Identification of Cerebrotendinous Xanthomatosis in Patients with Neurodegenerative Disorders from the Cincinnati Cohort Biomarker Program
Objective: To develop an algorithm for identifying patients with cerebrotendinous xanthomatosis (CTX) in a cohort of individuals with neurodegenerative disorders. Background: CTX is a rare…Schindler Disease (a Rare Autosomal Recessive Lysosomal Storage Disorder)
Objective: This case report discusses the diagnostic difficulties and treatment strategies for Schindler disease type III and provides insightful information on its clinical manifestations Background:…A Case of CANVAS Misdiagnosed as Subacute Labyrinthitis and Meniere’s Disease
Objective: To report a case of CANVAS initially misdiagnosed as subacute labyrinthitis and Meniere’s disease, highlighting the diagnostic challenges and the importance of recognizing this…Painful Legs Moving Toes Syndrome in Rural Western India: Etiological Spectrum and Outcomes in 24 Cases
Objective: To characterize clinical profiles, etiological patterns, and therapeutic outcomes of Painful Legs Moving Toes syndrome [PLMTS] patients in a rural Indian neurology practice. Background:…Relationship Between Motor Subtypes and Central and Peripheral Neurodegeneration in Early Parkinson’s Disease: A Study Using DAT SPECT and SUDOSCAN
Objective: To investigate the relationship between Parkinson’s disease (PD) motor subtypes and neurodegeneration in both the central and peripheral nervous systems using dopamine transporter single-photon emission…Evaluation of Nociception in a Model of Parkinson’s Disease for the Study of Non-Motor Symptoms in Trpv4-/- Animals
Objective: This study aimed to investigate the role of the TRPV4 receptor in regulating the nociception in a PD model experimental for the study of…Intraepidermal Nerve Fiber Density at Baseline Associates with One-year Clinical Disease Progression in Multiple System Atrophy
Objective: In a longitudinal manner explore possible diagnostic and prognostic properties of determining intraepidermal nerve fiber density (IENFD), by means of skin punch biopsy, in…SCN9A Gene Variant in a PD Case with Refractory Dysesthesias
Objective: Describe an unusual case of severe pain syndrome associated with a predisposing genetic mutation, and review literature on causes of enhanced pain in PD.…CAPRIN1 defect: a new severe neurodegenerative disorder with childhood dementia, myoclonus-ataxia, and sensorimotor neuropathy
Objective: To present the case of a patient with a severe neurodegenerative disorder with onset in pediatric age carrying a pathogenic variant in CAPRIN1 gene…Novel ASO Targeting IGHMBP2 Cryptic Splice Variant: Efficacy and Safety
Objective: Our objective was to target a specific cryptic splice site variant affecting immunoglobulin mu‐binding protein 2 (IGHMBP2) protein levels with a novel antisense oligonucleotide…
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