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Annals of Clinical and Translational Neurology
Scopus
ISSN 2328-9503 · Wiley · 1.829 artikel di indeks
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Artikel Jurnal
Case of a 35‐Year‐Old Man With Pain With Sneezing and Leg Weakness Causing Collapse
ABSTRACT This case details a 35‐year‐old man with no past medical history who presents with acute paraparesis and urinary retention in the setting of progressive paresthesias and weakness of his lower and upper extremities over several months. He was found to have longitudinally extensive…
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Artikel Jurnal
Amyotrophic Lateral Sclerosis Prevalence Projection in 2040: A Less Rare Disease
ABSTRACT Objective To project ALS prevalence across multiple countries through 2040, accounting for both population aging and increased survival. Methods Data from the Piemonte and Valle d'Aosta ALS register (PARALS) was used to estimate the trends in incidence and prevalence from 2005 to 2019…
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Artikel Jurnal
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been…
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Artikel Jurnal
Interleukin‐6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses
ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate…
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Artikel Jurnal
Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral…
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Artikel Jurnal
The Case of a 28‐Year‐Old Woman With Medically Refractory Focal Epilepsy
ABSTRACT We present the case of a 28‐year‐old right‐handed woman with medically refractory focal epilepsy. Her seizure semiology and electroencephalography (EEG) indicated a seizure onset zone in the right central‐parietal area. However, both MRI and PET scans were unremarkable, showing no focal…
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Artikel Jurnal
Relapsing–Remitting Multiple Sclerosis Is Associated With a Dysbiotic Oral Microbiome
ABSTRACT Objective Multiple sclerosis (MS) is a chronic autoimmune disorder characterized by inflammation, demyelination, and neurological impairment. While the gut microbiota's role in MS is extensively studied, the association between the oral microbiota and MS remains underexplored, particularly…
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Artikel Jurnal
Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review
ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care. SMA is classified into Types…
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Artikel Jurnal
Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous…
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Artikel Jurnal
Lesion Location and Functional Connections Reveal Cognitive Impairment Networks in Multiple Sclerosis
ABSTRACT Objective Cognitive impairment, fatigue, and depression are common in multiple sclerosis (MS), potentially due to disruption of regional functional connectivity caused by white matter (WM) lesions. We explored whether WM lesions functionally connected to specific brain regions contribute…
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Artikel Jurnal
Persistent Leukoencephalopathy Following H1N1 Infection Associated With a Novel MYRF Variant (p.Gly735Asp)
ABSTRACT Mutations in myelin regulatory factor (MYRF) are linked to demyelinating disorders. We report a 38‐year‐old male who developed acute symmetric leukoencephalopathy mimicking a stroke following an influenza A virus infection. While clinical symptoms markedly improved with corticosteroids…
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Artikel Jurnal
Decreased Serum 5‐HT: Clinical Correlates and Regulatory Role in NMJ of MG
ABSTRACT Objective Although 5‐Hydroxytryptamine (5‐HT) indirectly stimulates muscle contraction and participates in regulating Acetylcholine receptor (AChR) cluster homeostasis in cellular, animal, and clinical studies, evidence regarding its potential to modulate muscle contraction in myasthenia…
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Artikel Jurnal
CSF Levels of NPTX2 Are Associated With Less Brain Atrophy Over Time in Cognitively Unimpaired Individuals
ABSTRACT Introduction Neuronal pentraxin 2 (NPTX2) is a synaptic protein involved in synaptic plasticity and regulation of neuronal excitability. Lower baseline cerebrospinal fluid (CSF) NPTX2 levels have been shown to be associated with an earlier onset of mild cognitive impairment (MCI), a…
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Artikel Jurnal
NR4A1 Exerts Pro‐Tumor Role in Glioblastoma via Inducing xCT/GPX4‐Regulated Ferroptosis
ABSTRACT Purpose This study investigates NR4A1's paradoxical roles in glioblastoma (GBM) progression, focusing on its mechanistic link to ferroptosis regulation. We aimed to resolve conflicting reports of NR4A1 as both an oncogene and a tumor suppressor by defining its transcriptional control over…
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Artikel Jurnal
Increased Blood Levels of NfL, GFAP, and Placental Growth Factor After Radiotherapy to the Brain
ABSTRACT In this study, we analyzed biomarkers of neuronal, glial, and vascular injury in longitudinal paired samples of blood and cerebrospinal fluid after prophylactic cranial irradiation in patients with small cell lung cancer. Neurofilament light chain protein (NfL) and glial fibrillary acidic…
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Artikel Jurnal
Diffusion Tractography Biomarker for Epilepsy Severity in Children With Drug‐Resistant Epilepsy
ABSTRACT Objective To develop a novel deep‐learning model of clinical DWI tractography that can accurately predict the general assessment of epilepsy severity (GASE) in pediatric drug‐resistant epilepsy (DRE) and test if it can screen diverse neurocognitive impairments identified through…
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Artikel Jurnal
Systemic T Cell Receptor Profiling Reveals Adaptive Immune Activation and Potential Immune Signatures of Diagnosis and Brain Atrophy in Epilepsy
ABSTRACT Objective Epilepsy is increasingly associated with immune dysregulation and inflammation. The T cell receptor (TCR), a key mediator of adaptive immunity, shows repertoire alterations in various immune‐mediated diseases. The unique TCR sequence serves as a molecular barcode for T cells, and…
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Artikel Jurnal
Domain Specific Placebo Response in the Modified Friedreich's Ataxia Rating Scale
ABSTRACT The placebo response in clinical trials in ataxias complicates outcome interpretation and potentially obscures genuine treatment effects. We analyzed placebo group data from past trials in Friedreich Ataxia and observed notable responses in appendicular items, in contrast to minimal…
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Artikel Jurnal
Clinical Characteristics and Outcomes of Early‐Onset Versus Late‐Onset LGI1‐Antibody Encephalitis
ABSTRACT Background Leucine‐rich glioma‐inactivated 1 antibody (LGI1‐Ab) encephalitis predominantly affected older individuals, but has also been reported in younger patients. However, the demographic, clinical, and prognostic characteristics of early‐onset LGI1‐Ab encephalitis have yet to be…
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Artikel Jurnal
Plasma Proteomic Signatures for Alzheimer's Disease: Comparable Accuracy to ATN Biomarkers and Cross‐Platform Validation
ABSTRACT Background There is growing recognition of the potential of plasma proteomics for Alzheimer's Disease (AD) risk assessment and disease characterization. However, differences between proteomics platforms introduce uncertainties regarding cross‐platform applicability. Objective We aimed to…
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