TeleHD: Feasibility, Validity and Value of Telemedicine in Huntington Disease
Objective: To demonstrate the feasibility of conducting telemedicine visits, establish the validity and reliability of tele-administered motor/non-motor assessments, and determine the satisfaction of virtual visits…Free-living digital mobility outcomes in Parkinson’s disease patients with and without freezing of gait: what can they tell us?
Objective: I) To compare digital mobility outcomes (DMOs) of free-living gait quality and quantity obtained over one week between people with Parkinson’s disease (PwPD) who…Speech Analysis and Machine Learning can Aid in Identifying Different Neurological Disorders
Objective: To develop a digital speech assessment tool to aid in identifying different neurological disorders. Background: Speech impairment is a prevalent symptom in neurological disorders,…White Matter Tractography in Spinocerebellar Ataxia type 1 and 2 in comparison with Healthy Controls
Objective: To assess and quantify microstructural white matter atrophy in brain of spinocerebellar ataxia (SCA) types SCA1 and SCA2 patients in comparison with healthy subjects.…Association of expanded CAG repeat with autonomic function in Spinocerebellar Ataxia Type-2 (SCA-2)
Objective: To investigate association of expanded CAG repeat with autonomic function in SCA2 patients. Background: SCA2 is a progressive neurodegenerative disorder characterized by gait, limb…Progressive Cerebellar Ataxia as the Predominant Symptomatology of SGP-7 Compound Heterozygote Pathogenic Variants related HSP-7
Objective: Analyze a clinical case detailing the presentation of a patient primarily exhibiting gradual onset balance disturbances, subsequently diagnosed with HSP-7, elucidating key diagnostic challenges…Seminoma resulting in rapidly progressive cerebellar syndrome with associated dual positive kelch-like protein 11 (KLHL11) IgG and leucine zipper 4 (LUZP4)–immunoglobulin G (IgG) antibodies.
Objective: We describe a case of retroperitoneal seminoma resulting in paraneoplastic progressive cerebellar syndrome secondary to KLHL11 and LUZP4 antibodies. Background: Testicular cancer covers a…Ektacytometry in Neuroacanthocytosis
Objective: Here we report two patients with genetically confirmed neuroacanthocytosis (NA) and expand the role of ektacytometry for the assessment of acanthocytes. Background: The main…Reversible Hemichorea-Hemiballismus-Hemifacial Spasm in Diabetic Striatopathy
Objective: Nonketotic hyperglycemia (NKH), also known as Diabetic Striatopathy (DS) can present with different involuntary movements in diabetic patients. Hemichorea-hemiballismus (HC-HB) is the most common…Bilateral Deep Brain Stimulation in Subthalamic Nucleus versus Globus Pallidus Internus for refractory dystonia
Objective: Evaluate the effects of bilateral Deep Brain Stimulation (DBS) in Subthalamic Nucleus (STN) versus Globus Pallidus Internus (GPi) for patients with refractory dystonia. Background:…
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