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…Global Genetic Ataxia Resource: An MDSGene Online Platform
Objective: To create a comprehensive global resource integrating epidemiological, phenotypic, and diagnostic data on genetic ataxias through an online platform. Background: Genetic ataxias exhibit variable…Widespread White Matter Changes in Manifest Huntington’s Disease
Objective: To characterize white matter changes in Huntington’s Disease (HD). Background: HD is a genetic neurodegenerative disorder characterized by motor, cognitive, and psychiatric symptoms. Diffusion Tensor…Spatiotemporal Gait Norms in Essential Tremor
Objective: The purpose of this study is to establish gait references in a large cohort of essential tremor (ET) patients. We analyzed the spatial temporal…Seven-year follow-up of clinical and neurophysiological features in essential tremor
Objective: To prospectively follow-up a sample of Essential Tremor (ET) patients to identify trends in the progression of motor and cognitive symptoms. Background: ET is…Lower Eyelids Botulinum Injections: Improving Dry Eye and Prolonging Therapeutic Effect
Objective: This study explores botulinum toxin (BT) injection techniques to optimize outcomes for patients with facial disorders, focusing on improving dry eye. Background: Dry eye…Opsoclonus-Myoclonus Ataxia plus Demyelinating Neuropathy Syndrome in an uncommon type of Prostate Cancer, a Case Report
Objective: To present a unique case of adult-onset opsoclonus-myoclonus ataxia plus demyelinating neuropathy syndrome in a patient with large cell neuroendocrine prostate carcinoma with isolated…Hemichorea as an Atypical Manifestation of Hypoglycemia: A Rare Case Report
Objective: To present a rare case of hemichorea as a neurological manifestation of hypoglycemia, highlighting the importance of considering metabolic factors in patients with movement…Spastic Paraplegia as a Novel Phenotype in Late Adulthood Onset POLG Disease: A Pathophysiological Continuum?
Objective: We report a case of late adult onset gradually progressive spastic paraplegia secondary to pathogenic variants in the POLG gene. Background: Many pathogenic mutations…Uncommon Presentation of Moyamoya Disease (MMD): A Case of Negative Myoclonus
Objective: We describe a case of MMD in which the patient presented with negative myoclonus. Background: Moyamoya disease (MMD) is a progressive cerebrovascular disorder characterized…
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