PPP2R5D Variants in Patients Diagnosed With Parkinson’s Disease. A Large‑Scale Multi‑Cohort Analysis
Objective: To identify individuals with rare pathogenic and potentially pathogenic variants of unknown significance (VUS) in PPP2R5D within large Parkinson’s disease (PD) cohorts, to characterize…Evaluation of Semantic Space Search Metrics in Phonemic Fluency: Comparison among Basal Ganglia Disorders and Healthy Controls
Objective: Phonemic verbal fluency reflects executive function and involves both within-category lexical retrieval (cluster size) and switching between categories. We compared semantic search behavior in…Adult-Onset Stereotypies and Cortical Myoclonus: An Unusual Presentation of Cerebral Amyloid Angiopathy
Objective: To report a case of secondary adult-onset stereotypies with cortical myoclonus associated with an underlying neurological disorder. Background: Stereotypies are repetitive, patterned, rhythmic, non–goal-directed…Neuroprotective Effects of Curcumin on Hippocampal-PPN Circuitry in a Rotenone-Induced Rat Model of Parkinson’s Disease
Objective: This study investigated the neuroprotective effects of curcumin on the hippocampal-pedunculopontine nucleus (PPN) axis in a rotenone-induced rat model of PD. Background: Parkinson’s disease…Family Caregivers and eHealth in Parkinson’s Disease: Insights From a Qualitative Study
Objective: To explore family caregivers’ views on the role of eHealth in formal care and in supporting physical activity and exercise for people with Parkinson’s…Clinical and Autonomic Correlates of Chronic Sialorrhea in Parkinson’s Disease: A Questionnaire-Based Study with Cluster Analysis of Autonomic and Dysphagia Burden
Objective: To examine factors associated with drooling in patients with Parkinson’s disease (PD), patient awareness and perceptions of botulinum toxin therapy, and the relative contributions…Therapeutic Efficacy of a Next-Generation 16-Contact Directional Deep Brain Stimulation System in Parkinson’s Disease
Objective: We assessed the clinical efficacy and safety of a novel deep brain stimulation (DBS) system equipped with 16-contact directional leads in improving motor symptoms…Video-Based Gait Analysis for Objective Assessment of Motor Severity and Surgical Outcome in Parkinson’s Disease: A Scalable Alternative to Subjective Rating
Objective: To evaluate the accuracy of a gait-focused video analysis model in predicting clinical scores and post-surgical improvement in Parkinson’s disease (PD) Background: The MDS-UPDRS…Genetically proven Juvenile-Onset Niemann–Pick Disease Type C Presenting with Dystonia- Ataxia syndrome.
Objective: We present a case Juvenile-Onset Niemann–Pick Disease Type C (NPC) who Presented to us with progressive Dystonia- Ataxia syndrome. Background: Niemann–Pick disease type C…Progressive Lifelong Chorea with Spastic Paraparese and Cerebellar Ataxia Associated with Two Heterozygous Variants in the SYNE1 Gene: A Case Report
Objective: To report a case harboring two different heterozygousSYNE1 variants whose combined effect is suspected tounderlie a complex neurogenetic phenotype Background: SYNE1 encodes nesprin-1, one…
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