Huntington's disease

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F13%3A10190867" target="_blank" >RIV/00216208:11110/13:10190867 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064165:_____/13:10190867

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Huntington's disease

Popis výsledku v původním jazyce

Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disease caused by gene mutation on a short arm of the 4th chromosome, with incidence of about 1 10-15,000. The mutation consists in expansion of CAG triplet with critical limit of about 40 repeats. HD is manifested by combination of motor symptoms (especially, the choreatic dyskinesias are characteristic), neuropsychiatric disorders (depression, anxiety, irritability or apathy, obsession and compulsion, psychotic symptoms)and progressing dementia. Typically, HD begins between 35th and 50th year of age, however, juvenile and late forms also exist. The progression of HD cannot be substantially therapeutically influenced, but some of the symptoms may be at least temporarilyeffectivelly confronted using pharmacological and psychosocial interventions. However, the course of HD leads unevitably to the total dependency on the neighbourhood and patients die in uncontrollable marasmus. The diagnosis of HD is conf

Název v anglickém jazyce

Huntington's disease

Popis výsledku anglicky

Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disease caused by gene mutation on a short arm of the 4th chromosome, with incidence of about 1 10-15,000. The mutation consists in expansion of CAG triplet with critical limit of about 40 repeats. HD is manifested by combination of motor symptoms (especially, the choreatic dyskinesias are characteristic), neuropsychiatric disorders (depression, anxiety, irritability or apathy, obsession and compulsion, psychotic symptoms)and progressing dementia. Typically, HD begins between 35th and 50th year of age, however, juvenile and late forms also exist. The progression of HD cannot be substantially therapeutically influenced, but some of the symptoms may be at least temporarilyeffectivelly confronted using pharmacological and psychosocial interventions. However, the course of HD leads unevitably to the total dependency on the neighbourhood and patients die in uncontrollable marasmus. The diagnosis of HD is conf

Druh

C - Kapitola v odborné knize

CEP obor

FH - Neurologie, neurochirurgie, neurovědy

OECD FORD obor

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Projekt

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Návaznosti

Z - Vyzkumny zamer (s odkazem do CEZ)

Rok uplatnění

2013

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název knihy nebo sborníku

Cognitive deficit in mental and neurological disorders

ISBN

978-1-60741-957-0

Počet stran výsledku

27

Strana od-do

263-289

Počet stran knihy

454

Název nakladatele

Nova Science Publishers

Místo vydání

New York

Kód UT WoS kapitoly

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