[New knowledge of the etiology and pathogenesis of Huntington chorea].
Huntington's disease (HD) is a neurodegenerative disorder for which no causal therapy is currently available. It is inherited as an autosomal dominant trait and the responsible gene was localized 10 years ago to chromosome 4. Recently the gene has been identified. This discovery now allows a definitive diagnosis to be made in most cases. Preclinical testing, however, requires careful psychological counselling. So far the structure and function of the gene product are unknown. Using experimental neurotoxicological methods it is possible to mimic several features of the disease process to such an extent that preliminary hypotheses regarding the function of the encoded protein are possible. It will be of great interest to see how the results of molecular genetic studies and of experimental research can be synthesized in the future.
Neurologische Klinik, Universitätsklinikum Charité.
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Meierkord
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Pfeiffer
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Ludolph
D000328:Adult; D002894:Chromosomes, Human, Pair 4; D005260:Female; D005820:Genetic Testing; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009410:Nerve Degeneration / Q000235:genetics / Q000502:physiology; D011247:Pregnancy; D011296:Prenatal Diagnosis; D009435:Synaptic Transmission / Q000235:genetics / Q000502:physiology
Neue Erkenntnisse zu Atiologie und Pathogenese der Chorea Huntington.