Neurol. pro Praxi, 2006; 2: 72-75

Hereditárne motorické axonopatie

prof. MUDr. Ľubomír Lisý, DrSc.
Neurologická klinika SZU a FNsP Bratislava-Ružinov

Rýchlo sa rozvíjajúce molekulárnogenetické štúdie prispeli v poslednej dobe rozpoznaniu príčin u viacerých typov axonálnych a neuronálnych motorických neuropatií. Postupne sa zisťuje ich značná etiopatogenetická heterogénnosť ako aj jej vzájomné prepojenia. Rôzna lokalizácia mutácie v tom istom géne môže byť spojená s odlišným fenotypovým vyjadrením poruchy tak v oblasti proximálneho ako aj distálneho motoneurónu. Vzhľadom na energetickú náročnosť transportu rôznych substancii v dlhých motorických axónoch dominujú v tejto skupine ochorení poruchy funkcie proteínov zabezpečujúcich axonálny a endozomálny transport, integritu mitochondrií, ale tiež kontrolujúcich oxidatívny stres, zabezpečujúcich a regulujúcich RNA.

Keywords: Kľúčové slová: hereditárna spastická paraplégia, choroba Charcot-Marie-Toth, motor neuron disease, ALS, spinálna muskulárna atrofia.

Published: May 1, 2006  Show citation

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Lisý Ľ. Hereditárne motorické axonopatie. Neurol. praxi. 2006;7(2):72-75.
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