The inherited ataxias

Published on August 5, 2014   39 min

Other Talks in the Series: The Genetic Basis of Neurological Disorders

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I'm Paola Giunti, and I'm the head of the Ataxia Center at UCLH at Queen's Square, London. And today, I'm going to talk about the Inherited Ataxias.
First of all, I would like to talk about what ataxia means. So ataxia is a Greek word and "a" stands for absence and "taxia" stands for coordination. So basically, ataxia is lack of order and lack of coordination. The main feature is the loss of balance that produces unsteadiness and wide-based gate with swaying and risk of falls. Limb movements are also involved in this doses process. And they can become irregular, fragmented, and there is evidence of tremor. The eye movement are interrupted. There Is what we call nystagmus and the fixation may be unstable. So that creates double vision for the patient. The speech becomes slurred and the speed and volume is altered.
Inherited ataxias can be congenital, episodic, or progressive. And the inheritance may be autosomal dominant, recessive, or x-linked. Also we have a different inheridities mitochondrial in this disorder.