COREA DE HUNTINGTON PDF

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Juvenile Huntington disease JHD is a form of Huntington disease HD; see this term , characterized by onset of signs and symptoms before 20 years of age. Behavioral disturbances and learning difficulties at school are often the first signs.

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Fahn S, Jankovic J. Huntington disease. En: Principles and practice of movement disorders. Philadelphia: Editorial Churchil livingstone Elsevier; George Huntington En: The Founders of Neurology. Illinois: Ed. Springfield Charles C Thomas Pub; Rev Neurol. Biglan KM, Shoulson I. En: Hallett M, Poewe W. En: Manifestaciones tempranas de la Ataxia espinocerebelosa tipo 2. Huntington's disease Collaborative Research Group.

A novel gen containg a trinucleotide repeats that is expanded and instable on Huntington's disease chromosoma. Azzarelli A. Barcelona: Editorial Edisma; Landles C, Bates G. Huntingtin and the molecular pathogenesis of Huntington disease. Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes.

Am J Hum Genet. Proc Natl Acad Sci. Technical standars and guidelines for Huntington disease testing. Genet Med. Mov Disord. Age at onset in Huntington's disease: effect on line of inherintance and patient's sex. Nat Genet. J Neuropathol Exp Neurol. Handbook of Clinical Neurology. Amsterdam: Editorial Elsevier; Striatal inhomogeneities and basal gan-glia function.

Ann Neurol. Jankovic J. Movement Disorders. Philadelphia: Editorial Elsevier Saunders; Ropper AH, Samuels A. Philadelphia: Ed.

McGraw-Hill; Presymptomatic DNA testing for Huntington disease: identifying the need for psychological intervention. Am J Med Genet. Cochrane Database Syst. Huntington Study Group. Tetrabenazine as antichorea therapy in Huntington disease: a randomized controlled trial. Adam OR, Jankovic J. Symptomatic treatment of Huntington disease.

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Huntington's disease

These manuscripts contain updated topics with a major clinical or conceptual relevance in modern medicine. The journal adheres to the standards of academic research publications in all aspects including peer-review and ethical principles. The Impact Factor measures the average number of citations received in a particular year by papers published in the journal during the two receding years. CiteScore measures average citations received per document published. Read more. SRJ is a prestige metric based on the idea that not all citations are the same.

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Huntington’s Disease Associations

Huntington disease is clinically characterized by progressive unintentional choreoathetoid movements, subcortical type dementia, behavioral changes, and psychosis which starts in midlife. On imaging, it is classically characterized by atrophy of the caudate nucleus with concomitant enlargement of the frontal horns of the lateral ventricles. Huntington disease has a prevalence of per , and is typically diagnosed between 30 and 50 years of age 3. Incidence is equal in both genders, although there appears to be an effect depending on the gender of the parent from whom the defect was inherited: if inherited from the father, presentation is earlier. The cause for this effect is as yet uncertain 3.

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Los niños también pueden padecer enfermedad de Huntington

Huntington's disease HD , also known as Huntington's chorea , is an inherited disorder that results in the death of brain cells. There is no cure for HD. The first likely description of the disease was in by American physician Charles Oscar Waters. The most characteristic initial physical symptoms are jerky, random, and uncontrollable movements called chorea. Common consequences are physical instability, abnormal facial expression, and difficulties chewing, swallowing , and speaking. Seizures are also a common symptom of this form of HD.

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