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

J Neurol Sci. 2022 Jul 15:438:120295. doi: 10.1016/j.jns.2022.120295. Epub 2022 May 23.

Authors

E Luque Buzo¹, B De la Casa-Fages², M González Sánchez¹, J R Pérez Sánchez¹, C Fernández Carballal³, J Garbizu Vidorreta³, O Mateo Sierra³, A Contreras Chicote¹, F Grandas¹

Affiliations

¹ Movement Disorders Unit, Department of Neurology, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
² Movement Disorders Unit, Department of Neurology, Hospital General Universitario Gregorio Marañón, Madrid, Spain. Electronic address: beatriz.delacasa@salud.madrid.org.
³ Department of Neurosurgery, Hospital General Universitario Gregorio Marañón, Madrid, Spain.

PMID: 35635862
DOI: 10.1016/j.jns.2022.120295

No abstract available

Keywords: Adult-onset; Cervical dystonia; Deep brain stimulation; KMT2B.

Publication types

Letter

MeSH terms

Adult
Deep Brain Stimulation*
Dystonic Disorders* / genetics
Dystonic Disorders* / therapy
Globus Pallidus / diagnostic imaging
Histone-Lysine N-Methyltransferase
Humans
Siblings
Treatment Outcome

Substances

Histone-Lysine N-Methyltransferase
KMT2B protein, human