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.

Author: Memi Samutaur
Country: Portugal
Language: English (Spanish)
Genre: Health and Food
Published (Last): 8 December 2012
Pages: 87
PDF File Size: 11.95 Mb
ePub File Size: 3.37 Mb
ISBN: 452-5-17913-210-1
Downloads: 86125
Price: Free* [*Free Regsitration Required]
Uploader: Mikazil

Medical and Surgical Reporter of Philadelphia.

There was a problem providing the content you requested

Choee picture of the day. Part B, Neuropsychiatric Genetics. Embryos produced using in vitro fertilization may be genetically tested for HD using preimplantation genetic diagnosis PGD. A number of these collaborate in umbrella organizations, like the International Huntington Association and the European HD network. Mutant Huntingtin protein has been found to play a key role in mitochondrial dysfunction.

Top of the page – Article Outline. Cerebral atrophy can be seen in the advanced stages of the disease. You may thus request that your data, ee it be inaccurate, incomplete, unclear, outdated, not be used or stored, be corrected, clarified, updated or deleted. Adult personality and behavior. Although Huntington’s has been recognized as a disorder since at least the Middle Agesthe cause has been unknown until fairly recently.

No other drugs were associated. 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, [28] but it has since been found that it can affect the phenotype and the rate of progression. There is no cure for HD.


Testing before the onset of symptoms is a life-changing event and a very personal decision. Research is conducted using in vitro methods, animal models and human volunteers.

Excitotoxins may cause damage to numerous cellular structures.

The discovery that mHTT fragments misfold led to the discovery of the nuclear inclusions they cause. Other autosomal dominant diseases that can be misdiagnosed as HD are dentatorubral-pallidoluysian atrophy and neuroferritinopathy.

These advances have led to increasingly extensive research into the proteins involved with the disease, potential drug treatments, care methods, and the gene itself. Archived from the original on 21 August 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.

The Journal of Nervous and Mental Disease. Tremor and Other Hyperkinetic Movements. Adjustment disorder with depressed mood. Archived from the original on 11 August HD affects the whole brain, but certain areas are more vulnerable than others.

Huntington’s disease – Wikipedia

This technique, where one or two cells are extracted from a typically 4- to 8-cell embryo and hunitngton tested for the genetic abnormality, can then be used to ensure embryos affected with HD genes are not implanted, and therefore any offspring will not inherit the disease. These include chorea acanthocytosis and pantothenate kinase-associated neurodegeneration. Genetic counseling is available to provide advice and guidance throughout the testing procedure, and on the implications of a confirmed diagnosis.

Compounds that have failed to prevent or slow progression of Huntington’s disease in human trials include remacemidecoenzyme Q10riluzolecreatineminocyclineethyl-EPAphenylbutyrate and dimebon.

An Interpretative Phenomenological Analysis”. Dentatorubral-pallidoluysian atrophy Huntington’s disease Kennedy disease Spinocerebellar ataxia 1, 2, 3, 6, 7, 17 Machado-Joseph disease. Retrieved 13 January Archived from the original on 17 November huntigton Huntington’s and the Making of a Genetic Disease. Mutant Huntingtin is expressed throughout the body and associated with abnormalities in peripheral tissues that are directly caused by such expression outside the brain.


Retrieved 17 March The differing functions of these proteins are the cause of pathological changes which in turn cause the disease symptoms. There is consensus for testing only individuals who are considered cognitively mature, although there is chiree counter-argument that parents have a right to make the decision on their child’s behalf. Retrieved 23 February Weight loss and eating difficulties due to dysphagia and other muscle discoordination are common, making nutrition management increasingly important as the disease advances.

If the repeat is present in a healthy gene, a dynamic mutation may increase the repeat count and result in a defective gene. Archived from the original on 4 July Poliomyelitis Demyelinating disease Transverse myelitis Tropical spastic paraparesis Epidural abscess. The Times of Israel.

Retrieved 19 July People with Huntington’s disease may see a physical therapist for non-invasive and non-medication-based ways of managing the physical symptoms. Inafter huntinfton HD in his wife’s family, Dr. Rehabilitation during the late stage aims to compensate for motor and functional losses.

Several clinical trials of new experimental treatments are underway and planned in Huntington’s disease. As the ability to synchronize movements deteriorates, difficulty clearing the lungs and an increased risk of aspirating food or drink both increase the risk of contracting pneumonia. Archived from the original on 8 March