3 papers
q-bio.NC2025
Freezing of Gait as a Complication of Pallidal Deep Brain Stimulation in DYT- KMT2B Patients with Evidence of Striatonigral Degeneration
Laura Cif, Diane Demailly, Xavier Vasques +4
Background: Mutations in KMT2B are a recognized cause of early-onset complex dystonia, with deep brain stimulation (DBS) of the internal globus pallidus (GPi-DBS) being an effectiv…
q-bio.NC2025
Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: an open-label study
Laura Cif, Xavier Vasques, Victoria Gonzalez +7
Long-term efficacy of internal globus pallidus (GPi) deep-brain stimulation (DBS) in DYT1 dystonia and disease progression under DBS was studied. Twenty-six patients of this open-l…
q-bio.NC2025
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
L Cif, D Demailly, JP Lin +112
Heterozygous mutations in KMT2B are associated with an early-onset, progressive, and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor feat…