Phenotypic spectrum and response to deep brain stimulation (DBS) in patients with dystonia due to variants in the KMT2B gene: A description of six Chilean cases
Objective: This study aims to characterize the phenotypic spectrum and therapeutic responses to Deep Brain Stimulation (DBS) in Chilean patients diagnosed with dystonia due to…A Case of Tardive Dystonia Treated with Bilateral Radiofrequency Ablation and Deep Brain Stimulation
Objective: This case report examines whether deep brain stimulation (DBS) can be considered a viable surgical option for patients with tardive dystonia who show insufficient…Subacute Severe Dystonia in a 19-month Old Boy. A Case of Pediatric Stiff Person Syndrome (SPS)
Objective: To report a rare case of anti-GAD associated encephalitis with pediatric Stiff Person Syndrome (SPS) highlighting the need for broad investigations and extensive treatment.…CJD presenting as unilateral upper limb dystonia- rare presentation of an uncommon disease.
Objective: This case illustrates the importance of neuroimaging in any patient who presents with focal dystonia and it may be an early manifestation of a…Spinocerebellar Ataxia 15: The first reported case of SCA15 in Asia secondary to ITPR1 gene mutation
Objective: The objective of this paper is to present the clinical, genetic findings, and inheritance pattern of a family with SCA. Background: Spinocerebellar Ataxia (SCA)…Correlation of the FXTAS Staging System and the FXTAS Rating Scale
Objective: To determine correlation between the Fragile X-associated tremor ataxia syndrome (FXTAS) staging system and the FXTAS rating scale Background: FXTAS is an X-linked, neurodegenerative…Do We Agree? Patient and Clinician Ratings of Head Tremor in Isolated Cervical Dystonia
Objective: To compare patient and clinician assessments of head tremor (HT) presence and severity in isolated cervical dystonia (CD). Background: Over 50% of people with…Quantifying ataxia in RFC1-related disorder using wearable devices
Objective: We aimed to compare standing balance and postural conditions between RFC1 patients and healthy controls. Background: RFC1-related ataxia is a progressive neurological disorder affecting…Oculomotor Abnormalities in Spinocerebellar Ataxia Type-12: A Functional Neuroimaging Study
Objective: This study aimed to investigate eye movements, specifically dysmetric saccades and cerebellar nystagmus, in Spinocerebellar Ataxia Type-12 (SCA12) using functional magnetic resonance imaging (fMRI)…Anterior Pallidal Stimulation for Severe Tourette Syndrome: Open Phase Outcomes
Objective: To present the open phase outcomes of a trial of anterior pallidal stimulation (antGPi DBS) on tic severity in patients with severe Tourette syndrome…
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