Wilson’s Disease with Hereditary Hemorrhagic Telangiectasia and Pituitary Microadenoma: A Case Report
Objective: To report a case of a young female patient with Wilson's disease, hereditary hemorrhagic telangiectasia (HHT), and pituitary microadenoma, and to enhance the understanding…Phenotypic Spectrum In Children And Adolescents With Glucose Transporter 1 Deficiency A Multicentric Retrospective Study
Objective: To describe the spectrum of phenotypes in children and adolescents with biochemically and/or genetically proven Glucose Transporter 1 (GLUT1) deficiency. Background: The phenotypes in…Association between Freezing of Gait and Probable Sarcopenia in Patients with Parkinson’s Disease
Objective: This study aimed to determine whether FOG is related to the risk of probable sarcopenia in PD patients. Sarcopenia is probable when low muscle…Developing a Framework for Huntington’s Disease Care Partner Training and Support – HD Care Partner Bootcamp Series
Objective: In this protocol we present a novel collaborative framework for a Huntington’s Disease (HD) Care Partner (CP) bootcamp series designed to train and support…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…
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