- We report a Dystonia-Deafness syndrome patient treated by pallidal Deep Brain Stimulation with significant long-term benefits. Our study expands and confirms the complex phenotypic spectrum of ACTB gene-related disorders and supports the effectiveness of pallidal stimulation on motor outcomes and quality of life in dystonia due to ACTB p.Arg183Trp heterozygosity.
- Recently, 69 patients with heterozygous Transcription Factor 20 (TCF20) gene variants were described as showing predominant developmental delay with variable intellectual and behavioral abnormalities (DDVIBA) (MIM# 618430 ) [1,2] and less frequently, poorly delineated movement disorders.
- ATP1A3 gene mutations are associated with alternating hemiplegia of childhood (AHC), rapid-onset dystonia-parkinsonism (RPD) and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural deafness) . So far, nearly 60 distinct ATP1A3 mutations have been described in association with a wide spectrum of neurological and psychiatric symptoms. These may go beyond the well-defined boundaries of RDP or AHC, thus generating overlapping phenotypes [2,3]. In this study, we describe two sporadic patients harboring novel ATP1A3 mutations and showing overlapping or atypical clinical features in the spectrum of RDP and AHC.
- Mutations in GNAL have been associated with adult-onset cranio-cervical dystonia, but a limited number of cases have been reported so far and the clinical spectrum associated with this gene still needs to be fully characterized.