94 results match your criteria: "UCL Institute of Neurology London[Affiliation]"

Introduction: Plasma phosphorylated tau-181 (p-tau181) associations with global cognition and memory are clear, but the link between p-tau181 with other cognitive domains and subjective cognitive decline (SCD) across the clinical spectrum of Alzheimer's disease (AD) and how this association changes based on genetic and demographic factors is poorly understood.

Methods: Participants were drawn from the Alzheimer's Disease Neuroimaging Initiative (ADNI) and included 1185 adults >55 years of age with plasma p-tau181 and neuropsychological test data. Linear regression models related plasma p-tau181 to neuropsychological composite and SCD scores with follow-up models examining plasma p-tau181 interactions with cognitive diagnosis, apolipoprotein E ε4 carrier status, age, and sex on cognitive outcomes.

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Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.

EBioMedicine

September 2024

Department of Neurogenetics, UCL Institute of Neurology London Queen Square and National Hospital for Neurology and Neurosurgery, University College London, London, United Kingdom. Electronic address:

Background: NOTCH3 encodes a transmembrane receptor critical for vascular smooth muscle cell function. NOTCH3 variants are the leading cause of hereditary cerebral small vessel disease (SVD). While monoallelic cysteine-involving missense variants in NOTCH3 are well-studied in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), patients with biallelic variants in NOTCH3 are extremely rare and not well characterised.

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Introduction: A major limitation in Alzheimer's disease (AD) research is the lack of the ability to measure cognitive performance at scale-robustly, remotely, and frequently. Currently, there are no established online digital platforms validated against plasma biomarkers of AD.

Methods: We used a novel web-based platform that assessed different cognitive functions in AD patients ( = 46) and elderly controls ( = 53) who were also evaluated for plasma biomarkers (amyloid beta 42/40 ratio, phosphorylated tau ([p-tau]181, glial fibrillary acidic protein, neurofilament light chain).

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The relation between cerebrospinal fluid (CSF) biomarkers of Alzheimer's disease (AD) and magnetic resonance imaging (MRI) measures is poorly understood in cognitively healthy individuals from the general population. Participants' ( = 226) mean age was 70.9 years (SD = 0.

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Introduction: Neurogranin (Ng) is considered a biomarker for synaptic dysfunction in Alzheimer's disease (AD). In contrast, the inflammasome complex has been shown to exacerbate AD pathology.

Methods: We investigated the protein expression, morphological differences of Ng, and correlated Ng to hyperphosphorylated tau in the brains of 17 AD cases and 17 age- and sex-matched controls.

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Article Synopsis
  • This study investigated the effectiveness of plasma glial fibrillary acidic protein (GFAP) as a biomarker for cognitive impairment in Alzheimer's disease (AD) compared to other biomarkers like neurofilament light chain (NfL) and phosphorylated tau (p-tau).
  • The research analyzed plasma samples from 567 participants and correlated GFAP levels with cognitive functions and dementia severity, finding that GFAP was significantly more effective in differentiating between normal cognition and AD dementia or mild cognitive impairment.
  • While higher GFAP levels were linked to worse cognitive performance and dementia symptoms, it specifically predicted memory decline over time but did not indicate progression to mild cognitive impairment or dementia.
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Background: Neuropathic Tremor (NT) is a postural/kinetic tremor of the upper extremity, often encountered in patients with chronic neuropathies such as paraprotein-associated and hereditary neuropathies.

Objectives: To describe the clinical and electrophysiological features of NT in a previously underrecognized setting- during recovery from Guillain-Barré Syndrome (GBS).

Methods: Patients with a documented diagnosis of GBS in the past, presenting with tremor were identified from review of clinical records.

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Introduction: Plasma tests have demonstrated high diagnostic accuracy for identifying Alzheimer's disease pathology. To facilitate the transition to clinical utility, we assessed whether plasma storage duration and temperature affect the biomarker concentrations.

