{Reference Type}: Case Reports
{Title}: Whispering dysphonia in TUBB4A-related disorders responsive to bipallidal deep brain stimulation.
{Author}: Delorme C;Roze E;Karachi C;Vidailhet M;Hainque E;
{Journal}: Eur J Neurol
{Volume}: 28
{Issue}: 3
{Year}: 03 2021
{Factor}: 6.288
{DOI}: 10.1111/ene.14602
{Abstract}: Mutations in TUBB4A are associated with a wide phenotypic spectrum including generalized dystonia with whispering dysphonia (DYT-TUBB4A).<BR>We report the case of a 44-year-old patient with DYT-TUBB4A with a clinical presentation of disabling progressive dystonia, with a prominent laryngeal, cervical and facial involvement.<BR>Bipallidal deep brain stimulation (DBS) resulted in a 55% reduction of dystonia severity assessed by the Burke-Fahn-Marsden scale score 6 months after surgery. The effect was obvious on the cervical and facial components of dystonia.<BR>We suggest that bipallidal DBS should be considered in patients with disabling dystonia related to TUBB4A variants.