Neurol. pro Praxi, 2004; 3: 167-170

Genetická heterogenita a fenotypová variabilita tzv. asociovaných príznakov u neurodegeneratívnych ochorení. Pes cavus

prof. MUDr. Pavel Varsik DrSc, MUDr. Zoltán Goldenberg, MUDr. Pavol Kučera Ph.D, MUDr. Darina Buranová Ph.D, prof. MUDr. Pavel Traubner PhD
I. neurologická klinika FNsP, Bratislava

Published: December 31, 2004  Show citation

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Varsik P, Goldenberg Z, Kučera P, Buranová D, Traubner P. Genetická heterogenita a fenotypová variabilita tzv. asociovaných príznakov u neurodegeneratívnych ochorení. Pes cavus. Neurol. praxi. 2004;7(3):167-170.

Skupina neurodegeneratívnych ochorení sa často ešte i dnes považuje za skupinu diagnosticky kontroverznú pre súčasný výskyt značnej heterogenity z genetického hľadiska (výskyt poruchy na rôznych chromozómových lokusoch) a klinicky značnú fenotypovú variabilitu (okrem klasického klinického symptómového komplexu sa často vyskytujú tzv. syndrómy plus). V diagnostike teda často môžu byť dôležité i tzv. asociované príznaky, medzi ktoré patrí i PES CAVUS, často označovaný i ako Friedreichova noha. Tento príznak sa môže vyskytnúť ako klasická súčasť fenotypu niektorých ochorení (HSMN, Friedreichovej choroby alebo hereditárnej spastickej paraplégie), ale i ako príznak abortívnej formy ochorenia alebo môže byť iba sporadickým izolovaným príznakom. Domnievame sa, že pre klinickú prax je dôležité správne a korektné využitie tohto klinického asociovaného príznaku.

Kľúčové slová

PES CAVUS, genetická heterogenita, fenotypová variabilita, asociované príznaky.

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