Alps at 1921 m asl with a maximum depth of 21 m. The presence of crystalline rocks and a dolomite vein rich in gypsum in the catchment area makes the lake a typical “sulphuretum ” dominated by coupled carbon and sulphur cyc...

  13. Tetrabenazine is neuroprotective in Huntington's disease mice

    Directory of Open Access Journals (Sweden)

    Tang Tie-Shan

    2010-04-01

    Full Text Available Abstract Background Huntington's disease (HD is a neurodegenerative disorder caused by a polyglutamine (polyQ expansion in Huntingtin protein (Htt. PolyQ expansion in Httexp causes selective degeneration of striatal medium spiny neurons (MSN in HD patients. A number of previous studies suggested that dopamine signaling plays an important role in HD pathogenesis. A specific inhibitor of vesicular monoamine transporter (VMAT2 tetrabenazine (TBZ has been recently approved by Food and Drug Administration for treatment of HD patients in the USA. TBZ acts by reducing dopaminergic input to the striatum. Results In previous studies we demonstrated that long-term feeding with TBZ (combined with L-Dopa alleviated the motor deficits and reduced the striatal neuronal loss in the yeast artificial chromosome transgenic mouse model of HD (YAC128 mice. To further investigate a potential beneficial effects of TBZ for HD treatment, we here repeated TBZ evaluation in YAC128 mice starting TBZ treatment at 2 months of age ("early" TBZ group and at 6 months of age ("late" TBZ group. In agreement with our previous studies, we found that both "early" and "late" TBZ treatments alleviated motor deficits and reduced striatal cell loss in YAC128 mice. In addition, we have been able to recapitulate and quantify depression-like symptoms in TBZ-treated mice, reminiscent of common side effects observed in HD patients taking TBZ. Conclusions Our results further support therapeutic value of TBZ for treatment of HD but also highlight the need to develop more specific dopamine antagonists which are less prone to side-effects.

  14. Everyday cognition in prodromal Huntington disease.

    Science.gov (United States)

    Williams, Janet K; Kim, Ji-In; Downing, Nancy; Farias, Sarah; Harrington, Deborah L; Long, Jeffrey D; Mills, James A; Paulsen, Jane S

    2015-03-01

    Assessment of daily functions affected by cognitive loss in prodromal Huntington's disease (HD) is necessary in practice and clinical trials. We evaluated baseline and longitudinal sensitivity of the Everyday Cognition (ECog) scales in prodromal HD and compared self- and companion-ratings. Everyday cognition was self-assessed by 850 participants with prodromal HD and 768 companions. We examined internal structure using confirmatory factor analysis (CFA) on baseline data. For longitudinal analysis, we stratified participants into Low, Medium, and High disease progression groups. We examined ECog scores for group differences and participant-and-companion differences using linear mixed effects regression (LMER). Comparison with the Total Functional Capacity (TFC) scale was made. CFA revealed good fit of a 5-factor model having a global factor (total score), and subfactors (subscales) of memory, language, visuospatial perception, and executive function. At study entry, participants and companions in the Medium and High groups reported significantly worsened everyday cognition as well as significant functional decline over time. Losses became more pronounced and participant and companion ratings diverged as individuals progressed. TFC showed significant functional loss over time in the High group but not in the Medium group. Disease progression is associated with reduced self- and companion-reported everyday cognition in prodromal HD participants who are less than 13 years to estimated motor onset. Our findings suggest companion ratings are more sensitive than participants' for detecting longitudinal change in daily cognitive function. ECog appears more sensitive to specific functional changes in the prodrome of HD than the TFC. PsycINFO Database Record (c) 2015 APA, all rights reserved.

  15. LIMNOLOGY, LAKE BASINS, LAKE WATERS

    Directory of Open Access Journals (Sweden)

    Petre GÂŞTESCU

    2009-06-01

    Full Text Available Limnology is a border discipline between geography, hydrology and biology, and is also closely connected with other sciences, from it borrows research methods. Physical limnology (the geography of lakes, studies lake biotopes, and biological limnology (the biology of lakes, studies lake biocoenoses. The father of limnology is the Swiss scientist F.A. Forel, the author of a three-volume entitled Le Leman: monographie limnologique (1892-1904, which focuses on the geology physics, chemistry and biology of lakes. He was also author of the first textbook of limnology, Handbuch der Seenkunde: allgemeine Limnologie,(1901. Since both the lake biotope and its biohydrocoenosis make up a single whole, the lake and lakes, respectively, represent the most typical systems in nature. They could be called limnosystems (lacustrine ecosystems, a microcosm in itself, as the American biologist St.A. Forbes put it (1887.

  16. 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.

  17. The Counselor and Genetic Disease: Huntington's Disease as a Model.

    Science.gov (United States)

    Wexler, Nancy S.

    This speech offers a brief description of Huntington's Disease (HD): its causes, symptoms, and incidence. It then concentrates on the psychological problems of persons one of whose parents had the disease, and the role of the counselor in helping these humans cope with their fears about contacting it themselves. A relatively detailed case study is…

  18. Age, CAG repeat length, and clinical progression in Huntington's disease.

    Science.gov (United States)

    Rosenblatt, Adam; Kumar, Brahma V; Mo, Alisa; Welsh, Claire S; Margolis, Russell L; Ross, Christopher A

    2012-02-01

    The objective of this study was to further explore the effect of CAG repeat length on the rate of clinical progression in patients with Huntington's disease. The dataset included records for 569 subjects followed prospectively at the Baltimore Huntington's Disease Center. Participants were seen for a mean of 7.1 visits, with a mean follow-up of 8.2 years. Subjects were evaluated using the Quantified Neurologic Examination and its Motor Impairment subscale, the Mini-Mental State Examination, and the Huntington's disease Activities of Daily Living Scale. By itself, CAG repeat length showed a statistically significant but small effect on the progression of all clinical measures. Contrary to our previous expectations, controlling for age of onset increased the correlation between CAG repeat length and progression of all variables by 69% to 159%. Graphical models further supported the idea that individuals with smaller triplet expansions experience a more gradual decline. CAG repeat length becomes an important determinant of clinical prognosis when accounting for age of onset. This suggests that the aging process itself influences clinical outcomes in Huntington's disease. Inconsistent results in prior studies examining CAG repeat length and progression may indeed reflect a lack of age adjustment.

  19. Biological Markers of Cognition in Prodromal Huntington's Disease: A Review

    Science.gov (United States)

    Papp, Kathryn V.; Kaplan, Richard F.; Snyder, Peter J.

    2011-01-01

    Huntington's disease (HD), an autosomal-dominant genetic disorder, has historically been viewed as a degenerative movement disorder but it also includes psychiatric symptoms and progressive cognitive decline. There has been a lack of consensus in the literature about whether or not cognitive signs can be detected in carriers before clinical…

  20. Huntington II Simulation Program-POLUT. Teacher's Guide.

    Science.gov (United States)

    Braun, L.; And Others

    This teacher's guide is written to accompany the Huntington II Simulation Program - POLUT. POLUT is a program written in BASIC which provides simulation of the interaction between water and waste. It creates a context within which the user can control specific variables which effect the quality of a water resource. The teacher's guide provides…

  1. 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 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 ...

  2. Clinical and genetic features of Huntington disease in Sri Lanka.

    Science.gov (United States)

    Sumathipala, Dulika S; Jayasekara, Rohan W; Dissanayake, Vajira H W

    2013-12-05

    Huntington disease was one of the first neurological hereditary diseases for which genetic testing was made possible as early as 1993. The study describes the clinical and genetic characteristics of patients with Huntington disease in Sri Lanka. Data of 35 consecutive patients tested from 2007 to 2012 at the Human Genetics Unit, Faculty of Medicine, University of Colombo was analyzed retrospectively. Clinical data and genetic diagnostic results were reviewed. Statistical analysis was performed using descriptive statistics. Thirty patients had fully penetrant (FP) CAG repeat mutations and 5 had reduced penetrant (RP) CAG repeat mutations. In the FP group mean ages of onset and diagnosis were 37.5 and 40.4 years, while in the RP group it was 63.0 and 64.8 years respectively. The age of diagnosis ranged from 15 to 72 years, with 2 patients with Juvenile onset (60 years) Huntington disease. The symptoms at diagnosis were predominantly motor (32/35 -91%). Three patients had psychiatric and behavioral disorders. The age difference between onset and genetic diagnosis showed significant delay in females compared to males (p Huntington disease in the Sri Lankan study population were similar to that previously reported in literature.

  3. 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.

  4. Expression pattern of apoptosis-related markers in Huntington's disease

    NARCIS (Netherlands)

    Vis, José C; Schipper, Ellis; de Boer-van Huizen, Roelie T; Verbeek, Marcel M; de Waal, Rob M W; Wesseling, Pieter; ten Donkelaar, Hans J; Kremer, Berry

    2005-01-01

    Inappropriate apoptosis has been implicated in the mechanism of neuronal death in Huntington's disease (HD). In this study, we report the expression of apoptotic markers in HD caudate nucleus (grades 1-4) and compare this with controls without neurological disease. Terminal transferase-mediated biot

  5. Geologic map of the Themis Regio quadrangle (V-53), Venus

    Science.gov (United States)

    Stofan, Ellen R.; Brian, Antony W.

    2012-01-01

    The Themis Regio quadrangle (V-53), Venus, has been geologically mapped at 1:5,000,000 scale as part of the NASA Planetary Geologic Mapping Program. The quadrangle extends from lat 25° to 50° S. and from long 270° to 300° E. and encompasses the Themis Regio highland, the surrounding plains, and the southernmost extension of Parga Chasmata. Themis Regio is a broad regional topographic high with a diameter of about 2,000 km and a height of about 0.5 km that has been interpreted previously as a hotspot underlain by a mantle plume. The Themis rise is dominated by coronae and lies at the terminus of the Parga Chasmata corona chain. Themis Regio is the only one of the three corona-dominated rises that contains significant extensional deformation. Fractures and grabens are much less common than along the rest of Parga Chasmata and are embayed by corona-related flows in places. Rift and corona formation has overlapped in time at Themis Regio.

  6. National uranium resource evaluation program: hydrogeochemical and stream sediment reconnaissance basic data for Fresno quadrangle, California

    Energy Technology Data Exchange (ETDEWEB)

    1981-10-15

    Field and laboratory data are presented for 1038 sediment samples from the Fresno Quadrangle, California. The samples were collected by Savannah River Laboratory; laboratory analysis and data reporting were perfomed by the Uranium Resource Evaluation Project at Oak Ridge, Tennessee.

  7. Digital Geologic Map of the Fourmile quadrangle, South Dakota (NPS, GRD, GRE, WICA)

    Data.gov (United States)

    National Park Service, Department of the Interior — The Digital Geologic Map of the Fourmile quadrangle, South Dakota is composed of GIS data layers, two ancillary GIS tables, a Windows Help File with ancillary map...

  8. Digital Geologic Map of the Mount Coolidge quadrangle, South Dakota (NPS, GRD, GRE, WICA)

    Data.gov (United States)

    National Park Service, Department of the Interior — The Digital Geologic Map of the Mount Coolidge quadrangle, South Dakota is composed of GIS data layers, two ancillary GIS tables, a Windows Help File with ancillary...

  9. Digital Geologic Map of the Boland Ridge quadrangle, South Dakota (NPS, GRD, GRE, WICA)

    Data.gov (United States)

    National Park Service, Department of the Interior — The Digital Geologic Map of the Boland Ridge quadrangle, South Dakota is composed of GIS data layers, two ancillary GIS tables, a Windows Help File with ancillary...

  10. Digital Geologic Map of the Cicero Peak quadrangle, South Dakota (NPS, GRD, GRE, WICA)

    Data.gov (United States)

    National Park Service, Department of the Interior — The Digital Geologic Map of the Cicero Peak quadrangle, South Dakota is composed of GIS data layers, two ancillary GIS tables, a Windows Help File with ancillary map...

  11. Digital Geologic Map of the Argile quadrangle, South Dakota (NPS, GRD, GRE, WICA)

    Data.gov (United States)

    National Park Service, Department of the Interior — The Digital Geologic Map of the Argile quadrangle, South Dakota is composed of GIS data layers, two ancillary GIS tables, a Windows Help File with ancillary map...

  12. Digital Geologic Map of the Wind Cave quadrangle, South Dakota (NPS, GRD, GRE, WICA)

    Data.gov (United States)

    National Park Service, Department of the Interior — The Digital Geologic Map of the Wind Cave quadrangle, South Dakota is composed of GIS data layers, two ancillary GIS tables, a Windows Help File with ancillary map...

  13. Digital Geologic Map of the Pringle quadrangle, South Dakota (NPS, GRD, GRE, WICA)

    Data.gov (United States)

    National Park Service, Department of the Interior — The Digital Geologic Map of the Pringle quadrangle, South Dakota is composed of GIS data layers, two ancillary GIS tables, a Windows Help File with ancillary map...

  14. Digital Geologic Map of the Butcher Hill quadrangle, South Dakota (NPS, GRD, GRE, WICA)

    Data.gov (United States)

    National Park Service, Department of the Interior — The Digital Geologic Map of the Butcher Hill quadrangle, South Dakota is composed of GIS data layers, two ancillary GIS tables, a Windows Help File with ancillary...

  15. 7.5min Quadrangle Index for Acadia National Park (index24.shp)

    Data.gov (United States)

    National Park Service, Department of the Interior — INDEX24 contains 1:24,000 scale neatlines for USGS 7.5 minute quadrangle maps covering Acadia National Park's GIS project area in Maine. The index was originally...

  16. USGS 1:12000 (Quarter 7 1/2 Minute) Quadrangle Index

    Data.gov (United States)

    Minnesota Department of Natural Resources — This is a mathematically generated grid in which each polygon represents one quarter of a standard USGS 7 1/2 minute quadrangle. The result is a 3 3/4 minute...

  17. Surficial geology of the Cabot 7 1/2 minute quadrangle, Vermont

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital data from VG2016-3 Springston, G., 2016, Surficial geology of the Cabot 7 1/2 minute quadrangle, Vermont: Vermont Geological Survey Open File Report...

  18. Digital bedrock geologic map of the Morrisville quadrangle,�Vermont

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital Data from VG98-1 Springston, G., Kim, J., and Applegate, G.S., 1998,�Digital bedrock geologic map of the Morrisville quadrangle,�Vermont: VGS Open-File...

  19. Digital and preliminary bedrock geologic map of the Wallingford quadrangle, Vermont

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital Data from VG98-335A Burton, WC, and Ratcliffe, NM, 2000, Digital and preliminary bedrock geologic map of the Wallingford quadrangle, Vermont: USGS Open-File...

  20. Digital compilation bedrock geologic map of part of the Waitsfield quadrangle, Vermont

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital Data from VG96-03�Digital compilation bedrock geologic map of part of the Waitsfield quadrangle, Vermont: VGS Open-File Report VG96-3A, 2 plates, scale...

  1. Digital bedrock geologic map of the Mount Snow & Readsboro quadrangles, Vermont

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital Data from VG95-DM1 Ratcliffe, NM, 1995, Digital bedrock geologic map of the Mount Snow & Readsboro quadrangles, Vermont, scale 1:24000, The bedrock...

  2. Digital and preliminary bedrock geologic map of the Chittenden quadrangle, Vermont

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital Data from VG97-854A Ratcliffe, NM, 1997,�Digital and preliminary bedrock geologic map of the Chittenden quadrangle, Vermont: USGS Open-File Report 97-854, 1...

  3. Digital and preliminary bedrock geologic map of the Pico Peak quadrangle, Vermont

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital Data from VG98-226A Walsh, G. J., and Ratcliffe, N.M., 1998,�Digital and preliminary bedrock geologic map of the Pico Peak quadrangle, Vermont: USGS...

  4. Bedrock Geologic Map of the Mount Mansfield 7.5 Minute Quadrangle, Vermont

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital Data from VG2017-2 Thompson, P. J., and Thompson, T. B., 2017, Bedrock Geologic Map of the Mount Mansfield 7.5 Minute Quadrangle, Vermont: VGS Open-File...

  5. Bedrock geologic map of parts of the Eden, Albany, Lowell, and Irasburg quadrangles, Vermont

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital Data from VG09-4 (Digitized draft of VG97-5): Kim, J., 2009, Bedrock geologic map of parts of the Eden, Albany, Lowell, and Irasburg quadrangles, VGS...

  6. Digital data for the Hazens Notch and a portion of the Lowell quadrangles, Vermont

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital Data from VG03-3B Digital data for the Hazens Notch and a portion of the Lowell quadrangles, Vermont: Vermont Geological Survey Open File Report VG03-3B, The...

  7. Surficial Geologic Map of the Pico Peak, Vermont 7.5 Minute Quadrangle

    Data.gov (United States)

    Vermont Center for Geographic Information — "Digital data from VG12-1 Wright, S., 2012, Surficial Geologic Map of the Pico Peak, Vermont 7.5 Minute Quadrangle: Vermont Geological Survey Open File Report...

  8. USGS map quadrangle index: 1:63,360 scale maps of Alaska

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — Map quadrangle boundaries for the 1:63,360-scale maps of Alaska, with unique identification codes conforming to the scheme used in the related data set quad24, which...

  9. Digital and preliminary bedrock geologic map of the Mount Carmel quadrangle, Vermont

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital Data from VG98-330A Ratcliffe, N.M., and Walsh, G. J., 1998, Digital and preliminary bedrock geologic map of the Mount Carmel quadrangle, Vermont: USGS...

  10. Employing Real Time PCR for the Diagnosis of Huntington Disease

    Directory of Open Access Journals (Sweden)

    Frouzandeh Mahjoubi

    2013-07-01

    Full Text Available Background: Huntington disease (HD is a dominantly inherited, neurodegenerative disease characterized by choreiform movement disturbances and dementia. The onset age of this disease is varied but usually is between the ages 40-50. Huntington's disease is caused by a triplet-repeat expansion in the IT15 gene (also known as huntingtin or HD which is located on chromosome 4p3.1. Since many clinical picture of HD are indistinguishable from other distinct genetic disorders molecular test such as PCR is the only way to confirm the disease. The aim of this study was to introduce a new and fast technique for the diagnosis of Huntington disease.Materials and Methods: Blood specimens were collected from individuals suspected for Huntington disease and also people with no symptoms and family history of this disease. DNAs were extracted according to standard protocol. Using conventional PCR, patient positive for Huntington disease were diagnosed. Then employing real time PCR on the basis of difference between melting temperature (Tm a new and fast diagnostic method was introduced.Results: Among 29 patients suspected to be HD only 8 HD patients were confirmed using PCR and real time PCR. The numbers of CAG repeat were between 42-50 and melting temperatures were between 89-92.Conclusion: The concept of using melting temperature in real time PCR protocol presented in here could be employed for the rapid diagnosis of the diseases caused by the increased in triple repeat sequences. It is fast, robust and has the potential use for the prenatal diagnosis.

  11. 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

  12. Uranium hydrogeochemical and stream-sediment reconnaissance of the Bettles NTMS quadrangle, Alaska

    Energy Technology Data Exchange (ETDEWEB)

    D& #x27; Andrea, Jr., R. F.; Zinkl, R. J.; Shettel, Jr., D. L.; Langfeldt, S. L.; Hardy, L. C. [comps.

    1982-02-01

    This report presents results of a Hydrogeochemical and Stream Sediment Reconnaissance (HSSR) of the Bettles NTMS quadrangle, Alaska. In addition to this abbreviated data release, more complete data are available to the public in machine-readable form. These machine-readable data, as well as quarterly or semiannual program progress reports containing further information on the HSSR program in general, or on the Los Alamos National Laboratory (LANL) portion of the program in particular, are available from DOE's Technical Library at its Grand Junction Area Office. Presented in this data release are location data, field analyses, and laboratory analyses of several different sample media. For the sake of brevity, many field site observations have not been included in this volume; these data are, however, available on the magnetic tape. Appendices A and B describe the sample media and summarize the analytical results for each medium. The data have been subdivided by one of the Los Alamos National Laboratory sorting programs of Zinkl and others (1981a) into groups of stream-sediment and lake-sediment samples. For each group which contains a sufficient number of observations, statistical tables, tables of raw data, and 1:1,000,000 scale maps of pertinent elements have been included in this report. Also included are maps showing results of multivariate statistical analyses. Information on the field and analytical procedures used by the Los Alamos National Laboratory during sample collection and analysis may be found in any HSSR data release prepared by the Laboratory and will not be included in this report.

  13. Uranium hydrogeochemical and stream-sediment reconnaissance of the Big Delta NTMS quadrangle, Alaska

    Energy Technology Data Exchange (ETDEWEB)

    Hardy, L. C.; D& #x27; Andrea, Jr., R. F.; Zinkl, R. J.; Shettel, Jr., D. L.; Langfeldt, S. L. [comps.

    1982-02-01

    This report presents results of a Hydrogeochemical and Stream Sediment Reconnaissance (HSSR) of the Big Delta NTMS quadrangle, Alaska. In addition to this abbreviated data release, more complete data are available to the public in machine-readable form. These machine-readable data, as well as quarterly or semiannual program progress reports containing further information on the HSSR program in general, or on the Los Alamos National Laboratory (LANL) portion of the program in particular, are available from DOE's Technical Library at its Grand Junction Area Office. Presented in this data release are location data, field analyses, and laboratory analyses of several different sample media. For the sake of brevity, many field site observations have not been included in this volume; these data are, however, available on the magnetic tape. Appendices A and B describe the sample media and summarize the analytical results for each medium. The data have been subdivided by one of the Los Alamos National Laboratory sorting programs of Zinkl and others (1981a) into groups of stream-sediment and lake-sediment samples. For each group which contains a sufficient number of observations, statistical tables, tables of raw data, and 1:1,000,000 scale maps of pertinent elements have been included in this report. Also included are maps showing results of multivariate statistical analyses. Information on the field and analytical procedures used by the Los Alamos National Laboratory during sample collection and analysis may be found in any HSSR data release prepared by the Laboratory and will not be included in this report.

  14. Uranium hydrogeochemical and stream-sediment reconnaissance of the Juneau NTMS quadrangle, Alaska

    Energy Technology Data Exchange (ETDEWEB)

    Zinkl, R. J.; Shettel, Jr., D. L.; Langfeldt, S. L.; Hardy, L. C.; D& #x27; Andrea, Jr., R. F. [comps.

    1982-04-01

    This report presents results of a Hydrogeochemical and Stream Sediment Reconnaissance (HSSR) of the Juneau NTMS quadrangle, Alaska. In addition to this abbreviated data release, more complete data are available to the public in machine-readable form. These machine-readable data, as well as quarterly or semiannual program progress reports containing further information on the HSSR program in general, or on the Los Alamos National Laboratory (LANL) portion of the program in particular, are available from DOE's Technical Library at its Grand Junction Area Office. Presented in this data release are location data, field analyses, and laboratory analyses of several different sample media. For the sake of brevity, many field site observations have not been included in this volume; these data are, however, available on the magnetic tape. Appendices A and B describe the sample media and summarize the analytical results for each medium. The data have been subdivided by one of the Los Alamos National Laboratory sorting programs of Zinkl and others (1981a) into stream-sediment and lake-sediment samples. For each group which contains a sufficient number of observations, statistical tables, tables of raw data, and 1:1,000,000 scale maps of pertinent elements have been included in this report. Also included are maps showing results of multivariate statistical analyses. Information on the field and analytical procedures used by the Los Alamos National Laboratory during sample collection and analysis may be found in any HSSR data release prepared by the Laboratory and will not be included in this report.

  15. Uranium hydrogeochemical and stream-sediment reconnaissance of the Wainwright NTMS quadrangle, Alaska

    Energy Technology Data Exchange (ETDEWEB)

    Langfeldt, S. L.; Hardy, L. C.; D& #x27; Andrea, Jr., R. F.; Zinkl, R. J.; Shettel, Jr., D. L. [comps.

    1982-04-01

    This report presents results of a Hydrogeochemical and Stream Sediment Reconnaissance (HSSR) of the Wainwright NTMS quadrangle, Alaska. In addition to this abbreviated data release, more complete data are available to the public in machine-readable form. These machine-readable data, as well as quarterly or semiannual program progress reports containing further information on the HSSR program in general, or on the Los Alamos National Laboratory (LANL) portion of the program in particular, are available from DOE's Technical Library at its Grand Junction Area Office. Presented in this data release are location data, field analyses, and laboratory analyses of several different sample media. For the sake of brevity, many field site observations have not been included in this volume; these data are, however, available on the magnetic tape. Appendices A and B describe the sample media and summarize the analytical results for each medium. The data have been subdivided by one of the Los Alamos National Laboratory sorting programs of Zinkl and others (1981a) into groups of stream-sediment and lake-sediment samples. For each group which contains a sufficient number of observations, statistical tables, tables of raw data, and 1:1,000,000 scale maps of pertinent elements have been included in this report. Also included are maps showing results of multivariate statistical analyses. Information on the field and analytical procedures used by the Los Alamos National Laboratory during sample collection and analysis may be found in any HSSR data release prepared by the Laboratory and will not be included in this report.

  16. Uranium hydrogeochemical and stream-sediment reconnaissance of the Mt. Michelson NTMS quadrangle, Alaska

    Energy Technology Data Exchange (ETDEWEB)

    Zinkl, R.J.; Shettel, D.L. Jr.; Langfeldt, S.L.; Hardy, L.C.; D' Andrea, R.F. Jr. (comps.)

    1982-04-01

    This report presents results of a Hydrogeochemical and Stream Sediment Reconnaissance (HSSR) of the Mt. Michelson NTMS quadrangle, Alaska. In addition to this abbreviated data release, more complete data are available to the public in machine-readable form. These machine-readable data, as well as quarterly or semiannual program progress reports containing further information on the HSSR program in general, or on the Los Alamos National Laboratory (LANL) portion of the program in particular, are available from DOE's Technical Library at its Grand Junction Area Office. Presented in this data release are location data, field analyses, and laboratory analyses of several different sample media. For the sake of brevity, many field site observations have not been included in this volume; these data are, however, available on the magnetic tape. Appendices A and B describe the sample media and summarize the analytical results for each medium. The data have been subdivided by one of the Los Alamos National Laboratory sorting programs of Zinkl and others (1981a) into groups of stream-sediment and lake-sediment samples. For each group which contains a sufficient number of observations, statistical tables, tables of raw data, and 1:1,000,000 scale maps of pertinent elements have been included in this report. Also included are maps showing results of multivariate statistical analyses. Information on the field and analytical procedures used by the Los Alamos National Laboratory during sample collection and analysis may be found in any HSSR data release prepared by the Laboratory and will not be included in this report.

  17. Geology of the Cerro Summit quadrangle, Montrose County, Colorado

    Science.gov (United States)

    Dickinson, Robert G.

    1966-01-01

    The Cerro Summit quadrangle covers 58 square miles of dissected plateau on the south flank of the Gunnison uplift in southwestern Colorado. It lies east of the Uncompahgre River valley and south of the Black Canyon of the Gunnison River. Rocks dip gently in most of the quadrangle, but they are locally upturned and faulted on the margin of the Gunnison uplift and are intensely deformed in the core of the uplift. The rocks exposed are of Precambrian, late Mesozoic, and Cenozoic age. Precambrian rocks include metasedimentary schist and gneiss, granitic pegmatite, and olivine gabbro. The oldest Mesozoic rocks exposed are continental, fresh-water, and lagoonal deposits in the Late Jurassic Entrada Sandstone, Wanakah Formation, and Morrison Formation. Channel-fill deposits that unconformably overlie the Jurassic rocks are possibly the Burro Canyon Formation of Early Cretaceous age. Upper Cretaceous rocks include marine and nearshore deposits of the Dakota Sandstone, Mancos Shale, and Pictured Cliffs Sandstone, and the fresh- and brackish-water sandstone, shale, and coal of the Fruitland Formation. Rocks of Late Cretaceous age that crop out in the adjacent Cimarron Ridge area may also have been deposited in this quadrangle but are now eroded; these rocks include the nonmarine Kirtland Shale and an unnamed volcanic conglomerate and tuff breccia. Nine faunal zones in the Mancos Shale help to establish the correct correlation of units in the Upper Cretaceous. The Pictured Cliffs Sandstone, Fruitland Formation, and Kirtland Shale of the Cerro Summit area have been mapped by some geologists as the Mesaverde Formation. Fossils indicate that the rocks are younger than the type Mesaverde. The unnamed volcanic rocks represent major volcanism in nearby areas. A Late Cretaceous (Maestrichtian) age for the volcanism is indicated by palynological evidence and an isotopic age of approximately 66 million years. Middle Tertiary rocks are conglomerate and tuff breccia. Upper Tertiary or

  18. Geologic Map of the Goleta Quadrangle, Santa Barbara County, California

    Science.gov (United States)

    Minor, Scott A.; Kellogg, Karl S.; Stanley, Richard G.; Brandt, Theodore R.

    2007-01-01

    This map depicts the distribution of bedrock units and surficial deposits and associated deformation underlying those parts of the Santa Barbara coastal plain and adjacent southern flank of the Santa Ynez Mountains within the Goleta 7 ?? quadrangle at a compilation scale of 1:24,000 (one inch on the map = 2,000 feet on the ground) and with a horizontal positional accuracy of at least 20 m. The Goleta map overlaps an earlier preliminary geologic map of the central part of the coastal plain (Minor and others, 2002) that provided coverage within the coastal, central parts of the Goleta and contiguous Santa Barbara quadrangles. In addition to new mapping in the northern part of the Goleta quadrangle, geologic mapping in other parts of the map area has been revised from the preliminary map compilation based on new structural interpretations supplemented by new biostratigraphic data. All surficial and bedrock map units are described in detail in the accompanying map pamphlet. Abundant biostratigraphic and biochronologic data based on microfossil identifications are presented in expanded unit descriptions of the marine Neogene Monterey and Sisquoc Formations. Site-specific fault-kinematic observations (including slip-sense determinations) are embedded in the digital map database. The Goleta quadrangle is located in the western Transverse Ranges physiographic province along an east-west-trending segment of the southern California coastline about 100 km (62 mi) northwest of Los Angeles. The Santa Barbara coastal plain surface, which spans the central part of the quadrangle, includes several mesas and hills that are geomorphic expressions of underlying, potentially active folds and partly buried oblique and reverse faults of the Santa Barbara fold and fault belt (SBFFB). Strong earthquakes have occurred offshore within 10 km of the Santa Barbara coastal plain in 1925 (6.3 magnitude), 1941 (5.5 magnitude) and 1978 (5.1 magnitude). These and numerous smaller seismic events

  19. 27 CFR 9.128 - Seneca Lake.

    Science.gov (United States)

    2010-04-01

    ... Co. 1942 (photoinspected 1976)); (8) Stanley Quadrangle (New York 1952); (9) Phelps Quadrangle (New... unnamed medium duty road, known locally as County Road 4, on the Phelps, N.Y. map; (11) Continue...

