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: Nikasa Turg
Country: Qatar
Language: English (Spanish)
Genre: Life
Published (Last): 11 April 2018
Pages: 358
PDF File Size: 3.89 Mb
ePub File Size: 6.64 Mb
ISBN: 976-1-18214-696-9
Downloads: 65356
Price: Free* [*Free Regsitration Required]
Uploader: Zulkishakar

Hkntington lower daily dose than those classicaly used in schizophrenia was sufficient to obtain efficient treatment.

If you want to subscribe to this journal, see our rates. Even before the onset of symptoms, genetic testing can confirm if an individual or embryo carries an expanded copy of the trinucleotide repeat in the HTT gene that causes the disease. Physical therapists may implement fall risk assessment and prevention, as huntinyton as strengthening, stretching, and cardiovascular exercises.

There was a problem providing the content you requested

Retrieved from ” https: International Review of Neurobiology. Journal of Health Psychology.

Trends in Biochemical Sciences. The most prominent early effects are in a part of the basal ganglia called the neostriatumwhich is composed of the caudate nucleus and putamen.

Hintington described the exact pattern of inheritance of autosomal dominant disease years before the rediscovery by scientists of Mendelian inheritance. Functional neuroimaging techniques, huntingon as functional magnetic resonance imaging fMRI and positron emission hungington PETcan show changes in brain activity before the onset of physical symptoms, but they are experimental tools, and are not used clinically.


Philosophical Transactions of the Royal Society of London. A Study in Heredity”. Retrieved 14 April Neurology and Clinical Neuroscience. 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.

Disorders typically diagnosed in childhood Intellectual disability X-linked intellectual disability Lujan—Fryns syndrome. Examining the combined medical history of several generations of a family exhibiting similar symptoms, he realized their conditions must be linked; he presented his detailed and accurate definition huntingotn the disease as his first paper.

Caspasean enzyme which plays a role in catalyzing apoptosis, is thought to be activated by the mutated gene through damaging the ubiquitin-protease system.

Reported impairments range from short-term memory deficits to long-term memory difficulties, including deficits in episodic dhoree of one’s lifeprocedural memory of the body of how to perform an activity and working memory. This page was last edited on 29 Decemberat Previous case reports suggest the potential be-nefits of use of clozapine on psychotic symptoms in Huntington’s chorea.

Retrieved 18 April 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. Oxidative Medicine se Cellular Longevity.

It involved over 18, people—mostly from a single extended family.

Huntington’s disease – Wikipedia

Since then, support and research organizations have formed in many countries around the world and have helped to increase public awareness of HD. The families of individuals, and society at large, who have inherited or are at risk of inheriting HD have generations of experience of HD, but may be unaware of recent breakthroughs in understanding the disease, and of the availability of genetic testing. Waters described “a form of chorea, vulgarly called magrums”, including accurate descriptions of the chorea, its progression, and the strong heredity of the disease.


It was also effective on choreiform movements. Personality disorder Impulse control disorder Kleptomania Trichotillomania Pyromania Dermatillomania Factitious disorder Munchausen syndrome. The largest funder of Huntington’s disease research globally, in terms of financial expenditure, [] is the CHDI Foundationa US non-profit biomedical foundation that aims to “rapidly discover and develop drugs that delay or slow Huntington’s disease”.

One X-linked disorder of this type is McLeod syndrome. Retrieved 7 May Archived from the original on 15 December HD is one of several trinucleotide repeat disorders which are caused by the length of a repeated section of a gene exceeding a normal range. Huntington’s disease HDalso known as Huntington’s choreais an inherited disorder that results in death of brain cells.

The accumulating damage to this area causes the characteristic erratic movements associated with HD. Brain Encephalitis Viral encephalitis Herpesviral encephalitis Limbic encephalitis Encephalitis lethargica Cavernous sinus thrombosis Brain abscess Amoebic.

Cognitive abilities are progressively impaired.

Archived from the original on 9 July There are also autosomal recessive disorders that resemble sporadic cases of Huntijgton. The parents can be counseled on their options, which include termination of pregnancyand on the difficulties of a child with the identified gene.

Several clinical trials of new experimental treatments are underway and planned in Huntington’s disease.