DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations.

Détails

ID Serval
serval:BIB_AC699A0A2882
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations.
Périodique
Neurology
Auteur⸱e⸱s
Bally J.F., Camargos S., Oliveira Dos Santos C., Kern D.S., Lee T., Pereira da Silva-Junior F., Puga R.D., Cardoso F., Barbosa E.R., Yadav R., Ozelius L.J., de Carvalho Aguiar P., Lang A.E.
ISSN
1526-632X (Electronic)
ISSN-L
0028-3878
Statut éditorial
Publié
Date de publication
06/04/2021
Peer-reviewed
Oui
Volume
96
Numéro
14
Pages
e1887-e1897
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Résumé
To report 4 novel TUBB4A mutations leading to laryngeal and cervical dystonia with frequent generalization.
We screened 4 families including a total of 11 definitely affected members with a clinical picture resembling the original description.
Four novel variants in the TUBB4A gene have been identified: D295N, R46M, Q424H, and R121W. In silico modeling showed that all variants have characteristics similar to R2G. The variants segregate with the disease in 3 of the families with evidence of incomplete penetrance in 2 of them. All 4 variants would be classified as likely pathogenic. The clinical picture particularly included laryngeal dystonia (often the site of onset), associated with cervical and upper limb dystonia and frequent generalization. Laryngeal dystonia was extremely prevalent (>90%) both in the original cases and in this case series. The hobby horse gait was evident in only 1 patient in this case series.
Our interpretation is that laryngeal involvement is a hallmark feature of DYT-TUBB4A. Nevertheless, TUBB4A mutations remain an exceedingly rare cause of laryngeal or other isolated dystonia.
Mots-clé
Adolescent, Adult, Child, Child, Preschool, Dystonia/genetics, Dystonia Musculorum Deformans/genetics, Female, Humans, Male, Middle Aged, Pedigree, Polymorphism, Single Nucleotide, Tubulin/genetics, Voice Disorders/congenital, Voice Disorders/genetics, Young Adult
Pubmed
Web of science
Création de la notice
26/04/2021 14:50
Dernière modification de la notice
26/06/2021 7:14
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