  20. Historic Trail Map of the La Junta 1 Degree x 2 Degree Quadrangle, Southeastern Colorado and Western Kansas

    Science.gov (United States)

    Scott, Glenn R.; Louden, Richard H.; Brunstein, F. Craig; Quesenberry, Carol A.

    2008-01-01

    This historic trail map of the La Junta quadrangle contains all or part of eight Colorado and Kansas counties. Many of the historic trails in the La Junta quadrangle were used by Indians long before the white man reached the area. The earliest recorded use of the trails by white men in the quadrangle was in the 1820s when traders brought goods from St. Louis for barter with the Indians and for commerce with the Mexican settlements in New Mexico. The map and accompanying pamphlet include an introduction and the method of preparation used by the authors. The pamphlet includes a description of the early explorers along the Arkansas River and on the Santa Fe Trail, as well as roads established or proposed under General Assembly session law, Colorado Territorial corporations and charters, 1859-1876, and freighting companies. Stage companies that probably operated in the La Junta quadrangle also are described. The authors include a section on railroads in the quadrangle and north of the quadrangle along the Arkansas River. Military and civilian camps, forts, and bases are reported. Moreover, fossils and plants in the quadrangle are described. Indian tribes - Early Man or paleo-Indians, Archaic Indians, prehistoric and historic Indians, and historic Indian tribes in the quadrangle - are reported. Authors include place names within and along freight routes leading to the La Junta quadrangle. A full description of the contents along with three figures can be found in the Introduction.

  1. Historic trail map of the La Junta 1 degree x 2 degree quadrangle, southeastern Colorado and western Kansas

    Science.gov (United States)

    Scott, Glenn R.; Louden, Richard H.; Brunstein, F. Craig; Quesenberry, Carol A.

    2008-01-01

    This historic trail map of the La Junta quadrangle contains all or part of eight Colorado and Kansas counties. Many of the historic trails in the La Junta quadrangle were used by Indians long before the white man reached the area. The earliest recorded use of the trails by white men in the quadrangle was in the 1820s when traders brought goods from St. Louis for barter with the Indians and for commerce with the Mexican settlements in New Mexico. The map and accompanying pamphlet include an introduction and the method of preparation used by the authors. The pamphlet includes a description of the early explorers along the Arkansas River and on the Santa Fe Trail, as well as roads established or proposed under General Assembly session law, Colorado Territorial corporations and charters, 1859-1876, and freighting companies. Stage companies that probably operated in the La Junta quadrangle also are described. The authors include a section on railroads in the quadrangle and north of the quadrangle along the Arkansas River. Military and civilian camps, forts, and bases are reported. Moreover, fossils and plants in the quadrangle are described. Indian tribes - Early Man or paleo-Indians, Archaic Indians, prehistoric and historic Indians, and historic Indian tribes in the quadrangle - are reported. Authors include place names within and along freight routes leading to the La Junta quadrangle. A full description of the contents along with three figures can be found in the Introduction.

  2. Targeting the Cholinergic System to Develop a Novel Therapy for Huntington's Disease.

    Science.gov (United States)

    D'Souza, Gary X; Waldvogel, Henry J

    2016-12-15

    In this review, we outline the role of the cholinergic system in Huntington's disease, and briefly describe the dysfunction of cholinergic transmission, cholinergic neurons, cholinergic receptors and cholinergic survival factors observed in post-mortem human brains and animal models of Huntington's disease. We postulate how the dysfunctional cholinergic system can be targeted to develop novel therapies for Huntington's disease, and discuss the beneficial effects of cholinergic therapies in pre-clinical and clinical studies.

  3. Crime in Huntington's disease: a study of registered offences among patients, relatives, and controls

    OpenAIRE

    Jensen, P; Fenger, K; Bolwig, T; Sorensen, S. A.

    1998-01-01

    OBJECTIVES—Criminal behaviour has been described as a problem in Huntington's disease, but systematic studies including control groups have been missing. Based on information from Danish registries, rates and types of crime committed by patients with Huntington's disease, non-affected relatives, and controls were studied.
METHODS—99 males and 151 females with Huntington's disease were compared with 334 non-affected first degree relatives (134 men and 200 women) and to matche...

  4. Geologic Map of the Sif Mons Quadrangle (V-31), Venus

    Science.gov (United States)

    Copp, Duncan L.; Guest, John E.

    2007-01-01

    The Magellan spacecraft orbited Venus from August 10, 1990, until it plunged into the Venusian atmosphere on October 12, 1994. Magellan Mission objectives included (1) improving the knowledge of the geological processes, surface properties, and geologic history of Venus by analysis of surface radar characteristics, topography, and morphology and (2) improving the knowledge of the geophysics of Venus by analysis of Venusian gravity. The Sif Mons quadrangle of Venus includes lat 0? to 25? N. and long 330? to 0? E.; it covers an area of about 8.10 x 106 km2 (fig. 1). The data used to construct the geologic map were from the National Aeronautics and Space Administration (NASA) Magellan Mission. The area is also covered by Arecibo images, which were also consulted (Campbell and Campbell, 1990; Campbell and others, 1989). Data from the Soviet Venera orbiters do not cover this area. All of the SAR products were employed for geologic mapping. C1-MIDRs were used for general recognition of units and structures; F-MIDRs and F-MAPs were used for more specific examination of surface characteristics and structures. Where the highest resolution was required or some image processing was necessary to solve a particular mapping problem, the images were examined using the digital data on CD-ROMs. In cycle 1, the SAR incidence angles for images obtained for the Sif Mons quadrangle ranged from 44? to 46?; in cycle 3, they were between 25? and 26?. We use the term 'high backscatter' of a material unit to imply a rough surface texture at the wavelength scale used by Magellan SAR. Conversely, 'low backscatter' implies a smooth surface. In addition, altimetric, radiometric, and rms slope data were superposed on SAR images. Figure 2 shows altimetry data; figure 3 shows images of ancillary data for the quadrangle; and figure 4 shows backscatter coefficient for selected units. The interpretation of these data was discussed by Ford and others (1989, 1993). For corrected backscatter and

  5. Geologic map of the Silt Quadrangle, Garfield County, Colorado

    Science.gov (United States)

    Shroba, R.R.; Scott, R.B.

    2001-01-01

    New 1:24,000-scale geologic mapping in the Silt 7.5' quadrangle, in support of the USGS Western Colorado I-70 Corridor Cooperative Geologic Mapping Project, provides new interpretations of the stratigraphy, structure, and geologic hazards in the area of the southwest flank of the White River uplift, the Grand Hogback, and the eastern Piceance Basin. The Wasatch Formation was subdivided into three formal members, the Shire, Molina, and Atwell Gulch Members. Also a sandstone unit within the Shire Member was broken out. The Mesaverde Group consists of the upper Williams Fork Formation and the lower Iles Formation. Members for the Iles Formation consist of the Rollins Sandstone, the Cozzette Sandstone, and the Corcoran Sandstone Members. The Cozzette and Corcoran Sandstone Members were mapped as a combined unit. Only the upper part of the Upper Member of the Mancos Shale is exposed in the quadrangle. From the southwestern corner of the map area toward the northwest, the unfaulted early Eocene to Paleocene Wasatch Formation and underlying Mesaverde Group gradually increase in dip to form the Grand Hogback monocline that reaches 45-75 degree dips to the southwest (section A-A'). The shallow west-northwest-trending Rifle syncline separates the northern part of the quadrangle from the southern part along the Colorado River. Geologic hazards in the map area include erosion, expansive soils, and flooding. Erosion includes mass wasting, gullying, and piping. Mass wasting involves any rock or surficial material that moves downslope under the influence of gravity, such as landslides, debris flows, or rock falls, and is generally more prevalent on steeper slopes. Locally, where the Grand Hogback is dipping greater than 60 degrees and the Wasatch Formation has been eroded, leaving sandstone slabs of the Mesa Verde Group unsupported over vertical distances as great as 500 m, the upper part of the unit has collapsed in landslides, probably by a process of beam-buckle failure. In

  6. 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...

  7. 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.

  8. Abnormalities in the tricarboxylic Acid cycle in Huntington disease and in a Huntington disease mouse model.

    Science.gov (United States)

    Naseri, Nima N; Xu, Hui; Bonica, Joseph; Vonsattel, Jean Paul G; Cortes, Etty P; Park, Larry C; Arjomand, Jamshid; Gibson, Gary E

    2015-06-01

    Glucose metabolism is reduced in the brains of patients with Huntington disease (HD). The mechanisms underlying this deficit, its link to the pathology of the disease, and the vulnerability of the striatum in HD remain unknown. Abnormalities in some of the key mitochondrial enzymes involved in glucose metabolism, including the pyruvate dehydrogenase complex (PDHC) and the tricarboxylic acid (TCA) cycle, may contribute to these deficits. Here, activities for these enzymes and select protein levels were measured in human postmortem cortex and in striatum and cortex of an HD mouse model (Q175); mRNA levels encoding for these enzymes were also measured in the Q175 mouse cortex. The activities of PDHC and nearly all of the TCA cycle enzymes were dramatically lower (-50% to 90%) in humans than in mice. The activity of succinate dehydrogenase increased with HD in human (35%) and mouse (23%) cortex. No other changes were detected in the human HD cortex or mouse striatum. In Q175 cortex, there were increased activities of PDHC (+12%) and aconitase (+32%). Increased mRNA levels for succinyl thiokinase (+88%) and isocitrate dehydrogenase (+64%) suggested an upregulation of the TCA cycle. These patterns of change differ from those reported in other diseases, which may offer unique metabolic therapeutic opportunities for HD patients.

  9. Geologic map of the Metis Mons quadrangle (V–6), Venus

    Science.gov (United States)

    Dohm, James M.; Tanaka, Kenneth L.; Skinner, James A.

    2011-01-01

    The Metis Mons quadrangle (V–6) in the northern hemisphere of Venus (lat 50° to 75° N., long 240° to 300° E.) includes a variety of coronae, large volcanoes, ridge and fracture (structure) belts, tesserae, impact craters, and other volcanic and structural features distributed within a plains setting, affording study of their detailed age relations and evolutionary development. Coronae in particular have magmatic, tectonic, and topographic signatures that indicate complex evolutionary histories. Previously, the geology of the map region has been described either in general or narrowly focused investigations. Based on Venera radar mapping, a 1:15,000,000-scale geologic map of part of the northern hemisphere of Venus included the V–6 map region and identified larger features such as tesserae, smooth and hummocky plains materials, ridge belts, coronae, volcanoes, and impact craters but proposed little relative-age information. Global-scale mapping from Magellan data identified similar features and also determined their mean global ages with crater counts. However, the density of craters on Venus is too low for meaningful relative-age determinations at local to regional scales. Several of the coronae in the map area have been described using Venera data (Stofan and Head, 1990), while Crumpler and others (1992) compiled detailed identification and description of volcanic and tectonic features from Magellan data. The main purpose of this map is to reconstruct the geologic history of the Metis Mons quadrangle at a level of detail commensurate with a scale of 1:5,000,000 using Magellan data. We interpret four partly overlapping stages of geologic activity, which collectively resulted in the formation of tesserae, coronae (oriented along structure belts), plains materials of varying ages, and four large volcanic constructs. Scattered impact craters, small shields and pancake-shaped domes, and isolated flows superpose the tectonically deformed materials and appear to

  10. Geologic map of the Alligator Ridge area, including the Buck Mountain East and Mooney Basin Summit quadrangles and parts of the Sunshine Well NE and Long Valley Slough quadrangles, White Pine County, Nevada

    Science.gov (United States)

    Nutt, Constance J.

    2000-01-01

    Data set describes the geology of Paleozoic through Quaternary units in the Alligator Ridge area, which hosts disseminated gold deposits. These digital files were used to create the 1:24,000-scale geologic map of the Buck Mountain East and Mooney Basin Summit Quadrangles and parts of the Sunshine Well NE and Long Valley Slough Quadrangles, White Pine County, east-central Nevada.

  11. Pluripotent hybrid stem cells from transgenic Huntington's disease monkey.

    Science.gov (United States)

    Laowtammathron, Chuti; Chan, Anthony W S

    2013-01-01

    Huntington's disease (HD) is a devastating disease that currently has no cure. Transgenic HD monkeys have developed key neuropathological and cognitive behavioral impairments similar to HD patients. Thus, pluripotent stem cells derived from transgenic HD monkeys could be a useful comparative model for clarifying HD pathogenesis and developing novel therapeutic approaches, which could be validated in HD monkeys. In order to create personal pluripotent stem cells from HD monkeys, here we present a tetraploid technique for deriving pluripotent hybrid HD monkey stem cells.

  12. Striatal degeneration impairs language learning: evidence from Huntington's disease.

    Science.gov (United States)

    De Diego-Balaguer, R; Couette, M; Dolbeau, G; Dürr, A; Youssov, K; Bachoud-Lévi, A-C

    2008-11-01

    Although the role of the striatum in language processing is still largely unclear, a number of recent proposals have outlined its specific contribution. Different studies report evidence converging to a picture where the striatum may be involved in those aspects of rule-application requiring non-automatized behaviour. This is the main characteristic of the earliest phases of language acquisition that require the online detection of distant dependencies and the creation of syntactic categories by means of rule learning. Learning of sequences and categorization processes in non-language domains has been known to require striatal recruitment. Thus, we hypothesized that the striatum should play a prominent role in the extraction of rules in learning a language. We studied 13 pre-symptomatic gene-carriers and 22 early stage patients of Huntington's disease (pre-HD), both characterized by a progressive degeneration of the striatum and 21 late stage patients Huntington's disease (18 stage II, two stage III and one stage IV) where cortical degeneration accompanies striatal degeneration. When presented with a simplified artificial language where words and rules could be extracted, early stage Huntington's disease patients (stage I) were impaired in the learning test, demonstrating a greater impairment in rule than word learning compared to the 20 age- and education-matched controls. Huntington's disease patients at later stages were impaired both on word and rule learning. While spared in their overall performance, gene-carriers having learned a set of abstract artificial language rules were then impaired in the transfer of those rules to similar artificial language structures. The correlation analyses among several neuropsychological tests assessing executive function showed that rule learning correlated with tests requiring working memory and attentional control, while word learning correlated with a test involving episodic memory. These learning impairments significantly

  13. Long-term outcome of presymptomatic testing in Huntington disease

    OpenAIRE

    Gargiulo, Marcela; Lejeune, Séverine; Tanguy, Marie-Laure; Lahlou-Laforêt, Khadija; Faudet, Anne; Cohen, David; Feingold, Josué; Durr, Alexandra

    2008-01-01

    Our study on long-term outcome of presymptomatic testing for Huntington disease had two aims: the comparison of the psychological well-being and social adjustment of carriers and non-carriers of the mutation, and the identification of psychological determinants to improve care/support of testees. We performed a cross-sectional study of 351 persons who underwent presymptomatic testing. Those who had motor signs were excluded from the comparison of asymptomatic carrier and non-carriers. A struc...

  14. The structural involvement of the cingulate cortex in premanifest and early Huntington's disease.

    Science.gov (United States)

    Hobbs, Nicola Z; Pedrick, Amy V; Say, Miranda J; Frost, Chris; Dar Santos, Rachelle; Coleman, Allison; Sturrock, Aaron; Craufurd, David; Stout, Julie C; Leavitt, Blair R; Barnes, Josephine; Tabrizi, Sarah J; Scahill, Rachael I

    2011-08-01

    The impact of Huntington's disease neuropathology on the structure of the cingulate is uncertain, with evidence of both cortical enlargement and atrophy in this structure in early clinical disease. We sought to determine differences in cingulate volume between premanifest Huntington's disease and early Huntington's disease groups compared with controls using detailed manual measurements. Thirty controls, 30 subjects with premanifest Huntington's disease, and 30 subjects with early Huntington's disease were selected from the Vancouver site of the TRACK-HD study. Subjects underwent 3 Tesla magnetic resonance imaging and motor, cognitive, and neuropsychiatric assessment. The cingulate was manually delineated and subdivided into rostral, caudal, and posterior segments. Group differences in volume and associations with performance on 4 tasks thought to utilize cingulate function were examined, with adjustment for appropriate covariates. Cingulate volumes were, on average, 1.7 mL smaller in early Huntington's disease (P=.001) and 0.9 mL smaller in premanifest Huntington's disease (P=.1) compared with controls. Smaller volumes in subsections of the cingulate were associated with impaired recognition of negative emotions (P=.04), heightened depression (P=.009), and worse visual working memory performance (P=.01). There was no evidence of associations between volume and ability on a performance-monitoring task. This study disputes previous findings of enlargement of the cingulate cortex in Huntington's disease and instead suggests that the cingulate undergoes structural degeneration during early Huntington's disease with directionally consistent, nonsignificant differences seen in premanifest Huntington's disease. Cingulate atrophy may contribute to deficits in mood, emotional processing, and visual working memory in Huntington's disease.

  15. Preimplantation genetic diagnosis for Huntington's disease with exclusion testing.

    Science.gov (United States)

    Sermon, Karen; De Rijcke, Martine; Lissens, Willy; De Vos, Anick; Platteau, Peter; Bonduelle, Maryse; Devroey, Paul; Van Steirteghem, André; Liebaers, Inge

    2002-10-01

    Huntington's disease is an autosomal dominant, late-onset disorder, for which the gene and the causative mutation have been known since 1993. Some at-risk patients choose for presymptomatic testing and can make reproductive choices accordingly. Others however, prefer not to know their carrier status, but may still wish to prevent the birth of a carrier child. For these patients, exclusion testing after prenatal sampling has been an option for many years. A disadvantage of this test is that unaffected pregnancies may be terminated if the parent at risk (50%) has not inherited the grandparental Huntington gene, leading to serious moral and ethical objections. As an alternative, preimplantation genetic diagnosis (PGD) on embryos obtained in vitro may be proposed, after which only embryos free of risk are replaced. Embryos can then be selected, either by the amplification of the CAG repeat in the embryos without communicating results to the patients (ie non-disclosure testing), which brings its own practical and moral problems, or exclusion testing. We describe here the first PGD cycles for exclusion testing for Huntington's disease in five couples. Three couples have had at least one PGD cycle so far. One pregnancy ensued and a healthy female baby was delivered.

  16. iPSC-based drug screening for Huntington's disease.

    Science.gov (United States)

    Zhang, Ningzhe; Bailus, Barbara J; Ring, Karen L; Ellerby, Lisa M

    2016-05-01

    Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder, caused by an expansion of the CAG repeat in exon 1 of the huntingtin gene. The disease generally manifests in middle age with both physical and mental symptoms. There are no effective treatments or cures and death usually occurs 10-20 years after initial symptoms. Since the original identification of the Huntington disease associated gene, in 1993, a variety of models have been created and used to advance our understanding of HD. The most recent advances have utilized stem cell models derived from HD-patient induced pluripotent stem cells (iPSCs) offering a variety of screening and model options that were not previously available. The discovery and advancement of technology to make human iPSCs has allowed for a more thorough characterization of human HD on a cellular and developmental level. The interaction between the genome editing and the stem cell fields promises to further expand the variety of HD cellular models available for researchers. In this review, we will discuss the history of Huntington's disease models, common screening assays, currently available models and future directions for modeling HD using iPSCs-derived from HD patients. This article is part of a Special Issue entitled SI: PSC and the brain. Copyright © 2015 Elsevier B.V. All rights reserved.

  17. Informativeness of Early Huntington Disease Signs about Gene Status.

    Science.gov (United States)

    Oster, Emily; Eberly, Shirley W; Dorsey, E Ray; Kayson-Rubin, Elise; Oakes, David; Shoulson, Ira

    2015-01-01

    The cohort-level risk of Huntington disease (HD) is related to the age and symptom level of the cohort, but this relationship has not been made precise. To predict the evolving likelihood of carrying the Huntington disease (HD) gene for at-risk adults using age and sign level. Using data from adults with early signs and symptoms of HD linked to information on genetic status, we use Bayes' theorem to calculate the probability that an undiagnosed individual of a certain age and sign level has an expanded CAG repeat. Both age and sign levels have substantial influence on the likelihood of HD onset, and the probability of eventual diagnosis changes as those at risk age and exhibit (or fail to exhibit) symptoms. For example, our data suggest that in a cohort of individuals age 26 with a Unified Huntington's Disease Rating Scale (UHDRS) motor score of 7-10 70% of them will carry the HD mutation. For individuals age 56, the same motor score suggests only a 40% chance of carrying the mutation. Early motor signs of HD, overall and the chorea subscore, were highly predictive of disease onset at any age. However, body mass index (BMI) and cognitive performance scores were not as highly predictive. These results suggest that if researchers or clinicians are looking for early clues of HD, it may be more foretelling to look at motor rather than cognitive signs. Application of similar approaches could be used with other adult-onset genetic conditions.

  18. Contribution of imaging studies and neuro physiologic investigations to the diagnosis of Huntington`s chorea; L`imagerie medicale et les explorations neuro-physiologiques dans le diagnostic de la choree de Huntington

    Energy Technology Data Exchange (ETDEWEB)

    Paquet, J.M.; Turpin, J.CI. [Centre Hospitalier Universitaire, 51 - Reims (France)

    1997-05-01

    Although Huntington`s disease was described in 1872, its diagnosis continues to rest on clinical grounds. Recently developed techniques for imaging the brain (computed tomography and magnetic resonance imaging) or studying its function (single photon emission computed tomography and positron emission tomography) have demonstrated only non specific abnormalities at the early stages of the disease, thus failing to improve the pre-symptomatic diagnosis. Neuro-physiologic investigations (evoked potentials, electromyogram, electroencephalogram) have been similarly unrewarding. Investigations are useful only as an laid to the differential diagnosis. Molecular biology technology is the only available tool for identifying high-risk individuals and establishing a definitive diagnosis of Huntington`s disease. (authors). 10 refs.

  19. Natural-Color-Image Map of Quadrangle 3262, Farah (421) and Hokumat-E-Pur-Chaman (422) Quadrangles, Afghanistan

    Science.gov (United States)

    Davis, Philip A.; Turner, Kenzie J.

    2007-01-01

    This map is a natural-color rendition created from Landsat 7 Enhanced Thematic Mapper Plus imagery collected between 1999 and 2002. The natural colors were generated using calibrated red-, green-, and blue-wavelength Landsat image data, which were correlated with red, green, and blue values of corresponding picture elements in MODIS (Moderate Resolution Imaging Spectrometer) 'true color' mosaics of Afghanistan. These mosaics have been published on http://www.truecolorearth.com and modified to match more closely the Munsell colors of sampled surfaces. Peak elevations are derived from Shuttle Radar Topography Mission (SRTM) digital data, averaged over a pixel representing an area of 85 m2, and they are slightly lower than the highest corresponding local point. Cultural data were extracted from files downloaded from the Afghanistan Information Management Service (AIMS) Web site (http://www.aims.org.af). The AIMS files were originally derived from maps produced by the Afghanistan Geodesy and Cartography Head Office (AGCHO). Cultural features were not derived from the Landsat base and consequently do not match it precisely. This map is part of a series that includes a geologic map, a topographic map, a Landsat natural-color-image map, and a Landsat false-color-image map for the USGS/AGS (U.S. Geological Survey/Afghan Geological Survey) quadrangles covering Afghanistan. The maps for any given quadrangle have the same open-file report (OFR) number but a different letter suffix, namely, -A, -B, -C, and -D for the geologic, topographic, Landsat natural-color, and Landsat false-color maps, respectively. The OFR numbers range in sequence from 1092 to 1123. The present map series is to be followed by a second series, in which the geology is reinterpreted on the basis of analysis of remote-sensing data, limited fieldwork, and library research. The second series is to be produced by the USGS in cooperation with the AGS and AGCHO.

  20. False-Color-Image Map of Quadrangle 3262, Farah (421) and Hokumat-E-Pur-Chaman (422) Quadrangles, Afghanistan

    Science.gov (United States)

    Davis, Philip A.; Turner, Kenzie J.

    2007-01-01

    This map is a false-color rendition created from Landsat 7 Enhanced Thematic Mapper Plus imagery collected between 1999 and 2002. The false colors were generated by applying an adaptive histogram equalization stretch to Landsat bands 7 (displayed in red), 4 (displayed in green), and 2 (displayed in blue). These three bands contain most of the spectral differences provided by Landsat imagery and, therefore, provide the most discrimination between surface materials. Landsat bands 4 and 7 are in the near-infrared and short-wave-infrared regions, respectively, where differences in absorption of sunlight by different surface materials are more pronounced than in visible wavelengths. Cultural data were extracted from files downloaded from the Afghanistan Information Management Service (AIMS) Web site (http://www.aims.org.af). The AIMS files were originally derived from maps produced by the Afghanistan Geodesy and Cartography Head Office (AGCHO). Cultural features were not derived from the Landsat base and consequently do not match it precisely. This map is part of a series that includes a geologic map, a topographic map, a Landsat natural-color-image map, and a Landsat false-color-image map for the USGS/AGS (U.S. Geological Survey/Afghan Geological Survey) quadrangles covering Afghanistan. The maps for any given quadrangle have the same open-file report (OFR) number but a different letter suffix, namely, -A, -B, -C, and -D for the geologic, topographic, Landsat natural-color, and Landsat false-color maps, respectively. The OFR numbers range in sequence from 1092 to 1123. The present map series is to be followed by a second series, in which the geology is reinterpreted on the basis of analysis of remote-sensing data, limited fieldwork, and library research. The second series is to be produced by the USGS in cooperation with the AGS and AGCHO.

  1. Reconnaissance geologic map of the Dubakella Mountain 15 quadrangle, Trinity, Shasta, and Tehama Counties, California

    Science.gov (United States)

    Irwin, William P.; Yule, J. Douglas; Court, Bradford L.; Snoke, Arthur W.; Stern, Laura A.; Copeland, William B.

    2011-01-01

    The Dubakella Mountain 15' quadrangle is located just south of the Hayfork quadrangle and just east of the Pickett Peak quadrangle. It spans a sequence of four northwest-trending tectonostratigraphic terranes of the Klamath Mountains geologic province that includes, from east to west, the Eastern Hayfork, Western Hayfork, Rattlesnake Creek, and Western Jurassic terranes, as well as, in the southwest corner of the quadrangle, part of a fifth terrane, the Pickett Peak terrane of the Coast Ranges geologic province. The Eastern Hayfork terrane is a broken formation and melange of volcanic and sedimentary rocks that include blocks of limestone and chert. The limestone contains late Permian microfossils of Tethyan faunal affinity. The chert contains radiolarians of Mesozoic age, mostly Triassic, but none clearly Jurassic. The Western Hayfork terrane is an andesitic volcanic arc that consists mainly of agglomerate, tuff, argillite, and chert, and includes the Wildwood pluton. That pluton is related to the Middle Jurassic (about 170 Ma) Ironside Mountain batholith that is widely exposed farther north beyond the Dubakella Mountain quadrangle. The Rattlesnake Creek terrane is a highly disrupted ophiolitic melange of probable Late Triassic or Early Jurassic age. Although mainly ophiolitic, the melange includes blocks of plutonic rocks (about 200 Ma) of uncertain genetic relation. Some scattered areas of well-bedded mildly slaty detrital rocks of the melange appear similar to Galice Formation (unit Jg) and may be inliers of the nearby Western Jurassic terrane. The Western Jurassic terrane consists mainly of slaty to phyllitic argillite, graywacke, and stretched-pebble conglomerate and is correlative with the Late Jurassic Galice Formation of southwestern Oregon. The Pickett Peak terrane, the most westerly of the succession of terranes of the Dubakella Mountain quadrangle, is mostly fine-grained schist that includes the blueschist facies mineral lawsonite and is of Early

  2. Mexican Americans and the American Nation: A Response to Professor Huntington

    Science.gov (United States)

    Telles, Edward

    2006-01-01

    This essay is based on a talk I delivered at Texas A&M University on December 10, 2005, in response to an earlier lecture at the university by Professor Samuel P. Huntington. It relies on social science evidence to first address Huntington's contention that Mexicans are overwhelming American borders. It then turns to evidence that Mexican…

  3. PROBLEMS OF MODERNIZATION IN THE WORKS OF S. HUNTINGTON: THEORY AND PRACTICE

    Directory of Open Access Journals (Sweden)

    Britikova E. A.

    2016-06-01

    Full Text Available The article discusses the interpretation of the mechanisms of modernization of the American scientist - Samuel Huntington, which sees modernization as a complex process with a very uncertain result. As a representative of the multilinear approach, Samuel Huntington proves the uniqueness of the modernization paths of each individual national system

  4. 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

    2004-01-01

    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…

  5. Geologic map of the Mound Spring quadrangle, Nye and Clark Counties, Nevada, and Inyo County, California

    Science.gov (United States)

    Lundstrom, Scott C.; Mahan, Shannon; Blakely, Richard J.; Paces, James B.; Young, Owen D.; Workman, Jeremiah B.; Dixon, Gary L.

    2003-01-01

    The Mound Spring quadrangle, the southwestern-most 7.5' quadrangle of the area of the Las Vegas 1:100,000-scale quadrangle, is entirely within the Pahrump Valley, spanning the Nevada/California State line. New geologic mapping of the predominantly Quaternary materials is combined with new studies of gravity and geochronology in this quadrangle. Eleven predominantly fine-grained units are delineated, including playa sediment, dune sand, and deposits associated with several cycles of past groundwater discharge and distal fan sedimentation. These units are intercalated with 5 predominantly coarse-grained alluvial-fan and wash gravel units mainly derived from the Spring Mountains. The gravel units are distinguished on the basis of soil development and associated surficial characteristics. Thermoluminescence and U-series geochronology constrain most of the units to the Holocene and late and middle Pleistocene. Deposits of late Pleistocene groundwater discharge in the northeast part of the quadrangle are associated with a down-to-the-southwest fault zone that is expressed by surface fault scarps and a steep gravity gradient. The gravity field also defines a northwest-trending uplift along the State line, in which the oldest sediments are poorly exposed. About 2 km to the northeast a prominent southwest-facing erosional escarpment is formed by resistant beds in middle Pleistocene fine-grained sediments that dip northeast away from the uplift. These sediments include cycles of groundwater discharge that were probably caused by upwelling of southwesterly groundwater flow that encountered the horst.

  6. Geologic Map of the Needles 7.5' Quadrangle, California and Arizona

    Science.gov (United States)

    Malmon, Daniel V.; Howard, Keith A.; Priest, Susan S.

