PLA2G6-related dystonia-parkinsonism in identical twins manifesting at an advanced age: a case report and review of the literature.
Objective: To report a rare presentation of a rare disease and illustrate the range of phenotype seen in PLA2G6-associated dystonia-parkinsonism (PLADP). Background: PLA2G6 encodes a…Deep Brain Stimulation in Generalized Dystonia Caused by PRKRA Mutation
Objective: Dystonia is a hyperkinetic movement disorder with a complex pathophysiology. The medical treatment includes pharmacological treatment, including botulinum toxin (BoNT), which is considered the…Internal globus pallidus deep brain stimulation in ACTB-related deafness-dystonia
Objective: To describe the response to deep brain stimulation (DBS) in a patient with ACTB-related deafness-dystonia syndrome with three years of follow-up and to review…Two cases of severe generalized dystonia in IRF2BPL and response to treatment
Objective: We describe two patients who presented with progressive, generalized dystonia and associated neurodevelopmental regression in early childhood found to have pathogenic variants in IRF2BPL.…Genetic landscape of dystonia in Asian Indian patients
Objective: To identify potentially pathogenic genomic variations associated with dystonia phenotypes in Asian Indian patients with dystonia. Background: The Asian Indian population is underrepresented in…Mutation screening and burden analysis of AOPEP in dystonia in a Chinese population
Objective: To explore the genetic involvement of AOPEPin dystonia in East Asian population. Background: Recently, AOPEPwas identified to be a novel likely causative gene of autosomal recessive dystonia.…Bilateral GPi DBS for the treatment of a general dystonia with EIF2AK2 mutant: Report of globus pallidus local field potentials and the therapeutic outcome
Objective: We reported a generalized dystonia patient with eukaryotic translation initiation factor 2 alpha kinase 2 (EIF2AK2) gene mutation who underwent bilateral Globus pallidus interna…Mutation in TUBB4a causing from dystonia to spastic quadriparesis across one family
Objective: Here we want to present one family in which there is diverse phenotype with probable pathogenic novel mutation in TUBB4A gene. Background: Mutation in…Widening the phenotype of FXTAS in females: Spasmodic dysphonia in two patients
Objective: We present the cases of two female FXTAS patients who both developed spasmodic dysphonia (SD), also known as laryngeal dystonia. Background: Fragile-X-associated tremor/ataxia syndrome…Scoring Algorithm-Based Genomic Testing in Dystonia: real-life data from the outpatient clinic
Objective: To test a scoring algorithm to guide genetic testing in dystonia. Background: Recent evidence from a large multicentric study allowed to establish a scoring…
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