Skin Tau Quantification as a Novel Biomarker in Huntington’s Disease
Objective: To explore skin tau quantification as a potential biomarker for disease severity, motor and cognitive function in Huntington's disease Background: Beyond the aggregation of…Predicting Clinical Status of Patients with Huntington’s Disease from Raw Speech Samples, a Lightweight Machine Learning Approach
Objective: We propose a machine learning-based method for inferring the clinical status of patients with Huntington’s Disease (HD) from raw voice recordings. Background: Assessing HD…Closed-Loop Spinal Cord Stimulation: A Case Report on a Novel Therapeutic Approach for Post-Hypoxic Myoclonus
Objective: To present a case-study on use of closed-loop spinal cord stimulation (CL-SCS) for treating post-hypoxic myoclonus. Background: Post-hypoxic myoclonus is severely disabling and can…Handwriting Features in Patients with Isolated REM Sleep Behaviour Disorder
Objective: To assess iRBD patients’ handwriting features and develop a rating scale capable of detecting early hallmarks of disease. Background: Handwriting changes, such as micrographia,…Spastic paraparesis and paroxysmal dystonia associated with a novel mutation in ATP1A3 in a spanish family
Objective: To describe a new phenotype related to a novel mutation in ATP1A3 in two women from the same family Background: Mutations in ATP1A3 have…Social phobia, anxiety and depression in patients with essential tremor
Objective: ET is the most diagnosed movement disorder, the frequency of which increases as a person ages. Background: To examine the incidence of social phobia,…Age of Onset and Choice of First-line Therapy in Essential Tremor Patients
Objective: The purpose of this study is to examine the effect of age of onset on the selection of initial medication for symptomatic management of…MRgFUS thalamotomy for essential tremor: Lesion location and clinical outcomes
Objective: To examine the clinical outcomes and their relationship with patients’ baseline demographic and clinical features and lesion characteristics at 6-month follow-up in ET patients.…Expanding the Neurogenetic Spectrum: A Case of DEPDC5 Mutation Presenting with Unilateral Tremor and Cognitive Decline
Objective: Here, we report a novel presentation of DEPDC5-related disorders in a 41-year-old patient with unilateral tremors and delayed cognitive decline. Background: DEPDC5 mutations are…Intermediate Expansion of MARCHF6 causes FAME3 without Epilepsy
Objective: To describe the first case of Familial adult myoclonic epilepsy 3 (FAME3) due to intermediate intronic expansion of MARCHF6. Background: FAME is an autosomal…
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