    2009-01-01

    The Needles 7.5' quadrangle straddles the Colorado River in the southern part of the Mohave Valley, in Mohave County, Arizona, and San Bernardino County, California. The quadrangle contains part of the Havasu National Wildlife Refuge, sections of the Fort Mojave Indian Reservation, most of the city of Needles, and several major interstate highways and railroads. The quadrangle is underlain by structurally undeformed sediments of Pliocene and younger age that were deposited by the Colorado River, as well as alluvial fan deposits on the piedmonts that flank the Black Mountains (in Arizona) and the Sacramento Mountains (in California). Multiple cycles of aggradation of the Colorado River, each followed by episodes of downcutting, are recorded by Pliocene through historic deposits on the piedmonts that border the floodplain. Regionally, the complex stratigraphy related to the Colorado River has been the subject of geologic interest for over 150 years. The California and Arizona piedmont portions of the Needles quadrangle expose a subset of this incompletely understood stratigraphic record. Thus, the stratigraphic sequence presented on this map is a version of the stratigraphy of the Colorado River as interpreted locally. The deposits in the recently active Colorado River valley floor support riparian habitat and irrigated agriculture. The distributions of sand-rich channel deposits and mud-rich floodplain deposits in the valley are mapped on the basis of the history of the movement of the Colorado River in the quadrangle, which has been documented in sequential aerial photographs since 1937 and maps dating to 1857.

  7. Geologic map of the White Hall quadrangle, Frederick County, Virginia, and Berkeley County, West Virginia

    Science.gov (United States)

    Doctor, Daniel H.; Orndorff, Randall C.; Parker, Ronald A.; Weary, David J.; Repetski, John E.

    2010-01-01

    The White Hall 7.5-minute quadrangle is located within the Valley and Ridge province of northern Virginia and the eastern panhandle of West Virginia. The quadrangle is one of several being mapped to investigate the geologic framework and groundwater resources of Frederick County, Va., as well as other areas in the northern Shenandoah Valley of Virginia and West Virginia. All exposed bedrock outcrops are clastic and carbonate strata of Paleozoic age ranging from Middle Cambrian to Late Devonian. Surficial materials include unconsolidated alluvium, colluvium, and terrace deposits of Quaternary age, and local paleo-terrace deposits possibly of Tertiary age. The quadrangle lies across the northeast plunge of the Great North Mountain anticlinorium and includes several other regional folds. The North Mountain fault zone cuts through the eastern part of the quadrangle; it is a series of thrust faults generally oriented northeast-southwest that separate the Silurian and Devonian clastic rocks from the Cambrian and Ordovician carbonate rocks and shales. Karst development in the quadrangle occurs in all of the carbonate rocks. Springs occur mainly near or on faults. Sinkholes occur within all of the carbonate rock units, especially where the rocks have undergone locally intensified deformation through folding, faulting, or some combination.

  8. Huntington disease and Huntington disease-like in a case series from Brazil.

    Science.gov (United States)

    Castilhos, R M; Souza, A F D; Furtado, G V; Gheno, T C; Silva, A L; Vargas, F R; Lima, M-A F D; Barsottini, O; Pedroso, J L; Godeiro, C; Salarini, D; Pereira, E T; Lin, K; Toralles, M-B; Saute, J A M; Rieder, C R; Quintas, M; Sequeiros, J; Alonso, I; Saraiva-Pereira, M L; Jardim, L B

    2014-10-01

    The aim of this study was to identify the relative frequency of Huntington's disease (HD) and HD-like (HDL) disorders HDL1, HDL2, spinocerebellar ataxia type 2 (SCA2), SCA17, dentatorubral-pallidoluysian degeneration (DRPLA), benign hereditary chorea, neuroferritinopathy and chorea-acanthocytosis (CHAC), in a series of Brazilian families. Patients were recruited in seven centers if they or their relatives presented at least chorea, besides other findings. Molecular studies of HTT, ATXN2, TBP, ATN1, JPH3, FTL, NKX2-1/TITF1 and VPS13A genes were performed. A total of 104 families were ascertained from 2001 to 2012: 71 families from South, 25 from Southeast and 8 from Northeast Brazil. There were 93 HD, 4 HDL2 and 1 SCA2 families. Eleven of 104 index cases did not have a family history: 10 with HD. Clinical characteristics were similar between HD and non-HD cases. In HD, the median expanded (CAG)n (range) was 44 (40-81) units; R(2) between expanded HTT and age-at-onset (AO) was 0.55 (p=0.0001, Pearson). HDL2 was found in Rio de Janeiro (2 of 9 families) and Rio Grande do Sul states (2 of 68 families). We detected HD in 89.4%, HDL2 in 3.8% and SCA2 in 1% of 104 Brazilian families. There were no cases of HDL1, SCA17, DRPLA, neuroferritinopathy, benign hereditary chorea or CHAC. Only six families (5.8%) remained without diagnosis.

  9. Measurement of caudate nucleus area - a more accurate measurement for Huntington's disease

    Energy Technology Data Exchange (ETDEWEB)

    Wardlaw, J.M.; Abernethy, L.J. (Royal Infirmary, London (United Kingdom). Dept. of Radiology); Sellar, R.J. (Western General Hospital, Edinburgh (United Kingdom). Dept. of Neuroradiology)

    1991-08-01

    Caudate nucleus atrophy occurs in Huntington's disease and methods of measuring this have been described using axial CT, but these are indirect and lack sensitivity. We measured caudate nucleus area (blind to the subjects' clinical state) in 30 subjects with or at risk of Huntington's disease, and in 100 normal age matched controls. Fifteen subjects with established symptomatic Huntington's disease, 3 with early symptoms, and 3 presymptomatic subjects (2 showing a high probability for the Huntington's disease gene on genetic testing, and one who has since developed symptoms) were correctly identified. Three normal (gene negative) family members were also correctly identified. Outcome is awaited in 6. CT caudate area measurement is simple and reproducible and we have found it to be a useful confirmatory test for Huntington's disease. (orig.).

  10. Clinical and counselling implications of preimplantation genetic diagnosis for Huntington's disease in the UK.

    Science.gov (United States)

    Lashwood, A; Flinter, F

    2001-01-01

    Huntington's disease is an autosomal dominant neurodegenerative disorder that usually occurs in adult life. Individuals at risk can have a gene test before the onset of symptoms, and prenatal diagnosis is available. Preimplantation genetic diagnosis (PGD) for Huntington's disease is now available for couples in whom one partner has the gene for Huntington's disease. A licence to practise PGD is required from the Human Fertilisation and Embryology Authority, and there are several complex issues relating to PGD for Huntington's disease that require consideration. The partner of the Huntington's disease gene carrier should have a presymptomatic test to ensure accuracy in a PGD cycle. There should be a delay between blood sampling and testing for Huntington's disease to allow time for reflection and withdrawal from testing. All PGD treatment has an associated risk of misdiagnosis. If confirmatory prenatal testing is not undertaken after a successful PGD cycle, no confirmation of diagnosis will be obtained at birth. Guidelines indicate that individuals who are at risk cannot be tested before 18 years. There is concern over the ability of a child or adolescent to make an informed choice about testing before this age. Confirmatory testing at birth after PGD would be in direct contravention of these guidelines. In the UK, the law requires consideration of the welfare of children born after assisted conception treatment. Presenting symptoms of Huntington's disease may affect the parenting abilities of an affected individual. There is a need for an assessment of a patient's current Huntington's disease status and their planned provision of care of children if Huntington's disease affects parenting. It has been necessary to create a detailed working protocol for the management of PGD for Huntington's disease to address these issues.

  11. Playa Lakes

    Data.gov (United States)

    Kansas Data Access and Support Center — This digital dataset provides information about the spatial distribution of soil units associated with playa lakes. Specific soil types have been designated by the...

  12. Geologic map of the Nelson quadrangle, Lewis and Clark County, Montana

    Science.gov (United States)

    Reynolds, Mitchell W.; Hays, William H.

    2003-01-01

    The geologic map of the Nelson quadrangle, scale 1:24,000, was prepared as part of the Montana Investigations Project to provide new information on the stratigraphy, structure, and geologic history of an area in the geologically complex southern part of the Montana disturbed belt. In the Nelson area, rocks ranging in age from Middle Proterozoic through Cretaceous are exposed on three major thrust plates in which rocks have been telescoped eastward. Rocks within the thrust plates are folded and broken by thrust faults of smaller displacement than the major bounding thrust faults. Middle and Late Tertiary sedimentary and volcaniclastic rocks unconformably overlie the pre-Tertiary rocks. A major normal fault displaces rocks of the western half of the quadrangle down on the west with respect to strata of the eastern part. Alluvial and terrace gravels and local landslide deposits are present in valley bottoms and on canyon walls in the deeply dissected terrain. Different stratigraphic successions are exposed at different structural levels across the quadrangle. In the northeastern part, strata of the Middle Cambrian Flathead Sandstone, Wolsey Shale, and Meagher Limestone, the Middle and Upper Cambrian Pilgrim Formation and Park Shale undivided, the Devonian Maywood, Jefferson, and lower part of the Three Forks Formation, and Lower and Upper Mississippian rocks assigned to the upper part of the Three Forks Formation and the overlying Lodgepole and Mission Canyon Limestones are complexly folded and faulted. These deformed strata are overlain structurally in the east-central part of the quadrangle by a succession of strata including the Middle Proterozoic Greyson Formation and the Paleozoic succession from the Flathead Sandstone upward through the Lodgepole Limestone. In the east-central area, the Flathead Sandstone rests unconformably on the middle part of the Greyson Formation. The north edge, northwest quarter, and south half of the quadrangle are underlain by a

  13. Topographically Derived Maps of Valley Networks and Drainage Density in the Mare Tyrrhenum Quadrangle on Mars

    Science.gov (United States)

    Luo, W.; Stepinski, T. F.

    2006-12-01

    A novel, automated technique for delineating Martian valley networks from digital terrain data is applied to the Mare Tyrrhenum quadrangle on Mars, yielding a detailed map for the entire quadrangle. The resultant average value of drainage density for the Noachian part of the quadrangle is D ~ 0.05 km-1, an order of magnitude higher than the value inferred from a global map based on Viking images, and comparable to the values inferred from the precision mapping of selected focus sites. Valleys are omnipresent in Noachian terrain even outside the "highly dissected" Npld unit. This suggests fluvial erosion throughout the Noachian, implying widespread precipitation. The map of continuous drainage density is constructed to study spatial variations of D. This map reveals significant variations in degree of dissection in Noachian on scale of > 100 km. These variations do not correlate with any terrain parameter and their origin requires further study.

  14. Aerial gamma ray and magnetic survey: Uncompahgre Uplift Project, Montrose Quadrangle, Colorado. Final report

    Energy Technology Data Exchange (ETDEWEB)

    None

    1979-04-01

    The quadrangle includes portions of the Colorado Plateau and southern Rocky Mountains Physiographic Provinces. The entire area of the Gunnison Uplift and parts of the Uncompahgre and Sawatch Uplifts are included. A part of the Piceance Basin and a segment of the Rio Grande Rift Valley are also included. A basement complex of Precambrian metamorphic and igneous rocks is exposed in the core of the Gunnison and Sawatch Uplifts in the Southern Rocky Mountains. Jurassic and Cretaceous age sedimentary rocks lie directly on the Precambrian basement in most places. They lie on Paleozoic rocks at the west edge of the Sawatch Uplift in the north-central part of the quadrangle. Triassic beds are mapped only in the canyon of the Uncompahgre River near the southwest corner of the quadrangle. A suite of Tertiary volcanics and some sedimentary rocks occupy extensive areas. Plutonic rocks of Tertiary and laramide age occupy only a small part of the quadrangle. The literature consulted included information on about 100 separate occurrences of radioactive minerals and/or anomalous radioactivity within the quadrangle. Many fracture and stratigraphically controlled forms are reported. Most of these occurrences are clustered in three areas: Cochetopa Creek, Cebolla Creek, and Marshall Pass. Important uranium production is recorded from deposits in the Cochetopa Creek and Marshall Pass areas. A total of 220 anomalies in the uranium channel meet the minimum requirements as defined in the Interpretation methods section of Volume I of this report. A few of them appear to be related to known economic deposits, and provide examples for comparison with anomalies in other parts of the quadrangle where radioactive mineral occurrences have not been reported.

  15. Bedrock geologic map of the Worcester South quadrangle, Worcester County, Massachusetts

    Science.gov (United States)

    Walsh, Gregory J.; Merschat, Arthur J.

    2015-09-29

    The bedrock geology of the 7.5-minute Worcester South quadrangle, Massachusetts, consists of deformed Neoproterozoic to Paleozoic crystalline metamorphic and intrusive igneous rocks in three fault-bounded terranes (zones), including the Avalon, Nashoba, and Merrimack zones (Zen and others, 1983). This quadrangle spans the easternmost occurrence of Ganderian margin arc-related rocks (Nashoba zone) in the southern New England part of the northern Appalachians, and coincides with the trailing edge of Ganderia (Merrimack and Nashoba zones) where it structurally overlies Avalonia (Hibbard and others, 2006; Pollock and others, 2012; van Staal and others, 2009, 2012).

  16. Geologic map of the Stephens City quadrangle, Clark, Frederick, and Warren Counties, Virginia

    Science.gov (United States)

    Weary, D.J.; Orndorff, R.C.; Aleman-Gonzalez, W.

    2006-01-01

    The Stephens City 1:24,000-scale quadrangle is one of several quadrangles in Frederick County, Virginia being mapped by geologists from the U.S. Geological Survey in Reston, VA with funding from the National Cooperative Geologic Mapping Program. This work is part of a project being lead by the U.S. Geological Survey Water Resources Discipline, Virginia District, to investigate the geologic framework and groundwater resources of Frederick County as well as other areas in the northern Shenandoah Valley of Virginia and West Virginia.

  17. Conodont and Radiolarian Data from the De Long Mountains Quadrangle and Adjacent Areas, Northern Alaska

    Science.gov (United States)

    Dumoulin, Julie A.; Harris, Anita G.; Blome, Charles D.; Young, Lorne E.

    2006-01-01

    INTRODUCTION This report presents biostratigraphic data from 289 collections at 189 localities in the De Long Mountains, Misheguk Mountain, and Noatak quadrangles (fig. 1); most of these data have never been previously published. The collections were made during studies of the Red Dog massive sulfide deposit in 1998?2004 and in support of regional mapping projects in 1979, 1981, 1983, and 1997?98. The collections?mostly conodonts and some radiolarians?tightly constrain the age of many stratigraphic units of Devonian through Triassic age exposed within the study area, and provide additional data on the depositional environments and thermal history of these rocks. The data are presented in a series of tables, organized by fossil type, stratigraphic unit, and location. Tables 1?12 contain conodont data, mostly from the De Long Mountains quadrangle. All of these collections were initially examined, or were reevaluated, from 1997 through 2004, and complete faunal lists are given for all samples. Table 13 lists ages and conodont color alteration indices (CAIs) of 27 collections from 24 localities in the Noatak quadrangle; updated faunal lists were not prepared for these samples. Radiolarian data?all from the De Long Mountains quadrangle?are given in table 14; these collections were analyzed between 1998 and 2003. Collection localities are shown in four maps (sheets 1, 2). Map 1 (sheet 1) shows all outcrop samples from the De Long Mountains and western Misheguk Mountain quadrangle (locs. 1-121). Maps 2?4 (sheets 1, 2) show all drill hole sample localities; samples come from the Su-Lik deposit and in and around the Anarraaq deposit (map 2, locs. 122?135), in and adjacent to the Red Dog deposits (Paalaaq, Aqqaluk, Main, and Qanaiyaq) (map 3, locs. 136?158), and from drill holes along the Port Road in the Noatak quadrangle (map 4, locs. 159?160). Map 4 (sheet 2) also shows all outcrop samples from the Noatak quadrangle (locs. 161?189). The text summarizes the lithofacies

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

    Science.gov (United States)

    Pagano, Gennaro; Niccolini, Flavia; Politis, Marios

    2016-06-01

    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]H2O), 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 in HD.

  19. El trabajo interdisciplinar en la enfermedad de Huntington

    OpenAIRE

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

    2014-01-01

    Se argumenta la importancia del trabajo en equipo en la atención de las personas afectadas por la Enfermedad de Huntington y de sus familias, y se describen las principales funciones de los distintos profesionales que han de cubrir sus necesidades en cada una de las etapas de la enfermedad en función de las alteraciones y secuelas. Siguiendo esta premisa, se presenta el trabajo de intervención basado en la complementariedad de distintos profesionales que atienden y cuidan a las personas afect...

  20. ENFERMEDAD DE HUNTINGTON: MODELOS EXPERIMENTALES Y PERSPECTIVAS TERAPÉUTICAS

    OpenAIRE

    TERESA SERRANO SÁNCHEZ; LISETTE BLANCO LEZCANO; ROCÍO GARCÍA MINET; ESTEBAN ALBERTI AMADOR; IVÁN DÍAZ ARMESTO; NANCY PAVÓN FUENTE; LOURDES LORIGADOS PEDRE; MARÍA ELENA GONZÁLEZ FRAGUELA; JORGE FELIPE MONTERO LEÓN; LISIS MARTÍNEZ MARTÍ; MARÍA DE LOS ANGELES ROBINSON AGRAMONTE; LILIANA FRANCIS TURNER

    2011-01-01

    La enfermedad de Huntington (EH) es un trastorno degenerativo de Weiss de origen hereditario. Hasta el momento no existe un tratamiento efectivo para la enfermedad que inexorablemente después de transcurridos 15 a 20 años, evoluciona hacia incapa- cidad total o muerte. En este trabajo se revisan las características clínicas y morfológicas de la EH y los modelos experimentales más utilizados para su estudio tomando como fuente, artículos indexados en la base de datos Medline publicados en los ...

  1. Huntington's disease as caused by 34 CAG repeats.

    Science.gov (United States)

    Andrich, Jürgen; Arning, Larissa; Wieczorek, Stefan; Kraus, Peter H; Gold, Ralf; Saft, Carsten

    2008-04-30

    Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused by an abnormal expansion of a polymorphic stretch of CAG repeats in the coding 5' part of the HD gene on chromosome 4p. Expansions of CAG blocks beyond 35 repeats are associated with the clinical presentation of HD. There is an intermediate range of rare alleles between 27 and 35 CAG repeats with a higher risk for further expansion in subsequent generations. Here, we report a 75-year-old male with clinical features of HD and 34 CAG repeat units.

  2. Polyglutamine Aggregation in Huntington Disease: Does Structure Determine Toxicity?

    Science.gov (United States)

    Hoffner, Guylaine; Djian, Philippe

    2015-12-01

    Huntington disease is a dominantly inherited disease of the central nervous system. The mutational expansion of polyglutamine beyond a critical length produces a toxic gain of function in huntingtin and results in neuronal death. In the course of the disease, expanded huntingtin is proteolyzed, becomes abnormally folded, and accumulates in oligomers, fibrils, and microscopic inclusions. The aggregated forms of the expanded protein are structurally diverse. Structural heterogeneity may explain why polyglutamine-containing aggregates could paradoxically be either toxic or neuroprotective. When defined, the toxic structures could then specifically be targeted by prophylactic or therapeutic drugs aimed at inhibiting polyglutamine aggregation.

  3. 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...... 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....

  4. The Cambridge MRI database for animal models of Huntington disease.

    Science.gov (United States)

    Sawiak, Stephen J; Morton, A Jennifer

    2016-01-01

    We describe the Cambridge animal brain magnetic resonance imaging repository comprising 400 datasets to date from mouse models of Huntington disease. The data include raw images as well as segmented grey and white matter images with maps of cortical thickness. All images and phenotypic data for each subject are freely-available without restriction from (http://www.dspace.cam.ac.uk/handle/1810/243361/). Software and anatomical population templates optimised for animal brain analysis with MRI are also available from this site.

  5. Geologic Map of the Helen Planitia Quadrangle (V-52), Venus

    Science.gov (United States)

    Lopez, Ivan; Hansen, Vicki L.

    2008-01-01

    The Magellan spacecraft orbited Venus from August 10, 1990, until it plunged into the Venusian atmosphere on October 12, 1994. Magellan Mission objectives included (1) improving the knowledge of the geological processes, surface properties, and geologic history of Venus by analysis of surface radar characteristics, topography, and morphology and (2) improving the knowledge of the geophysics of Venus by analysis of Venusian gravity. The Helen Planitia quadrangle (V-52), located in the southern hemisphere of Venus between lat 25 deg S. and 50 deg S. and between long 240 deg E. and 270 deg E., covers approximately 8,000,000 km2. Regionally, the map area is located at the southern limit of an area of enhanced tectonomagmatic activity and extensional deformation, marked by a triangle that has highland apexes at Beta, Atla, and Themis Regiones (BAT anomaly) and is connected by the large extensional belts of Devana, Hecate, and Parga Chasmata. The BAT anomaly covers approximately 20 percent of the Venusian surface.

  6. Mutant Huntingtin Does Not Affect the Intrinsic Phenotype of Human Huntington's Disease T Lymphocytes.

    Science.gov (United States)

    Miller, James R C; Träger, Ulrike; Andre, Ralph; Tabrizi, Sarah J

    2015-01-01

    Huntington's disease is a fatal neurodegenerative condition caused by a CAG repeat expansion in the huntingtin gene. The peripheral innate immune system is dysregulated in Huntington's disease and may contribute to its pathogenesis. However, it is not clear whether or to what extent the adaptive immune system is also involved. Here, we carry out the first comprehensive investigation of human ex vivo T lymphocytes in Huntington's disease, focusing on the frequency of a range of T lymphocyte subsets, as well as analysis of proliferation, cytokine production and gene transcription. In contrast to the innate immune system, the intrinsic phenotype of T lymphocytes does not appear to be affected by the presence of mutant huntingtin, with Huntington's disease T lymphocytes exhibiting no significant functional differences compared to control cells. The transcriptional profile of T lymphocytes also does not appear to be significantly affected, suggesting that peripheral immune dysfunction in Huntington's disease is likely to be mediated primarily by the innate rather than the adaptive immune system. This study increases our understanding of the effects of Huntington's disease on peripheral tissues, while further demonstrating the differential effects of the mutant protein on different but related cell types. Finally, this study suggests that the potential use of novel therapeutics aimed at modulating the Huntington's disease innate immune system should not be extended to include the adaptive immune system.

  7. Mutant Huntingtin Does Not Affect the Intrinsic Phenotype of Human Huntington's Disease T Lymphocytes.

    Directory of Open Access Journals (Sweden)

    James R C Miller

    Full Text Available Huntington's disease is a fatal neurodegenerative condition caused by a CAG repeat expansion in the huntingtin gene. The peripheral innate immune system is dysregulated in Huntington's disease and may contribute to its pathogenesis. However, it is not clear whether or to what extent the adaptive immune system is also involved. Here, we carry out the first comprehensive investigation of human ex vivo T lymphocytes in Huntington's disease, focusing on the frequency of a range of T lymphocyte subsets, as well as analysis of proliferation, cytokine production and gene transcription. In contrast to the innate immune system, the intrinsic phenotype of T lymphocytes does not appear to be affected by the presence of mutant huntingtin, with Huntington's disease T lymphocytes exhibiting no significant functional differences compared to control cells. The transcriptional profile of T lymphocytes also does not appear to be significantly affected, suggesting that peripheral immune dysfunction in Huntington's disease is likely to be mediated primarily by the innate rather than the adaptive immune system. This study increases our understanding of the effects of Huntington's disease on peripheral tissues, while further demonstrating the differential effects of the mutant protein on different but related cell types. Finally, this study suggests that the potential use of novel therapeutics aimed at modulating the Huntington's disease innate immune system should not be extended to include the adaptive immune system.

  8. Presymptomatic testing for Huntington's disease: a world wide survey. The World Federation of Neurology Research Group on Huntington's Disease.

    OpenAIRE

    1993-01-01

    World wide data on presymptomatic testing for Huntington's disease using closely linked DNA markers show that 1479 persons at risk received completed test results up to the end of 1991. Testing has been carried out in 19 countries, with at least 88 centres involved, and numbers have levelled off after a peak in 1990. Only 5% of those at risk have been tested in six countries with the longest established programmes. Continued monitoring of international data will be of value in assessing the s...

  9. Polymorphisms in the CAG repeat--a source of error in Huntington disease DNA testing.

    Science.gov (United States)

    Yu, S; Fimmel, A; Fung, D; Trent, R J

    2000-12-01

    Five of 400 patients (1.3%), referred for Huntington disease DNA testing, demonstrated a single allele on CAG alone, but two alleles when the CAG + CCG repeats were measured. The PCR assay failed to detect one allele in the CAG alone assay because of single-base silent polymorphisms in the penultimate or the last CAG repeat. The region around and within the CAG repeat sequence in the Huntington disease gene is a hot-spot for DNA polymorphisms, which can occur in up to 1% of subjects tested for Huntington disease. These polymorphisms may interfere with amplification by PCR, and so have the potential to produce a diagnostic error.

  10. Geologic map of the Vancouver and Orchards quadrangles and parts of the Portland and Mount Tabor quadrangles, Clark County, Washington, and Multnomah County, Oregon

    Science.gov (United States)

    O'Connor, Jim E.; Cannon, Charles M.; Mangano, Joseph F.; Evarts, Russell C.

    2016-06-03

    IntroductionThis is a 1:24,000-scale geologic map of the Vancouver and Orchards quadrangles and parts of the Portland and Mount Tabor quadrangles in the States of Washington and Oregon. The map area is within the Portland Basin and includes most of the city of Vancouver, Washington; parts of Clark County, Washington; and a small part of northwestern Multnomah County, Oregon. The Columbia River flows through the southern part of the map area, generally forming the southern limit of mapping. Mapped Quaternary geologic units include late Pleistocene cataclysmic flood deposits, eolian deposits, and alluvium of the Columbia River and its tributaries. Older deposits include Miocene to Pleistocene alluvium from an ancestral Columbia River. Regional geologic structures are not exposed in the map area but are inferred from nearby mapping.

  11. Presymptomatic diagnosis in Huntington's disease: the Mexican experience.

    Science.gov (United States)

    Alonso, Maria Elisa; Ochoa, Adriana; Sosa, Ana Luisa; Rodríguez, Yaneth; Chávez, Mireya; Boll, Catherine; Yescas, Petra; Macías, Rosario; Rasmussen, Astrid

    2009-12-01

    Huntington's disease (HD) is an autosomal dominant progressive, disabling neurodegenerative disorder, for which there is no effective treatment. Predictive testing (PT) for this illness began in 1986 and by 1993 it became more precise after cloning of the gene and the discovery of a CAG repeat expansion as the underlying cause. The objective of this paper is to illustrate the implementation and results of a PT program in a group of at-risk Mexican individuals with 12 years of follow-up. Our PT program conforms to the guidelines proposed by the International Huntington Association and the HD Working group of the World Federation of Neurology. Seventy-five individuals requested the testing, four of them did not fulfill the inclusion criteria, and five abandoned the program voluntarily before receiving the test results. Therefore, 66 results were delivered to 41 noncarriers and 25 mutation carriers. We did not have any catastrophic event, but 4 individuals with normal results and 11 mutation carriers were depressed. Even if this is a small sample, it is the first report of PT in a Latin-American population in which we have been faced with the same problems referred to in larger series.

  12. Pluripotent Stem Cells Models for Huntington's Disease: Prospects and Challenges

    Institute of Scientific and Technical Information of China (English)

    Richard L. Carter; Anthony W.S. Chan

    2012-01-01

    Pluripotent cellular models have shown great promise in the study of a number of neurological disorders.Several advantages of using a stem cell model include the potential for cells to derive disease relevant neuronal cell types,providing a system for researchers to monitor disease progression during neurogenesis,along with serving as a platform for drug discovery.A number of stem cell derived models have been employed to establish in vitro research models of Huntington's disease that can be used to investigate cellular pathology and screen for drug and cell-based therapies.Although some progress has been made,there are a number of challenges and limitations that must be overcome before the true potential of this research strategy is achieved,In this article we review current stem cell models that have been reported,as well as discuss the issues that impair these studies.We also highlight the prospective application of Huntington's disease stem cell models in the development of novel therapeutic strategies and advancement of personalized medicine.

  13. Progress in studies of gene therapy for Huntington's disease

    Directory of Open Access Journals (Sweden)

    JIN Fan-ying

    2012-06-01

    Full Text Available Huntington's disease (HD is a kind of inherited neurodegenerative disorder characterized by movement problems, cognitive decline and psychiatry disturbance. HD is caused by mutation in gene IT -15 involving the expansion of a trinucleotide (CAG repeat encoding glutamine, which leads to abnormal conformation of huntingtin (Htt protein and finally emerge cytotoxic functions. Currently, HD remains a fatal untreatable disease. Gene therapy for HD discussed in this review is under preclinical studies. Silencing of mutant IT-15 via RNA interference (RNAi or antisense oligonucleotide (ASO has shown some effectiveness in mouse model studies. Increasing the clearance of mutant Htt protein could be achieved by viral-mediated delivery of anti-Htt intrabodies (iAbs or induction of autophagy, and beneficial results have been observed. Ectopic expression of neurotrophic factors, such as nerve growth factor (NGF and brain-derived neurotrophic factor (BDNF, mediated either by viral vectors or transplantation of genetically modified cells, has also been proved to be effective. Other gene-modifying methods aiming at correction of transcriptional dysregulation by histone modification, activation of endogenous neural stem cells, and normalization of calcium signaling and mitochondrial function, are also under intensive research. Gene therapy for Huntington's disease is promising, yet a long way remains from preclinical studies to clinical trials.

  14. Clinical diagnosis and management in early Huntington's disease: a review

    Directory of Open Access Journals (Sweden)

    Schiefer J

    2015-03-01

    Full Text Available Johannes Schiefer,1,* Cornelius J Werner,1,* Kathrin Reetz1,2 1Euregional Huntington Center, 2Jülich Aachen Research Alliance (JARA – Translational Brain Medicine, Department of Neurology, RWTH Aachen University, Aachen, Germany *These authors contributed equally to this work Abstract: This review focuses on clinical diagnosis and both pharmacological and nonpharmacological therapeutic options in early stages of the autosomal dominant inherited neurodegenerative Huntington's disease (HD. The available literature has been reviewed for motor, cognitive, and psychiatric alterations, which are the three major symptom domains of this devastating progressive disease. From a clinical point of view, one has to be aware that the HD phenotype can vary highly across individuals and during the course of the disease. Also, symptoms in juvenile HD can differ substantially from those with adult-onset of HD. Although there is no cure of HD and management is limited, motor and psychiatric symptoms often respond to pharmacotherapy, and nonpharmacological approaches as well as supportive care are essential. International treatment recommendations based on study results, critical statements, and expert opinions have been included. This review is restricted to symptomatic and supportive approaches since all attempts to establish a cure for the disease or modifying therapies have failed so far. Keywords: Neurodegeneration, clinical picture, early symptoms, therapy, treatment

  15. Ethical considerations of genetic presymptomatic testing for Huntington's disease.

    Science.gov (United States)

    Coustasse, Alberto; Pekar, Alicia; Sikula, Andrew; Lurie, Sue

    2009-01-01

    The aim of this literature review was to determine if there is adequate ethical justification for presymptomatic genetic testing on potential Huntington's disease patients. Huntington's disease is a neurological genetic disorder characterized by midlife onset which consists of cognitive, physical, and emotional deterioration. Although genetic testing has traditionally been guided by the principle of autonomy, severe psychological consequences such as depression, anxiety, survival guilt, and suicide have complicated the ethical issue of providing a presymptomatic yet definitive diagnosis for an incurable disease. An analysis of available articles yielded inconclusive findings, namely due to insufficient evidence, self-selection bias of test participants, or lack of a longitudinal design. Additional results indicated psychological distress is not solely associated with test result, but rather with individual characteristics including, but not limited to, psychological history, test motivation, level of preparation, social support, and age. In the interest of upholding the principles of autonomy, beneficence, nonmaleficence, and justice, it is recommended that medical professionals follow strict protocol, provide extensive counseling, and employ vigilance when assessing at-risk individuals for HD presymptomatic test eligibility to ensure psychological well-being.

