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Whispering dysphonia in TUBB4A ‐related disorders responsive to bipallidal deep brain stimulation
Author(s) -
Delorme Cécile,
Roze Emmanuel,
Karachi Carine,
Vidailhet Marie,
Hainque Elodie
Publication year - 2021
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/ene.14602
Subject(s) - cervical dystonia , deep brain stimulation , dystonia , medicine , stimulation , audiology , anesthesia , psychiatry , disease , parkinson's disease
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.