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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Examining the combined medical history of several vhoree of a family exhibiting similar symptoms, he realized their conditions must be linked; he presented his detailed and accurate definition of the disease as his first paper.
Neurology, Psychiatry and Brain Research 8: Archived from the original on 19 November Huntington’s disease HDalso known as Huntington’s choreais an inherited disorder that results in death of brain cells.
CREB-binding protein CBPa transcriptional coregulator, is essential for cell function because as a cohree at a significant number of promoters, it activates the transcription of genes for survival pathways. Some HD research has ethical issues due to its use of animal testing and embryonic stem cells.
Encephalomyelitis Acute disseminated Myalgic Meningoencephalitis.
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In non-disclosure d, only disease-free embryos are replaced in the uterus while the parental genotype and hence parental risk for HD are never disclosed. Archived from the original on 22 October Huntington’s and the Making of a Genetic Disease.
These abnormalities include muscle atrophycardiac failure chkree, impaired glucose toleranceweight lossosteoporosisand testicular atrophy. Huntington’s Disease — Third Edition.
Huntington’s disease – Wikipedia
The huntingtin protein interacts with over other proteins, and appears to have multiple biological functions. Retrieved 18 December Reported impairments range from short-term memory deficits to long-term memory difficulties, including deficits in episodic memory of one’s lifeprocedural memory of the body of how to perform an activity and working memory. How far the disease has progressed can be measured using the unified Huntington’s disease rating scalewhich provides an overall rating system based on motor, behavioral, cognitive, and functional assessments.
Participation in rehabilitation programs during early to middle stage of the disease may be beneficial as it translates into long term maintenance of motor and functional performance. Cognitive or behavioral symptoms are rarely the first symptoms uhntington they are usually only recognized in hindsight or when they develop further.
Journal of Genetic Counseling. Archived from the original on 9 April Compounds that have failed to prevent or slow progression of Huntington’s disease in human trials include remacemidecoenzyme Q10riluzolecreatineminocyclineethyl-EPAphenylbutyrate and dimebon.
Mutant Huntingtin protein has been found to play a key role in mitochondrial dysfunction. Philosophical Transactions of the Royal Society of London. Archived from the original on 5 March Retrieved 13 January Part of this gene is a repeated section called a trinucleotide repeatwhich varies in length between individuals and may change length between generations.
It also acts as an anti-apoptotic agent preventing guntington cell death and controls the production of brain-derived neurotrophic factora protein which protects neurons and regulates their creation during neurogenesis.
Archived from the original on 21 October Their functions are not fully understood, but current theories propose that they are part of the cognitive executive system  and the motor circuit. Retrieved 12 March Archived from the original on 14 July Archived from the original on 26 November International journal of palliative nursing.
Retrieved 5 May Among other innovations, the project developed DNA -marking methods which were an important step in dde the Human Genome Project possible. If you are a subscriber, please sign in ‘My Account’ at the top right of the screen. 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.
For some time HD was thought to be the only disease for which possession of a second mutated gene did not affect symptoms and progression,  but it has since been found that it can affect the phenotype and the rate of progression.