  16. Comprehensive care in Huntington's disease: a physician's perspective.

    Science.gov (United States)

    Nance, Martha A

    2007-04-30

    Huntington's disease is a slowly progressive neurodegenerative disorder with wide-ranging effects on affected individuals and their families. Until a cure is found for the disease, patients and their families will continue to need care over years, even generations. The ideal care for HD is provided by a team, led by a physician, with input from rehabilitation therapists, nurses, psychologists, genetic counselors, social workers, and other health care providers. The goals of care are to maximize the quality of life at all points through the course of the disease, in part by anticipating problems that are likely to arise at the next stage of the illness. We describe below an approach to comprehensive care, and introduce the concept of the "Huntington disease molecule", in which the patient, in the center, is surrounded by a shell of immediate and extended family members, with bonds extended in multiple directions to provider who can give appropriate medical care, education, crisis management, research opportunities, address family issues, maximize function, and prepare for the future.

  17. Deep brain stimulation in Huntington's disease: assessment of potential targets.

    Science.gov (United States)

    Sharma, Mayur; Deogaonkar, Milind

    2015-05-01

    Huntington's disease (HD) is an autosomal-dominant neurodegenerative disorder that has very few effective therapeutic interventions. Since the disease has a defined neural circuitry abnormality, neuromodulation could be an option. Case reports, original research, and animal model studies were selected from the databases of Medline and PubMed. All related studies published up to July 2014 were included in this review. The following search terms were used: "Deep brain stimulation," "DBS," "thalamotomy," "pallidal stimulation," and "Huntington's Disease," "HD," "chorea," or "hyperkinetic movement disorders." This review examines potential nodes in the HD circuitry that could be modulated using deep brain stimulation (DBS) therapy. With rapid evolution of imaging and ability to reach difficult targets in the brain with refined DBS technology, some phenotypes of HD could potentially be treated with DBS in the near future. Further clinical studies are warranted to validate the efficacy of neuromodulation and to determine the most optimal target for HD. Copyright © 2014 Elsevier Ltd. All rights reserved.

  18. Functional impairment of precerebral arteries in Huntington disease.

    Science.gov (United States)

    Kobal, Jan; Cankar, Ksenija; Pretnar, Janja; Zaletel, Marjan; Kobal, Lucijan; Teran, Natasa; Melik, Ziva

    2017-01-15

    Cardiovascular pathology of Huntington disease (HD) appears to be complex; while microvascular dysfunction seems to appear early, deaths from cardiomyopathy and stroke might occur in the late phase of HD. Our study evaluated global risk factors for coronary heart disease (CHD), structure and function of precerebral arteries in 41 HD subjects and 41 matched controls. HD subjects were divided into groups by the United Huntington disease rating scale (presymptomatic-PHD, early-EHD, midstage-MHD and late-LHD). CHD risk factors assessment and Doppler examination of precerebral arteries were performed, including measurements of the carotid artery intima-media thickness (IMT), and parameters indicating local carotid artery distensibility (stiffness index β, pulse wave velocity, pressure strain elasticity module and carotid artery compliance). In the HD and controls we identified a comparable number of non-obstructive plaques (50% lumen narrowing) were found. There was significantly increased IMT in MHD. In PHD and EHD the parameters of arterial stiffness were significantly higher and the carotid artery compliance was significantly lower. Our results reveal functional vascular pathology in PHD, EHD, and MHD. Precerebral arteries dysfunction in HD therefore appears to be mostly functional and in agreement with recently described autonomic nervous system changes in HD. Copyright © 2016 Elsevier B.V. All rights reserved.

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

    Science.gov (United States)

    Bouhouche, Ahmed; Regragui, Wafaa; Lamghari, Hind; Khaldi, Khadija; Birouk, Nazha; Lytim, Safaa; Bellamine, Soufiane; Kriouile, Yamna; Bouslam, Naima; Haddou, El Hachmia Ait Ben; Faris, Mustapha Alaoui; Benomar, Ali; Yahyaoui, Mohamed

    2015-12-01

    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. Clinical and genetics data of 21 consecutive patients recruited from 2009 to 2014 from the outpatient clinic of six medical centers were analyzed. Statistical analysis was performed using descriptive statistics. Twenty one patients from 17 families were diagnosed positive for the IT15 gene CAG expansion. Clinical symptoms were predominantly motor (19/21). Twelve patients had psychiatric and behavioral disorders, and 11 patients had cognitive disorders essentially of memory impairment. Analysis of genetic results showed that 5 patients had reduced penetrant (RP) alleles and 16 had fully penetrant (FP) alleles. The mean CAG repeat length in patients with RP alleles was 38.4 ± 0.54, and 45.37 ± 8.30 in FP alleles. The age of onset and the size of the CAG repeat length showed significant inverse correlation (p <0.001, r = -0.754). Clinical and genetic data of Moroccan patients are similar to those of Caucasian populations previously reported in the literature.

  20. Geology of the Joe Davis Hill quadrangle, Dolores and San Miguel counties, Colorado

    Science.gov (United States)

    Cater, Fred W.; Bell, Henry

    1953-01-01

    The Joe Davis Hill quadrangle is one of eighteen 7 1/2-minute quadrangles covering the principal carnotite-producing area of southwestern Colorado. The geology of these quadrangles was mapped by the U.S. Geological Survey for the Atomic Energy Commission as part of a comprehensive study of carnotite deposits. The rocks exposed in the eighteen quadrangles consist of crystalline rocks of pre-Cambrian age and sedimentary rocks that range in age from late Paleozoic to Quaternary. Over much of the area the sedimentary rocks are flat lying, but in places the rocks are disrupted by hih-angle faults, and northwest-trending folds. Conspicuous among the folds are large anticlines having cores of intrusive salt and gypsum. Most of the carnotite deposits are confined to Salt Wash sandstone member of the Jurassic Morrison formation. Within this sandstone, most of the deposits are spottily distributed through an arcuate zone known as the "Uravan Mineral Belt". Individual deposits range in size from irregular masses containing only a few tons of ore to large, tabular masses containing many thousands of tons. The ore consists largely of sandstone selectively impregnated and in part replaced by uranium and vanadium minerals. Most of the deposits appear to be related to certain sedimentary structures in sandstones of favorable composition.

  1. Geology of the Egnar quadrangle, Dolores and San Miguel counties, Colorado

    Science.gov (United States)

    Cater, Fred W.; Bush, A.L.; Bell, Henry

    1954-01-01

    The Egnar quadrangle is one of eighteen 7 1/2-minute quadrangles covering the principal carnotite-producing area of southwestern Colorado. The geology of these quadrangles was mapped by the U.S. Geological Survey for the Atomic Energy Commission as part of a comprehensive study of carnotite deposits. The rocks exposed in the eighteen quadrangles consist of crystalline rocks of pre-Cambrian age and sedimentary rocks that range in age from late Paleozoic to Quaternary. Over much of the area the sedimentary rocks are flat lying, but in places the rocks are disrupted by hih-angle faults, and northwest-trending folds. Conspicuous among the folds are large anticlines having cores of intrusive salt and gypsum. Most of the carnotite deposits are confined to the Salt Wash sandstone member of Jurassic Morrison formation. Within this sandstone, most of the deposits are spottily distributed through an arcuate zone known as "Uruvan Mineral Belt". Individual deposits range in size from irregular masses containing only a few tons of ore to large, tabular masses containing many thousands of tons. The ore consists largely of sandstone selectively impregnated and in part replaced by uranium and vanadium minerals. Most of the deposits appear to be related to certain sedimentary structures in sandstones of favorable composition.

  2. Geology of Bull Canyon quadrangle, Montrose and San Miguel counties, Colorado

    Science.gov (United States)

    Cater, Fred W.

    1953-01-01

    The Bull Canyon quadrangle is one of eighteen 7 1/2-minute quadrangles covering the principal carnotite-producing area of southwestern Colorado. The geology of these quadrangles was mapped by the U.S. Geological Survey for the Atomic Energy Commission as part of a comprehensive study of carnotite depots. The rocks exposed in the eighteen quadrangles consist of crystalline rocks of pre-Cambrian age and sedimentary rocks that range in age from late Paleozoic to Quaternary. Over much of the area the sedimentary rocks are flat lying, but in places the rocks are disrupted by high-angle faults and northwest-trending folds. Conspicuous among the folds are large anticlines having cores of intrusive salt and gypsum. Most of the carnotite deposits are confined to the Salt Wash sandstone member of the Jurassic Morrison formation. Within this sandstone, most of the deposits are spottily distributed through an arcuate zone known as the "Uravan Mineral Belt". Individual deposits range in size from irregular masses containing only a few tons of ore to large, tabular masses containing many thousands of tones. The ore consists largely of sandstone selectively impregnated and in part replaced by uranium and vanadium minerals. Most of the deposits appear to be related to certain sedimentary structures in sandstones of favorable composition.

  3. Spectral analysis of the quadrangles Av-13 and Av-14 on Vesta

    Science.gov (United States)

    Zambon, F.; Frigeri, A.; Combe, J.-Ph.; Tosi, F.; Longobardo, A.; Ammannito, E.; De Sanctis, M. C.; Blewett, D. T.; Scully, J.; Palomba, E.; Denevi, B.; Yingst, A.; Russell, C. T.; Raymond, C. A.

    2015-10-01

    The Av-13 (Tuccia) and Av-14 (Urbinia) quadrangles are located in the south-west region of Vesta. They are characterized by a large topographic variability, from the highest (Vestalia terra highlands) to the lowest (Rheasilvia basin). Many geological units in these quadrangles are not associated with mineralogical variability, as shown by the color-composite maps. Maps of mafic absorption band-center position reveal that the principal lithology is eucrite-rich howardite, but diogenite-rich howardite areas are also present, corresponding to particular features such as Antonia and Justina craters, which are characterized by strong mafic absorptions. These quadrangles, especially Urbinia, contain many bright ejecta, such as those of Tuccia crater, which are the highest reflectance materials on Vesta (Zambon et al., 2014). Dark areas are present and correspond to regions with deeper OH-signature. The two quadrangles contain many vertical ridge crests associated with the Rheasilvia impact. These ridges do not show mineralogical differences with respect to their surroundings, but have a distinctive appearance in color-ratio composite images.

  4. Digital and preliminary bedrock geologic map of the Rutland quadrangle, Vermont

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital Data from VG98-121A Ratcliffe, N.M., 1998,�Digital and preliminary bedrock geologic map of the Rutland quadrangle, Vermont: USGS Open-File Report 98-121-A, 1...

  5. Digital bedrock geologic map of the Gilson Mountain quadrangle,�Vermont

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital Data from VG95-7A Doolan, B, 1995,�Digital bedrock geologic map of the Gilson Mountain quadrangle,�Vermont: VGS Open-File Report VG95-7A, 2 plates, scale...

  6. Hydrogeochemical and stream sediment reconnaissance basic data for Big Delta Quadrangle, Alaska

    Energy Technology Data Exchange (ETDEWEB)

    1981-05-29

    Field and laboratory data are presented for 1380 water samples from the Big Delta Quadrangle, Alaska. The samples were collected by Los Alamos Scientific Laboratory; laboratory analysis and data reporting were performed by the Uranium Resource Evaluation Project at Oak Ridge, Tennessee.

  7. Contours - CONTOURS_24K_USGS_ADRIAN: Elevation Contours from 7.5-Minute Topographic Quadrangle Maps, Grouped into the 30' x 1째 Adrian Quadrangle, Indiana, Michigan, and Ohio (United States Geological Survey, 1:24,000, Line Shapefile)

    Data.gov (United States)

    NSGIC GIS Inventory (aka Ramona) — CONTOURS_24K_USGS_ADRIAN is a shapefile containing elevation contours produced at a scale of 1:24,000, grouped into a 30' x 1째 quadrangle block. Elevation values are...

  8. Great Lakes

    Science.gov (United States)

    Edsall, Thomas A.; Mac, Michael J.; Opler, Paul A.; Puckett Haecker, Catherine E.; Doran, Peter D.

    1998-01-01

    The Great Lakes region, as defined here, includes the Great Lakes and their drainage basins in Minnesota, Wisconsin, Illinois, Indiana, Ohio, Pennsylvania, and New York. The region also includes the portions of Minnesota, Wisconsin, and the 21 northernmost counties of Illinois that lie in the Mississippi River drainage basin, outside the floodplain of the river. The region spans about 9º of latitude and 20º of longitude and lies roughly halfway between the equator and the North Pole in a lowland corridor that extends from the Gulf of Mexico to the Arctic Ocean.The Great Lakes are the most prominent natural feature of the region (Fig. 1). They have a combined surface area of about 245,000 square kilometers and are among the largest, deepest lakes in the world. They are the largest single aggregation of fresh water on the planet (excluding the polar ice caps) and are the only glacial feature on Earth visible from the surface of the moon (The Nature Conservancy 1994a).The Great Lakes moderate the region’s climate, which presently ranges from subarctic in the north to humid continental warm in the south (Fig. 2), reflecting the movement of major weather masses from the north and south (U.S. Department of the Interior 1970; Eichenlaub 1979). The lakes act as heat sinks in summer and heat sources in winter and are major reservoirs that help humidify much of the region. They also create local precipitation belts in areas where air masses are pushed across the lakes by prevailing winds, pick up moisture from the lake surface, and then drop that moisture over land on the other side of the lake. The mean annual frost-free period—a general measure of the growing-season length for plants and some cold-blooded animals—varies from 60 days at higher elevations in the north to 160 days in lakeshore areas in the south. The climate influences the general distribution of wild plants and animals in the region and also influences the activities and distribution of the human

  9. Geologic map of the Strawberry Butte 7.5’ quadrangle, Meagher County, Montana

    Science.gov (United States)

    Reynolds, Mitchell W.; Brandt, Theodore R.

    2017-06-19

    The 7.5′ Strawberry Butte quadrangle in Meagher County, Montana near the southwest margin of the Little Belt Mountains, encompasses two sharply different geologic terranes.  The northern three-quarters of the quadrangle are underlain mainly by Paleoproterozoic granite gneiss, across which Middle Cambrian sedimentary rocks rest unconformably.  An ancestral valley of probable late Eocene age, eroded northwest across the granite gneiss terrane, is filled with Oligocene basalt and overlying Miocene and Oligocene sandstone, siltstone, tuffaceous siltstone, and conglomerate.  The southern quarter of the quadrangle is underlain principally by deformed Mesoproterozoic sedimentary rocks of the Newland Formation, which are intruded by Eocene biotite hornblende dacite dikes.  In this southern terrane, Tertiary strata are exposed only in a limited area near the southeast margin of the quadrangle.  The distinct terranes are juxtaposed along the Volcano Valley fault zone—a zone of recurrent crustal movement beginning possibly in Mesoproterozoic time and certainly established from Neoproterozoic–Early Cambrian to late Tertiary time.  Movement along the fault zone has included normal faulting, the southern terrane faulted down relative to the northern terrane, some reverse faulting as the southern terrane later moved up against the northern terrane, and lateral movement during which the southern terrane likely moved west relative to the northern terrane.  Near the eastern margin of the quadrangle, the Newland Formation is locally the host of stratabound sulfide mineralization adjacent to the fault zone; west along the fault zone across the remainder of the quadrangle are significant areas and bands of hematite and iron-silicate mineral concentrations related to apparent alteration of iron sulfides.  The map defines the distribution of a variety of surficial deposits, including the distribution of hematite-rich colluvium and iron-silicate boulders.  The southeast

  10. Reconnaissance geology of the Wadi Wassat quadrangle, Kingdom of Saudi Arabia

    Science.gov (United States)

    Overstreet, William C.; Rossman, D.L.

    1970-01-01

    The Wadi Wassat quadrangle covers an area of 2926 sq km in the southwestern part of the Kingdom of Saudi Arabia. The west half of the quadrangle is underlain by crystalline rocks of the Arabian Shield, but in the eastern half of the quadrangle the Precambrian rocks are covered by Permian or older sandstone which is succeeded farther east by aeolian sands of Ar Rub' al Khali. The Shield consists of a sequence of unmetamorphosed to metamorphosed interlayered volcanic and sedimentary rocks intruded by igneous rocks ranging in composition from gabbro to syenite and in age from Precambrian to Cambrian(?). The volcanic rocks range in composition from andesite to rhyolite and in texture from agglomerate to thick, massive flows and lithic tuff. They are interlayered with conglomerate, fine-grained graywacke sandstone, calcareous graywacke, siltstone, tuffaceous laminated shale, pyritiferous sediment, carbonaceous shale, limestone, and dolomite. Most clastic debris is derived from andesite. In places the rocks are polymetamorphosed; elsewhere they are unmetamorphosed. The rocks on which this volcano-sedimentary eugeosynclinal sequence was deposited are not exposed in the area of the quadrangle. Reglonal dynamothermal metamorphism was .the dominant process affecting the volcanic-sedimentary rocks in the western part of the quadrangle. In the eastern part of the Precambrian area the chief metamorphic effect results from contact action along the walls of intrusive plutons. The oldest igneous rock to intrude the volcanic-sedimentary sequence, after the dikes and sills of the sequence itself, is granite gneiss and gneissic granodiorite. The gneiss is sparsely present in the quadrangle, but northwest of the quadrangle it forms an immense batholith which is one of the major geologic features of southwestern Arabia. However, the most common intrusive rocks of the quadrangle are a magnetic differentiation sequence that ranges in composition from gabbro and diorite to granite

  11. Geologic Map of the Lavinia Planitia Quadrangle (V-55), Venus

    Science.gov (United States)

    Ivanov, Mikhail A.; Head, James W.

    2001-01-01

    Introduction The Lavinia Planitia quadrangle (V-55) is in the southern hemisphere of Venus and extends from 25 to 50 south latitude and from 330 to 360 longitude. It covers the central and northern part of Lavinia Planitia and parts of its margins. Lavinia Planitia consists of a centralized, deformed lowland flooded by volcanic deposits and surrounded by Dione Regio to the west (Keddie and Head, 1995), Alpha Regio tessera (Bindschadler and others, 1992a) and Eve Corona (Stofan and others, 1992) to the northeast, itself an extensive rift zone and coronae belt to the east and south (Baer and others, 1994; Magee and Head, 1995), Mylitta Fluctus to the south (Magee Roberts and others, 1992), and Helen Planitia to the southwest (Senske and others, 1991). In contrast to other areas on Venus, the Lavinia Planitia area is one of several large, relatively equidimensional lowlands (basins) and as such is an important region for the analysis of processes of basin formation and volcanic flooding. Before the Magellan mission, Lavinia Planitia was known on the basis of Pioneer-Venus altimetry to be a lowland area (Pettengill and others, 1980);. Arecibo radar images showed that Lavinia Plaitia was surrounded by several corona-like features and rift-like fractures parallel to the basin margin to the east and south (Senske and others, 1991; Campbell and others, 1990). Arecibo data further revealed that the interior contained complex patterns of deformational features in the form of belts and volcanic plains, and several regions along the margins were seen to be the sources of extensive outpourings of digitate lava flows into the interior (Senske and others, 1991; Campbell and others, 1990). Early Magellan results showed that the ridge belts are composed of complex structures of both extensional and contractional origin (Squyres and others, 1992; Solomon and others, 1992) and that the complex lava flows (fluctus) along the margins (Magee Roberts and others, 1992) emanated from a

  12. Multisource data set integration and characterization of uranium mineralization for the Montrose Quadrangle, Colorado

    Energy Technology Data Exchange (ETDEWEB)

    Bolivar, S.L.; Balog, S.H.; Campbell, K.; Fugelso, L.E.; Weaver, T.A.; Wecksung, G.W.

    1981-04-01

    Several data-classification schemes were developed by the Los Alamos National Laboratory to detect potential uranium mineralization in the Montrose 1/sup 0/ x 2/sup 0/ quadrangle, Colorado. A first step was to develop and refine the techniques necessary to digitize, integrate, and register various large geological, geochemical, and geophysical data sets, including Landsat 2 imagery, for the Montrose quadrangle, Colorado, using a grid resolution of 1 km. All data sets for the Montrose quadrangle were registered to the Universal Transverse Mercator projection. The data sets include hydrogeochemical and stream sediment analyses for 23 elements, uranium-to-thorium ratios, airborne geophysical survey data, the locations of 90 uranium occurrences, a geologic map and Landsat 2 (bands 4 through 7) imagery. Geochemical samples were collected from 3965 locations in the 19 200 km/sup 2/ quadrangle; aerial data were collected on flight lines flown with 3 to 5 km spacings. These data sets were smoothed by universal kriging and interpolated to a 179 x 119 rectangular grid. A mylar transparency of the geologic map was prepared and digitized. Locations for the known uranium occurrences were also digitized. The Landsat 2 imagery was digitally manipulated and rubber-sheet transformed to quadrangle boundaries and bands 4 through 7 were resampled to both a 1-km and 100-m resolution. All possible combinations of three, for all data sets, were examined for general geologic correlations by utilizing a color microfilm output. Subsets of data were further examined for selected test areas. Two classification schemes for uranium mineralization, based on selected test areas in both the Cochetopa and Marshall Pass uranium districts, are presented. Areas favorable for uranium mineralization, based on these schemes, were identified and are discussed.

  13. Geologic map of the Sauk River 30- by 60-minute quadrangle, Washington

    Science.gov (United States)

    Tabor, R.W.; Booth, D.B.; Vance, J.A.; Ford, A.B.

    2002-01-01

    Summary -- The north-south-trending regionally significant Straight Creek Fault roughly bisects the Sauk River quadrangle and defines the fundamental geologic framework of it. Within the quadrangle, the Fault mostly separates low-grade metamorphic rocks on the west from medium- to high-grade metamorphic rocks of the Cascade metamorphic core. On the west, the Helena-Haystack melange and roughly coincident Darrington-Devils Mountain Fault Zone separate the western and eastern melange belts to the southwest from the Easton Metamorphic Suite, the Bell Pass melange, and rocks of the Chilliwack Group, to the northeast. The tectonic melanges have mostly Mesozoic marine components whereas the Chilliwack is mostly composed of Late Paleozoic arc rocks. Unconformably overlying the melanges and associated rocks are Eocene volcanic and sedimentary rocks, mostly infaulted along the Darrington-Devils Mountain Fault Zone. These younger rocks and a few small Eocene granitic plutons represent an extensional tectonic episode. East of the Straight Creek Fault, medium to high-grade regional metamorphic rocks of the Nason, Chelan Mountains, and Swakane terranes have been intruded by deep seated, Late Cretaceous granodioritic to tonalitic plutons, mostly now orthogneisses. Unmetamorphosed mostly tonalitic intrusions on both sides of the Straight Creek fault range from 35 to 4 million years old and represent the roots of volcanoes of the Cascade Magmatic Arc. Arc volcanic rocks are sparsely preserved east of the Straight Creek fault, but dormant Glacier Peak volcano on the eastern margin of the quadrangle is the youngest member of the Arc. Deposits of the Canadian Ice Sheet are well represented on the west side of the quadrangle, whereas alpine glacial deposits are common to the east. Roughly 5000 years ago lahars from Glacier Peak flowed westward filling major valleys across the quadrangle.

  14. Geologic map of the Orchard 7.5' quadrangle, Morgan County, Colorado

    Science.gov (United States)

    Berry, Margaret E.; Slate, Janet L.; Hanson, Paul R.; Brandt, Theodore R.

    2015-01-01

    The Orchard 7.5' quadrangle is located along the South Platte River corridor on the semi-arid plains of eastern Colorado, and contains surficial deposits that record alluvial, eolian, and hillslope processes that have operated through environmental changes from the Pleistocene to the present. The South Platte River, originating high in the Colorado Front Range, has played a major role in shaping the geology of the quadrangle, which is situated downstream of where the last of the major headwater tributaries (St. Vrain, Big Thompson, and Cache la Poudre) join the river. Recurrent glaciation (and deglaciation) of basin headwaters affected river discharge and sediment supply far downstream, influencing alluvium deposition and terrace formation in the Orchard quadrangle. Kiowa and Bijou Creeks, unglaciated tributaries originating east of the Front Range also have played a major role by periodically delivering large volumes of sediment to the river during flood events, which may have temporarily dammed the river. Eolian sand deposits of the Greeley (north of river) and Fort Morgan (south of river) dune fields cover much of the quadrangle and record past episodes of sand mobilization during times of drought. With the onset of irrigation during historic times, the South Platte River has changed from a broad, shallow, and sandy braided river with highly seasonal discharge to a much narrower, deeper river with braided-meandering transition morphology and more uniform discharge. Along this reach, the river has incised into Upper Cretaceous Pierre Shale, which, although buried by alluvial deposits in Orchard quadrangle, is locally exposed downstream along the South Platte River bluff near the Bijou Creek confluence, in some of the larger draws, and along Wildcat Creek.

  15. Mineral resource assessment of the Iron River 1 degree x 2 degrees Quadrangle, Michigan and Wisconsin

    Science.gov (United States)

    Cannon, William F.

    1983-01-01

    The Iron River 1? x 2? quadrangle contains identified resources of copper and iron. Copper-rich shale beds in the north part of the quadrangle contain 12.2 billion pounds (5.5 billion kilograms) of copper in well-studied deposits including 9.2 billion pounds (4.2 billion kilograms) that are economically minable by 1980 standards. At least several billion pounds of copper probably exist in other parts of the same shale beds, but not enough data are available to measure the amount. A small amount, about 250 million pounds (113 million kilograms), of native copper is known to remain in one abandoned mine, and additional but unknown amounts remain in other abandoned mines. About 13.25 billion tons (12.02 billion metric tons) of banded iron-formation averaging roughly 30 percent iron are known within 500 feet (152.4 meters) of the surface in the Gogebic, Marquette, and Iron River-Crystal Falls districts. A small percentage of that might someday be minable as taconite, but none is now believed to be economic. Some higher grade iron concentrations exist in the same iron-formations. Such material was the basis of former mining of iron in the region, but a poor market for such ore and depletion of many deposits have led to the decline of iron mining in the quadrangle. Iron mines of the quadrangle were not being worked in 1980. Many parts of the quadrangle contain belts of favorable host rocks for mineral deposits. Although deposits are not known in these belts, undiscovered deposits of copper, zinc, lead, silver, uranium, phosphate, nickel, chromium, platinum, gold, and diamonds could exist.

  16. Digital and preliminary bedrock geologic map of the Vermont part of the Hartland quadrangle, Windsor County, Vermont

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital Data from VG98-123A Walsh, G. J., 1998,�Digital and preliminary bedrock geologic map of the Vermont part of the Hartland quadrangle, Windsor County, Vermont:...

  17. Digital and preliminary bedrock geologic map of the Townshend 7.5 x 15 minute quadrangle, Vermont

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital Data from VG98-335A Armstrong, T.R., and Ratcliffe, N.M., 1998, Digital and preliminary bedrock geologic map of the Townshend 7.5 x 15 minute quadrangle,...

  18. Surficial Geologic Map of the Southern Two-Thirds of the Woodbury Quadrangle, Vermont, Washington County, Vermont

    Data.gov (United States)

    Vermont Center for Geographic Information — Digital data from VG2015-3 Springston, G, Thomas, E, and Kim, J, 2015,�Surficial Geologic Map of the Southern Two-Thirds of the Woodbury Quadrangle, Vermont,...

  19. Recent Trends in Detection of Huntingtin and Preclinical Models of Huntington's Disease.

    Science.gov (United States)

    Mantha, Neelima; Das, Nandita G; Das, Sudip K

    2014-01-01

    Huntington's disease is a genetically inherited neurodegenerative disease that is characterized by neuronal cell death in the brain. Molecular biology techniques to detect and quantify huntingtin protein in biological samples involve fluorescence imaging, western blotting, and PCR. Modified cell lines are widely used as models for Huntington's disease for preclinical screening of drugs to study their ability to suppress the expression of huntingtin. Although worm and fly species have been experimented on as models for Huntington's disease, the most successful animal models have been reported to be primates. This review critically analyses the molecular biology techniques for detection and quantitation of huntingtin and evaluates the various animal species for use as models for Huntington's disease.

  20. The Current Status of Neural Grafting in the Treatment of Huntington's Disease. A Review

    National Research Council Canada - National Science Library

    Wijeyekoon, Ruwani; Barker, Roger A

    2011-01-01

    Huntington's disease (HD) is a devastating, fatal, autosomal dominant condition in which the abnormal gene codes for a mutant form of huntingtin that causes widespread neuronal dysfunction and death...

  1. Hypothalamic Alterations in Huntington's Disease Patients : Comparison with Genetic Rodent Models

    NARCIS (Netherlands)

    Van Wamelen, D.J.; Aziz, N A; Roos, R A C; Swaab, D F

    2014-01-01

    Unintended weight loss, sleep and circadian disturbances and autonomic dysfunction are prevalent features of Huntington's disease (HD), an autosomal dominantly inherited neurodegenerative disorder caused by an expanded CAG repeat sequence in the HTT gene. These features form a substantial contributi

  2. 77 FR 51064 - Huntington Foam LLC, Fort Smith, AR; Notice of Affirmative Determination Regarding Application...

    Science.gov (United States)

    2012-08-23

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF LABOR Employment and Training Administration Huntington Foam LLC, Fort Smith, AR; Notice of Affirmative Determination Regarding Application for Reconsideration By application dated May 21, 2012, the State...

  3. 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

    -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...... instances with mutant HTT. We confirmed this related to the disease process rather than age, by showing it is also present in two patients with young-onset Huntington's disease (26 and 40 years old at death). In addition we demonstrate that tau oligomers (suggested to be the most likely neurotoxic tau...

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

    NARCIS (Netherlands)

    Odish, Omar F F; Caeyenberghs, Karen; Hosseini, Hadi; Van Den Bogaard, Simon J A; Roos, Raymund A C; Leemans, A

    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 prem

  5. Evaluation of tetrathiomolybdate in the R6/2 model of Huntington disease.

    Science.gov (United States)

    Tallaksen-Greene, Sara J; Janiszewska, Anita; Benton, Kasha; Hou, Guoqing; Dick, Robert; Brewer, George J; Albin, Roger L

    2009-03-06

    Huntington disease is an uncommon autosomal dominant neurodegenerative disorder caused by expanded polyglutamine repeats in the huntingtin protein. The proximate mechanisms responsible for neurodegeneration are unknown. Copper ions may play a role in Huntington disease by promoting oligomerization of expanded polyglutamine repeat protein fragments. Ammonium tetrathiomolybdate is a copper complexing agent with demonstrated tolerability and efficacy in another neurodegenerative disorder, Wilson disease. We evaluated ammonium tetrathiomolybdate in the R6/2 transgenic mouse model of Huntington disease. Ammonium tetrathiomolybdate treatment delayed the onset of motor dysfunction in R6/2 mice. There was a trend towards reduced striatal degeneration, suggesting a neuroprotective effect of ammonium tetrathiomolybdate in this model. Given its known tolerability in humans with neurodegeneration, ammonium tetrathiomolybdate could be considered as a candidate for clinical trials in Huntington disease.

