Whispering dysphonia in TUBB4A-related disorders responsive to bipallidal deep brain stimulation.
TUBB4A
deep brain stimulation
dysphonia
dystonia
globus pallidum internus
Journal
European journal of neurology
ISSN: 1468-1331
Titre abrégé: Eur J Neurol
Pays: England
ID NLM: 9506311
Informations de publication
Date de publication:
03 2021
03 2021
Historique:
received:
15
08
2020
revised:
13
10
2020
accepted:
14
10
2020
pubmed:
22
10
2020
medline:
13
8
2021
entrez:
21
10
2020
Statut:
ppublish
Résumé
Mutations in TUBB4A are associated with a wide phenotypic spectrum including generalized dystonia with whispering dysphonia (DYT-TUBB4A). 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. 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. We suggest that bipallidal DBS should be considered in patients with disabling dystonia related to TUBB4A variants.
Sections du résumé
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.
Substances chimiques
TUBB4A protein, human
0
Tubulin
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
1082-1083Informations de copyright
© 2020 European Academy of Neurology.
Références
Lohmann K, Wilcox RA, Winkler S, et al. Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene: TUBB4 and DYT4 Dystonia. Ann Neurol. 2013;73:537-545.
Simons C, Wolf NI, McNeil N, et al. A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. Am J Hum Genet. 2013;92:767-773.
Parker N. Hereditary whispering dysphonia. J Neurol Neurosurg Psychiatry. 1985;48:218-224.
Reese R, Volkmann J. Deep brain stimulation for the dystonias: evidence, knowledge gaps, and practical considerations. Mov Disord Clin Pract. 2017;4:486-494.
Erro R, Hersheson J, Ganos C, et al. H-ABC syndrome and DYT4: variable expressivity or pleiotropy of TUBB4 mutations? Mov Disord. 2015;30:828-833.
Curiel J, Rodríguez Bey G, Takanohashi A, et al. TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes. Hum Mol Genet. 2017;26:4506-4518.