Christopher J. Klein
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View article: 611. DNMT1 COMPLEX DISORDERS: NEURODEGENERATION FROM A SPECIFIC DNA METHYLATION DEFECT. THE MUTATION KNOCK IN MOUSE MODEL PRESENT SIMILAR TO CLINICAL FORM OF HSAN1E
611. DNMT1 COMPLEX DISORDERS: NEURODEGENERATION FROM A SPECIFIC DNA METHYLATION DEFECT. THE MUTATION KNOCK IN MOUSE MODEL PRESENT SIMILAR TO CLINICAL FORM OF HSAN1E Open
Background DNA methyltransferase 1 (DNMT1) is essential for DNA methylation and chromatin stability. DNMT1 on chromosome 19p 13.2 mutations in this gene lead to a dominantly inherited neurodegenerative phenotype with a triad of symptoms sh…
View article: Twenty Years Later, “<scp>AL</scp> Amyloidoma” Not “Non‐Mutated <scp>ApoA1</scp>”: Enhanced Diagnosis Through Mass Spectrometry Advancement
Twenty Years Later, “<span>AL</span> Amyloidoma” Not “Non‐Mutated <span>ApoA1</span>”: Enhanced Diagnosis Through Mass Spectrometry Advancement Open
View article: Anesthesia Experience for Guillain-Barre Syndrome in Endoscopy Procedures: A Retrospective Case Series
Anesthesia Experience for Guillain-Barre Syndrome in Endoscopy Procedures: A Retrospective Case Series Open
Acute onset GBS cases frequently present with bulbar dysfunction, respiratory distress, and muscle weakness. Patients within 6 months of acute onset should delay elective endoscopic procedures, whereas urgent/emergent ones should be schedu…
View article: <scp>CIDP</scp> Treatment Outcomes Correlation With First Nerve Conduction Changes: Ascertainment of Initial and Long‐Term Responders
<span>CIDP</span> Treatment Outcomes Correlation With First Nerve Conduction Changes: Ascertainment of Initial and Long‐Term Responders Open
Background and Aims Nerve conduction studies (NCS) are integral to diagnosing chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), but their role in predicting treatment outcomes remains underexplored. This study evaluates NCS…
View article: Upper motor neuron-predominant motor neuron disease: a novel immunotherapy-responsive association of GAD65 autoimmunity
Upper motor neuron-predominant motor neuron disease: a novel immunotherapy-responsive association of GAD65 autoimmunity Open
View article: Plasma synapse proteins discriminate between AD, DLB, and FTD dementias and closely predict memory dysfunction
Plasma synapse proteins discriminate between AD, DLB, and FTD dementias and closely predict memory dysfunction Open
Background Robust biomarkers are urgently needed to detect, diagnose, and predict memory decline in the three most common neurodegenerative dementia syndromes, Alzheimer disease (AD), dementia with Lewy bodies (DLB), and frontotemporal dem…
View article: Exploring the Utility of Carpal Tunnel Biopsy in Amyloidosis: A Current Perspective
Exploring the Utility of Carpal Tunnel Biopsy in Amyloidosis: A Current Perspective Open
Recent literature has emphasized the role of hand surgeons in screening patients with carpal tunnel syndrome (CTS) for amyloidosis by performing a carpal tunnel synovial biopsy during open carpal tunnel release (CTR). This has led to misco…
View article: Paradoxical thinning of the diaphragm on ultrasound is a risk factor for requiring non‐invasive ventilation in patients with neuromuscular diaphragmatic dysfunction
Paradoxical thinning of the diaphragm on ultrasound is a risk factor for requiring non‐invasive ventilation in patients with neuromuscular diaphragmatic dysfunction Open
Introduction/Aims Point‐of‐care ultrasound of the diaphragm is highly sensitive and specific in the detection of neuromuscular diaphragmatic dysfunction. In some patients with neuromuscular diaphragmatic dysfunction, paradoxical thinning o…
View article: Protected group bias and stereotypes in Large Language Models
