Cécile Delorme1,2, Emmanuel Roze1,2, Carine Karachi2,3, Marie Vidailhet1,2, Elodie Hainque1,2. 1. Département de Neurologie, Hôpital Pitié-Salpêtrière, AP-HP, Paris, France. 2. Faculté de Médecine de Sorbonne Université, UMR S 1127, Inserm U 1127, and CNRS UMR 7225, Institut du Cerveau et de la Moëlle Epinière, Paris, France. 3. Service de Neurochirurgie, Hôpital Pitié-Salpêtrière, AP-HP, Paris, France.
Abstract
BACKGROUND: Mutations in TUBB4A are associated with a wide phenotypic spectrum including generalized dystonia with whispering dysphonia (DYT-TUBB4A). METHODS: 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. RESULTS: 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. CONCLUSION: We suggest that bipallidal DBS should be considered in patients with disabling dystonia related to TUBB4A variants.
BACKGROUND: Mutations in TUBB4A are associated with a wide phenotypic spectrum including generalized dystonia with whispering dysphonia (DYT-TUBB4A). METHODS: 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. RESULTS: 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. CONCLUSION: We suggest that bipallidal DBS should be considered in patients with disabling dystonia related to TUBB4A variants.
Authors: Julien F Bally; Drew S Kern; Conor Fearon; Sarah Camargos; Francisco Pereira da Silva-Junior; Egberto Reis Barbosa; Laurie J Ozelius; Patricia de Carvalho Aguiar; Anthony E Lang Journal: Mov Disord Clin Pract Date: 2022-04-28