  6. Uranium hydrogeochemical and stream sediment reconnaissance of the Bradfield Canal NTS quadrangle, Alaska. National Uranium Resource Evaluation

    Energy Technology Data Exchange (ETDEWEB)

    Shettel, D.L. Jr.; Langfeldt, S.L.; Hardy, L.C.; D' Andrea, R.F. Jr.; Zinkl, R.J.; Hensley, W.K.; Thomas, G.J.; Martell, C.J.; Maassen, L.W. (comps.)

    1981-11-01

    This report presents results of a Hydrogeochemical and Stream Sediment Reconnaissance (HSSR) of the Bradfield Canal NTMS quadrangle, Alaska. In addition to this abbreviaed data release, more complete data are available to the public in machine-readable form. These machine-readable data, as well as quarterly or semiannual program progress reports containing further information on the HSSR program in general, or on the Los Alamos National Laboratory (LANL) portion of the program in particular, are available from DOE's Technical Library at its Grand Junction Area Office. Presented in this data release are location data, field analyses, and laboratory analyses of several different sample media. For the sake of brevity, many field site observations have not been included in this volume; these data are, however, available on the magnetic tape. Appendices A and B describe the sample media and summarize the analytical results for each medium. The data have been subdivided by one of the Los Alamos National Laboratory sorting programs of Zinkl and others (1981a) into groups of stream-sediment and lake-sediment samples. For each group which contains a sufficient number of observations, statistical tables, tables of raw data, and 1:1,000,000 scale maps of pertinent elements have been included in this report. Also included are maps showing results of multivariate statistical analyses. Information on the field and analytical procedures used by the Los Alamos National Laboratory during sample collection and analysis may be found in any HSSR data release prepared by the Laboratory (see, for example, Planner and others, 1981), and will not be included in this report.

  7. Map showing abundance and distribution of copper in oxide residues of stream-sediment samples, Medford 1 degree by 2 degrees Quadrangle, Oregon-California

    Science.gov (United States)

    Whittington, Charles L.; Grimes, David J.; Leinz, Reinhard W.

    1985-01-01

    Stream-sediment sampling in the Medford 1o x 2o quadrangle was undertaken to provide to aid in assessment of the mineral resource potential of the quadrangle. This map presents data on the abundance and distribution of copper in the oxide residues (oxalic-acid leachates) of stream sediments and in the minus-0.18-mm sieve fraction of selected stream sediments collected in the quadrangle

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

    Science.gov (United States)

    Vuono, Romina; Winder-Rhodes, Sophie; de Silva, Rohan; Cisbani, Giulia; Drouin-Ouellet, Janelle; Spillantini, Maria G; Cicchetti, Francesca; Barker, Roger A

    2015-07-01

    Huntington's disease is a neurodegenerative disorder caused by an abnormal CAG repeat expansion within exon 1 of the huntingtin gene HTT. While several genetic modifiers, distinct from the Huntington's disease locus itself, have been identified as being linked to the clinical expression 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 in Huntington's disease. We explored this association in more detail at the neuropathological, genetic and clinical level. We first investigated tau pathology by looking for the presence of hyperphosphorylated tau aggregates, co-localization of tau with mutant HTT and its oligomeric intermediates in post-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 instances with mutant HTT. We confirmed this related to the disease process rather than age, by showing it is also present in two patients with young-onset Huntington's disease (26 and 40 years old at death). In addition we demonstrate that tau oligomers (suggested to be the most likely neurotoxic tau entity) are present in the Huntington's disease brains. Finally we highlight the clinical significance of this pathology by demonstrating that the MAPT haplotypes affect the rate

  9. Increased brain tissue sodium concentration in Huntington's Disease - a sodium imaging study at 4 T.

    Science.gov (United States)

    Reetz, Kathrin; Romanzetti, Sandro; Dogan, Imis; Saß, Christian; Werner, Cornelius J; Schiefer, Johannes; Schulz, Jörg B; Shah, N Jon

    2012-10-15

    The neuropathological hallmark of the autosomal dominantly inherited, neurodegenerative disorder Huntington's disease is progressive striatal loss starting several years prior to symptom manifestation. Magnetic resonance (MR) imaging has been widely used to detect altered structure in premanifest and early Huntington's disease. Given that neurodegeneration is likely preceded by substantial neuronal dysfunction, we used in vivo sodium MR imaging, which has been shown to be sensitive to cell death and viability, to investigate cellular and metabolic integrity of Huntington's disease brain tissue. We studied a total of thirteen healthy controls and thirteen Huntington's disease gene carriers (11 manifest and 2 premanifest). The manifest Huntington's disease group was subdivided into stages 1 and 2 according to their Total Functional Capacity scores. Clinical total motor and cognitive scores, as well as calibrated sodium and T1-weighted MR images were obtained with a 4 T Siemens MR scanner. Sodium images were acquired by means of a constant time imaging technique with an ultra-short "echo time". T1-weighted MR images were further analysed with voxel-based morphometry. The absolute total sodium concentration and grey matter values were measured in several Huntington's disease-specific and also non-specific areas. Statistical analysis of variance and Pearson correlation were applied. In Huntington's disease subjects, we found an increase of total sodium concentration of the entire brain compared to controls. Increased total sodium concentration values were found in structurally affected, but also in some non-affected, regions. The highest total sodium concentration values were found in the bilateral caudate, which was associated with caudate grey matter atrophy and CAG repeat length. In all Huntington's disease subjects we further found a profound increase of total sodium concentration in the putamen, pallidum, thalamus, hippocampus, insula, precuneus and occipital

  10. Bouguer gravity anomaly and isostatic residual gravity maps of the Tonopah 1 degree by 2 degrees Quadrangle, central Nevada

    Science.gov (United States)

    Plouff, Donald

    1992-01-01

    These gravity maps are part of a folio of maps of the Tonopah 1 degree by 2 degrees quadrangle, Nevada, prepared under the Conterminous United States Mineral Assessment Program. Each product of the folio is designated by a different letter symbol, starting with A, in the MF-1877 folio. The quadrangle encompasses an area of about 19,500 km2  in the west central part of Nevada.

  11. Lidar-revised geologic map of the Poverty Bay 7.5' quadrangle, King and Pierce Counties, Washington

    Science.gov (United States)

    Tabor, Rowland W.; Booth, Derek B.; Troost, Kathy Goetz

    2014-01-01

    For this map, we interpreted a 6-ft-resolution lidar digital elevation model combined with the geology depicted on the Geologic Map of the Poverty Bay 7.5' Quadrangle, King and Pierce Counties, Washington (Booth and others, 2004b). The authors of the 2004 map described, interpreted, and located the geology on the 1:24,000-scale topographic map of the Poverty Bay 7.5' quadrangle.

  12. [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

  13. A double blind trial of sulpiride in Huntington's disease and tardive dyskinesia.

    OpenAIRE

    Quinn, N.; Marsden, C. D.

    1984-01-01

    Eleven patients with Huntington's disease and nine patients with tardive dyskinesia participated in a randomised double-blind crossover trial of sulpiride (as sole antidopaminergic therapy) versus placebo. Although functional improvement was not seen in Huntington's disease patients, sulpiride reduced movement count and total dyskinesia score in both conditions. Sulpiride differs pharmacologically in several respects from conventional neuroleptics, and has not been convincingly shown to cause...

  14. It wasn't Witchcraft--It was Huntington Disease!

    Science.gov (United States)

    Penaranda, Eribeth; Garcia, Angel; Montgomery, Lisa

    2011-01-01

    Huntington disease (HD) is an autosomal-dominant, incurable, progressive disorder that manifests with chorea and behavioral and cognitive impairment. The disease usually occurs during the fourth or fifth decade of life; however, it may present at any age. Clinical suspicion is confirmed by genetic testing. Death occurs, on average, 15 to 20 years after the onset of symptoms. Here we report about a Hispanic woman and her family who were affected by the disease; this case illustrates the role of cultural values and beliefs in the decision-making process, as well as the importance of the physician's cultural competency in fostering a trusting relationship that may lessen the burden of catastrophic diseases on individuals, families, and society at-large.

  15. Huntington's disease impairs recognition of angry and instrumental body language.

    Science.gov (United States)

    de Gelder, Beatrice; Van den Stock, Jan; Balaguer, Ruth de Diego; Bachoud-Lévi, Anne-Catherine

    2008-01-15

    Patients with Huntington's disease (HD) exhibit motor impairments as well as cognitive and emotional deficits. So far impairments in the ability to recognize emotional stimuli have mostly been investigated by using facial expressions and emotional voices. Other important emotional signals are provided by the whole body. To investigate the impact of motor deficits on body recognition and the relation between motor disorders and emotion perception deficits, we tested recognition of emotional body language (instrumental, angry, fearful and sad) in 19 HD patients and their matched controls with a nonverbal whole body expression matching task. Results indicate that HD patients are impaired in recognizing both instrumental and angry whole body postures. Furthermore, the body language perception deficits are correlated with measures of motor deficit. Taken together the results suggest a close relationship between emotion recognition (specifically anger) and motor abilities.

  16. Rapid eye movement sleep disturbances in Huntington disease

    DEFF Research Database (Denmark)

    Arnulf, I.; Nielsen, J.; Lohmann, E.

    2008-01-01

    with very mild HD and worsened with disease severity. In contrast to narcoleptic patients, HD patients had no cataplexy, hypnagogic hallucinations, or sleep paralysis. Four HD patients had abnormally low (sleep latencies, but none had multiple sleep-onset REM periods. Conclusions......Background: Sleep disorders including insomnia, movements during sleep, and daytime sleepiness are common but poorly studied in Huntington disease (HD). Objective: To evaluate the HD sleep-wake phenotype (including abnormal motor activity during sleep) in patients with various HD stages...... interview, nighttime video and sleep monitoring, and daytime multiple sleep latency tests. Their results were compared with those of patients with narcolepsy and control patients. Results: The HD patients had frequent insomnia, earlier sleep onset, lower sleep efficiency, increased stage I sleep, delayed...

  17. 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.

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

    Science.gov (United States)

    Khakh, Baljit S; Beaumont, Vahri; Cachope, Roger; Munoz-Sanjuan, Ignacio; Goldman, Steven A; Grantyn, Rosemarie

    2017-07-01

    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 clearance, as well as on the use of transplanted astrocytes to produce therapeutic benefit in mouse models of HD. Overall, the data suggest that astrocyte dysfunction is an important contributor to the onset and progression of some HD symptoms in mice. Additional exploration of astrocytes in HD mouse models and humans is needed and may provide new therapeutic opportunities to explore in conjunction with neuronal rescue and repair strategies. Copyright © 2017 Elsevier Ltd. All rights reserved.

  19. Genetic counseling and testing for Huntington's disease: A historical review.

    Science.gov (United States)

    Nance, Martha A

    2017-01-01

    This manuscript describes the ways in which genetic counseling has evolved since John Pearson and Sheldon Reed first promoted "a genetic education" in the 1950s as a voluntary, non-directive clinical tool for permitting individual decision making. It reviews how the emergence of Huntington's disease (HD) registries and patient support organizations, genetic testing, and the discovery of a disease-causing CAG repeat expansion changed the contours of genetic counseling for families with HD. It also reviews the guidelines, outcomes, ethical and laboratory challenges, and uptake of predictive, prenatal, and preimplantation testing, and it casts a vision for how clinicians can better make use of genetic counseling to reach a broader pool of families that may be affected by HD and to ensure that genetic counseling is associated with the best levels of care. © 2016 Wiley Periodicals, Inc.

  20. Modern Genome Editing Technologies in Huntington's Disease Research.

    Science.gov (United States)

    Malankhanova, Tuyana B; Malakhova, Anastasia A; Medvedev, Sergey P; Zakian, Suren M

    2017-01-01

    The development of new revolutionary technologies for directed gene editing has made it possible to thoroughly model and study NgAgo human diseases at the cellular and molecular levels. Gene editing tools like ZFN, TALEN, CRISPR-based systems, NgAgo and SGN can introduce different modifications. In gene sequences and regulate gene expression in different types of cells including induced pluripotent stem cells (iPSCs). These tools can be successfully used for Huntington's disease (HD) modeling, for example, to generate isogenic cell lines bearing different numbers of CAG repeats or to correct the mutation causing the disease. This review presents common genome editing technologies and summarizes the progress made in using them in HD and other hereditary diseases. Furthermore, we will discuss prospects and limitations of genome editing in understanding HD pathology.

  1. Striatal Vulnerability in Huntington's Disease: Neuroprotection Versus Neurotoxicity.

    Science.gov (United States)

    Morigaki, Ryoma; Goto, Satoshi

    2017-06-07

    Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by the expansion of a CAG trinucleotide repeat encoding an abnormally long polyglutamine tract (PolyQ) in the huntingtin (Htt) protein. In HD, striking neuropathological changes occur in the striatum, including loss of medium spiny neurons and parvalbumin-expressing interneurons accompanied by neurodegeneration of the striosome and matrix compartments, leading to progressive impairment of reasoning, walking and speaking abilities. The precise cause of striatal pathology in HD is still unknown; however, accumulating clinical and experimental evidence suggests multiple plausible pathophysiological mechanisms underlying striatal neurodegeneration in HD. Here, we review and discuss the characteristic neurodegenerative patterns observed in the striatum of HD patients and consider the role of various huntingtin-related and striatum-enriched proteins in neurotoxicity and neuroprotection.

  2. Genetic Mouse Models of Huntington's Disease: Focus on Electrophysiological Mechanisms

    Directory of Open Access Journals (Sweden)

    Carlos Cepeda

    2010-03-01

    Full Text Available The discovery of the HD (Huntington's disease gene in 1993 led to the creation of genetic mouse models of the disease and opened the doors for mechanistic studies. In particular, the early changes and progression of the disease could be followed and examined systematically. The present review focuses on the contribution of these genetic mouse models to the understanding of functional changes in neurons as the HD phenotype progresses, and concentrates on two brain areas: the striatum, the site of most conspicuous pathology in HD, and the cortex, a site that is becoming increasingly important in understanding the widespread behavioural abnormalities. Mounting evidence points to synaptic abnormalities in communication between the cortex and striatum and cell-cell interactions as major determinants of HD symptoms, even in the absence of severe neuronal degeneration and death.

  3. High resolution impedance manometric findings in dysphagia of Huntington's disease

    Institute of Scientific and Technical Information of China (English)

    Tae Hee Lee; Joon Seong Lee; Wan Jung Kim

    2012-01-01

    Conventional manometry presents significant challenges,espedally in assessment of pharyngeal swallowing,because of the asymmetry and deglutitive movements of oropharyngeal structures.It only provides information about intraluminal pressure and thus it is difficult to study functional details of esophageal motility disorders.New technology of solid high resolution impedance manometry (HRIM),with 32 pressure sensors and 6 impedance sensors,is likely to provide better assessment of pharyngeal swallowing as well as more information about esophageal motility disorders.However,the clinical usefulness of application of HRIM in patients with oropharyngeal dysphagia or esophageal dysphagia is not known.We experienced a case of Huntington's disease presenting with both oropharyngeal and esophageal dysphagia,in which HRIM revealed the mechanism of oropharyngeal dysphagia and provided comprehensive information about esophageal dysphagia.

  4. Observation of the Wigner-Huntington transition to metallic hydrogen

    Science.gov (United States)

    Dias, Ranga P.; Silvera, Isaac F.

    2017-02-01

    Producing metallic hydrogen has been a great challenge in condensed matter physics. Metallic hydrogen may be a room-temperature superconductor and metastable when the pressure is released and could have an important impact on energy and rocketry. We have studied solid molecular hydrogen under pressure at low temperatures. At a pressure of 495 gigapascals, hydrogen becomes metallic, with reflectivity as high as 0.91. We fit the reflectance using a Drude free-electron model to determine the plasma frequency of 32.5 ± 2.1 electron volts at a temperature of 5.5 kelvin, with a corresponding electron carrier density of 7.7 ± 1.1 × 1023 particles per cubic centimeter, which is consistent with theoretical estimates of the atomic density. The properties are those of an atomic metal. We have produced the Wigner-Huntington dissociative transition to atomic metallic hydrogen in the laboratory.

  5. Westphal variant Huntington disease and refractory catatonia: a case report.

    Science.gov (United States)

    Merida-Puga, Jorge; Ramirez-Bermudez, Jesus; Aguilar-Venegas, Luis Carlos; Fricchione, Gregory L; Espinola-Nadurille, Mariana

    2011-12-01

    A young woman with Westphal variant (juvenile) Huntington disease (HD) also developed catatonia. Catatonia is an underdiagnosed psychomotor syndrome often associated with neurological and psychiatric disorders, but it has rarely been documented in patients with HD. Catatonia usually responds to standard treatment with benzodiazepines and electroconvulsive therapy; however, this patient's catatonic syndrome did not improve until we augmented the standard treatment with amantadine and levodopa. The underlying pathophysiology and a neurochemical hypothesis of HD and catatonia can explain their comorbidity and the refractoriness of catatonia to treatment. Both conditions are linked to dysregulation of neurotransmitters in the striatocortical and corticocortical pathways. This understanding may serve as a guide for the use of nonstandard treatments. Our evidence also suggests that electroconvulsive therapy can be useful and safe in the treatment of HD.

  6. Autophagy in Huntington disease and huntingtin in autophagy.

    Science.gov (United States)

    Martin, Dale D O; Ladha, Safia; Ehrnhoefer, Dagmar E; Hayden, Michael R

    2015-01-01

    Autophagy is an important biological process that is essential for the removal of damaged organelles and toxic or aggregated proteins by delivering them to the lysosome for degradation. Consequently, autophagy has become a primary target for the treatment of neurodegenerative diseases that involve aggregating proteins. In Huntington disease (HD), an expansion of the polyglutamine (polyQ) tract in the N-terminus of the huntingtin (HTT) protein leads to protein aggregation. However, HD is unique among the neurodegenerative proteinopathies in that autophagy is not only dysfunctional but wild type (wt) HTT also appears to play several roles in regulating the dynamics of autophagy. Herein, we attempt to integrate the recently described novel roles of wtHTT and altered autophagy in HD. Copyright © 2014 Elsevier Ltd. All rights reserved.

  7. Diagnóstico molecular de la enfermedad de Huntington en Costa Rica Molecular diagnosis of Huntington´s disease in Costa Rica

    OpenAIRE

    Melissa Vásquez-Cerdas; Fernando Morales-Montero; Húbert Fernández-Morales; Gerardo el Valle-Carazo; Jaime Fornaguera-Trías; Patricia Cuenca-Berger

    2008-01-01

    Artículo científico -- Universidad de Costa Rica. Instituto de Investigaciones en Salud, 2008 Justificación y objetivo. Este estudio representa un esfuerzo para establecer por primera vez en Costa Rica el diagnóstico molecular de la enfermedad de Huntington; esto favorecerá un mejor manejo clínico de los pacientes y podrá ser traducido en un incremento de la calidad de vida de las familias. Se pretende determinar el número de repeticiones CAG en personas con la enfermedad de Huntington y f...

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

    Science.gov (United States)

    Quarrell, Oliver W; Handley, Olivia; O'Donovan, Kirsty; Dumoulin, Christine; Ramos-Arroyo, Maria; Biunno, Ida; Bauer, Peter; Kline, Margaret; Landwehrmeyer, G Bernhard

    2012-01-01

    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 results from 121 laboratories across 15 countries. We report on 1326 duplicate results; a discrepancy in reporting the upper allele occurred in 51% of cases, this reduced to 13.3% and 9.7% when we applied acceptable measurement errors proposed by the American College of Medical Genetics and the Draft European Best Practice Guidelines, respectively. Duplicate results were available for 1250 lower alleles; discrepancies occurred in 40% of cases. Clinically significant discrepancies occurred in 4.0% of cases with a potential unexplained misdiagnosis rate of 0.3%. There was considerable variation in the discrepancy rate among 10 of the countries participating in this study. Out of 1326 samples, 348 were re-analysed by an accredited diagnostic laboratory, based in Germany, with concordance rates of 93% and 94% for the upper and lower alleles, respectively. This became 100% if the acceptable measurement errors were applied. The central laboratory correctly reported allele sizes for six standard reference samples, blind to the known result. Our study differs from external quality assessment (EQA) schemes in that these are duplicate results obtained from a large sample of patients across the whole diagnostic range. We strongly recommend that laboratories state an error rate for their measurement on the report, participate in EQA schemes and use reference materials regularly to adjust their own internal standards.

  9. 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

  10. Bathymetry of Lake Michigan

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Bathymetry of Lake Michigan has been compiled as a component of a NOAA project to rescue Great Lakes lake floor geological and geophysical data and make it more...

  11. Bathymetry of Lake Ontario

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Bathymetry of Lake Ontario has been compiled as a component of a NOAA project to rescue Great Lakes lake floor geological and geophysical data and make it more...

  12. Designated Wildlife Lakes - points

    Data.gov (United States)

    Minnesota Department of Natural Resources — This is a point shapefile of Designated Wildlife Lakes in Minnesota. This shapefile was created by converting lake polygons from the Designated Wildlife Lakes...

  13. Great Lakes Bathymetry

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Bathymetry of Lakes Michigan, Erie, Saint Clair, Ontario and Huron has been compiled as a component of a NOAA project to rescue Great Lakes lake floor geological and...

  14. Bathymetry of Lake Superior

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Bathymetry of Lake Superior has been compiled as a component of a NOAA project to rescue Great Lakes lake floor geological and geophysical data and make it more...

  15. Hydrography - Lakes Assessments - Attaining

    Data.gov (United States)

    NSGIC GIS Inventory (aka Ramona) — This layer shows only attaining lakes of the Integrated List. The Lakes Integrated List represents lake assessments in an integrated format for the Clean Water Act...

  16. Bathymetry of Lake Huron

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Bathymetry of Lake Huron has been compiled as a component of a NOAA project to rescue Great Lakes lake floor geological and geophysical data and make it more...

  17. Geologic map of the Beacon Rock quadrangle, Skamania County, Washington

    Science.gov (United States)

    Evarts, Russell C.; Fleck, Robert J.

    2017-06-06

    The Beacon Rock 7.5′ quadrangle is located approximately 50 km east of Portland, Oregon, on the north side of the Columbia River Gorge, a scenic canyon carved through the axis of the Cascade Range by the Columbia River. Although approximately 75,000 people live within the gorge, much of the region remains little developed and is encompassed by the 292,500-acre Columbia River Gorge National Scenic Area, managed by a consortium of government agencies “to pro­tect and provide for the enhancement of the scenic, cultural, recreational and natural resources of the Gorge and to protect and support the economy of the Columbia River Gorge area.” As the only low-elevation corridor through the Cascade Range, the gorge is a critical regional transportation and utilities corridor (Wang and Chaker, 2004). Major state and national highways and rail lines run along both shores of the Columbia River, which also provides important water access to ports in the agricultural interior of the Pacific Northwest. Transmission lines carry power from hydroelectric facilities in the gorge and farther east to the growing urban areas of western Oregon and Washington, and natural-gas pipelines transect the corridor (Wang and Chaker, 2004). These lifelines are highly vulnerable to disruption by earthquakes, landslides, and floods. A major purpose of the work described here is to identify and map geologic hazards, such as faults and landslide-prone areas, to provide more accurate assessments of the risks associated with these features.The steep canyon walls of the map area reveal exten­sive outcrops of Miocene flood-basalt flows of the Columbia River Basalt Group capped by fluvial deposits of the ances­tral Columbia River, Pliocene lavas erupted from the axis of the Cascade arc to the east, and volcanic rocks erupted from numerous local vents. The Columbia River Basalt Group unconformably rests on a sequence of late Oligocene and early Miocene rocks of the ancestral Cascade volcanic arc

  18. Reconnaissance geology of the Thaniyah Quadrangle, sheet 20/42 C, Kingdom of Saudi Arabia

    Science.gov (United States)

    Greene, Robert C.

    1983-01-01

    The Thaniyah quadrangle, sheet 20/42 C, is located in the transition zone between the Hijaz Mountains and the Najd Plateau of southwestern Saudi Arabia between lat 20?00' and 20?30' N., long 42?00' to 42?30' E. The quadrangle is underlain by Precambrian metavolcanic, metasedimentary, plutonic, and dike rocks. Metavolcanic rocks consist of metamorphosed basalt and andesite with minor dacite and rhyolite and underlie three discontinuous northwest-trending belts. Metasedimentary rocks are confined to small areas underlain by quartzite, metasandstone, marble, and calc-silicate rock. Plutonic rocks include an extensive unit of tonalite and quartz diorite and a smaller unit of diorite and quartz diorite, which occupy much of the central part of the quadrangle. A small body of diorite and gabbro and a two-part zone of tonalite gneiss are also present. All of these plutonic rocks are assigned to the An Nimas batholith. Younger plutonic rocks include extensive graphic granite and rhyolite in the northeastern part of the quadrangle and several smaller bodies of granitic rocks and of gabbro. The metavolcanic rocks commonly have strong foliation with northwest strike and steep to vertical dip. Diorite and quartz diorite are sheared and brecciated and apparently syntectonic. Tonalite and quartz diorite are both foliate and nonfoliate and were intruded in episodes both preceding and following shearing. The granitic rocks and gabbro are post-tectonic. Trends of faults and dikes are mostly related to the Najd faulting episode. Radiometric ages, mostly from adjacent quadrangles, suggest that the An Nimas batholith is 835 to 800 Ma, gabbro and granite, except the graphic granite and rhyolite unit, are about 640 to 615 Ma, and the graphic granite and rhyolite 575 to 565 Ma old. Metavolcanic rocks similar to those hosting copper and gold mineralization in the Wadi Shuwas mining district adjacent to the southwestern part of the quadrangle are abundant. An ancient copper mine was

  19. 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

  20. Great Lakes Science Center

    Data.gov (United States)

    Federal Laboratory Consortium — Since 1927, Great Lakes Science Center (GLSC) research has provided critical information for the sound management of Great Lakes fish populations and other important...

  1. Hope in Huntington's disease A survey in counseling patients with Huntington's disease,as well as the caregivers

    Institute of Scientific and Technical Information of China (English)

    Jerzy T Marcinkowski; Daniel Zielonka

    2009-01-01

    BACKGROUND: It is difficult to attract interest in non-compulsory, preventive, medical care, and persons diagnosed with certain diseases often ignore the existence of these diseases. However, Huntington's disease (HD) is an exception. OBJECTIVE: To qualitatively analyze factors motivating HD patients to participate in a study, namely the European Huntington's Disease Network (EHDN) REGISTRY. DESIGN, TIME AND SETTING: An observational survey was conducted in the EHDN Study Site in Pozna(n), Poland between 2007 and 2008.PARTICIPANTS: The study involved 22 persons affected with HD and 3 pre-symptomatic individuals, totaling 9 males and 16 females. The 24 participants in this study had 24 different caregivers. A total of 25 symptomatic or pre-symptomatic subjects participated in the initial REGISTRY visit, as well as 6 in the second, and 1 in the third. All subjects did not know each other prior to the visit. METHODS: A mutation in the IT15 gene was confirmed in each patient or pre-symptomatic mutation carrier. An in-depth interview produced detailed information on the HD patients, as well as the caregivers, for the REGISTRY study. MAIN OUTCOME MEASURES: A qualitative analysis of the factors motivating HD patients and the pre-symptomatic mutation carriers to participate in the REGISTRY longitudinal, observational, research project was performed. RESULTS: The primary motivating factor for involvement of HD patients and the caregivers in the REGISTRY study was the hope that an effective HD therapy would soon be discovered. In HD patients and the pre-symptomatic group, the response to participate in the REGISTRY project reached 100%, despite the fact that they knew the project was only an observational study. CONCLUSION: Patient hope is thought to be a factor for engaging in preventive, therapeutic activities. However, this is rarely mentioned in medical papers and clinical textbooks, and is usually overlooked in medical teaching. Clearly, efforts should be made to

  2. Rating scales for behavioral symptoms in Huntington's disease: Critique and recommendations.

    Science.gov (United States)

    Mestre, Tiago A; van Duijn, Erik; Davis, Aileen M; Bachoud-Lévi, Anne-Catherine; Busse, Monica; Anderson, Karen E; Ferreira, Joaquim J; Mahlknecht, Philipp; Tumas, Vitor; Sampaio, Cristina; Goetz, Chris G; Cubo, Esther; Stebbins, Glenn T; Martinez-Martin, Pablo

    2016-10-01

    Behavioral symptoms are an important feature of Huntington's disease and contribute to impairment in quality of life. The Movement Disorder Society commissioned the assessment of the clinimetric properties of rating scales in Huntington's disease to make recommendations regarding their use, following previously used standardized criteria. A systematic literature search was conducted to identify the scales used to assess behavioral symptoms in Huntington's disease. For the purpose of this review, 7 behavioral domains were deemed significant in Huntington's disease: irritability, anxiety, depression, apathy, obsessive-compulsive behaviors, psychosis, and suicidal ideation. We included a total of 27 behavioral rating scales, 19 of which were of a single behavioral domain and the remaining 8 scales included multiple behavioral domains. Three rating scales were classified as "recommended" exclusively for screening purposes: the Irritability Scale for irritability, the Beck Depression Inventory-II, and the Hospital Anxiety and Depression Scale for depression. There were no "recommended" scales for other purposes such as diagnosis, severity, or change in time or to treatment. The main challenges identified for assessment of behavioral symptoms in Huntington's disease are the co-occurrence of multiple behavioral symptoms, the particular features of a behavioral symptom in Huntington's disease, and the need to address stage- and disease-specific features, including cognitive impairment and lack of insight. The committee concluded that there is a need to further validate currently available behavioral rating scales in Huntington's disease to address gaps in scale validation for specific behavioral domains and purpose of use. © 2016 International Parkinson and Movement Disorder Society. © 2016 International Parkinson and Movement Disorder Society.

  3. Bedrock geologic map of the Uxbridge quadrangle, Worcester County, Massachusetts, and Providence County, Rhode Island

    Science.gov (United States)

    Walsh, Gregory J.

