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A majority of current disease-modifying therapeutic approaches for age-related neurodegenerative diseases target their characteristic proteopathic lesions (α-synuclein, Tau, Aβ). To monitor such treatments, fluid biomarkers reflecting the underlying disease process are crucial. We found robust increases of neurofilament light chain (NfL) in CSF and blood in murine models of α-synucleinopathies, tauopathy, and β-amyloidosis. Blood and CSF NfL levels were strongly correlated, and NfL increases coincided with the onset and progression of the corresponding proteopathic lesions in brain. Experimental induction of α-synuclein lesions increased CSF and blood NfL levels, while blocking Aβ lesions attenuated the NfL increase. Consistently, we also found NfL increases in CSF and blood of human α-synucleinopathies, tauopathies, and Alzheimer's disease. Our results suggest that CSF and particularly blood NfL can serve as a reliable and easily accessible biomarker to monitor disease progression and treatment response in mouse models and potentially in human proteopathic neurodegenerative diseases.
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http://dx.doi.org/10.1016/j.neuron.2016.05.018 | DOI Listing |
Neurol Neuroimmunol Neuroinflamm
November 2025
Department of Neurology, UC Davis Medical Center, Sacramento, CA.
Objectives: Complement factor I (CFI) deficiency is a rare condition that can present with fulminant relapsing CNS autoinflammation. In this report, we highlight the utility of genetic testing in unexplained CNS autoinflammation.
Methods: This case report describes a young adult with partial CFI deficiency, presenting with acute hemorrhagic leukoencephalitis and longitudinally extensive transverse myelitis.
JAMA Psychiatry
September 2025
Norman Fixel Institute for Neurological Diseases, University of Florida, Gainesville.
Importance: Behavioral variant frontotemporal dementia (bvFTD), the most common subtype of FTD, is a leading form of early-onset dementia worldwide. Accurate and timely diagnosis of bvFTD is frequently delayed due to symptoms overlapping with common psychiatric disorders, and interest has increased in identifying biomarkers that may aid in differentiating bvFTD from psychiatric disorders.
Objective: To summarize and critically review studies examining whether neurofilament light chain (NfL) in cerebrospinal fluid (CSF) or blood is a viable aid in the differential diagnosis of bvFTD vs psychiatric disorders.
Front Immunol
September 2025
Department of Psychiatry and Psychotherapy, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Introduction: Anti-N-methyl-D-aspartate receptor (NMDA-R) encephalitis is a neuropsychiatric disorder with additional psychiatric features caused by NMDA-R immunoglobulin G (IgG) antibodies in cerebrospinal fluid (CSF). This report presents the follow-up of a patient in whom we assumed mild NMDA-R encephalitis in the first psychotic episode.
Case Study: A patient with a prior episode of an acute polymorphic psychotic syndrome relapsed five and a half years later following a severe COVID-19 infection.
Cell Rep Med
August 2025
Center for Biomedical-photonics and Molecular Imaging, Advanced Diagnostic-Therapy Technology and Equipment Key Laboratory of Higher Education Institutions in Shaanxi Province, School of Life Science and Technology, Xidian University, Xi'an, Shaanxi 710126, China; Engineering Research Center of Mole
Rapid identification and accurate diagnosis are critical for individuals with acute leukemia (AL). Here, we propose a combined deep learning and surface-enhanced Raman scattering (DL-SERS) classification strategy to achieve rapid and sensitive identification of AL with various subtypes and genetic abnormalities. More than 390 of cerebrospinal fluid (CSF) samples are collected as targets, encompassing healthy control, AL patients, and individuals with other diseases.
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September 2025
Memory Center, Hospital Moinhos de Vento, Porto Alegre, RS, Brazil.
Blood-based biomarkers (BBMs) have emerged as promising tools to enhance Alzheimer's disease (AD) diagnosis. Despite two-thirds of dementia cases occurring in the Global South, research on BBMs has predominantly focused on populations from the Global North. This geographical disparity hinders our understanding of BBM performance in diverse populations.
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