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Information on many genetic disorders, and the frequent new findings on them, has been extremely difficult to come by—until now. The “Gale Encyclopedia of Genetic Disorders” addresses the need for current, hard-to-find facts on emerging discoveries. The two-volume Encyclopedia, presented in a single alphabetical sequence, provides clear, complete information on genetic disorders, including conditions, tests, procedures, treatments and therapies, in articles that are both comprehensive and easy to understand, in language accessible to laypersons. The articles are arranged in a standardized format for quick comparison and ease of use, while non-disorder topics are covered in detail with extended entries. Students will want to consult the “Gale Encyclopedia of Genetic Disorders” for useful information on a range of well known disorders, including Down Syndrome, Trisomy, Hemophilia and Tourette Syndrome, and rarely seen diseases such as Meckel Syndrome, Neuraminidase Deficiency and Phenylketonuria.

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This digital document is a journal article from Brain and Cognition, published by Elsevier in 2005. The article is delivered in HTML format and is available in your Amazon.com Media Library immediately after purchase. You can view it with any web browser.

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This study examined the effect of transformed visual feedback on movement control in Huntington's disease (HD). Patients in the early stages of HD and controls performed aiming movements towards peripheral targets on a digitizing tablet and emphasizing precision. In a baseline condition, HD patients were slower but showed few precision problems in aiming. When visual feedback was inverted in both vertical and horizontal axes, patients showed problems in initial and terminal phases of movement where feedback is most critical. When visual feedback was inverted along a single axis as in a mirror-inversion, HD patients showed large deviations and over-corrections before adaptation. Adaptation was similar in both groups. These results suggest that HD impairs on-line error correction in novel movements. ... Read more

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This digital document is an article from Journal of Medical Speech - Language Pathology, published by Thomson Gale on June 1, 2005. The length of the article is 6763 words. The page length shown above is based on a typical 300-word page. The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase. You can view it with any web browser.

Citation Details
Title: Speech intelligibility in ALS and HD dysarthria: the everyday listener's perspective.(amyotrophic lateral sclerosis)(Huntington disease)
Author: Estelle R. Klasner
Publication: Journal of Medical Speech - Language Pathology (Magazine/Journal)
Date: June 1, 2005
Publisher: Thomson Gale
Volume: 13Issue: 2Page: 127(13)

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This digital document is an article from Gale Encyclopedia of Medicine, 3rd ed., brought to you by Gale®, a part of Cengage Learning, a world leader in e-research and educational publishing for libraries, schools and businesses.The length of the article is 1820 words.The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase.You can view it with any web browser.The third edition of this authoritative, comprehensive, in-depth medical guide features information on medical topics in language accessible to adult laypersons. Disease/disorder articles typically cover definition; description; causes and symptoms; diagnosis; treatments; prevention; and more. Test/treatment articles typically cover definition; purposes; precautions; preparation; risks; normal and abnormal results; and much more. ... Read more

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This volume is produced from digital images created through the University of Michigan University Library's large-scale digitization efforts. The Library seeks to preserve the intellectual content of items in a manner that facilitates and promotes a variety of uses. The digital reformatting process results in an electronic version of the original text that can be both accessed online and used to create new print copies. The Library also understands and values the usefulness of print and makes reprints available to the public whenever possible. This book and hundreds of thousands of others can be found in the HathiTrust, an archive of the digitized collections of many great research libraries. For access to the University of Michigan Library's digital collections, please see http://www.lib.umich.edu and for information about the HathiTrust, please visit http://www.hathitrust.org ... Read more

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Lesch?Nyhan syndrome, also known as Nyhan?s syndrome, Kelley-Seegmiller syndrome and Juvenile gout:546, is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT), produced by mutations in the HPRT gene. The lack of HGPRT causes a build-up of uric acid in all body fluids: both hyperuricemia and hyperuricosuria, which lead to problems such as severe gout and kidney problems, poor muscle control, and moderate mental retardation. These complications usually appear in the first year of life. A striking feature of LNS is self-mutilating behaviors, characterized by lip and finger biting, that begin in the second year of life. Neurological symptoms include facial grimacing, involuntary writhing, and repetitive movements of the arms and legs similar to those seen in Huntington's disease. The direct cause of the neurological abnormalities remains unknown. Because a lack of HGPRT causes the body to poorly utilize vitamin B12, some boys may develop megaloblastic anemia. ... Read more

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This digital document is a journal article from Brain and Cognition, published by Elsevier in 2005. The article is delivered in HTML format and is available in your Amazon.com Media Library immediately after purchase. You can view it with any web browser.