    2014-01-01

    The bedrock geology of the 7.5-minute Uxbridge quadrangle consists of Neoproterozoic metamorphic and igneous rocks of the Avalon zone. In this area, rocks of the Avalon zone lie within the core of the Milford antiform, south and east of the terrane-bounding Bloody Bluff fault zone. Permian pegmatite dikes and quartz veins occur throughout the quadrangle. The oldest metasedimentary rocks include the Blackstone Group, which represents a Neoproterozoic peri-Gondwanan marginal shelf sequence. The metasedimentary rocks are intruded by Neoproterozoic arc-related plutonic rocks of the Rhode Island batholith. This report presents mapping by G.J. Walsh. The complete report consists of a map, text pamphlet, and GIS database. The map and text pamphlet are available only as downloadable files (see frame at right). The GIS database is available for download in ESRI™ shapefile and Google Earth™ formats, and includes contacts of bedrock geologic units, faults, outcrops, structural geologic information, geochemical data, and photographs.

  4. Results of a geochemical survey, Aban Al Ahmar Quadrangle, Sheet 25F, Kingdom of Saudi Arabia

    Science.gov (United States)

    Miller, W. Roger; Arnold, M.A.

    1988-01-01

    The interpretation of geochemical data from a regional survey of the Aban al Ahmar quadrangle resulted in the selection of areas for follow-up studies. The results of detailed geochemical studies of these areas, combined with field observation, resulted in the selection of areas of moderate to high mineral resource potential. The most important areas are (1) the Jibal Minyah area, Aban al Asmar area, Jibal Suwaj area, and Nubayah area where tin and tungsten mineralization are associated with Abanat-suite rocks or possible buried Abanat-suite plutons; (2) several areas containing rocks of the Murdama group in the northern part of the quadrangle, the Buqaya al Luaah area, and the Jabal Akkash area where precious- and base-metal mineralization are generally associated with small Idah-suite plutons; and (3) the southern periphery of Jibal Qitan associated with skarn mineralization.

  5. Reconnaissance surficial geologic map of the Taylor Mountains quadrangle, southwestern Alaska

    Science.gov (United States)

    Wilson, Frederic H.

    2015-09-28

    This map and accompanying digital files are the result of the interpretation of aerial photographs from the 1950s as well as more modern imagery. The area, long considered a part of Alaska that was largely not glaciated (see Karlstrom, 1964; Coulter and others, 1965; or Péwé, 1975), actually has a long history reflecting local and more distant glaciations. An unpublished photogeologic map of the Taylor Mountains quadrangle from the 1950s by J.N. Platt Jr. was useful in the construction of this map. Limited new field mapping in the area was conducted as part of a mapping project in the Dillingham quadrangle to the south (Wilson and others, 2003); however, extensive aerial photograph interpretation represents the bulk of the mapping effort. The accompanying digital files show the sources for each line and geologic unit shown on the map.

  6. A geologic evaluation of thermal properties for the Elysium and Aeolis quadrangles of Mars

    Science.gov (United States)

    Zimbelman, James R.; Leshin, Laurie A.

    1987-01-01

    The results of an analysis of high-resolution thermal inertia data (obtained with the IR Thermal Mapper) for the Elysium and Aeolis quadrangles of Mars are presented. The results indicate that aeolian features, both with dark and light albedos relative to their surroundings, have thermal inertias higher than that of the surrounding terrains. On the other hand, terrains with distinctive surface relief do not have distinguishable thermal properties, even when these terrains can be spatially resolved from surrounding units. Thermal inertias for individual geologic units within the two quadrangles appear to be more strongly controlled by the location of the terrain in either the northern plains or the southern highlands than by properties intrinsic to the unit. The similarity of regional thermal properties observed at both high and low spatial resolutions indicates a regional homogeneity of much of the Martian surface at scales larger than 5 km.

  7. Structure of the Paleozoic rocks in the Tonkin Summit Quadrangle, Eureka County, Nevda

    Science.gov (United States)

    Arney, Eric

    Paleozoic rocks in the northern Simpson Park Range, Tonkin Summit Quadrangle, are comprised of the syn-orogenic Roberts Mountains allochthon, the postorogenic Permian Garden Valley Formation, and autochthonous Devonian carbonates. Complex deformation includes the Late Devonian-Early Mississippian, Antler Orogeny, post-Antler thrusting, and Cenozoic Basin and Range extension. The Roberts Mountains thrust caused eastward advancement of deep marine, mainly siliciclastic strata on top of the shelfal, mainly carbonate platform during the Antler Orogeny. This study shows that an east-vergent, post-Antler thrust, emplace the topographically higher carbonate outliers of the autochthon on top of the Roberts Mountains allochthon. These carbonate masses sit on top of the Henderson thrust in the Tonkin Summit Quadrangle and timing of this thrust is constrained to be post-Permian.

  8. A study of the CCG polymorphism in the IT15 cDNA in the Scottish Huntington`s disease and normal populations

    Energy Technology Data Exchange (ETDEWEB)

    Barron, L.H.; Rae, A.; Brock, D.J.H. [Univ. of Edinburgh (United Kingdom)] [and others

    1994-09-01

    The CCG rich sequence immediately 3{prime} to the CAG repeat that is expanded in Huntington`s disease (HD) has recently been shown to be polymorphic with at least 5 alleles differing by multiples of 3 bp being found in the normal population. We have studied the allele distribution in 200 Scottish HD families and have found very strong evidence for almost complete disequilibrium in this population. For all the families phase was unambiguously determined and 196 were shown to have a CCG repeat allele of 176 bp cosegregating with the HD chromosome. This observation is significantly different to the normal population distribution where 31% of people have an allele of 185 bp. This overrepresentation of the 176 bp allele is also seen in the normal population on chromosomes with greater than 26 CAG repeats. The DNA sequence across the CAG and CCG repeats has been obtained for the four HD patients that do not have a 176 bp CCG repeat size and will be presented. We present strong evidence of genetic heterogeneity in the Scottish HD population making it very unlikely that there is a founder effect in the Scottish HD population. These data suggest that we may have identified a region of the IT15 gene that is critical in the mechanism of Huntington`s disease CAG expansion.

  9. Integration of NURE and other data sets with emphasis on their utilization in generating exploration models in the Lubbock, TX 1/sup 0/ x 2/sup 0/ Quadrangle

    Energy Technology Data Exchange (ETDEWEB)

    Lankston, M.M.; Lankston, R.W.

    1979-05-01

    The study reviewed the geology of the region covered by the Lubbock, Texas 1/sup 0/ x 2/sup 0/ NTMS Quadrangle. The geology was integrated with NURE aerial radiometric data that had been recorded before the study was undertaken. The integration indicates that several of the geologic units in the area have recognizable radiometric signatures. These signatures were checked and substantiated by two ground radiometric survey systems, one truck-mounted and one hand-held. Numerous areas were seen which suggested that areas had been mismapped, that recent wind or stream action had modified the surface exposure of units, or that the radiometric data acquisition systems were able to detect surface units which were too small to be presented at the scale of the published geologic map. Two exploration models for the Lubbock region are proposed. The first and most obvious model involves basal Dockum (Triassic) sandstone which has been known for twenty years as a potentially economic uranium zone. The second model is more speculative. By integrating subsurface geologic data, NURE HSSR data, and ground and airborne radiometric data, a band of anomalies is seen extending in a generally north-south direction at the edge of the maximum eastern subsurface extent of Cretaceous rocks. Related to this band of anomalies is the group of very high radiometric anomalies over the Pleistocene lake basins in the southwestern corner of the study area. The basins also may be potential exploration targets.

  10. Spatial digital database for the geologic map of the east part of the Pullman 1° x 2° quadrangle, Idaho

    Science.gov (United States)

    Rember, William C.; Bennett, Earl H.

    2001-01-01

    he paper geologic map of the east part of the Pullman 1·x 2· degree quadrangle, Idaho (Rember and Bennett, 1979) was scanned and initially attributed by Optronics Specialty Co., Inc. (Northridge, CA) and remitted to the U.S. Geological Survey for further attribution and publication of the geospatial digital files. The resulting digital geologic map GIS can be queried in many ways to produce a variety of geologic maps. This digital geospatial database is one of many being created by the U.S. Geological Survey as an ongoing effort to provide geologic information in a geographic information system (GIS) for use in spatial analysis. Digital base map data files (topography, roads, towns, rivers and lakes, and others.) are not included: they may be obtained from a variety of commercial and government sources. This database is not meant to be used or displayed at any scale larger than 1:250,000 (for example, 1:100,000 or 1:24,000). The digital geologic map graphics and plot files (pull250k.gra/.hp /.eps) that are provided in the digital package are representations of the digital database.

  11. Geologic map of the Dillon 1 degree by 2 degrees Quadrangle, Idaho and Montana

    Science.gov (United States)

    Ruppel, E.T.; Lopez, D.A.; O'Neill, J. M.

    1993-01-01

    The digital ARC/INFO databases included in this website provide a GIS database for the geologic map of the Dillon 1 degree by 2 degree quadrangle of southwest Montana and east-central Idaho. The geologic map was originally published as U.S. Geological Survey Miscellaneous Investigations Series Map I-1803-H. This website directory contains ARC/INFO format files that can be used to query or display the geology of USGS Map I-1803-H with GIS software.

  12. Geologic map of the Hart Peak Quadrangle, California and Nevada: a digital database

    Science.gov (United States)

    Nielson, Jane E.; Turner, Ryan D.; Bedford, David R.

    1999-01-01

    The Hart Peak 1:24,000-scale quadrangle is located about 12 km southwest of Searchlight, Nevada, comprehending the eastern part of the Castle Peaks, California, and most of the Castle Mountains and the northwestern part of the Piute Range, in California and Nevada. The Castle Peaks area constitutes the northeasternmost part of the northeast-trending New York Mountains. The Castle Mountains straddle the California-Nevada State line between the Castle Peaks and north-trending Piute Range. The southern part of the Piute Range, near Civil War-era Fort Piute, adjoins Homer Mountain mapped by Spencer and Turner (1985). Adjacent and nearby 1:24,000-scale quadrangles include Castle Peaks, East of Grotto Hills, Homer Mountain, and Signal Hill, Calif.; also Tenmile Well and West of Juniper Mine, Calif. and Nev. The oldest rocks in the Hart Peak quadrangle are Early Proterozoic gneiss and foliated granite that crop out in the northern part of the quadrangle on the eastern flank of the Castle Peaks and in the central Castle Mountains (Wooden and Miller, 1990). Paleozoic rocks are uncommon and Mesozoic granitic rocks are not found in the map area. The older rocks are overlain nonconformably by several km of Miocene volcanic deposits, which accumulated in local basins. Local dikes and domes are sources of most Miocene eruptive units; younger Miocene intrusions cut all the older rocks. Upper Miocene to Quaternary gravel deposits interfinger with the uppermost volcanic flows; the contact between volcanic rocks and the gravel deposits is unconformable locally. Canyons and intermontane valleys contain dissected Quaternary alluvialfan deposits that are mantled by active drainage and alluvial fan detritus.

  13. Preliminary Image Map of the 2007 Buckweed Fire Perimeter, Agua Dulce Quadrangle, Los Angeles County, California

    Science.gov (United States)

    Clark, Perry S.; Scratch, Wendy S.; Bias, Gaylord W.; Stander, Gregory B.; Sexton, Jenne L.; Krawczak, Bridgette J.

    2008-01-01

    In the fall of 2007, wildfires burned out of control in southern California. The extent of these fires encompassed large geographic areas that included a variety of landscapes from urban to wilderness. The U.S. Geological Survey National Geospatial Technical Operations Center (NGTOC) is currently (2008) developing a quadrangle-based 1:24,000-scale image map product. One of the concepts behind the image map product is to provide an updated map in electronic format to assist with emergency response. This image map is one of 55 preliminary image map quadrangles covering the areas burned by the southern California wildfires. Each map is a layered, geo-registered Portable Document Format (.pdf) file. For more information about the layered geo-registered .pdf, see the readme file (http://pubs.usgs.gov/of/2008/1029/downloads/CA_Agua_Dulce_of2008-1029_README.txt). To view the areas affected and the quadrangles mapped in this preliminary project, see the map index (http://pubs.usgs.gov/of/2008/1029/downloads/CA_of2008_1029-1083_index.pdf) provided with this report.

  14. Preliminary Image Map of the 2007 Harris Fire Perimeter, Morena Reservoir Quadrangle, San Diego County, California

    Science.gov (United States)

    Clark, Perry S.; Scratch, Wendy S.; Bias, Gaylord W.; Stander, Gregory B.; Sexton, Jenne L.; Krawczak, Bridgette J.

    2008-01-01

    In the fall of 2007, wildfires burned out of control in southern California. The extent of these fires encompassed large geographic areas that included a variety of landscapes from urban to wilderness. The U.S. Geological Survey National Geospatial Technical Operations Center (NGTOC) is currently (2008) developing a quadrangle-based 1:24,000-scale image map product. One of the concepts behind the image map product is to provide an updated map in electronic format to assist with emergency response. This image map is one of 55 preliminary image map quadrangles covering the areas burned by the southern California wildfires. Each map is a layered, geo-registered Portable Document Format (.pdf) file. For more information about the layered geo-registered .pdf, see the readme file (http://pubs.usgs.gov/of/2008/1029/downloads/CA_Agua_Dulce_of2008-1029_README.txt). To view the areas affected and the quadrangles mapped in this preliminary project, see the map index (http://pubs.usgs.gov/of/2008/1029/downloads/CA_of2008_1029-1083_index.pdf) provided with this report.

  15. Preliminary Image Map of the 2007 Slide Fire Perimeter, Harrison Mountain Quadrangle, San Bernardino County, California

    Science.gov (United States)

    Clark, Perry S.; Scratch, Wendy S.; Bias, Gaylord W.; Stander, Gregory B.; Sexton, Jenne L.; Krawczak, Bridgette J.

    2008-01-01

    In the fall of 2007, wildfires burned out of control in southern California. The extent of these fires encompassed large geographic areas that included a variety of landscapes from urban to wilderness. The U.S. Geological Survey National Geospatial Technical Operations Center (NGTOC) is currently (2008) developing a quadrangle-based 1:24,000-scale image map product. One of the concepts behind the image map product is to provide an updated map in electronic format to assist with emergency response. This image map is one of 55 preliminary image map quadrangles covering the areas burned by the southern California wildfires. Each map is a layered, geo-registered Portable Document Format (.pdf) file. For more information about the layered geo-registered .pdf, see the readme file (http://pubs.usgs.gov/of/2008/1029/downloads/CA_Agua_Dulce_of2008-1029_README.txt). To view the areas affected and the quadrangles mapped in this preliminary project, see the map index (http://pubs.usgs.gov/of/2008/1029/downloads/CA_of2008_1029-1083_index.pdf) provided with this report.

  16. Airborne gamma-ray spectrometer and magnetometer survey, Roseburg Quadrangle, Oregon. Final report

    Energy Technology Data Exchange (ETDEWEB)

    1981-03-01

    An airborne high sensitivity gamma-ray spectrometer and magnetometer survey was conducted over ten (10) areas over northern California and southwestern Oregon. These include the 2/sup 0/ x 1/sup 0/ NTMS quadrangles of Roseburg, Medford, Weed, Alturas, Redding, Susanville, Ukiah, and Chico along with the 1/sup 0/ x 2/sup 0/ areas of the Coos Bay quadrangle and the Crescent City/Eureka areas combined. This report discusses the results obtained over the Roseburg, Oregon, map area. Traverse lines were flown in an east-west direction at a line spacing of six (6) miles. Tie lines were flown north-south approximately eighteen (18) miles apart. A total of 16,880.5 line miles of geophysical data were acquired, compiled, and interpreted during the survey, of which 1596 line miles are in this quadrangle. The purpose of this study is to acquire and compile geologic and other information with which to assess the magnitude and distribution of uranium resources and to determine areas favorable for the occurrence of uranium in the United States.

  17. Preliminary Image Map of the 2007 Witch Fire Perimeter, Santa Ysabel Quadrangle, San Diego County, California

    Science.gov (United States)

    Clark, Perry S.; Scratch, Wendy S.; Bias, Gaylord W.; Stander, Gregory B.; Sexton, Jenne L.; Krawczak, Bridgette J.

    2008-01-01

    In the fall of 2007, wildfires burned out of control in southern California. The extent of these fires encompassed large geographic areas that included a variety of landscapes from urban to wilderness. The U.S. Geological Survey National Geospatial Technical Operations Center (NGTOC) is currently (2008) developing a quadrangle-based 1:24,000-scale image map product. One of the concepts behind the image map product is to provide an updated map in electronic format to assist with emergency response. This image map is one of 55 preliminary image map quadrangles covering the areas burned by the southern California wildfires. Each map is a layered, geo-registered Portable Document Format (.pdf) file. For more information about the layered geo-registered .pdf, see the readme file (http://pubs.usgs.gov/of/2008/1029/downloads/CA_Agua_Dulce_of2008-1029_README.txt). To view the areas affected and the quadrangles mapped in this preliminary project, see the map index (http://pubs.usgs.gov/of/2008/1029/downloads/CA_of2008_1029-1083_index.pdf) provided with this report.

  18. Preliminary Image Map of the 2007 Witch Fire Perimeter, Warners Ranch Quadrangle, San Diego County, California

    Science.gov (United States)

    Clark, Perry S.; Scratch, Wendy S.; Bias, Gaylord W.; Stander, Gregory B.; Sexton, Jenne L.; Krawczak, Bridgette J.

    2008-01-01

    In the fall of 2007, wildfires burned out of control in southern California. The extent of these fires encompassed large geographic areas that included a variety of landscapes from urban to wilderness. The U.S. Geological Survey National Geospatial Technical Operations Center (NGTOC) is currently (2008) developing a quadrangle-based 1:24,000-scale image map product. One of the concepts behind the image map product is to provide an updated map in electronic format to assist with emergency response. This image map is one of 55 preliminary image map quadrangles covering the areas burned by the southern California wildfires. Each map is a layered, geo-registered Portable Document Format (.pdf) file. For more information about the layered geo-registered .pdf, see the readme file (http://pubs.usgs.gov/of/2008/1029/downloads/CA_Agua_Dulce_of2008-1029_README.txt). To view the areas affected and the quadrangles mapped in this preliminary project, see the map index (http://pubs.usgs.gov/of/2008/1029/downloads/CA_of2008_1029-1083_index.pdf) provided with this report.

  19. Airborne gamma-ray spectrometer and magnetometer survey, Medford Quadrangle Oregon. Final report

    Energy Technology Data Exchange (ETDEWEB)

    1981-04-01

    An airborne high sensitivity gamma-ray spectrometer and magnetometer survey was conducted over ten (10) areas over northern California and southwestern Oregon. These include the 2/sup 0/ x 1/sup 0/ NTMS quadrangles of Roseburg, Medford, Weed, Alturas, Redding, Susanville, Ukiah, and Chico along with the 1/sup 0/ x 2/sup 0/ areas of the Coos Bay quadrangle and the Crescent City/Eureka areas combined. This report discusses the results obtained over the Medford, Oregon, map area. Traverse lines were flown in an east-west direction at a line spacing of three miles. Tie lines were flown north-south approximately twelve miles apart. A total of 16,880.5 line miles of geophysical data were acquired, compiled, and interpreted during the survey, of which 2925 line miles are in this quadrangle. The purpose of this study is to acquire and compile geologic and other information with which to assess the magnitude and distribution of uranium resources and to determine areas favorable for the occurrence of uranium in the United States.

  20. Airborne gamma-ray spectrometer and magnetometer survey: Chico quadrangle, California. Final report

    Energy Technology Data Exchange (ETDEWEB)

    1981-05-01

    An airborne high sensitivity gamma-ray spectrometer and magnetometer survey was conducted over ten (10) areas over northern California and southwestern Oregon. These include the 2/sup 0/ x 1/sup 0/ NTMS quadrangles of Roseburg, Medford, Weed, Alturas, Redding, Susanville, Ukiah, and Chico along with the 1/sup 0/ x 2/sup 0/ areas of the Coos Bay quadrangle and the Crescent City/Eureka areas combined. This report discusses the results obtained over the Chico, California, map area. Traverse lines were flown in an east-west direction at a line spacing of three. Tie lines were flown north-south approximately twelve miles apart. A total of 16,880.5 line miles of geophysical data were acquired, compiled, and interpreted during the survey, of which 3026.4 line miles are in the quadrangle. The purpose of this study is to acquire and compile geologic and other information with which to assess the magnitude and distribution of uranium resources with which to assess the magnitude and distribution of uranium resources and to determine areas favorable for the occurrence of uranium in the United States.

  1. Geologic Map of the Pahranagat Range 30' x 60' Quadrangle, Lincoln and Nye Counties, Nevada

    Science.gov (United States)

    Jayko, A.S.

    2007-01-01

    Introduction The Pahranagat Range 30' x 60' quadrangle lies within an arid, sparsely populated part of Lincoln and Nye Counties, southeastern Nevada. Much of the area is public land that includes the Desert National Wildlife Range, the Pahranagat National Wildlife Refuge, and the Nellis Air Force Base. The topography, typical of much of the Basin and Range Province, consists of north-south-trending ranges and intervening broad alluvial valleys. Elevations range from about 1,000 to 2,900 m. At the regional scale, the Pahranagat Range quadrangle lies within the Mesozoic and early Tertiary Sevier Fold-and-Thrust Belt and the Cenozoic Basin and Range Province. The quadrangle is underlain by a Proterozoic to Permian miogeoclinal section, a nonmarine clastic and volcanic section of middle Oligocene or older to late Miocene age, and alluvial deposits of late Cenozoic age. The structural features that are exposed reflect relatively shallow crustal deformation. Mesozoic deformation is dominated by thrust faults and asymmetric or open folds. Cenozoic deformation is dominated by faults that dip more than 45i and dominostyle tilted blocks. At least three major tectonic events have affected the area: Mesozoic (Sevier) folding and thrust faulting, pre-middle Oligocene extensional deformation, and late Cenozoic (mainly late Miocene to Holocene) extensional deformation. Continued tectonic activity is expressed in the Pahranagat Range area by seismicity and faults having scarps that cut alluvial deposits.

  2. Preliminary Geological Map of the Fortuna Tessera (V-2) Quadrangle, Venus

    Science.gov (United States)

    Ivanov, M. A.; Head, J. W.

    2009-01-01

    The Fortuna Tessera quadrangle (50-75 N, 0-60 E) is a large region of tessera [1] that includes the major portion of Fortuna and Laima Tesserae [2]. Near the western edge of the map area, Fortuna Tessera is in contact with the highest moun-tain belt on Venus, Maxwell Montes. Deformational belts of Sigrun-Manto Fossae (extensional structures) and Au ra Dorsa (contractional structures) separate the tessera regions. Highly deformed terrains correspond to elevated regions and mildly deformed units are with low-lying areas. The sets of features within the V-2 quadrangle permit us to address the following important questions: (1) the timing and processes of crustal thickening/thinning, (2) the nature and origin of tesserae and deformation belts and their relation to crustal thickening processes, (3) the existence or absence of major evolutionary trends of volcanism and tectonics. The key feature in all of these problems is the regional sequence of events. Here we present description of units that occur in the V-2 quadrangle, their regional correlation chart (Fig. 1), and preliminary geological map of the region (Fig. 2).

  3. Measured Sections of Upper Paleozoic to Early Tertiary Rocks, Demarcation Point Quadrangle, Alaska

    Science.gov (United States)

    Detterman, Robert L.

    1984-01-01

    Introduction Twelve sections of upper Paleozoic to early Tertiary rocks from the Demarcation Point quadrangle and the northern edge of the Table Mountain quadrangle are presented. These measured sections include the type sections for the Joe Creek Member of the Echooka Formation (Section 11), the Bathtub Graywacke and Kongakut Formation (Section 9), and the unnamed early Tertiary rocks (Section 1). The early Tertiary rocks correlate closely with the Moose Channel Formation in the MacKenzie Delta, Candada (Detterman and Spicer, 1981). The sections were measured with a Jacob's staff during the geologic investigations of the Demarcation Point quadrangle in 1969 to 1971. The geologic map is published in generalized form (Detterman, 1974, 1976; Detterman and others, 1975). The sections are at a scale of 1 in to 100 ft, except for section 1, which is at 1 in to 200 ft. The location map shows the year and station number for each station. Fossils collected from these rocks and marked by and asterisk (*) are included in Detterman and others, 1975 (p. 42-45). A double asterisk (**) indicates they are included in the list below. All other fossil indicators mean fossils are present, but not collected.

  4. Airborne gamma-ray spectrometer and magnetometer survey: Ukiah quadrangle, California. Final report

    Energy Technology Data Exchange (ETDEWEB)

    1981-05-01

    An airborne high sensitivity gamma-ray spectrometer and magnetometer survey was conducted over ten (10) areas over northern California and southwestern Oregon. These include the 2/sup 0/ x 1/sup 0/ NTMS quadrangles of Roseburg, Medford, Weed, Alturas, Redding, Susanville, Ukiah, and Chico along with the 1/sup 0/ x 2/sup 0/ areas of the Coos Bay quadrangle and the Crescent City/Eureka areas combined. This report discusses the results obtained over the Ukiah, California, map area. Traverse lines were flown in an east-west direction at a line spacing of six (6) miles. Tie lines were flown north-south approximately eighteen (18) miles apart. A total of 16,880.5 line miles of geophysical data were acquired, compiled, and interpreted during the survey, of which 1517 line miles are in this quadrangle. The purpose of this study is to acquire and compile geologic and other information with which to assess the magnitude and distribution of uranium resources and to determine areas favorable for the occurrence of uranium in the United States.

  5. Elliptic ovoids and their rosettes in a classical generalized quadrangle of even order

    Indian Academy of Sciences (India)

    ILARIA CARDINALI; N S NARASIMHA SASTRY

    2016-10-01

    Let $\\mathcal{Q}_0$ be the classical generalized quadrangle of order $q = 2^{n}(n \\geq 2)$ arising from a non-degenerate quadratic form in a 5-dimensional vector space defined over a finite field of order $q$. We consider the rank two geometry $\\mathcal{X}$ having as points all the elliptic ovoids of $\\mathcal{Q}^0$ and as lines the maximal pencils of elliptic ovoids of $\\mathcal{Q}_0$ pairwise tangent at the same point. We first prove that $\\mathcal{X}$ is isomorphic to a 2-fold quotient of the affine generalized quadrangle $\\mathcal{Q} \\backslash \\mathcal{Q}_0$, where $\\mathcal{Q}$ is the classical $(q, q^2)$- generalized quadrangle admitting $\\mathcal{Q}_0$ as a hyperplane. Further, we classify the cliques in the collinearity graph $\\Gamma$ of $\\mathcal{X}$. We prove that any maximal clique in $\\Gamma$ is either a line of $\\mathcal{X}$ or it consists of 6 or 4 points of $\\mathcal{X}$ not contained in any line of $\\mathcal{X}$, accordingly as $n$ is odd or even.We count the number of cliques of each type and show that those cliques which are not contained in lines of $\\mathcal{X}$ arise as subgeometries of $\\mathcal{Q}$ defined over $\\mathbb{F}_2$

  6. 76 FR 60492 - Adequacy Status of the Ohio Portion of the Huntington/Ashland Submitted Annual Fine Particulate...

    Science.gov (United States)

    2011-09-29

    ..., starting at 69 FR 40038, and we used the information in these resources in making our adequacy... AGENCY Adequacy Status of the Ohio Portion of the Huntington/Ashland Submitted Annual Fine Particulate... Ohio portion of the Huntington/Ashland WV-KY-OH area. Ohio submitted the insignificance findings...

  7. HTT-lowering reverses Huntington's disease immune dysfunction caused by NFκB pathway dysregulation.

    Science.gov (United States)

    Träger, Ulrike; Andre, Ralph; Lahiri, Nayana; Magnusson-Lind, Anna; Weiss, Andreas; Grueninger, Stephan; McKinnon, Chris; Sirinathsinghji, Eva; Kahlon, Shira; Pfister, Edith L; Moser, Roger; Hummerich, Holger; Antoniou, Michael; Bates, Gillian P; Luthi-Carter, Ruth; Lowdell, Mark W; Björkqvist, Maria; Ostroff, Gary R; Aronin, Neil; Tabrizi, Sarah J

    2014-03-01

    Huntington's disease is an inherited neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin gene. The peripheral innate immune system contributes to Huntington's disease pathogenesis and has been targeted successfully to modulate disease progression, but mechanistic understanding relating this to mutant huntingtin expression in immune cells has been lacking. Here we demonstrate that human Huntington's disease myeloid cells produce excessive inflammatory cytokines as a result of the cell-intrinsic effects of mutant huntingtin expression. A direct effect of mutant huntingtin on the NFκB pathway, whereby it interacts with IKKγ, leads to increased degradation of IκB and subsequent nuclear translocation of RelA. Transcriptional alterations in intracellular immune signalling pathways are also observed. Using a novel method of small interfering RNA delivery to lower huntingtin expression, we show reversal of disease-associated alterations in cellular function-the first time this has been demonstrated in primary human cells. Glucan-encapsulated small interfering RNA particles were used to lower huntingtin levels in human Huntington's disease monocytes/macrophages, resulting in a reversal of huntingtin-induced elevated cytokine production and transcriptional changes. These findings improve our understanding of the role of innate immunity in neurodegeneration, introduce glucan-encapsulated small interfering RNA particles as tool for studying cellular pathogenesis ex vivo in human cells and raise the prospect of immune cell-directed HTT-lowering as a therapeutic in Huntington's disease.

  8. Striatal and white matter predictors of estimated diagnosis for Huntington disease

    Science.gov (United States)

    Paulsen, Jane S.; Nopoulos, Peggy C.; Aylward, Elizabeth; Ross, Christopher A.; Johnson, Hans; Magnotta, Vincent A.; Juhl, Andrew; Pierson, Ronald K.; Mills, James; Langbehn, Douglas; Nance, Martha

    2010-01-01

    Previous MRI studies with participants prior to manifest Huntington disease have been conducted in small single-site samples. The current study reports data from a systematic multi-national study during the prodromal period of Huntington disease and examines whether various brain structures make unique predictions about the proximity to manifest disease. MRI scans were acquired from 657 participants enrolled at one of 32 PREDICT-HD research sites. Only prodromal Huntington disease participants (those not meeting motor criteria for diagnosis) were included and subgrouped by estimated diagnosis proximity (Near, Mid, and Far) based upon a formula incorporating age and CAG repeat length. Results show volumes of all three subgroups differed significantly from Controls for total brain tissue, cerebral spinal fluid, white matter, cortical gray matter, thalamus, caudate, and putamen. Total striatal volume demonstrated the largest differences between Controls and all three prodromal subgroups. Cerebral white matter offered additional independent power in the prediction of estimated proximity to diagnosis. In conclusion, this large cross-sectional study shows that changes in brain volume are detectable years to decades prior to estimated motor diagnosis of Huntington disease. This suggests that a clinical trial of a putative neuroprotective agent could begin as much as 15 years prior to estimated motor diagnosis in a cohort of persons at risk for but not meeting clinical motor diagnostic criteria for Huntington disease, and that neuroimaging (striatal and white matter volumes) may be among the best predictors of diagnosis proximity. PMID:20385209

  9. Huntington disease skeletal muscle is hyperexcitable owing to chloride and potassium channel dysfunction.

    Science.gov (United States)

    Waters, Christopher W; Varuzhanyan, Grigor; Talmadge, Robert J; Voss, Andrew A

    2013-05-28

    Huntington disease is a progressive and fatal genetic disorder with debilitating motor and cognitive defects. Chorea, rigidity, dystonia, and muscle weakness are characteristic motor defects of the disease that are commonly attributed to central neurodegeneration. However, no previous study has examined the membrane properties that control contraction in Huntington disease muscle. We show primary defects in ex vivo adult skeletal muscle from the R6/2 transgenic mouse model of Huntington disease. Action potentials in diseased fibers are more easily triggered and prolonged than in fibers from WT littermates. Furthermore, some action potentials in the diseased fibers self-trigger. These defects occur because of decreases in the resting chloride and potassium conductances. Consistent with this, the expression of the muscle chloride channel, ClC-1, in Huntington disease muscle was compromised by improper splicing and a corresponding reduction in total Clcn1 (gene for ClC-1) mRNA. Additionally, the total Kcnj2 (gene for the Kir2.1 potassium channel) mRNA was reduced in disease muscle. The resulting muscle hyperexcitability causes involuntary and prolonged contractions that may contribute to the chorea, rigidity, and dystonia that characterize Huntington disease.

