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

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.

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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
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Beschreibung
Zusammenfassung:•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.
ISSN:0022-510X
1878-5883
DOI:10.1016/j.jns.2022.120295