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Statements

Subject Item
n2:RIV%2F00064165%3A_____%2F13%3A10190867%21RIV14-MZ0-00064165
rdf:type
skos:Concept n10:Vysledek
dcterms:description
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 temporarily effectivelly 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 confirmed by a genetic test. In persons at risk (the offspring of the ill or positively tested person) who want to know their genetic state, presymptomatic DNA testing is perfiormed using a specific protocol. Prenatal testing is also possible. 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 temporarily effectivelly 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 confirmed by a genetic test. In persons at risk (the offspring of the ill or positively tested person) who want to know their genetic state, presymptomatic DNA testing is perfiormed using a specific protocol. Prenatal testing is also possible.
dcterms:title
Huntington's disease Huntington's disease
skos:prefLabel
Huntington's disease Huntington's disease
skos:notation
RIV/00064165:_____/13:10190867!RIV14-MZ0-00064165
n10:predkladatel
n11:ico%3A00064165
n4:aktivita
n15:V n15:Z
n4:aktivity
V, Z(MSM0021620849)
n4:dodaniDat
n12:2014
n4:domaciTvurceVysledku
n6:4392248 n6:3958809
n4:druhVysledku
n19:C
n4:duvernostUdaju
n13:S
n4:entitaPredkladatele
n18:predkladatel
n4:idSjednocenehoVysledku
78357
n4:idVysledku
RIV/00064165:_____/13:10190867
n4:jazykVysledku
n16:eng
n4:klicovaSlova
DNA testing; choreatic dyskinesias; apathy; irritability; anxiety; depression; Huntington's disease
n4:klicoveSlovo
n9:DNA%20testing n9:choreatic%20dyskinesias n9:anxiety n9:irritability n9:depression n9:Huntington%27s%20disease n9:apathy
n4:kontrolniKodProRIV
[4A7783375C2D]
n4:mistoVydani
New York
n4:nazevEdiceCisloSvazku
Psychology Research Progress
n4:nazevZdroje
Cognitive deficit in mental and neurological disorders
n4:obor
n17:FH
n4:pocetDomacichTvurcuVysledku
2
n4:pocetStranKnihy
454
n4:pocetTvurcuVysledku
2
n4:rokUplatneniVysledku
n12:2013
n4:tvurceVysledku
Roth, Jan Klempíř, Jiří
n4:zamer
n7:MSM0021620849
s:numberOfPages
27
n8:hasPublisher
Nova Science Publishers
n20:isbn
978-1-60741-957-0