CHOREE DE HUNTINGTON PDF

  • June 16, 2019

La maladie de Huntington est une affection dégénérative du cerveau d’origine I -Présentation de la chorée de Huntington et description de ses troubles. La clozapine, antipsychotique atypique, semble efficace sur les symptômes psychotiques liés à la chorée de Huntington. Nous rapportons le cas d’une patiente. PDF | On, R. de Diego Balaguer and others published ASPECTS CLINIQUES ET NEUROPSYCHOLOGIQUES DE LA MALADIE DE HUNTINGTON.

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In addition, novel therapies to improve brain functioning are under development; these seek to produce symptomatic rather than disease-modifying therapies, and include phosphodiesterase inhibitors. Because HD follows an hutington dominant pattern of inheritance, there is a strong motivation for individuals who are at risk of inheriting it to seek a diagnosis.

Archived from the original on 26 February Genetic inherited or new mutation [4]. Top of the page – Article Outline.

CREB-binding protein CBPa transcriptional coregulator, is essential for cell function because as a coactivator at a significant number of promoters, it activates the transcription of genes for survival pathways. Nutrition in Clinical Practice. Retrieved 23 February Participation in rehabilitation programs during early to middle stage huntinyton the disease may be beneficial as it translates into long term maintenance of motor and functional performance.

A longer repeat results in an earlier age of onset and a faster progression of symptoms. Archived from the original on 31 May Retrieved 18 April Psychoactive substances, substance abuse and substance-related disorders.

There was controversy when Charles Davenport proposed in that compulsory sterilization and immigration control be used for people with certain diseases, including HD, as part of the eugenics movement.

The highest concentrations are found in the brain and testeswith moderate amounts in the liverheartand lungs. But if by any chance these children go through life without it, the thread is broken and the grandchildren and great-grandchildren of the original shakers may rest assured that they are free from the disease.

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CCTG Myotonic dystrophy type 2.

Huntington’s disease – Wikipedia

Schizoaffective disorder Schizophreniform disorder Brief reactive psychosis. Some HD research has ethical issues due to its use of animal testing and embryonic stem cells. Bradley’s neurology in clinical practice 6th ed.

Retrieved 15 November The Journal of Clinical Investigation. Trinucleotide CAG repeats over 28 are unstable during replicationand this instability increases with the number of repeats present. If these are abrupt and have random timing and distribution, they suggest a diagnosis of HD. Stem cell therapy is the replacement of damaged neurons by transplantation of stem cells into affected regions of the brain.

You may thus request that your data, should it be inaccurate, incomplete, unclear, outdated, not be used or stored, be corrected, clarified, updated or deleted. HD Society of Canada. Mutant Huntingtin is expressed throughout the body and associated with abnormalities in peripheral tissues that are directly caused by such expression outside the brain.

Food and Drug Administration. Huntington described the exact pattern of inheritance of autosomal dominant disease years before the rediscovery by scientists of Mendelian inheritance.

Among the approaches aimed at improving cell survival in the presence of mutant huntingtin are correction of transcriptional regulation using histone deacetylase inhibitorsmodulating aggregation of huntingtin, improving metabolism and mitochondrial function and restoring function of synapses.

Degenerative SA Friedreich’s ataxia Ataxia-telangiectasia.

Regions of the brain have differing amounts and reliance on these types of neurons, and are affected accordingly. Gene silencing experiments in mouse models have shown that when the expression of mHTT is reduced, symptoms improve. Retrieved 8 September The foundation was involved in the recruitment of over scientists in the Huntington’s Disease Collaborative Research Project who over a year period worked to locate the responsible gene.

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During the rediscovery of Mendelian inheritance at the turn of the 20th century, HD was used tentatively as an example of autosomal dominant inheritance.

American Journal of Medical Genetics. Insomnia Hypersomnia Sleep apnea Obstructive Congenital central hypoventilation syndrome Narcolepsy Cataplexy Kleine—Levin Circadian rhythm sleep disorder Advanced sleep phase disorder Delayed sleep dde disorder Nonhour sleep—wake disorder Jet lag.

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Archived from the original on 3 May Although Huntington’s has been recognized as a disorder since at least the Middle Agesthe cause has been unknown until fairly recently. Archived from the original on 8 March Early symptoms are attributable to functions of the striatum and its cortical connections—namely control over movement, mood and higher cognitive function. Neurology, Psychiatry and Brain Research 8: The huntingtin protein interacts with over other proteins, and appears to have multiple biological functions.

Substrates, Differential Diagnosis, and Management, 3rd Ed. The first likely description of the disease was in by Charles Oscar Waters. Postpartum depression Postpartum psychosis. Compounds that have failed to prevent or slow progression of Huntington’s disease in human trials include remacemidecoenzyme Q10riluzolecreatineminocyclineethyl-EPAphenylbutyrate and dimebon. There are multiple cellular changes through which the toxic function of mHTT may manifest and produce the HD pathology.

The issues for genetic testing include defining how mature an individual should be before being considered eligible for testing, ensuring the confidentiality of results, and whether companies should be allowed to use test results for decisions on employment, life insurance or other financial matters.