Heterozygous ATP7B variants in patients with parkinsonism
Objective: To describe a retrospective case series of thirteen cases carriers of heterozygous variants of the ATP7B gene manifesting with specific cases of parkinsonism. Background:…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…Microstructural Changes in the Striatum Correlate With Clinical Symptoms in Wilson Disease
Objective: To evaluate microstructural changes in the dorsal striatum and their correlation with clinical symptoms in Wilson disease (WD). Background: Advanced diffusion models, including Neurite…Study Of Epidemiological and Clinical Profile of Neurologic Wilson’s Disease from a Tertiary Care Hospital In India
Objective: To study the epidemiological profile of neurologic Wilson’s disease (WD) and to study clinical, biochemical and radiological features of neurologic WD Background: Wilson’s disease…Correlation of 7T MRI Susceptibility and Retinal Nerve Fiber Thickness with Neurological Severity in Wilson’s Disease
Objective: To evaluate susceptibility changes in the lentiform nucleus using 7T MRI and peripapillary retinal nerve fiber layer (p-RNFL) thickness using Optical Coherence Tomography (OCT)…Unmasking Wilson Disease: Subacute Neurological Complications During the COVID-19 Pandemic
Objective: We present a case of Wilson's Disease (WD) triggered by a COVID-19 infection, characterized by subacute fluctuated generalized dystonia, chorea/ballism, spasmodic dysphonia and excessive…A Case of Concurrent Wilson Disease and Parkinson Disease
Objective: to present a case of concurrent Wilson disease and Parkinson disease. Background: Wilson disease (WD) is a rare autosomal recessive disease that typically manifests…Wilson Disease Presenting as Rapidly Progressive Dementia
Objective: To describe an atypical presentation of Wilson Disease. Background: Wilson Disease is a rare autosomal recessive disorder that causes copper accumulation in the brain…A Curious Case of Copper de-Compensation
Objective: To describe the investigation and management of a patient with Wilson’s disease who experienced late-onset neurological deterioration despite continued treatment. Background: Wilson’s disease is…Increased Brain-Age Gap Estimate (BrainAGE) in Neurological Wilson Disease
Objective: To assess grey matter (GM) volume derived brain-aging in Wilson Disease (WD) using a previously proposed machine learning (ML) algorithm. Background: GM atrophy is…
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