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1320 articles
September 202624
Delayed diagnosis and genetic testing in spinal muscular atrophy: a case series.
This case series presents five patients with spinal muscular atrophy (SMA) who experienced significant delays in diagnosis.
Astrocyte-Predominant Tau Pathology in a Patient With VCP R191Q Variant.
A Japanese woman with a heterozygous VCP R191Q variant presented with progressive muscle weakness, frontotemporal dementia, and parkinsonism, ultimately passing away at 61.
The Neurological Impact of Metabolic and Bariatric Surgery: A Systematic Review of Post-Operative Neuropathic and Non-Neuropathic Complications.
This systematic review evaluated neurological complications following metabolic and bariatric surgery in over 5000 patients.
Adult-Onset Langerhans Cell Histiocytosis With Calvarial and Hypothalamic Involvement: Two Cases.
This report details two cases of adult-onset Langerhans cell histiocytosis (LCH). The first case involved a 36-year-old woman with a solitary osteolytic lesion in the calvarium, treated with surgical resection and…
Improving survival in Duchenne muscular dystrophy across eras: a systematic review and cumulative meta-analysis.
This systematic review and cumulative meta-analysis evaluated survival trends in Duchenne muscular dystrophy (DMD) across eras, analyzing over 13,000 patients.
Downbeat nystagmus without ataxia as an early manifestation of spinocerebellar ataxia, autosomal recessive type 10 (SCAR10): a case report.
A 23-year-old female with a history of migraine presented with a four-month history of progressive vestibular dizziness. Neurological examination revealed downbeat nystagmus without ataxia.
From target engagement to translational disconnect: A systematic review and narrative synthesis of direct tau-targeted clinical trials in Alzheimer's disease and primary tauopathies.
This systematic review examined 11 clinical trials of tau-targeted therapies in Alzheimer's disease and primary tauopathies.
Pathogenesis of the Holmes tremor due to cerebellar lesions: A case series with a narrative review.
This report discusses two patients with Holmes tremor associated with cerebellar lesions. MRI findings in both patients indicated Wallerian degeneration of the dentato-rubro-thalamic pathway (DRTP) and suggested…
Cognitive impairment as a manifestation of SPG7: case report.
A 42-year-old man with a 10-year history of dysarthria and 5 years of gait difficulties presented with cognitive symptoms over the last 3 years.
The current state of clinical practice guidelines for women with epilepsy: a systematic review.
This systematic review assessed the methodological quality and women-specific content of clinical practice guidelines for women with epilepsy.
Neurologic complications of Evans syndrome.
A patient with severe Evans syndrome developed status epilepticus due to intracranial hemorrhage from profound treatment-refractory thrombocytopenia.
Primary results from the targeted exercise for African-Americans with multiple sclerosis project.
This parallel-group randomized controlled trial assessed remotely delivered, culturally tailored exercise training versus stretching and flexibility in 123 African-American participants with multiple sclerosis.
Tactile restoration of familiarity in Capgras syndrome following right hemorrhagic stroke: Lesion mapping, Disconnectome analysis, and lesion network characterization of multisensory person recognition.
A patient developed Capgras syndrome after a right hemispheric hemorrhagic stroke, believing that his wife and son were impostors despite recognizing that they looked identical to themselves.
Acute-onset dysphagia: an uncommon presentation of myasthenia crisis.
A patient with undiagnosed myasthenia gravis presented with acute-onset dysphagia, indicative of a myasthenia crisis. The case highlights the potential triggers, including an acute exacerbation of chronic rhinosinusitis…
High-grade B-cell lymphoma presenting with bulbar palsy and Tapia syndrome: A case report.
A 46-year-old male presented with dysphagia, which led to the diagnosis of high-grade B-cell lymphoma. His symptoms included bulbar palsy and Tapia syndrome, which are uncommon initial manifestations of lymphoma.
Clinical challenges and individualized management of hypertensive emergency complicated by acute ischemic stroke: A case report and literature review.
Three patients with chronic hypertension presented with acute ischemic stroke during a hypertensive emergency. They were diagnosed based on clinical signs and imaging.
Progressive Axonal Neuropathy and Cerebellar Ataxia Associated with Homozygous Pathogenic POLG Mutation in a Patient of African Descent from Northern Minas Gerais/Jequitinhonha Valley, Brazil: A Case Report and Epidemiological Implications.
A 41-year-old man of African descent presented with progressive axonal sensorimotor neuropathy, cerebellar ataxia, dysarthria, and oculomotor abnormalities.
Non-convulsive status epilepticus revealing acute deterioration in AARS2 mutation-associated progressive leukoencephalopathy.
A 41-year-old woman with AARS2 mutation-associated leukoencephalopathy presented with rapid cognitive decline and altered mental status.
PHACE syndrome: a systematic literature review and illustrative case report of a patient with severe cerebrovascular and neurodevelopmental sequelae.
A 12-year-old girl with PHACE syndrome presented with a left V1-distribution facial hemangioma and significant cerebrovascular complications, including neonatal intraventricular hemorrhage, hydrocephalus, and a dural…
Glial fibrillary acidic protein in progressive supranuclear palsy: A systematic review and meta-analysis.
This systematic review and meta-analysis evaluated glial fibrillary acidic protein (GFAP) levels in progressive supranuclear palsy (PSP) compared to healthy controls and other parkinsonian disorders.
Epidemiology of multiple sclerosis in iran: an updated systematic review and meta-analysis.
This systematic review and random-effects meta-analysis updated estimates of multiple sclerosis (MS) prevalence and incidence in Iran. It included 56 articles comprising 142 individual studies.
Does quantitative susceptibility mapping elucidate age-related alterations in deep gray matter iron deposition? A systematic review.
This PRISMA-guided systematic review examined QSM studies of brain iron in healthy aging, synthesizing evidence from 12 studies involving 2,178 participants.
Psilocybin-induced changes in electroencephalography link acute and long-term effects.
This double-blind, placebo-controlled crossover trial examined electroencephalographic changes after psilocybin in 20 healthy participants.
Expanding the TBL1XR1 Disease Spectrum: Generalized Dystonia Associated with a New Genetic Variant.
A 61-year-old man with a long-standing misdiagnosis of cerebral palsy presented with neurodevelopmental disorder, mild ataxia, and generalized dystonia.
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