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Clinical spectrum of positional downbeat nystagmus: a diagnostic approach.
J Neurol
January 2025
Department of Neurology, University of Chicago, 5841 South Maryland Avenue, Chicago, IL, 60637, USA.
Positional downbeat nystagmus (pDBN) is a common finding in dizzy patients, with etiologies ranging from benign paroxysmal positional vertigo (BPPV) to central vestibular lesions. Although peripheral pDBN often presents with distinct clinical features that differentiate it from BPPV, diagnosing its etiology can be challenging. A thorough clinical evaluation, including the physical characteristics of the nystagmus, response to positional maneuvers, and neurological findings, is often sufficient to diagnose conditions that provoke pDBN such as anterior canal BPPV, atypical posterior canal BPPV, and central causes.
View Article and Find Full Text PDFAltered olfactory responses in Fmr1 KO mice.
Sci Rep
January 2025
The Department of Cellular and Integrative Physiology, The University of Texas Health Science Center at San Antonio, San Antonio, TX, USA.
Fragile X syndrome (FXS) is a neurodevelopmental disorder oftentimes associated with abnormal social behaviors and altered sensory responsiveness. It is hypothesized that the inappropriate filtering of sensory stimuli, including olfaction, can lead to aberrant social behavior in FXS. However, previous studies investigating olfaction in animal models of FXS have shown inconsistent results.
View Article and Find Full Text PDFA Balamuthia amoebic encephalitis survivor in China, and literature review.
Diagn Microbiol Infect Dis
January 2025
Department of pathology, Afficiated Hospital of Hebei University, Hebei, Baoding, 071000, China.. Electronic address:
Balamuthia amoebic encephalitis (BAE) is a rare, fatal parasitic infection of the central nervous system, with a current mortality rate above 95%. The high fatality rate is largely attributed to atypical clinicopathological features, delayed diagnosis, and the absence of effective treatment methods, so quick recognition of this disease is vital. In this paper, we present a survivor of BAE, who was confirmed through histologic examination and metagenomic next-generation sequencing (mNGS) of brain lesions.
View Article and Find Full Text PDFDiagnostic clues in herpes encephalitis following radiation therapy.
J Neurol Sci
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The Gaffin Center for Neuro-Oncology, Sharett Institute of Oncology, Hadassah Medical Center, and Faculty of Medicine, The Hebrew University of Jerusalem, Israel. Electronic address:
Introduction: Herpes encephalitis is known to affect patients undergoing brain radiotherapy, but early diagnosis and treatment, the foremost determinants of disease outcome, remain challenging in this patient population. This can be due to attribution of symptoms to the brain tumor and radiation side effects, as well as patients' atypical clinical presentation. Here we sought to highlight pearls and pitfalls in the clinical course and diagnostic workup which may facilitate timely diagnosis and improve disease outcome.
View Article and Find Full Text PDFPolycomb-associated and Trithorax-associated developmental conditions-phenotypic convergence and heterogeneity.
Eur J Hum Genet
January 2025
MRC Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, UK.
Polycomb group (PcG) and Trithorax group (TrxG) complexes represent two major components of the epigenetic machinery. This study aimed to delineate phenotypic similarities and differences across developmental conditions arising from rare variants in PcG and TrxG genes, using data-driven approaches. 462 patients with a PcG or TrxG-associated condition were identified in the DECIPHER dataset.
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