Journal of Movement Disorders · 2020 · 17 citations · 7 references
Life SciencesNeurologyNeuroscienceClinical NeuroscienceMovement DisordersNeurogeneticsBasal GangliaDeep Brain StimulationGenetic DisordersMovement Disorder GeneticsNeurodevelopmental DisordersNeurogenetic DisordersDevelopmental Delay GeneticsDystonia TreatmentExome SequencingGeneralized Dystonia SurgeryGlobus Pallidus External SegmentGlobus Pallidus Internus TargetingPallidal Deep Brain StimulationWhole Exome Sequencing Studies
Although the KMT2B gene was identified as a causative gene for early-onset generalized dystonia, the efficacy of deep brain stimulation (DBS) in KMT2B-related dystonia has not been clearly elucidated. Here, we describe a 28-year-old woman who developed generalized dystonia with developmental delay, microcephaly, short stature, and cognitive decline. She was diagnosed with KMT2B- related dystonia using whole-exome sequencing with a heterozygous frameshift insertion of c.515dupC (p.T172fs) in the KMT2B gene. Oral medications and botulinum toxin injection were not effective. The dystonia markedly improved with bilateral pallidal DBS (the Burke-Fahn-Marsden Dystonia Rating Scale score was reduced from 30 to 5 on the dystonia movement scale and from 11 to 1 on the disability scale), and she could walk independently. From this case, we suggest that bilateral globus pallidus internus DBS can be an effective treatment option for patients with KMT2B-related generalized dystonia.
7
Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
Esther Meyer, Keren Carss, Julia Rankin et al. · Nature Genetics · 2016 · 245 citations · Full text
Michael Zech, Sylvia Boesch, Esther M. Maier et al. · The American Journal of Human Genetics · 2016 · 175 citations · Full text