ArticleJournal of movement disorders2020
Successful Pallidal Stimulation in a Patient with KMT2B-Related Dystonia.
Article in Journal of movement disorders, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.
- Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype-phenotype correlations of all published cases.Molecular biology reports · 2021Pooled it
- Clinical, imaging and genetic profile of KMT2B-related dystonia: a review of published cases.Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Article
- Transcriptional co-activators: emerging roles in signaling pathways and potential therapeutic targets for diseases.Signal transduction and targeted therapy · 2023Review
- KMT2B-Related Dystonia in Indian Patients With Literature Review and Emphasis on Asian Cohort.Journal of movement disorders · 2023Article
- GPi DBS treatment outcome in children with monogenic dystonia: a case series and review of the literature.Frontiers in neurology · 2023Article
- Dystonic Tremor in Adult-onset DYT-KMT2B.Internal medicine (Tokyo, Japan) · 2022Article
- GPi-DBS forMovement disorders clinical practice · 2022Review
- Arching deep brain stimulation in dystonia types.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Deep Brain Stimulation in KMT2B-Related Dystonia: Case Report and Review of the Literature With Special Emphasis on Dysarthria and Speech.Frontiers in neurology · 2021Article
- KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.Brain : a journal of neurology · 2020Article
- Radiofrequency ablation for DYT-28 dystonia: short term follow-up of three adult cases.Annals of clinical and translational neurology · 2020Article
- Pallidal Deep Brain Stimulation forAnnals of Indian Academy of NeurologyArticle
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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Registered trials
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