A Rare Case of Anti-Hu Opsoclonus-Myoclonus Syndrome after Immune Checkpoint Inhibitor Immunotherapy in a Patient with Small Cell Lung Cancer in Remission
Objective: To describe a case of anti-Hu/ANNA-1 Opsoclonus-Myoclonus syndrome (OMS) in a patient with small cell lung cancer (SCLC) after treatment with an immune checkpoint…The Diagnostic Dilemma in ATP7B Heterozygosity
Objective: We aim to address the uncertainties surrounding the genotype-phenotype correlation in ATP7B pathogenic mutations, particularly with a focus on heterozygous carriers, challenging the traditionally…Biallelic Variants in ACER3 Encoding Alkaline Ceramidase 3 Cause Infantile- and Early-Childhood-Onset Neurodegeneration with Progressive Leukodystrophy
Objective: To delineate the clinical phenotype and molecular spectrum of alkaline ceramidase 3 -related disease (ACER3-RD) by characterizing 60 patients from 55 independent families. Background:…Atypical Onset and Presentation of Rare DYT30-VPS16 Dystonia
Objective: To provide a description of a young patient with atypical onset and presentation of rare DYT30-VPS16 dystonia. Background: To date, 44 patients from 31…Acute onset of left laterocollis with jerky dystonic tremor as a presentation of uncontrolled hyperglycemia
Objective: To study the clinical course, imaging, diagnosis and management of a case of acute onset of left laterocollis with jerky dystonic tremor with suspected…Excitatory/inhibitory Balance Differences Suggests Distinct Pathophysiology Between Blepharospasm and Cervical Dystonia
Objective: To determine if excitatory/inhibitory balance (E/I) within the sensorimotor network is linked to motor symptoms in two distinct subtypes of isolated focal dystonia. Background:…Status Dystonicus is a Distinct State Characterized by Pallidal Beta-band Activity
Objective: To identify distinct pallidal local field potential (LFP) signatures characterizing status dystonicus (SD) from non-SD dystonia. Background: SD is a poorly understood neurological emergency…Precision Management of Oromandibular Dystonia (OMD): The Role of Neurological examination, Electromyographic (EMG) Guidance, and Odontological evaluation (OE) – A descriptive study with a Multidisciplinary Approach for Botulinum Toxin A (BoNT/A) Treatment
Objective: To demonstrate the advantages of OE, when facing challenges with identifying patterns of OMD for employment of EMG for guided BoNT/A precision management. Background:…Educational Innovation of Cerebellum and Ataxia Curriculum for Neurology Residents
Objective: New education method with resident as educator supervised by movement specialists to improve the knowledge and clinical skills of neurology residents in diagnosing and…Health care inequalities in detection, diagnosis, and treatment of Parkinson’s disease among Hispanic population in Texas.
Objective: We aim to compare self-described Hispanic versus non-Hispanic patients in UT Health movement disorders clinic with Parkinson’s disease (PD). Background: San Antonio has a…
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