Protected group bias and stereotypes in Large Language Models Open
As modern Large Language Models (LLMs) shatter many state-of-the-art benchmarks in a variety of domains, this paper investigates their behavior in the domains of ethics and fairness, focusing on protected group bias. We conduct a two-part …
View article: Peripheral nervous system manifestations of MOG antibody associated disease
Peripheral nervous system manifestations of MOG antibody associated disease Open
Recent studies have reported the involvement of peripheral nervous system (PNS) in association with MOG‐IgG, including isolated neuropathies. In this retrospective study we characterized the PNS involvement in MOG antibody associated disea…
View article: B-092 Limited Clinical Utility of N-type Antibody Testing in Lambert-Eaton Myasthenic Syndrome
B-092 Limited Clinical Utility of N-type Antibody Testing in Lambert-Eaton Myasthenic Syndrome Open
Background Lambert-Eaton myasthenic syndrome (LEMS) is caused by IgG-mediated disruption of certain voltage-gated Ca2+-channel (VGCC) functions and diminished peripheral motor nerve-stimulated release of acetylcholine by presynaptic termin…
View article: Clinical trials in Charcot-Marie-Tooth disorders: a retrospective and preclinical assessment
Clinical trials in Charcot-Marie-Tooth disorders: a retrospective and preclinical assessment Open
Objective This study aimed to evaluate the progression of clinical and preclinical trials in Charcot-Marie-Tooth (CMT) disorders. Background CMT has historically been managed symptomatically and with genetic counseling. The evolution of mo…
View article: Nerve Conduction Differences in a Large Clinical Population: The Role of Age and Sex
Nerve Conduction Differences in a Large Clinical Population: The Role of Age and Sex Open
Background: The normal limits of nerve conduction studies are commonly determined by testing healthy subjects. However, in comprehensive real-life nerve conduction electrodiagnostic (EDX) evaluations, multiple nerves are tested, including …
View article: Progressive Orthopnea and Bendopnea Due to Diaphragmatic Paralysis Associated With IgLON5 Autoimmunity
Progressive Orthopnea and Bendopnea Due to Diaphragmatic Paralysis Associated With IgLON5 Autoimmunity Open
View article: Supplementary Methods, Tables 1 - 2 from Neural Autoantibody Clusters Aid Diagnosis of Cancer
Supplementary Methods, Tables 1 - 2 from Neural Autoantibody Clusters Aid Diagnosis of Cancer Open
PDF file - 118KB, Supplementary Table 1. number of patients for each observed clusters with 4 autoantibodies. Supplementary Table 2. Number of patients for each observed clusters with 5 autoantibodies.
View article: Data from Neural Autoantibody Clusters Aid Diagnosis of Cancer
Data from Neural Autoantibody Clusters Aid Diagnosis of Cancer Open
Purpose: Clustering of neural autoantibodies in patients with paraneoplastic neurologic disorders may predict tumor type. A mathematical analysis of neural autoantibody clusters was performed in 78,889 patients undergoing evaluation…
View article: Data from Neural Autoantibody Clusters Aid Diagnosis of Cancer
Data from Neural Autoantibody Clusters Aid Diagnosis of Cancer Open
Purpose: Clustering of neural autoantibodies in patients with paraneoplastic neurologic disorders may predict tumor type. A mathematical analysis of neural autoantibody clusters was performed in 78,889 patients undergoing evaluation…
View article: Supplementary Methods, Tables 1 - 2 from Neural Autoantibody Clusters Aid Diagnosis of Cancer
Supplementary Methods, Tables 1 - 2 from Neural Autoantibody Clusters Aid Diagnosis of Cancer Open
PDF file - 118KB, Supplementary Table 1. number of patients for each observed clusters with 4 autoantibodies. Supplementary Table 2. Number of patients for each observed clusters with 5 autoantibodies.
