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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Archived from the original on 20 September These include chorea acanthocytosis and pantothenate kinase-associated neurodegeneration.

This procedure looks at the amniotic fluid surrounding the baby for indicators of the HD mutation. Migraine Familial hemiplegic Cluster Tension. Retrieved 8 September Archived from the original on 21 August Early damage is most evident in the striatumbut as the disease progresses, other areas of the brain are also more conspicuously affected.

Retrieved 4 February HD affects the whole brain, but certain areas are more vulnerable than others. An ce can be performed if the pregnancy is further along, within 14—18 weeks. Waters described “a form of chorea, vulgarly called magrums”, including accurate descriptions of the chorea, its progression, and the strong heredity of the disease.

Huntington’s disease

The issues for genetic cyoree include defining how mature an huntigton 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. It was also effective on choreiform movements. As per the Law relating to information storage and personal integrity, you have the right to oppose art 26 of that lawaccess art 34 of that law and rectify art 36 of that law your personal data.


Modelling the disease in various types of animals, such as the transgenic mouse developed inenabled larger scale experiments. Archived from the original on 3 May Reported neuropsychiatric manifestations are anxietydepressiona reduced display of emotions blunted affecthuntingtoonaggressionand compulsive behaviorthe latter of which can cause or worsen addictionsincluding alcoholismgamblingand hypersexuality.

Encephalomyelitis Acute disseminated Myalgic Meningoencephalitis. The Journal of Neuropsychiatry and Clinical Neurosciences.

Gene silencing experiments in mouse models have shown that when the expression of mHTT is reduced, symptoms improve. Hereditary Disease Foundation website. Retrieved 13 January Journal of Medical Genetics. Previous case reports suggest the potential be-nefits of use of clozapine on psychotic symptoms in Huntington’s chorea. Pneumoniaheart diseasephysical injury from falls, suicide [3].

Huntington’s disease – Wikipedia

Archived from the original on 28 June If these are abrupt and have random timing and distribution, chiree suggest a diagnosis of HD. Expert Reviews in Molecular Medicine. Archived from the original on 4 March Substrates, Differential Diagnosis, and Management, 3rd Ed.

HTT also facilitates vesicular transport and synaptic transmission and controls neuronal gene transcription.

Although glutamine is not found in excessively high amounts, it has been postulated that because of the increased vulnerability, even normal amounts glutamine can cause excitotoxins to be expressed.

Thus, the glutamines on CBP interact directly with the increased numbers of glutamine on the HTT chain and CBP gets pulled away from its typical location next to the nucleus. Generally, people have fewer than 36 repeated glutamines in the polyQ region which results in production of the cytoplasmic protein Huntingtin. To initiate a particular movement, the cerebral cortex sends a signal to the basal ganglia that causes the inhibition to be released.

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.

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The late onset of Huntington’s disease means it does not usually affect reproduction. In other projects Wikimedia Commons. In some cases the onset may be so late that symptoms are never noticed. Research is being conducted on many different approaches to prevent Huntington’s disease or slow its progression. Gene silencing aims to reduce the production of the mutant protein, since HD is caused by a single dominant gene encoding a toxic protein.

Nutrition in Clinical Practice. The rate of occurrence is highest in peoples of Western European descent, averaging around 7 perpeople, and is lower in the rest of the world; e. There are also autosomal recessive disorders df resemble sporadic cases of HD. Damage to the basal ganglia can cause the release or reinstatement of the inhibitions to be erratic and uncontrolled, which results in an awkward start to motion or motions to be unintentionally initiated, or a huntingtn to be halted before, or beyond, its intended completion.

Archived from the original huntngton 29 September Archived from the original on 9 July X-linked intellectual disability Lujan—Fryns syndrome.

Dentatorubral-pallidoluysian atrophy Huntington’s disease Kennedy disease Spinocerebellar ataxia 1, 2, 3, 6, 7, 17 Machado-Joseph disease. Ve huntingtin protein interacts with over other proteins, and appears to have multiple biological functions.

Experiments have yielded mixed results using this technique in animal models and preliminary human clinical trials.