  10. Striatal and white matter predictors of estimated diagnosis for Huntington disease.

    Science.gov (United States)

    Paulsen, Jane S; Nopoulos, Peggy C; Aylward, Elizabeth; Ross, Christopher A; Johnson, Hans; Magnotta, Vincent A; Juhl, Andrew; Pierson, Ronald K; Mills, James; Langbehn, Douglas; Nance, Martha

    2010-05-31

    Previous MRI studies with participants prior to manifest Huntington disease have been conducted in small single-site samples. The current study reports data from a systematic multi-national study during the prodromal period of Huntington disease and examines whether various brain structures make unique predictions about the proximity to manifest disease. MRI scans were acquired from 657 participants enrolled at 1 of 32 PREDICT-HD research sites. Only prodromal Huntington disease participants (those not meeting motor criteria for diagnosis) were included and subgrouped by estimated diagnosis proximity (Near, Mid, and Far) based upon a formula incorporating age and CAG-repeat length. Results show volumes of all three subgroups differed significantly from Controls for total brain tissue, cerebral spinal fluid, white matter, cortical gray matter, thalamus, caudate, and putamen. Total striatal volume demonstrated the largest differences between Controls and all three prodromal subgroups. Cerebral white matter offered additional independent power in the prediction of estimated proximity to diagnosis. In conclusion, this large cross-sectional study shows that changes in brain volume are detectable years to decades prior to estimated motor diagnosis of Huntington disease. This suggests that a clinical trial of a putative neuroprotective agent could begin as much as 15 years prior to estimated motor diagnosis in a cohort of persons at risk for but not meeting clinical motor diagnostic criteria for Huntington disease, and that neuroimaging (striatal and white matter volumes) may be among the best predictors of diagnosis proximity.

  11. Microporosity of BIF hosted massive hematite ore, Iron Quadrangle, Brazil

    Directory of Open Access Journals (Sweden)

    CÉSAR A.C. VARAJÃO

    2002-03-01

    Full Text Available Massive hematite ore (MHO is a special high-grade iron ore, used as lump ore in the process of obtaining direct reduction iron (DRI. The influence of porosity on the reducibility of MHO from the Capitão do Mato Mine (Iron Quadrangle, Brazil was investigated using optical and scanning electron microscopes on drill core and open pit samples. Hematite is the main component of the samples and occurs as granular crystals (10 mum, microplates (1 mum and euhedral martite (10 to 30 mum. Quartz, maghemite, kenomagnetite and goethite are minor components. Primary micropores (Å to 1 mum are associated with microplaty crystals that fill cavities between granular hematite. Secondary micropores (Å to 5 mum related to euhedral martite crystals, are the most important. The total porosity of weathered samples, measured using nitrogen adsorption and mercury injection, attains values up to 11%, whereas unweathered samples have a porosity less than 2.5%. Reducibility is strongly enhanced by porosity, but inhibited by structure (bedding.O minério de hematita compacta (MHC é um tipo de minério de ferro de alto grau usado como minério granulado na obtenção do ferro via redução direta (DRI. A influência da porosidade sobre a redutibilidade do MHC da Mina de Capitão do Mato (Quadrilátero Ferrífero, Brasil, foi investigada em amostras de furos de sonda e de afloramentos da mina, usando-se microscópio óptico e eletrônico de varredura. Hematita é o principal componente mineralógico e ocorre sob diferentes formas: granular (10 mim, microtabular (1 mim e euédrico (10 a 30 mim. Quartzo maghemita, kenomagnetita e goethita são componetes menores. Microporos primários (Å to 1 mim associam-se a cristais de hematita microtabular, que preenchem espaços entre cristais de hematita granular. Microporos secundários (Å to 5 mim, relacionados com os cristais de martita euédrica, são os mais importantes. A porosidade total das amostras do MHC, medida atrav

  12. Geologic map of the Rifle Falls quadrangle, Garfield County, Colorado

    Science.gov (United States)

    Scott, Robert B.; Shroba, Ralph R.; Egger, Anne

    2001-01-01

    New 1:24,000-scale geologic map of the Rifle Falls 7.5' quadrangle, in support of the USGS Western Colorado I-70 Corridor Cooperative Geologic Mapping Project, provides new interpretations of the stratigraphy, structure, and geologic hazards in the area of the southwest flank of the White River uplift. Bedrock strata include the Upper Cretaceous Iles Formation through Ordovician and Cambrian units. The Iles Formation includes the Cozzette Sandstone and Corcoran Sandstone Members, which are undivided. The Mancos Shale is divided into three members, an upper member, the Niobrara Member, and a lower member. The Lower Cretaceous Dakota Sandstone, the Upper Jurassic Morrison Formation, and the Entrada Sandstone are present. Below the Upper Jurassic Entrada Sandstone, the easternmost limit of the Lower Jurassic and Upper Triassic Glen Canyon Sandstone is recognized. Both the Upper Triassic Chinle Formation and the Lower Triassic(?) and Permian State Bridge Formation are present. The Pennsylvanian and Permian Maroon Formation is divided into two members, the Schoolhouse Member and a lower member. All the exposures of the Middle Pennsylvanian Eagle Evaporite intruded into the Middle Pennsylvanian Eagle Valley Formation, which includes locally mappable limestone beds. The Middle and Lower Pennsylvanian Belden Formation and the Lower Mississippian Leadville Limestone are present. The Upper Devonian Chaffee Group is divided into the Dyer Dolomite, which is broken into the Coffee Pot Member and the Broken Rib Member, and the Parting Formation. Ordovician through Cambrian units are undivided. The southwest flank of the White River uplift is a late Laramide structure that is represented by the steeply southwest-dipping Grand Hogback, which is only present in the southwestern corner of the map area, and less steeply southwest-dipping older strata that flatten to nearly horizontal attitudes in the northern part of the map area. Between these two is a large-offset, mid

  13. Factors associated with Mediterranean diet adherence in Huntington's disease.

    Science.gov (United States)

    Rivadeneyra, Jéssica; Cubo, Esther; Gil, Cecilia; Calvo, Sara; Mariscal, Natividad; Martínez, Asunción

    2016-04-01

    Little is known about the importance of the Mediterranean Diet (MeDi) and dietary intake as environmental neuroprotective factors in Huntington's disease (HD); so, we evaluated and analyzed the prevalence and factors associated with MeDi adherence, and dietary intake in HD. Spanish participants of the European Huntington Disease Network (EHDN) Registry study diagnosed with HD or premanifest HD gene carriers were included from June 2012 to August 2013. Self-reported dietary intake was collected by 3-day dietary record, MeDi adherence was assessed by 0-9 range (proposed by Trichopoulou et al.) and, other contributing factors related to nutrition were collected by telephone. Demographics and clinical variables were obtained from the EHDN Registry study database. Association of HD with MeDi adherence and nutritional characteristics were performed using logistic regression models. Ninety eight participants were included in the study, median age of 48 years (38-60 range), and median total functional capacity (TFC) 9 (5-13 range). HD severity was similar between participants with low vs moderate/high MeDi; however, quality of life (P = 0.009) was significantly higher among participants with moderate/high MeDi adherence. In terms of nutrients, higher MUFA/SFA intake was moderately correlated with better TFC and Unified HD Rating Scale (UHDRS) cognitive. Better TFC was associated with having a caregiver (OR = 11.86, P adherence to MeDi, was associated with older participants (OR = 1.19, P = 0.031), lower comorbidity (OR = 0.18, P = 0.018), lower UHDRS motor (OR = 0.90, P = 0.041), and lower risk for abdominal obesity (OR = 0.02, P = 0.011). In HD the moderate MeDi adherence is associated with better quality of life, lower comorbidity, lower motor impairment and lower risk for abdominal obesity compared to those participants with low MeDi adherence. Copyright © 2016 European Society for Clinical Nutrition and Metabolism. Published by Elsevier Ltd. All

  14. Geologic map of the Jam Up Cave and Pine Crest quadrangles, Shannon, Texas, and Howell Counties, Missouri

    Science.gov (United States)

    Weary, David J.; Orndorff, Randall C.; Repetski, John E.

    2013-01-01

    The Jam Up Cave and Pine Crest 7.5-minute quadrangles are located in south-central Missouri within the Salem Plateau region of the Ozark Plateaus physiographic province. About 2,400 to 3,100 feet (ft) of flat-lying to gently dipping Lower Paleozoic sedimentary rocks, mostly dolomite, chert, sandstone, and orthoquartzite, overlie Mesoproterozoic igneous basement rocks. Unconsolidated residuum, colluvium, terrace deposits, and alluvium overlie the sedimentary rocks. Numerous karst features, such as sinkholes, caves, and springs, have formed in the carbonate rocks. Many streams are spring fed. The topography is a dissected karst plain with elevations ranging from about 690 ft where the Jacks Fork River exits the northeastern corner of the Jam Up Cave quadrangle to about 1,350 ft in upland areas along the north-central edge and southwestern corner of the Pine Crest quadrangle. The most prominent physiographic feature is the valley of the Jacks Fork River. This reach of the upper Jacks Fork, with its clean, swiftly-flowing water confined by low cliffs and bluffs, provides one of the most beautiful canoe float trips in the nation. Most of the land in the quadrangles is privately owned and used primarily for grazing cattle and horses and growing timber. A large minority of the land within the quadrangles is publicly owned by the Ozark National Scenic Riverways of the National Park Service. Geologic mapping for this investigation was conducted in 2005 and 2006.

  15. ENFERMEDAD DE HUNTINGTON: MODELOS EXPERIMENTALES Y PERSPECTIVAS TERAPÉUTICAS Huntington'disease: Experimentals Models and Therapeutic Perspectives

    Directory of Open Access Journals (Sweden)

    TERESA SERRANO SÁNCHEZ

    Full Text Available La enfermedad de Huntington (EH es un trastorno degenerativo de Weiss de origen hereditario. Hasta el momento no existe un tratamiento efectivo para la enfermedad que inexorablemente después de transcurridos 15 a 20 años, evoluciona hacia incapacidad total o muerte. En este trabajo se revisan las características clínicas y morfológicas de la EH y los modelos experimentales más utilizados para su estudio tomando como fuente, artículos indexados en la base de datos Medline publicados en los últimos 20 años. Se valoran las ventajas y desventajas de estos modelos y su perspectiva para el desarrollo de ensayos clínicos. El consenso de lo reportado plantea que de los modelos tóxicos, los inducidos por neurotoxinas tales como ácido quinolínico parecen ser los más adecuados para reproducir las características neuropatológicas, y por otro lado los modelos genéticos contribuyen con más evidencias al conocimiento del origen etiológico de la enfermedad. Numerosos tratamientos han sido aplicados en el manejo de las manifestaciones clínicas que aparecen en EH, sin poder detener o disminuir las afectaciones que derivan de la pérdida neuronal. La sintomatología clínica ha sido posible reproducirla, al menos en parte, en animales de experimentación lo que ha permitido realizar ensayos terapéuticos. Desde el punto de vista de tratamiento, lo que más promisorio parece ser, la terapia celular con células provenientes de diferentes fuentes y dentro de ellas las no neurales, que implican menor censura ética y mayor factibilidad de obtención para la aplicación en los enfermos. Por otro lado el desarrollo de la tecnología del ARN de interferencia, emerge como una herramienta terapéutica potencial para el tratamiento de EH, así como para responder interrogantes básicas relacionadas con el desarrollo de la enfermedad.Huntington'disease (HD is a degenerative dysfunction of hereditary origin. Up to date there is not, an effective treatment

  16. Geological Mapping of the Ac-H-13 Urvara Quadrangle of Ceres from NASA's Dawn Mission

    Science.gov (United States)

    Sizemore, Hanna; Williams, David; Platz, Thomas; Mest, Scott; Yingst, Aileen; Crown, David; O'Brien, David; Buczkowski, Debra; Schenk, Paul; Scully, Jennifer; Jaumann, Ralf; Roatsch, Thomas; Preusker, Frank; Nathues, Andreas; De Sanctis, Maria Cristina; Russell, Christopher; Raymond, Carol

    2016-04-01

    The Dawn Science Team is conducting a geologic mapping campaign for Ceres similar to that done for Vesta [1,2], including production of a Survey- and High Altitude Mapping Orbit (HAMO)-based global map, and a series of 15 Low Altitude Mapping Orbit (LAMO)-based quadrangle maps. In this abstract we discuss the geologic evolution of the Ac-H-13 Urvara Quadrangle. At the time of this writing LAMO images (35 m/pixel) are just becoming available. Thus, our geologic maps are based on HAMO images (140 m/pixel) and Survey (400 m/pixel) digital ter-rain models (for topographic information). Dawn Framing Camera (FC) color images are also used to provide context for map unit identification. The maps to be presented as posters will be updated from analyses of LAMO images. The Urvara Quadrangle is dominated by the 170-km diameter impact basin Urvara (46.4°S, 248.6°E) and includes cratered terrain to the west. Named features include the impact craters Meanderi (40.9°S, 193.7°E, 103 km diameter), Sekhet (66.4°S, 254.9°E, 41 km diameter), and Fluusa (31.5°S, 277.9°E), as well as the crater chains Gerber Catena (38.1°S, 214.8°E) and Sam-hain Catena (19.6°S, 210.3°E). Based on preliminary geologic mapping [3,4], we interpret the two prominent catenae as pit craters associated with large scale tectonism rather than secondary impacts. We interpret two large curvilinear depressions near the eastern quadrangle boundary as secondary crater chains resulting from the Urvara impact. Textural and morphological asymme-tries in crater materials within the quadrangle indicate heterogeneities in subsurface composition and volatile content. Features on the Urvara basin floor are consistent with impact fluidization of target materials; post impact extrusion of volatile rich material may have also played a minor role. References: [1] Williams D.A. et al. (2014) Icarus, 244, 1-12. [2] Yingst R.A. et al. (2014) PSS, 103, 2-23. [3] Sizemore et al. (2015) GSA Abstracts with Program

  17. [IT15 gene analysis in two pedigrees of Huntington's disease].

    Science.gov (United States)

    Zhang, Bao-Rong; Song, Fei; Yin, Xin-Zhen; Xia, Kun; Tian, Jun; Huang, Jian-Zheng; Xia, Jia-Hui

    2006-11-01

    To investigate the relationship between the clinical features and (CAG)n trinucleotide repeats in two pedigrees of Chinese Huntington's disease (HD). Clinical and neuroimaging features, the age of disease onset and pattern of transmission of the patients were studied in the two pedigrees of HD. Genomic DNA of 42 family members was used for amplification of the (CAG)n repeats of IT15 gene by PCR. The numbers of (CAG)n were determined by electrophoresis through a 6% polyacrylamide gel and direct sequence analysis. Results showed that patients in pedigree 1 were absent of the typical triad of HD symptoms or caudate atrophy. A total of 9 (5 patients and 4 asymptomatic) out of 18 family members had 40-50 (CAG)n repeats in the IT15 gene. In pedigree 2, all the patients were characterized by a triad of symptoms, including motor disturbance, cognitive impairment and psychiatric features. Three patients and two asymptomatic relatives had more than 50 (CAG)n repeats in the IT15 gene. In conclusion, the clinical symptoms are partly determined by (CAG)n repeats in the IT15 gene. The age of onset was correlated with (CAG)n repeats over 50, and the phenomenon called "anticipation" was found to have played a role.

  18. Familial aggregation of schizophrenia-like symptoms in Huntington's disease.

    Science.gov (United States)

    Tsuang, D; DiGiacomo, L; Lipe, H; Bird, T D

    1998-07-10

    An increased incidence of schizophrenia-like symptoms in Huntington's disease (HD) has been well-documented in the past. The reasons for this association, however, have never been explained. At the University of Washington Medical Genetics Clinic, we had the opportunity to evaluate a unique juvenile-onset HD proband who had schizophrenia-like symptoms. This patient was referred to our clinic because of new onset of somatic delusions and command auditory hallucinations early in the course of her illness. Since we had already evaluated other affected individuals in her family, we selected another family with a nonpsychotic juvenile-onset proband for comparison. Using these two families in a small case-control study, we investigated the following hypotheses which could explain the association between schizophrenia-like symptoms and HD: first, schizophrenia-like symptoms may be related to the number of CAG repeats in the HD gene; second, schizophrenia-like symptoms may segregate in certain HD families, for unknown reasons; and third, there may coincidentally be an unrelated gene for schizophrenia in certain HD families. Comparisons of clinical characteristics and the HD genotype showed that family history of schizophrenia-like symptoms segregated with the HD gene; however, age of onset of HD, size of CAG repeat, and sex of the transmitting parent were not associated with psychotic symptoms. Further genetic and neurobiological studies are necessary to investigate the potential mechanism underlying this association.

  19. The Role of Dopamine and Glutamate Modulation in Huntington Disease

    Science.gov (United States)

    Mittal, Sumeer K.; Eddy, Clare

    2013-01-01

    Background: Huntington disease (HD) is an inherited neuropsychiatric condition with progressive neurodegenerative changes, mainly affecting the striatum. Pathological processes within the striatum are likely to lead to alterations in dopamine and glutamate activity in frontostriatal circuitry, resulting in characteristic motor, behavioural and cognitive symptoms. Methods: We conducted a systematic literature search in order to identify and review randomised, double-blinded, placebo-controlled trials of anti-dopaminergic and anti-glutamatergic therapy in HD. Results: Ten studies satisfied our selection criteria. These studies investigated a range of agents which act to antagonise dopamine (tetrabenazine, typical and atypical antipsychotics) or glutamate (amantadine, riluzole) transmission. Discussion: Although most agents showed efficacy in terms of amelioration of chorea, the available evidence did not allow us to identify a universally effective treatment. One difficulty associated with analysing the available evidence was a high prevalence of side effects, which prevented the full therapeutic potential of the medications from being adequately investigated. A further limitation is that many studies evaluated treatment effectiveness only in relation to patients' motor symptoms, even though behavioural and cognitive changes may negatively impact patients' quality of life. There is a clear need for further higher-level evidence addressing the effects of dopaminergic and glutamatergic agents on global functioning in HD. PMID:22713410

  20. [Huntington disease: presymptomatic testing, prenatal diagnosis, preimplantation genetic diagnosis experience].

    Science.gov (United States)

    Durr, A; Viville, S

    2007-10-01

    Presymptomatic testing for Huntington disease has been available for 15 years. The possibility of determining the genetic status of an at-risk person for the disorder which runs in his or her family raises questions because of the absence of preventive treatments. In addition, being carrier does not allow to determine when the disease starts and how it will evolve, impairing the possibilities of planning the future. A pluridisciplinary approach to predictive testing with care before, during and after the test taking into account the medical, social and psychological aspects of the disease is good practice. At the present time, only a minority of at-risk individuals request presymptomatic testing and almost 50% do not pursue until the results. The consequences of the test may be harmful, more frequently after an unfavorable than after a favorable result. Motivations and the outcome in terms of request for prenatal testing after a carrier result are known today and the number or prenatal testing remains very limited. Preimplantation genetic testing is an alternative for couples who knows or do not their own genetic status. We report our experience in two French centres: Paris for presymptomatic and prenatal testing and Strasbourg for preimplantation diagnosis.

  1. Cardiac Dysfunction in the BACHD Mouse Model of Huntington's Disease.

    Directory of Open Access Journals (Sweden)

    Analyne M Schroeder

    Full Text Available While Huntington's disease (HD is classified as a neurological disorder, HD patients exhibit a high incidence of cardiovascular events leading to heart failure and death. In this study, we sought to better understand the cardiovascular phenotype of HD using the BACHD mouse model. The age-related decline in cardiovascular function was assessed by echocardiograms, electrocardiograms, histological and microarray analysis. We found that structural and functional differences between WT and BACHD hearts start at 3 months of age and continue throughout life. The aged BACHD mice develop cardiac fibrosis and ultimately apoptosis. The BACHD mice exhibited adaptive physiological changes to chronic isoproterenol treatment; however, the medication exacerbated fibrotic lesions in the heart. Gene expression analysis indicated a strong tilt toward apoptosis in the young mutant heart as well as changes in genes involved in cellular metabolism and proliferation. With age, the number of genes with altered expression increased with the large changes occurring in the cardiovascular disease, cellular metabolism, and cellular transport clusters. The BACHD model of HD exhibits a number of changes in cardiovascular function that start early in the disease progress and may provide an explanation for the higher cardiovascular risk in HD.

  2. Tractography of the corpus callosum in Huntington's disease.

    Directory of Open Access Journals (Sweden)

    Owen Phillips

    Full Text Available White matter abnormalities have been shown in presymptomatic and symptomatic Huntington's disease (HD subjects using Magnetic Resonance Imaging (MRI and Diffusion Tensor Imaging (DTI methods. The largest white matter tract, the corpus callosum (CC, has been shown to be particularly vulnerable; however, little work has been done to investigate the regional specificity of tract abnormalities in the CC. Thus, this study examined the major callosal tracts by applying DTI-based tractography. Using TrackVis, a previously defined region of interest tractography method parcellating CC into seven major tracts based on target region was applied to 30 direction DTI data collected from 100 subjects: presymptomatic HD (Pre-HD subjects (n=25, HD patients (n=25 and healthy control subjects (n=50. Tractography results showed decreased fractional anisotropy (FA and increased radial diffusivity (RD across broad regions of the CC in Pre-HD subjects. Similar though more severe deficits were seen in HD patients. In Pre-HD and HD, callosal FA and RD were correlated with Disease Burden/CAG repeat length as well as motor (UHDRSI and cognitive (URDRS2 assessments. These results add evidence that CC pathways are compromised prior to disease onset with possible demyelination occurring early in the disease and suggest that CAG repeat length is a contributing factor to connectivity deficits. Furthermore, disruption of these callosal pathways potentially contributes to the disturbances of motor and cognitive processing that characterize HD.

  3. Therapeutic Effect of Berberine on Huntington's Disease Transgenic Mouse Model.

    Directory of Open Access Journals (Sweden)

    Wenxiao Jiang

    Full Text Available Huntington disease (HD represents a family of neurodegenerative diseases that are caused by misfolded proteins. The misfolded proteins accumulate in the affected brain regions in an age-dependent manner to cause late-onset neurodegeneration. Transgenic mouse models expressing the HD protein, huntingtin, have been widely used to identify therapeutics that may retard disease progression. Here we report that Berberine (BBR, an organic small molecule isolated from plants, has protective effects on transgenic HD (N171-82Q mice. We found that BBR can reduce the accumulation of mutant huntingtin in cultured cells. More importantly, when given orally, BBR could effectively alleviate motor dysfunction and prolong the survival of transgenic N171-82Q HD mice. We found that BBR could promote the degradation of mutant huntingtin by enhancing autophagic function. Since BBR is an orally-taken drug that has been safely used to treat a number of diseases, our findings suggest that BBR can be tested on different HD animal models and HD patients to further evaluate its therapeutic effects.

  4. Triplet repeat primed PCR simplifies testing for Huntington disease.

    Science.gov (United States)

    Jama, Mohamed; Millson, Alison; Miller, Christine E; Lyon, Elaine

    2013-03-01

    Diagnostic and predictive testing for Huntington disease (HD) requires an accurate determination of the number of CAG repeats in the Huntingtin (HHT) gene. Currently, when a sample appears to be homozygous for a normal allele, additional testing is required to confirm amplification from both alleles. If the sample still appears homozygous, Southern blot analysis is performed to rule out an undetected expanded HTT allele. Southern blot analysis is expensive, time-consuming, and labor intensive and requires high concentrations of DNA. We have developed a chimeric PCR process to help streamline workflow; true homozygous alleles are easily distinguished by this simplified method, and only very large expanded alleles still require Southern blot analysis. Two hundred forty-six HD samples, previously run with a different fragment analysis method, were analyzed with our new method. All samples were correctly genotyped, resulting in 100% concordance between the methods. The chimeric PCR assay was able to identify expanded alleles up to >150 CAG repeats. This method offers a simple strategy to differentiate normal from expanded CAG alleles, thereby reducing the number of samples reflexed to Southern blot analysis. It also provides assurance that expanded alleles are not routinely missed because of allele dropout.

  5. Advances in the pharmacological management of Huntington's disease.

    Science.gov (United States)

    Frank, Samuel; Jankovic, Joseph

    2010-03-26

    There is inevitable physical, cognitive and behavioural decline in Huntington's disease (HD), a dominantly inherited progressive neurological disorder. The hallmark of the disease is chorea, an involuntary brief movement that tends to flow between body regions. HD is diagnosed clinically with genetic confirmation. Predictive testing is available; however, it should be undertaken with caution in patients at risk for the disease but without clinical disease expression. Ongoing observational trials have identified not only early subtle motor signs, but also striatal volume, verbal memory and olfaction as possible early manifestations of clinical disease. Multiple areas of the brain degenerate, with dopamine, glutamate and GABA being the predominant neurotransmitters affected in HD. Although many pharmacotherapies have been evaluated targeting these neurotransmitters, few well conducted trials for symptomatic or neuroprotective interventions have yielded positive results. Tetrabenazine is one of the better studied and more effective agents for reducing chorea, although with a risk of potentially serious adverse effects. Newer antipsychotic agents such as olanzapine and aripiprazole may have adequate efficacy with a more favourable adverse-effect profile than older antipsychotics for treating chorea and psychosis. In this review, the pathogenesis, epidemiology and diagnosis of HD are discussed as background for understanding potential pharmacological treatment options. Potential strategies to delay the progression of HD that have been studied and are planned for the future are summarized. Although there is no current method to change the course of this devastating disease, education and symptomatic therapies are effective tools available to clinicians and the families affected by HD.

  6. Genetic Testing for Huntington's Disease: How Is the Decision Taken?

    Science.gov (United States)

    Etchegary, Holly

    2006-01-01

    Research on genetic decision-making normally constructs the decision as an opportunity for choice. However, minimal research investigates how these decisions are taken and whether those who live with genetic risk perceive the test as an opportunity for choice. Employing semistructured interviews with at-risk persons, this study explored decisions about genetic testing for Huntington's disease (HD)--a fatal genetic disorder. A primary aim was to understand how test decisions were perceived. Qualitative data analysis revealed four decision pathways: (1) no decision to be made, (2) constrained decisions, (3) reevaluating the decision, and (4) indicators of HD. Contrary to the rational, "information-processor" approach to decision making, some test decisions were immediate and automatic. These stories challenged the conventional construction of a genetic-test decision as an opportunity for choice. Participant narratives suggested that this construction may be inadequate, at least for some people who live with genetic risk. Test decisions were sometimes constrained by perceived responsibility to other family members, notably offspring. For others at risk, the test decision was a dynamic process of critical thought and evaluation. Finally, behaviors that could be symptoms of HD were the catalyst for testing.

  7. Chinese patients with Huntington's disease initially presenting with spinocerebellar ataxia.

    Science.gov (United States)

    Dong, Y; Sun, Y-M; Liu, Z-J; Ni, W; Shi, S-S; Wu, Z-Y

    2013-04-01

    Recent studies have described Huntington's disease (HD) patients with atypical onset of ataxia. Symptoms in these patients can overlap with those of spinocerebellar ataxia (SCA). We retrospectively examined clinical data for 82 HD probands and found 7 had initially been clinically diagnosed as SCA cases. Clinical features in these patients were further investigated and the number of CAG repeats in the huntingtin (HTT) gene was determined by direct sequencing. Genetic screenings for SCAs in the 7 patients were all negative. By contrast, HTT was heterozygous in each patient. The distribution of CAG number in the 7 patients was statistically the same as that in the other 75 patients. Each of 7 HD patients had presented with atypical onset of ataxia. The mean time from onset to HTT genetic testing was 5.6 ± 5.52 years. Three of the patients developed chorea, but the others did not. Our observations confirm the clinical heterogeneity of HD in Han Chinese. Based on these findings, testing for HTT expansions should be considered for clinically diagnosed SCA patients who test negatively in genetic screening of SCA genes.

  8. 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.

  9. Impaired PGC-1alpha function in muscle in Huntington's disease.

    Science.gov (United States)

    Chaturvedi, Rajnish K; Adhihetty, Peter; Shukla, Shubha; Hennessy, Thomas; Calingasan, Noel; Yang, Lichuan; Starkov, Anatoly; Kiaei, Mahmoud; Cannella, Milena; Sassone, Jenny; Ciammola, Andrea; Squitieri, Fernando; Beal, M Flint

    2009-08-15

    We investigated the role of PPAR gamma coactivator 1alpha (PGC-1alpha) in muscle dysfunction in Huntington's disease (HD). We observed reduced PGC-1alpha and target genes expression in muscle of HD transgenic mice. We produced chronic energy deprivation in HD mice by administering the catabolic stressor beta-guanidinopropionic acid (GPA), a creatine analogue that reduces ATP levels, activates AMP-activated protein kinase (AMPK), which in turn activates PGC-1alpha. Treatment with GPA resulted in increased expression of AMPK, PGC-1alpha target genes, genes for oxidative phosphorylation, electron transport chain and mitochondrial biogenesis, increased oxidative muscle fibers, numbers of mitochondria and motor performance in wild-type, but not in HD mice. In muscle biopsies from HD patients, there was decreased PGC-1alpha, PGC-1beta and oxidative fibers. Oxygen consumption, PGC-1alpha, NRF1 and response to GPA were significantly reduced in myoblasts from HD patients. Knockdown of mutant huntingtin resulted in increased PGC-1alpha expression in HD myoblast. Lastly, adenoviral-mediated delivery of PGC-1alpha resulted increased expression of PGC-1alpha and markers for oxidative muscle fibers and reversal of blunted response for GPA in HD mice. These findings show that impaired function of PGC-1alpha plays a critical role in muscle dysfunction in HD, and that treatment with agents to enhance PGC-1alpha function could exert therapeutic benefits. Furthermore, muscle may provide a readily accessible tissue in which to monitor therapeutic interventions.

