Dystonia as a Rare Manifestation of POLG-Related Disease: A Case Report
Objective: We present a case of a patient with a history of recurrent stroke-like lesions, epilepsy, and progressive generalized dystonia with dystonic tremor secondary to…The application of Deep Brain Stimulation in KMT2B dystonia: Two cases with different targets
Objective: To report the clinical outcomes of two patients with KMT2B medically refractory dystonia who underwent bilateral deep brain stimulation (DBS) with different targets: subthalamic…Expanding the Phenotypic Spectrum of CACNA1A Variants: A Single-Center Experience
Objective: This study aims to describe pediatric patients with CACNA1A variants, detailing the clinical phenotype, with emphasis on the movement phenomenologies, genetic variants, electrophysiological and…From syndrome to genetics: Genetic Etiologies of Dystonia with Anarthria/Aphonia
Objective: This study provides a comprehensive list of genetic causes in a large cohort of 53 pediatric and adult patients with dystonia and anarthria or…Screening for Genetic Forms in Non-focal Dystonia Patients in Russian Population.
Objective: To assess clinical spectrum of genetic forms of dystonia (GD) in a cohort of Russian patients with non-focal dystonia. Background: Dystonia is the third…GNAI1-Associated Childhood-Onset Hyperkinetic Movement Disorder: A Case Report
Objective: To describe the clinical presentation, diagnostic evaluation, and genetic findings in a 7-year-old male with a hyperkinetic movement disorder associated with a novel GNAI1…Clinical and Genetic Profile of DYT-THAP1 in Asian Indian Patients
Objective: To describe the clinical and genetic profile of DYT-THAP1 in Asian Indian patients. Background: Variants in the thanatos-associated protein 1 (THAP1) gene are recognized…The Phenotypic Spectrum of ATP1A3-Related Disorders: A Brazilian Cohort
Objective: To describe a case series of patients with ATP1A3 variants, analyzing their phenotypic presentation and genetic characteristics in Brazil. Background: ATP1A3-related disorders exhibit a complex…Phenotypic Overlap of CACNA1A-Related Disorders
Objective: To highlight the complex genotype-phenotype associations of CACNA1A-related disorders and demonstrate that clinical presentation may not always align with current genetic classifications. Background: Pathogenic…Diagnosis of GLUT1 Deficiency Syndrome in Adulthood
Objective: To present a case of GLUT1 deficiency syndrome diagnosed in adulthood emphasizing the need to keep this diagnosis in differential for adult patients with…
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