Abstract
Whispering dysphonia (DYT4 dystonia) is a dominantly inherited disorder previously described in an Australian family. The clinical phenotype is of spasmodic dysphonia associated with additional focal or generalised dystonia and a characteristic facies and body habitus. Recently, the cause of whispering dysphonia was found to be a mutation in the TUBB4 gene, which encodes for a neuronally expressed tubulin. We aimed to determine whether microtubular function was impaired as a consequence of this TUBB4 mutation. We studied olfactory neurosphere cell lines derived from three affected individuals and three controls. Tubulin end-binding protein (EB3) was fluorescently tagged, allowing us to assess microtubule dynamics using time-lapse imaging in live cells. We found that there was a significant reduction in the density of microtubules and in the speed of microtubule formation. The results suggest that the TUBB4 mutation leads to a reduction in microtubule density and a decrease in the speed of microtubule formation, supporting the notion that microtubule dysfunction can play a role in the pathophysiology of dystonia.
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