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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. Patients with Huntington's disease performed the solvable problems significantly worse than the normal control subjects, but there was no difference in performance between the two groups in inhibiting aberrant problems. These results suggest that early Huntington's disease patients exhibit a precocious impairment in their ability to plan the resolution of complex arithmetic word problems without deficit in their ability to eliminate aberrant problems. This dissociation of performance fits with what we have found in such patients using script-sequencing tasks (Allain et al., 2004) and with neuropsychological data obtained by Waltkins et al. (2000). These results are consistent with what is known about the neuropathological progression of Huntington's disease in which neuronal loss progresses in a dorso-to-ventral direction and with what was shown in patients with circumscribed frontal lobe damage. In these patients, impairments in planning solvable word problems were more frequent when lesions were in the lateral prefrontal regions. ... Read more

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This digital document is an article from Psychopharmacology Educational Updates (PsychEd Up), published by NEI Press, Inc. on May 1, 2009. The length of the article is 1591 words. The page length shown above is based on a typical 300-word page. The article is delivered in HTML format and is available immediately after purchase. You can view it with any web browser.

From the author: Psychiatric disorders associated with HD are extremely important to address; successful treatment can lead to improvements in function and daily lives of patients. Some pharmacological and behavior therapies have shown clinical efficacy in small trials of patients with HD. Current measurements of disease progression in HD may not adequately quantify cognitive and psychiatric disorders, and it may be important to address this for future clinical trials of disease modifying agents.

Citation Details
Title: Neuropsychiatry in Huntington's disease.(Second Messenger)(Report)
Author: Miriam A. Hickey
Publication: Psychopharmacology Educational Updates (PsychEd Up) (Magazine/Journal)
Date: May 1, 2009
Publisher: NEI Press, Inc.
Volume: 5Issue: 5Page: NA

Article Type: Report

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This digital document is an article from Journal of Medical Speech - Language Pathology, published by Delmar Learning on March 1, 2003. The length of the article is 7070 words. The page length shown above is based on a typical 300-word page. The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase. You can view it with any web browser.

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Title: Speech disorders in mild and moderate Huntington disease: results of dysarthria assessments of 19 individuals.
Author: Lena Hartelius
Publication: Journal of Medical Speech - Language Pathology (Refereed)
Date: March 1, 2003
Publisher: Delmar Learning
Volume: 11Issue: 1Page: 1(14)

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This digital document is a journal article from Neuropsychologia, published by Elsevier in 2007. The article is delivered in HTML format and is available in your Amazon.com Media Library immediately after purchase. You can view it with any web browser.

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Cognitive deficits in Huntington's disease (HD) have been attributed to neuronal degeneration within the striatum; however, postmortem and structural imaging studies have revealed more widespread morphological changes. To examine the impact of HD-related changes in regions outside the striatum, we used functional magnetic resonance imaging (fMRI) in HD to examine brain activation patterns using a Simon task that required a button press response to either congruent or incongruent arrow stimuli. Twenty mild to moderate stage HD patients and 17 healthy controls were scanned using a 3T GE scanner. Data analysis involved the use of statistical parametric mapping software with a random effects analysis model to investigate group differences brain activation patterns compared to baseline. HD patients recruited frontal and parietal cortical regions to perform the task, and also showed significantly greater activation, compared to controls, in the caudal anterior cingulate, insula, inferior parietal lobules, superior temporal gyrus bilaterally, right inferior frontal gyrus, right precuneus/superior parietal lobule, left precentral gyrus, and left dorsal premotor cortex. The significantly increased activation in anterior cingulate-frontal-motor-parietal cortex in HD may represent a primary dysfunction due to direct cell loss or damage in cortical regions, and/or a secondary compensatory mechanism of increased cortical recruitment due to primary striatal deficits. ... Read more

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This digital document is a journal article from Neuropsychologia, published by Elsevier in 2006. The article is delivered in HTML format and is available in your Amazon.com Media Library immediately after purchase. You can view it with any web browser.