  10. Transcriptional dysregulation in Huntington's disease: The role of histone deacetylases.

    Science.gov (United States)

    Sharma, Sorabh; Taliyan, Rajeev

    2015-10-01

    Huntington's disease (HD) is a progressive neurological disorder for which there are no disease-modifying treatments. Although, the exact underlying mechanism(s) leading to the neural cell death in HD still remains elusive, the transcriptional dysregulation is a major molecular feature. Recently, the transcriptional activation and repression regulated by chromatin acetylation has been found to be impaired in HD pathology. The acetylation and deacetylation of histone proteins is carried out by opposing actions of histone acetyl-transferases and histone deacetylases (HDACs), respectively. Studies carried out in cell culture, yeast, Drosophila and rodent model(s) have indicated that HDAC inhibitors (HDACIs) might provide useful class of therapeutic agents for HD. Clinical trials have also reported the beneficial effects of HDACIs in patients suffering from HD. Therefore, the development of HDACIs as therapeutics for HD has been vigorously pursued. In this review, we highlight and summarize the putative role of HDACs in HD like pathology and further discuss the potential of HDACIs as new therapeutic avenues for the treatment of HD. Copyright © 2015 Elsevier Ltd. All rights reserved.

  11. Synaptopathic mechanisms of neurodegeneration and dementia: Insights from Huntington's disease.

    Science.gov (United States)

    Tyebji, Shiraz; Hannan, Anthony J

    2017-06-01

    Dementia encapsulates a set of symptoms that include loss of mental abilities such as memory, problem solving or language, and reduces a person's ability to perform daily activities. Alzheimer's disease is the most common form of dementia, however dementia can also occur in other neurological disorders such as Huntington's disease (HD). Many studies have demonstrated that loss of neuronal cell function manifests pre-symptomatically and thus is a relevant therapeutic target to alleviate symptoms. Synaptopathy, the physiological dysfunction of synapses, is now being approached as the target for many neurological and psychiatric disorders, including HD. HD is an autosomal dominant and progressive degenerative disorder, with clinical manifestations that encompass movement, cognition, mood and behaviour. HD is one of the most common tandem repeat disorders and is caused by a trinucleotide (CAG) repeat expansion, encoding an extended polyglutamine tract in the huntingtin protein. Animal models as well as human studies have provided detailed, although not exhaustive, evidence of synaptic dysfunction in HD. In this review, we discuss the neuropathology of HD and how the changes in synaptic signalling in the diseased brain lead to its symptoms, which include dementia. Here, we review and discuss the mechanisms by which the 'molecular orchestras' and their 'synaptic symphonies' are disrupted in neurodegeneration and dementia, focusing on HD as a model disease. We also explore the therapeutic strategies currently in pre-clinical and clinical testing that are targeted towards improving synaptic function in HD. Copyright © 2017 Elsevier Ltd. All rights reserved.

  12. Microglial Activation in the Pathogenesis of Huntington's Disease.

    Science.gov (United States)

    Yang, Hui-Ming; Yang, Su; Huang, Shan-Shan; Tang, Bei-Sha; Guo, Ji-Feng

    2017-01-01

    Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused by expanded CAG trinucleotide repeats (>36) in exon 1 of HTT gene that encodes huntingtin protein. Although HD is characterized by a predominant loss of neurons in the striatum and cortex, previous studies point to a critical role of aberrant accumulation of mutant huntingtin in microglia that contributes to the progressive neurodegeneration in HD, through both cell-autonomous and non-cell-autonomous mechanisms. Microglia are resident immune cells in the central nervous system (CNS), which function to surveil the microenvironment at a quiescent state. In response to various pro-inflammatory stimuli, microglia become activated and undergo two separate phases (M1 and M2 phenotype), which release pro-inflammatory cytokines (IL-1β, IL-6, and TNF-α), anti-inflammatory cytokines, and growth factors (TGF-β, CD206, and Arg1), respectively. Immunoregulation by microglial activation could be either neurotoxic or neuroprotective. In this review, we summarized current understanding about microglial activation in the pathogenesis and progression of HD, with a primary focus of M1 and M2 phenotype of activated microglia and their corresponding signaling pathways.

  13. Antidepressants for neuroprotection in Huntington's disease: A review.

    Science.gov (United States)

    Jamwal, Sumit; Kumar, Puneet

    2015-12-15

    Huntington Disease (HD), which is characterized by abnormal dance-like movements, is a neurodegenerative disorder caused by a genetic mutation that results in an expanded polyglutamine stretch in the NH2 terminus of huntingtin protein (HTT). The principal neuropathological hallmarks of disease include loss of striatal and cortical projection neurons. HTT is ubiquitously expressed and is implicated in several cellular functions including neurogenesis, cell trafficking and brain-derived neurotrophic factor (BDNF) production. Major depression is the most common symptom among pre-symptomatic HD carriers and numerous pieces of preclinical evidence have suggested the use of antidepressants in HD not only elevates mood but also slows down the disease progression by activating different neuroprotective mechanism like BDNF/TrkB pathway, MAPK/ERK signalling, neurogenesis and Wnt signalling. HTT plays major role in neurogenesis, a physiological phenomenon that is implicated in some of the behavioral effects of antidepressants. Currently, there is no clinically available treatment that can halt or slow down the progression of HD except tetrabenazine (the only FDA approved drug); however, this drug also induces depression and sedation in patients. In this review, a brief discussion has been made about the mutant HTT that induced various cellular and molecular mechanisms underlying behavioral disorders in HD. Further, an attempt has been made to understand the various cellular mechanisms involved in mediating the neuroprotective effects of antidepressants in HD. Copyright © 2015 Elsevier B.V. All rights reserved.

  14. Non-Verbal and Verbal Fluency in Prodromal Huntington's Disease

    Directory of Open Access Journals (Sweden)

    Tarja-Brita Robins Wahlin

    2015-12-01

    Full Text Available Background: This study examines non-verbal (design and verbal (phonemic and semantic fluency in prodromal Huntington's disease (HD. An accumulating body of research indicates subtle deficits in cognitive functioning among prodromal mutation carriers for HD. Methods: Performance was compared between 32 mutation carriers and 38 non-carriers in order to examine the magnitude of impairment across fluency tasks. The predicted years to onset (PYTO in mutation carriers was calculated by a regression equation and used to divide the group according to whether onset was predicted as less than 12.75 years (HD+CLOSE; n = 16 or greater than 12.75 years (HD+DISTANT; n = 16. Results: The results indicate that both non-verbal and verbal fluency is sensitive to subtle impairment in prodromal HD. HD+CLOSE group produced fewer items in all assessed fluency tasks compared to non-carriers. HD+DISTANT produced fewer drawings than non-carriers in the non-verbal task. PYTO correlated significantly with all measures of non-verbal and verbal fluency. Conclusion: The pattern of results indicates that subtle cognitive deficits exist in prodromal HD, and that less structured tasks with high executive demands are the most sensitive in detecting divergence from the normal range of functioning. These selective impairments can be attributed to the early involvement of frontostriatal circuitry and frontal lobes.

  15. Huntington disease: natural history, biomarkers and prospects for therapeutics.

    Science.gov (United States)

    Ross, Christopher A; Aylward, Elizabeth H; Wild, Edward J; Langbehn, Douglas R; Long, Jeffrey D; Warner, John H; Scahill, Rachael I; Leavitt, Blair R; Stout, Julie C; Paulsen, Jane S; Reilmann, Ralf; Unschuld, Paul G; Wexler, Alice; Margolis, Russell L; Tabrizi, Sarah J

    2014-04-01

    Huntington disease (HD) can be seen as a model neurodegenerative disorder, in that it is caused by a single genetic mutation and is amenable to predictive genetic testing, with estimation of years to predicted onset, enabling the entire range of disease natural history to be studied. Structural neuroimaging biomarkers show that progressive regional brain atrophy begins many years before the emergence of diagnosable signs and symptoms of HD, and continues steadily during the symptomatic or 'manifest' period. The continued development of functional, neurochemical and other biomarkers raises hopes that these biomarkers might be useful for future trials of disease-modifying therapeutics to delay the onset and slow the progression of HD. Such advances could herald a new era of personalized preventive therapeutics. We describe the natural history of HD, including the timing of emergence of motor, cognitive and emotional impairments, and the techniques that are used to assess these features. Building on this information, we review recent progress in the development of biomarkers for HD, and potential future roles of these biomarkers in clinical trials.

  16. Activating transcription factor 6 derepression mediates neuroprotection in Huntington disease.

    Science.gov (United States)

    Naranjo, José R; Zhang, Hongyu; Villar, Diego; González, Paz; Dopazo, Xose M; Morón-Oset, Javier; Higueras, Elena; Oliveros, Juan C; Arrabal, María D; Prieto, Angela; Cercós, Pilar; González, Teresa; De la Cruz, Alicia; Casado-Vela, Juan; Rábano, Alberto; Valenzuela, Carmen; Gutierrez-Rodriguez, Marta; Li, Jia-Yi; Mellström, Britt

    2016-02-01

    Deregulated protein and Ca2+ homeostasis underlie synaptic dysfunction and neurodegeneration in Huntington disease (HD); however, the factors that disrupt homeostasis are not fully understood. Here, we determined that expression of downstream regulatory element antagonist modulator (DREAM), a multifunctional Ca2+-binding protein, is reduced in murine in vivo and in vitro HD models and in HD patients. DREAM downregulation was observed early after birth and was associated with endogenous neuroprotection. In the R6/2 mouse HD model, induced DREAM haplodeficiency or blockade of DREAM activity by chronic administration of the drug repaglinide delayed onset of motor dysfunction, reduced striatal atrophy, and prolonged life span. DREAM-related neuroprotection was linked to an interaction between DREAM and the unfolded protein response (UPR) sensor activating transcription factor 6 (ATF6). Repaglinide blocked this interaction and enhanced ATF6 processing and nuclear accumulation of transcriptionally active ATF6, improving prosurvival UPR function in striatal neurons. Together, our results identify a role for DREAM silencing in the activation of ATF6 signaling, which promotes early neuroprotection in HD.

  17. Wigner and Huntington: the long quest for metallic hydrogen

    Science.gov (United States)

    Nellis, W. J.

    2013-06-01

    In 1935, Wigner and Huntington (WH) predicted that at a density D Met=0.62 mole H/cm3, 'very low temperatures', and a pressure greater than 25 GPa, body-centered cubic H2 would undergo an isostructural phase transition directly to H with an associated insulator-metal transition (IMT). WH also predicted an H2 structure type that might occur if the simple H2/H dissociative IMT does not exist: 'It is possible … that a layer-like lattice … is obtainable under high pressure'. In 1991, Ashcroft predicted that the 'geometric and dynamic nature of the (H-H) pairing', possibly in a layered graphite-like structure, would substantially impede achieving metallic H2. In 1996, metallic fluid H was made under dynamic compression at 0.64 mole H/cm3, 140 GPa and T/T F≪1, where T F is Fermi temperature. In 2012, a layer-like lattice, called Phase IV, was discovered above ∼220 GPa static pressure. Phase IV is insulating and possibly semi-metallic up to ∼360 GPa, above which it has been predicted to become metallic. This paper is a historical perspective - a comparison of WH's predictions with recent dynamic, static and theoretical high pressure results. WH did extremely well.

  18. 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 <7), often limited by a lack of clinical research to support good practice, includes the following: (1) provide comprehensive health records to an interdisciplinary care staff before admission to a more intense care setting (home health services, day program, assisted living, group home, long-term skilled nursing facility, palliative care); (2) consult with and refer to rehabilitation (occupational therapy, physical therapy, 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.

  19. 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.

  20. Founder mutation for Huntington disease in Caucasus Jews.

    Science.gov (United States)

    Melamed, O; Behar, D M; Bram, C; Magal, N; Pras, E; Reznik-Wolf, H; Borochowitz, Z U; Davidov, B; Mor-Cohen, R; Baris, H N

    2015-02-01

    Huntington disease (HD), an autosomal dominant disorder involving HTT, is characterized by chorea, psychiatric illness and cognitive decline. Diagnosis and age of onset depend on the degree of expansion of the trinucleotide CAG repeat within the gene. The prevalence of HD is known for Europeans but has not been studied in the Israeli population. Between 2006 and 2011 we diagnosed in our adult genetics clinic ten HD probands, nine of whom were Caucasus Jews (CJ) (Azerbaijani), and one Ashkenazi Jewish. We performed haplotype analysis to look for evidence of a founder mutation, and found that of the nine CJ, eight shared the same haplotype that was compatible with the A1 haplogroup. We calculated the coalescence age of the mutation to be between 80 and 150 years. Ninety percent of our HD patients are CJ, as are 27% of the HD patients in Israel, although the CJ comprise only 1.4% of the Israeli population. Our findings suggest a higher prevalence of HD among CJ compared to the general Israeli population and are consistent with a recent founder mutation. We recommend a higher degree of suspicion for HD in CJ with subtle clinical findings. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  1. Metabolic disruption identified in the Huntington's disease transgenic sheep model.

    Science.gov (United States)

    Handley, Renee R; Reid, Suzanne J; Patassini, Stefano; Rudiger, Skye R; Obolonkin, Vladimir; McLaughlan, Clive J; Jacobsen, Jessie C; Gusella, James F; MacDonald, Marcy E; Waldvogel, Henry J; Bawden, C Simon; Faull, Richard L M; Snell, Russell G

    2016-02-11

    Huntington's disease (HD) is a dominantly inherited, progressive neurodegenerative disorder caused by a CAG repeat expansion within exon 1 of HTT, encoding huntingtin. There are no therapies that can delay the progression of this devastating disease. One feature of HD that may play a critical role in its pathogenesis is metabolic disruption. Consequently, we undertook a comparative study of metabolites in our transgenic sheep model of HD (OVT73). This model does not display overt symptoms of HD but has circadian rhythm alterations and molecular changes characteristic of the early phase disease. Quantitative metabolite profiles were generated from the motor cortex, hippocampus, cerebellum and liver tissue of 5 year old transgenic sheep and matched controls by gas chromatography-mass spectrometry. Differentially abundant metabolites were evident in the cerebellum and liver. There was striking tissue-specificity, with predominantly amino acids affected in the transgenic cerebellum and fatty acids in the transgenic liver, which together may indicate a hyper-metabolic state. Furthermore, there were more strong pair-wise correlations of metabolite abundance in transgenic than in wild-type cerebellum and liver, suggesting altered metabolic constraints. Together these differences indicate a metabolic disruption in the sheep model of HD and could provide insight into the presymptomatic human disease.

  2. Cognitive and Brain Reserve in Prodromal Huntington Disease

    Science.gov (United States)

    Bonner-Jackson, Aaron; Long, Jeffrey D.; Westervelt, Holly; Tremont, Geoffrey; Aylward, Elizabeth; Paulsen, Jane S.

    2013-01-01

    Background Huntington disease (HD) is associated with decline in cognition and progressive morphological changes in brain structures. Cognitive reserve may represent a mechanism by which disease-related decline may be delayed or slowed. The current study examined the relationship between cognitive reserve and longitudinal change in cognitive functioning and brain volumes among prodromal (gene expansion-positive) HD individuals. Methods Participants were genetically-confirmed individuals with prodromal HD enrolled in the PREDICT-HD study. Cognitive reserve was computed as the composite of performance on a lexical task estimating premorbid intellectual level, occupational status, and years of education. Linear mixed effects regression (LMER) was used to examine longitudinal changes on 4 cognitive measures and 3 brain volumes over approximately 6 years. Results Higher cognitive reserve was significantly associated with a slower rate of change on one cognitive measure (Trail Making Test, Part B) and slower rate of volume loss in two brain structures (caudate, putamen) for those estimated to be closest to motor disease onset. This relationship was not observed among those estimated to be further from motor disease onset. Conclusions Our findings demonstrate a relationship between cognitive reserve and both a measure of executive functioning and integrity of certain brain structures in prodromal HD individuals. PMID:23702309

  3. Rate of change in early Huntington's disease: a clinicometric analysis.

    Science.gov (United States)

    Meyer, Christina; Landwehrmeyer, Bernhard; Schwenke, Carsten; Doble, Adam; Orth, Michael; Ludolph, Albert C

    2012-01-01

    Sensitive outcome measures for patients with Huntington's disease (HD) are required for future clinical trials. Longitudinal data were collected from a 3-year study of 379 patients suffering from early HD who were not treated by antipsychotics. Progression of UHDRS item scores was evaluated by linear regression and slope, whereas correlation coefficient, standard error, and P values were estimated on the basis of the data of eight evaluations from screening to study end (36 months). For the functional assessment dimension, the proportion of "no" responses at baseline and at study end was determined. Linear progression was observed for the motor score and for all three functional measures (i.e., functional assessment score, independence assessment score, and total functional capacity score). In contrast, there was little evidence for progression of the behavioral assessment score over the study period, whereas the cognitive assessment score was intermediate. Twenty-two motor-score items showed linear progression, with a slope of >0.003. These included all chorea items, finger tapping and pronation/supination (left and right), gait, tongue protrusion, and tandem walking. Different symptom domains and individual items evolved at different rates in this group of patients suffering from early HD. It may be possible to select sensitive items to create a simplified version of the UHDRS, which would be more efficient and more sensitive for the assessment of disease progression in clinical trials and natural history studies.

  4. Did the “Woman in the Attic” in Jane Eyre Have Huntington Disease?

    Science.gov (United States)

    Coon, Elizabeth A.; Hassan, Anhar

    2015-01-01

    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. PMID:26273542

  5. Results on single cell PCR for Huntington's gene and WAVE product analysis for preimplantation genetic diagnosis.

    Science.gov (United States)

    Drury, K C; Liu, M C; Lilleberg, S; Kipersztok, S; Williams, R S

    2001-10-22

    Triple repeat base pair amplification is the basis for a number of prevalent genetic diseases such as Huntington's, Fragile X, Myotonic Dystrophy and others. We have chosen to investigate the use of PCR to amplify a portion of the Huntington's gene in single cells in order to develop a clinical test system for preimplantation genetic diagnosis (PGD). Amplification of CAG triple repeat sequences poses difficulties due to resistance of GC melting for amplification. Special PCR modifications are necessary to carry out the amplification of GC rich areas found in most triple base pair expansions. We have used a modified polymerase chain reaction (PCR) protocol to amplify the expanded repeat sequence of the Huntington's gene with satisfactory efficiency. Detection of the amplified expanded CAG repeats is shown to be possible using both agarose gel electrophoresis and high definition denaturing high pressure liquid (DHPLC) chromatography. The incidence of allele dropout (ADO) is documented.

  6. Operant-based instrumental learning for analysis of genetically modified models of Huntington's disease.

    Science.gov (United States)

    Trueman, R C; Dunnett, S B; Brooks, S P

    2012-06-01

    Huntington's disease is the result of an expanded CAG repeat in the gene that codes for the protein huntingtin and results in a progressive sequelae of motor, cognitive and psychiatric symptoms. The development of genetically modified rodent models of Huntington's disease has led to the need for sensitive behavioural phenotyping. Operant tests for rodents have been developed that can determine the functional deficits in these genetically modified models, from motor, cognitive and emotional domains. The current review discusses tests that employ operant equipment, an automated and highly flexible method for testing rodents. Different operant paradigms are examined in relation to their relevance to Huntington's disease symptomology, as well as summarising research to date on genetic models with these tests.

  7. Acetylcholinesterase inhibitors in cognitive impairment in Huntington's disease: A brief review.

    Science.gov (United States)

    Vattakatuchery, Joe John; Kurien, Renjith

    2013-09-22

    Huntington's disease (HD) is a neurodegenerative disease associated with cognitive deficits. Cognitive dysfunction may be present in the early stages of the disease, even before the onset of motor symptoms. The cognitive dysfunction includes executive dysfunction, psychomotor symptoms, visuospatial deficits, perceptual deficits, memory loss and difficulty learning new skills. Acetylcholinesterase inhibitors have shown good effect in the treatment of other types of dementia and it is postulated that it might delay cognitive decline in HD. We reviewed the evidence for Acetylcholinesterase inhibitors in the treatment of cognitive decline and dementia associated with Huntington's disease. We identified 6 articles that investigated the role of Acetylcholinesterase inhibitors for treatment of cognitive deficits in Huntington's disease. Following the review, the authors concluded that there is limited evidence for the use of Acetylcholinesterase inhibitors for cognitive impairment in HD.

  8. An update on Huntington's disease: from the gene to the clinic.

    Science.gov (United States)

    Kim, Samuel D; Fung, Victor S C

    2014-08-01

    This review highlights the recent advances in Huntington's disease, with a particular focus on development of disease biomarkers for use in therapeutic trials in the premotor phase of the disease, as well as the growing literature regarding pathophysiological mechanisms and their relevance to potential therapeutic targets. There have been continued advances in the development of disease biomarkers, and promising neuroprotection trials are beginning to emerge in the premotor stage of Huntington's disease. Deeper understanding of the pathophysiological mechanisms is being translated into potential therapeutic strategies. The premotor stage of Huntington's disease provides an ideal time to trial disease-modifying therapy, but reliable biomarkers are required for monitoring disease progression, and this remains an area of intense research. Our understanding of the underlying pathophysiological mechanisms continues to expand, and a number of promising therapeutic strategies are emerging, including strategies to silence mutant huntingtin expression.

  9. [Fatty acid patterns and glucose tolerance in Huntington's chorea (author's transl)].

    Science.gov (United States)

    Schubotz, R; Hausmann, L; Kaffarnik, H; Zehner, J; Oepen, H

    1976-07-02

    Fatty acid patterns of plasma lipids and glucose-tolerance in Huntington's chorea. 25 patients with Huntington's chorea of various manifestation (9 predisposed symptomefree, 5 with light and 11 with severe manifestation) had studies of carbohydrate and lipid metabolism. These studies measured glucose-tolerance tests, insulin-, HGH-secretion, serum lipids and plasma fatty acid conposition of the cholesterylesters, triglycerides and phospholipids. The reactive insulin- but not HGH-levels were significantly raised, 32 % of the patients with Huntington's chorea had abnormal glucose-tolerance tests, compared with 3.2 % in a control group. Duration of symptoms correlated with higher cholesterol levels. Minor deviations were found in the fatty acid patterns in various lipid clases.

  10. Geological Mapping of the Ac-H-14 Yalode Quadrangle of Ceres from NASA's Dawn Mission

    Science.gov (United States)

    Crown, David; Yingst, Aileen; Mest, Scott; Platz, Thomas; Sizemore, Hanna; Berman, Daniel; Williams, David; Roatsch, Thomas; Preusker, Frank; Nathues, Andreas; Hoffman, Martin; Schäfer, Michael; Raymond, Carol; Russell, Christopher

    2016-04-01

    The Dawn Science Team is conducting a geologic mapping campaign for Ceres that includes production of a Survey- and High Altitude Mapping Orbit (HAMO)-based global map and a series of 15 Low Altitude Mapping Orbit (LAMO)-based quadrangle maps. In this abstract we discuss the surface geology and geologic evolution of the Ac-H-14 Yalode Quadrangle (21-66°S, 270-360°E). The current geologic map was produced using ArcGIS software based on HAMO images (140 m/pixel) for surface morphology and stratigraphic relationships, Survey (400 m/pixel) digital terrain models for topographic information, and Dawn Framing Camera (FC) color images as context for map unit identification. The map will be updated through analysis of LAMO images (35 m/pixel) that are just becoming available. The Yalode Quadrangle is dominated by the 260-km diameter impact basin Yalode (42.3°S, 293.6°E) and includes rugged and smooth terrains to the east. Preliminary geologic mapping defined two regional units (cratered terrain and smooth material), which dominate the quadrangle, as well as a series of impact crater material units. Mapped geologic features include crater rims, graben, ridges, troughs, scarp, lineaments, and impact crater chains. Geologic contacts are typically not distinct in Survey and HAMO images. Impact craters in Yalode Quadrangle display a range of preservation states. Degraded features, including Yalode basin and numerous smaller craters, exhibit subdued rims, lack discrete ejecta deposits, and have infilled interiors. More pristine features (including Mondamin, Besua, Lono and craters on the Yalode basin floor) have well-defined, quasi-circular forms with prominent rims and in some cases discernible ejecta. Some of these craters have bowl-shaped interiors, and others contain hills or mounds on their floors that are interpreted as central peaks. Yalode basin has a variably preserved rim, which is continuous and sharply defined to the north/northwest and is irregular or degraded

  11. Geological Mapping of the Ac-H-5 Fejokoo Quadrangle of Ceres from NASA's Dawn Mission

    Science.gov (United States)

    Hughson, Kynan; Russell, Christopher; Williams, David; Buczkowski, Debra; Mest, Scott; Scully, Jennifer; Kneissl, Thomas; Ruesch, Ottaviano; Frigeri, Alessandro; Combe, Jean-Philippe; Jaumann, Ralf; Roatsch, Thomas; Preusker, Frank; Platz, Thomas; Nathues, Andreas; Hoffmann, Martin; Schaefer, Michael; Park, Ryan; Marchi, Simone; Raymond, Carol

    2016-04-01

    NASA's Dawn spacecraft arrived at Ceres on March 6, 2015, and has been studying the dwarf planet through a series of successively lower orbits, obtaining morphological & topographical image, mineralogical, elemental abundance, and gravity data. Ceres is the largest object in the asteroid belt with a mean diameter of ~950 km. The Dawn Science Team is conducting a geologic mapping campaign for Ceres similar to that done for the asteroid Vesta [1, 2], including production of a Survey- and High Altitude Mapping Orbit (HAMO)-based global map, and a series of 15 Low Altitude Mapping Orbit (LAMO)-based quadrangle maps. In this abstract we present the LAMO-based geologic map of the Ac-H-5 Fejokoo quadrangle (21-66 °N and 270-360 °E) and discuss its geologic evolution. At the time of this writing LAMO images (35 m/pixel) are just becoming available. Thus, our geologic maps are based on HAMO images (~140 m/pixel) and Survey (~400 m/pixel) digital terrain models (for topographic information) [3, 4]. Dawn Framing Camera (FC) color images are also used to provide context for map unit identification. The maps to be presented as posters will be updated from analyses of LAMO images (~35 m/pixel). The Fejokoo quadrangle hosts six primary geologic features: (1) the centrally located, ~80 km diameter, distinctly hexagonal impact crater Fejokoo; (2) Victa crater with its large exterior dark lobate flow feature, and interior lobate and furrowed deposits; (3) Abellio crater, which exhibits a well formed ejecta blanket and has an arcuately textured infilled floor whose morphology is similar to those of homologously sized craters on some of the icy Saturnian satellites [5]; (4) Cozobi crater, whose floor is filled with an unusually bulbous and smooth deposit, thin sheeted multi-lobed flow-like features that are reminiscent of fluidized ejecta as seen on Mars are also observed to be emanating outwards from the N and S rims of this crater [6]; (5) the peculiar Oxo crater on the eastern

  12. Widespread heterogeneous neuronal loss across the cerebral cortex in Huntington's disease.

    Science.gov (United States)

    Nana, Alissa L; Kim, Eric H; Thu, Doris C V; Oorschot, Dorothy E; Tippett, Lynette J; Hogg, Virginia M; Synek, Beth J; Roxburgh, Richard; Waldvogel, Henry J; Faull, Richard L M

    2014-01-01

    Huntington's disease is an autosomal dominant neurodegenerative disease characterized by neuronal degeneration in the basal ganglia and cerebral cortex, and a variable symptom profile. Although progressive striatal degeneration is known to occur and is related to symptom profile, little is known about the cellular basis of symptom heterogeneity across the entire cerebral cortex. To investigate this, we have undertaken a double blind study using unbiased stereological cell counting techniques to determine the pattern of cell loss in six representative cortical regions from the frontal, parietal, temporal, and occipital lobes in the brains of 14 Huntington's disease cases and 15 controls. The results clearly demonstrate a widespread loss of total neurons and pyramidal cells across all cortical regions studied, except for the primary visual cortex. Importantly, the results show that cell loss is remarkably variable both within and between Huntington's disease cases. The results also show that neuronal loss in the primary sensory and secondary visual cortices relate to Huntington's disease motor symptom profiles, and neuronal loss across the associational cortices in the frontal, parietal and temporal lobes is related to both Huntington's disease motor and to mood symptom profiles. This finding considerably extends a previous study (Thu et al., Brain, 2010; 133:1094-1110) which showed that neuronal loss in the primary motor cortex was related specifically to the motor symptom profiles while neuronal loss in the anterior cingulate cortex was related specifically to mood symptom profiles. The extent of cortical cell loss in the current study was generally related to the striatal neuropathological grade, but not to CAG repeat length on the HTT gene. Overall our findings show that Huntington's disease is characterized by a heterogeneous pattern of neuronal cell loss across the entire cerebrum which varies with symptom profile.

  13. 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

    2016-10-12

    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

  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. Bathymetry of Lake Erie and Lake Saint Clair

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Bathymetry of Lake Erie and Lake Saint Clair has been compiled as a component of a NOAA project to rescue Great Lakes lake floor geological and geophysical data and...

  16. NMDA receptor gene variations as modifiers in Huntington disease: a replication study

    OpenAIRE

    2011-01-01

    Several candidate modifier genes which, in addition to the pathogenic CAG repeat expansion, influence the age at onset (AO) in Huntington disease (HD) have already been described. The aim of this study was to replicate association of variations in the N-methyl D-aspartate receptor subtype genes GRIN2A and GRIN2B in the “REGISTRY” cohort from the European Huntington Disease Network (EHDN). The analyses did replicate the association reported between the GRIN2A rs2650427 variation and AO in the ...

  17. Guidelines for presymptomatic testing for Huntington's disease: past, present and future in France.

    Science.gov (United States)

    Clément, S; Gargiulo, M; Feingold, J; Durr, A

    2015-01-01

    Huntington's disease was the first adult onset neurological disease for which presymptomatic genetic testing became possible. It served as a model for the approach which constituted a radical change in medical practice and provided an important framework for multi-step, multidisciplinary, counselling for at risk persons. We will review the historical context of guidelines and good clinical practices, the experiences of our team which covers more than 20 years of presymptomatic testing for Huntington's disease in France, and explore the impact of the new French legislation for the future of presymptomatic testing of diseases for which neither preventive measures nor curative treatments are yet available.

  18. 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...

  19. 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.

  20. A double blind trial of sulpiride in Huntington's disease and tardive dyskinesia.

    Science.gov (United States)

    Quinn, N; Marsden, C D

    1984-08-01

    Eleven patients with Huntington's disease and nine patients with tardive dyskinesia participated in a randomised double-blind crossover trial of sulpiride (as sole antidopaminergic therapy) versus placebo. Although functional improvement was not seen in Huntington's disease patients, sulpiride reduced movement count and total dyskinesia score in both conditions. Sulpiride differs pharmacologically in several respects from conventional neuroleptics, and has not been convincingly shown to cause tardive dyskinesia. Among currently available treatments, it may therefore be considered a drug of choice for treatment of tardive dyskinesia.