Autosomal dominant ataxias expression profiles based on distinct clinical phenotypes.
Objective: We examined whether distinct phenotypes in genetic ataxias have any implications for disease pathophysiology. Background: Inherited ataxias affect at least 150,000 people in the…Clinical case of cerebellar ataxia associated with temporal bone tumor
Objective: To describe a clinical case of tumor-induced cerebellar ataxia in an elderly patient. Background: Ataxia can result from various etiologies, including neurodegenerative diseases, stroke,…Compound Heterozygous SCA17 in a Vietnamese Patient
Objective: We seek to report the first instance of Spinocerebellar Ataxia Type 17 (SCA17) in a Vietnamese patient with a compound heterozygous mutation in the…Clinical and Genetic profile of patients presenting with Adult-onset cerebellar ataxia of probable genetic aetiology
Objective: To study the genetic profile of patients presenting with adult-onset cerebellar ataxia of probable genetic aetiology using whole exome and mitochondrial sequencing (WEMS) Background:…Efficacy and Safety of Deutetrabenazine in Huntington’s Disease: a Systematic Review
Objective: To evaluate efficacy and safety of deutetrabenazine (DTB) in Huntington's Disease (HD) in order to guide evidence-based clinical decisions. Background: HD is a genetic…Vibrotactile Stimulation with Cueing as Promising Therapeutic Approach in Orthostatic Tremor.
Objective: To assess the effect of 9-week vibrotactile stimulation with cueing on static and dynamic balance, anxiety and fatigue in people with Primary Orthostatic Tremor…Clinical and Electrophysiological Features of Hypertrophic Olivary Degeneration
Objective: We performed the electrophysiological analysis of patients with MRI-confirmed hypertrophic olivary degeneration by surface and needle EMG. Background: Hypertrophic olivary degeneration is a multisynaptic…Correlation of 7T MRI Susceptibility and Retinal Nerve Fiber Thickness with Neurological Severity in Wilson’s Disease
Objective: To evaluate susceptibility changes in the lentiform nucleus using 7T MRI and peripapillary retinal nerve fiber layer (p-RNFL) thickness using Optical Coherence Tomography (OCT)…Role of the other babinski sign in hemifacial spasm
Objective: To investigate the role of the “Other Babinski Sign” in differentiating HFS from blepharospasm and to determine its prevalence in HFS patients. Background: The…A Dance with Sydenham, it’s Never Too Late to Tango
Objective: Sydenham’s Chorea (SC) is a predominantly female childhood disorder characterized by irregular, fluid-like, involuntary movements. Here we present a case of isolated Sydenham’s chorea…
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