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Memory dysfunction is an important feature in the clinical presentation of Huntington's disease (HD) and may precede the onset of motor symptoms. Although several studies have contributed to the quantitative and qualitative description of memory impairments in HD, the characterization of episodic memory impairments has varied considerably. Whereas most studies report significant impairments on free recall tests, performance on recognition tests has been considerably more variable, ranging from normal to markedly deficient. This absence of a well-established recognition memory deficit has led some investigators to attribute the memory deficits in HD to a retrieval-based episodic memory impairment. We felt that a quantitative review of the literature was needed to better characterize these episodic memory impairments. We conducted a meta-analysis to assess the magnitude of the recognition memory deficit in HD and to examine it in relation to the known deficit in recall. Memory data were provided by 544 symptomatic HD patients, 224 presymptomatic gene-carriers, and 963 control subjects. The overall group comparison between symptomatic patients and controls yielded effect sizes of d=1.95 for free recall and d=1.73 for recognition. We split the symptomatic group into two subgroups based on their mental status (mild and moderate/severe dementia) and both showed significant deficits in recall and recognition memory, though recall was more impaired than recognition in the mild dementia subgroup. Only slight memory impairment was observed in the presymptomatic subjects. The results show that deficits in recognition memory must be accounted for in future models of memory impairment in HD. ... Read more

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This volume is produced from digital images created through the University of Michigan University Library's large-scale digitization efforts. The Library seeks to preserve the intellectual content of items in a manner that facilitates and promotes a variety of uses. The digital reformatting process results in an electronic version of the original text that can be both accessed online and used to create new print copies. The Library also understands and values the usefulness of print and makes reprints available to the public whenever possible. This book and hundreds of thousands of others can be found in the HathiTrust, an archive of the digitized collections of many great research libraries. For access to the University of Michigan Library's digital collections, please see http://www.lib.umich.edu and for information about the HathiTrust, please visit http://www.hathitrust.org ... Read more

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This digital document is an article from Journal of Neuroscience Nursing, published by American Association of Neuroscience Nurses on October 1, 1999. The length of the article is 3634 words. The page length shown above is based on a typical 300-word page. The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase. You can view it with any web browser.

Citation Details
Title: Understanding the Neuropsychiatric Symptoms of Huntington's Disease.
Author: Nancy Hofmann
Publication: Journal of Neuroscience Nursing (Refereed)
Date: October 1, 1999
Publisher: American Association of Neuroscience Nurses
Volume: 31Issue: 5Page: 309

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This volume is produced from digital images created through the University of Michigan University Library's large-scale digitization efforts. The Library seeks to preserve the intellectual content of items in a manner that facilitates and promotes a variety of uses. The digital reformatting process results in an electronic version of the original text that can be both accessed online and used to create new print copies. The Library also understands and values the usefulness of print and makes reprints available to the public whenever possible. This book and hundreds of thousands of others can be found in the HathiTrust, an archive of the digitized collections of many great research libraries. For access to the University of Michigan Library's digital collections, please see http://www.lib.umich.edu and for information about the HathiTrust, please visit http://www.hathitrust.org ... Read more

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Chapters: Huntington's Disease, Motor Neurone Disease, Amyotrophic Lateral Sclerosis, Hereditary Spastic Paraplegia, Ataxia Telangiectasia, Spinocerebellar Ataxia, Survival Motor Neuron Spinal Muscular Atrophy, Friedreich's Ataxia, Progressive Bulbar Palsy, Machado-Joseph Disease, Fazio-Londe Disease, Primary Lateral Sclerosis. Source: Wikipedia. Pages: 130. Not illustrated. Free updates online. Purchase includes a free trial membership in the publisher's book club where you can select from more than a million books without charge. Excerpt: Huntington's disease, chorea, or disorder (HD), is a progressive neurodegenerative genetic disorder, which affects muscle coordination and leads to cognitive decline and dementia. It typically becomes noticeable in middle age. HD is the most common genetic cause of abnormal involuntary writhing movements called chorea and is much more common in people of Western European descent than in those from Asia or Africa. The disease is caused by an autosomal dominant mutation on either of an individual's two copies of a gene called Huntingtin, which means any child of an affected parent has a 50% risk of inheriting the disease. In rare situations where both parents have an affected gene, or either parent has two affected copies, this risk is greatly increased. Physical symptoms of Huntington's disease can begin at any age from infancy to old age, but usually begin between 35 and 44 years of age. If symptoms begin before about 20 years of age, they progress faster and vary slightly, and the disease is classified as juvenile, akinetic-rigid or Westphal variant HD. The Huntingtin gene normally provides the genetic information for a protein that is also called "Huntingtin". The mutation of the Huntingtin gene codes for a different form of the protein, whose presence results in gradual damage to specific areas of the brain. The exact way this happens is not fully understood. Genetic testing can be perf...More: http://booksllc.net/?id=47878 ... Read more