Pallidal deep brain stimulation response in two siblings with atypical adult-onset dystonia related to a KMT2B variant

•Missense variants of uncertain significance in KMT2B may be related to a later dystonia onset in adulthood.•KMT2B related dystonia has a favourable response to GPi-DBS.•KMT2B related dystonia may present with cervical and axial predominant phenotype.

Bibliographische Detailangaben

Veröffentlicht in:	Journal of the neurological sciences 2022-07, Vol.438, p.120295-120295, Article 120295
Hauptverfasser:	Buzo, E. Luque, De la Casa-Fages, B., Sánchez, M. González, Sánchez, J.R. Pérez, Carballal, C. Fernández, Vidorreta, J. Garbizu, Sierra, O. Mateo, Chicote, A. Contreras, Grandas, F.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Adult-onset Cervical dystonia Deep Brain Stimulation Dystonic Disorders - genetics Dystonic Disorders - therapy Globus Pallidus - diagnostic imaging Histone-Lysine N-Methyltransferase Humans KMT2B Siblings Treatment Outcome
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!