View article: Feedback Effect in User Interaction with Intelligent Assistants: Delayed Engagement, Adaption and Drop-out
Feedback Effect in User Interaction with Intelligent Assistants: Delayed Engagement, Adaption and Drop-out Open
With the growing popularity of intelligent assistants (IAs), evaluating IA quality becomes an increasingly active field of research. This paper identifies and quantifies the feedback effect, a novel component in IA-user interactions: how t…
View article: Characterization of Clinical and Paraclinical Features Associated With TS-HDS Autoantibody Seropositivity
Characterization of Clinical and Paraclinical Features Associated With TS-HDS Autoantibody Seropositivity Open
Objective To evaluate neuropathy phenotypes and clinical outcomes associated with trisulfated heparin disaccharide (TS-HDS) autoantibodies. Background TS-HDS autoantibody has been reported as a biomarker of immune-mediated neuropathy. Howe…
View article: Hybrid tumors with perineurioma components: a systematic review of the literature and illustrative case
Hybrid tumors with perineurioma components: a systematic review of the literature and illustrative case Open
View article: Electrocardiogram-Artificial Intelligence and Immune-Mediated Necrotizing Myopathy: Predicting Left Ventricular Dysfunction and Clinical Outcomes
Electrocardiogram-Artificial Intelligence and Immune-Mediated Necrotizing Myopathy: Predicting Left Ventricular Dysfunction and Clinical Outcomes Open
In IMNM, an AI-ECG algorithm assists detection of LVD, enhancing the decision to advance to echocardiogram testing, while also informing on mortality risk, which is important in the decision of immunotherapy escalation and monitoring.
View article: 64-Year-Old Woman With Aphasia and Troponin Elevation
64-Year-Old Woman With Aphasia and Troponin Elevation Open
View article: Letter to editor: Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum
Letter to editor: Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum Open
View article: Electrodiagnostic Characteristics Suggestive of Muscle-Specific Kinase Myasthenia Gravis
Electrodiagnostic Characteristics Suggestive of Muscle-Specific Kinase Myasthenia Gravis Open
Patients with MuSK + MG may have a recognizable EDX profile from AchR + MG that includes (1) myotonic discharges, (2) greater occurrence of myopathic appearing MUPs in clinically mild disease, and (3) symptoms leading to earlier testing.
View article: Mutant C. elegans mitofusin leads to selective removal of mtDNA heteroplasmic deletions across generations to maintain fitness
Mutant C. elegans mitofusin leads to selective removal of mtDNA heteroplasmic deletions across generations to maintain fitness Open
View article: Incidence and prevalence of immune‐mediated necrotizing myopathy in adults in Olmsted County, Minnesota
Incidence and prevalence of immune‐mediated necrotizing myopathy in adults in Olmsted County, Minnesota Open
Introduction/Aims Immune‐mediated necrotizing myopathy (IMNM) is considered a rare subtype of the immune‐mediated myopathies, but its incidence and prevalence are unknown. In this study we aimed to determine the incidence and prevalence of…
View article: Additional file 2 of Mutant C. elegans mitofusin leads to selective removal of mtDNA heteroplasmic deletions across generations to maintain fitness
Additional file 2 of Mutant C. elegans mitofusin leads to selective removal of mtDNA heteroplasmic deletions across generations to maintain fitness Open
Additional file 2. Individual data values. Spreadsheets of numerical data for Figures 1, 2, 3, 4 and 5 and Supplementary Figures S1-S4.
View article: Autoimmune/Paraneoplastic Encephalitis Antibody Biomarkers: Frequency, Age, and Sex Associations
Autoimmune/Paraneoplastic Encephalitis Antibody Biomarkers: Frequency, Age, and Sex Associations Open
The most frequent AE-Abs detected were NMDA-R-IgG, GAD65-IgG, LGI1-IgG, and MOG-IgG1. Age and sex associations may suggest paraneoplastic, or aging influences on neurologic autoimmunity.
View article: LGI1 antibody encephalitis: acute treatment comparisons and outcome
LGI1 antibody encephalitis: acute treatment comparisons and outcome Open
Objective To compare acute treatment responses and long-term outcome in leucine-rich glioma-inactivated 1 (LGI1) antibody encephalitis. Methods Retrospective case series of 118 patients with LGI1 antibody encephalitis evaluated at Mayo Cli…