. . "2" . . "Huntington's Disease"@en . . . . "Huntingtonova nemoc" . "Huntington's Disease"@en . . . "Huntingtonova nemoc"@cs . . "\u010Cesk\u00E1 a slovensk\u00E1 neurologie a neurochirurgie" . "17"^^ . "Huntingtonova nemoc"@cs . . . "[73E0E1DC75B0]" . "Huntingtonova nemoc (HN) je autozom\u00E1ln\u011B dominantn\u011B d\u011Bdi\u010Dn\u00E9 neuropsychiatrick\u00E9 onemocn\u011Bn\u00ED s fat\u00E1ln\u00EDm pr\u016Fb\u011Bhem. Hlavn\u00EDmi klinick\u00FDmi projevy jsou hybn\u00E9 symptomy (p\u0159edev\u0161\u00EDm choretick\u00E9 dyskineze a poruchy voln\u00ED hybnosti), d\u00E1le progreduj\u00EDc\u00ED kognitivn\u00ED deteriorace a r\u016Fzn\u00E9 dal\u0161\u00ED psychick\u00E9 zm\u011Bny, p\u0159edev\u0161\u00EDm poruchy chov\u00E1n\u00ED, afektivn\u00ED symptomy aj. Podstatou mutace je expanze tripletu obsahuj\u00EDc\u00EDho cytosin-adenin-guanin (CAG) s kritickou hranic\u00ED 40 a v\u00EDce repetic\u00ED na kr\u00E1tk\u00E9m ram\u00E9nku 4.chromozomu. Produktem mutace je zm\u011Bn\u011Bn\u00FD protein naz\u00FDvan\u00FD huntingtin. Prevalence HN je p\u0159ibli\u017En\u011B 1 : 10-15 000. Typick\u00FD po\u010D\u00E1tek HN je ve 4. dek\u00E1d\u011B, existuj\u00ED v\u0161ak i pom\u011Brn\u011B vz\u00E1cn\u00E9 juveniln\u00ED formy HN i formy HN s pozdn\u00EDm po\u010D\u00E1tkem. Po\u010D\u00E1tek psychick\u00FDch symptom\u016F je necharakteristick\u00FD a p\u0159ev\u00E1\u017En\u011B se jedn\u00E1 o nespecifick\u00E9 zm\u011Bny osobnosti a chov\u00E1n\u00ED, afektivn\u00ED \u010Di kognitivn\u00ED poruchy." . "000277422500001" . . "I, Z(MSM0021620849)" . "73" . "Huntington's disease; CAG triplet; genetic testing; chorea; dementia; age-of-onset; trinucleotide repeat expansion; ubiquitin proteasome system; cag-repeat; basal ganglia; neuropsychiatric aspects; impaired recognition; friedreichs-ataxia; cerebral-cortex; white-matter"@en . "262368" . "Huntingtonova nemoc (HN) je autozom\u00E1ln\u011B dominantn\u011B d\u011Bdi\u010Dn\u00E9 neuropsychiatrick\u00E9 onemocn\u011Bn\u00ED s fat\u00E1ln\u00EDm pr\u016Fb\u011Bhem. Hlavn\u00EDmi klinick\u00FDmi projevy jsou hybn\u00E9 symptomy (p\u0159edev\u0161\u00EDm choretick\u00E9 dyskineze a poruchy voln\u00ED hybnosti), d\u00E1le progreduj\u00EDc\u00ED kognitivn\u00ED deteriorace a r\u016Fzn\u00E9 dal\u0161\u00ED psychick\u00E9 zm\u011Bny, p\u0159edev\u0161\u00EDm poruchy chov\u00E1n\u00ED, afektivn\u00ED symptomy aj. Podstatou mutace je expanze tripletu obsahuj\u00EDc\u00EDho cytosin-adenin-guanin (CAG) s kritickou hranic\u00ED 40 a v\u00EDce repetic\u00ED na kr\u00E1tk\u00E9m ram\u00E9nku 4.chromozomu. Produktem mutace je zm\u011Bn\u011Bn\u00FD protein naz\u00FDvan\u00FD huntingtin. Prevalence HN je p\u0159ibli\u017En\u011B 1 : 10-15 000. Typick\u00FD po\u010D\u00E1tek HN je ve 4. dek\u00E1d\u011B, existuj\u00ED v\u0161ak i pom\u011Brn\u011B vz\u00E1cn\u00E9 juveniln\u00ED formy HN i formy HN s pozdn\u00EDm po\u010D\u00E1tkem. Po\u010D\u00E1tek psychick\u00FDch symptom\u016F je necharakteristick\u00FD a p\u0159ev\u00E1\u017En\u011B se jedn\u00E1 o nespecifick\u00E9 zm\u011Bny osobnosti a chov\u00E1n\u00ED, afektivn\u00ED \u010Di kognitivn\u00ED poruchy."@cs . . . "1"^^ . . . "Roth, Jan" . "1"^^ . . "CZ - \u010Cesk\u00E1 republika" . "1210-7859" . "Huntington's disease (HD) is an autosomal dominantly inherited neuropsychiatric degenerative condition with a fatal prognosis. It is caused by mutation the expansion of CAG (containing cytosine-adenine-guanine) triplet repeats 40 and more at the short arm of 4th chromosome. The main clinical features are motor impairment (especially choreatic dyskinesias and the impairment of voluntary movements), progressive cognitive deterioration and personality changes. The product of the mutation is an aberrant protein known as huntingtin with an enlarged polyglutamine stretch. The prevalence of HD is approximately 1: 10-15,000. The typical onset of HD is in the 4th decade with a minority of cases starting in childhood or adolescence (juvenile HD) or in patients over 65 years of age (late-onset of HD). The initial symptoms are usually non-specific: behavioural changes, personality and affective disorders. As HD progresses, cognitive disturbance appears, leading to severe dementia."@en . "RIV/00064165:_____/10:6183" . . . "RIV/00064165:_____/10:6183!RIV11-MZ0-00064165" . . . . . "Huntingtonova nemoc" . . . . . .