Methods: Plasma samples from 13 participants were stored at +4°C and +18°C.

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Background: Behaviors interfering with medication adherence (MA) are common and often complex in Parkinson's disease (PD), negatively affecting quality of life and undermining the value of clinical trials. The Clinical Outcome Assessments (COA) Scientific Evaluation Committee of the International Parkinson and Movement Disorder Society (MDS) commissioned the assessment of MA rating scales to recommend the use in PD.

Objective: Critically review the measurement properties of rating scales used to assess MA in PD and to issue recommendations.

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Background: Parkinson's disease (PD) affects males more than females. The reasons for the gender differences in PD prevalence remain unclear.

Objective: The objective of this systematic review and meta-analysis was to update the overall male/female prevalence ratios (OPR).

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Introduction: White matter (WM) degeneration is a critical component of early Alzheimer's disease (AD) pathophysiology. Diffusion-weighted imaging (DWI) models, including diffusion tensor imaging (DTI), neurite orientation dispersion and density imaging (NODDI), and mean apparent propagator MRI (MAP-MRI), have the potential to identify early neurodegenerative WM changes associated with AD.

Methods: We imaged 213 (198 cognitively unimpaired) aging adults with DWI and used tract-based spatial statistics to compare 15 DWI metrics of WM microstructure to 9 cerebrospinal fluid (CSF) markers of AD pathology and neurodegeneration treated as continuous variables.

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Background Integrin α7β1 is a major laminin receptor in skeletal and cardiac muscle. In skeletal muscle, integrin α7β1 plays an important role during muscle development and has been described as an important modifier of skeletal muscle diseases. The integrin α7β1 is also highly expressed in the heart, but its precise role in cardiac function is unknown.

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Article Synopsis
  • The study explores key differences between familial frontotemporal dementia (f-FTD) and sporadic frontotemporal dementia (s-FTD), particularly in clinical features, biomarkers, and survival rates.
  • A total of 570 patients were analyzed, revealing that f-FTD patients generally have worse behavioral disturbances, higher serum neurofilament light (NfL) concentrations, and more significant brain atrophy compared to s-FTD patients.
  • The findings suggest that while f-FTD and s-FTD are similar clinically, they exhibit distinct biological characteristics that may influence treatment approaches.
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Alzheimer's disease (AD) and other dementias are a global challenge. Early diagnosis is important to manage the disease. However, there are barriers to diagnosis that differ by region.

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Article Synopsis
  • * Results indicate that severe asthma is associated with increased levels of neurogranin, a biomarker for synaptic degeneration, and exacerbated relationships between cardiovascular risk and dementia-related brain changes.
  • * The findings suggest that individuals with severe asthma may have a heightened risk for dementia due to both the effects of asthma on brain health and interactions with cardiovascular and genetic risk factors.
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Introduction: It is important to understand which biological processes change with aging, and how such changes are associated with increased Alzheimer's disease (AD) risk. We studied how cerebrospinal fluid (CSF) proteomics changed with age and tested if associations depended on amyloid status, sex, and apolipoprotein E Ɛ4 genotype.

Methods: We included 277 cognitively intact individuals aged 46 to 89 years from Alzheimer's Disease Neuroimaging Initiative, European Medical Information Framework for Alzheimer's Disease Multimodal Biomarker Discovery, and Metabolic Syndrome in Men.

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Introduction: Subcortical small-vessel disease (SSVD) is the most common vascular cognitive disorder. However, because no disease-specific cerebrospinal fluid (CSF) biomarkers are available for SSVD, our aim was to identify such markers.

Methods: We included 170 healthy controls and patients from the Gothenburg Mild Cognitive Impairment (MCI) study clinically diagnosed with SSVD dementia, Alzheimer's disease (AD), or mixed AD/SSVD.

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Introduction: Herpes simplex virus (HSV) may be involved in Alzheimer's disease (AD) pathophysiology. The antiviral valacyclovir inhibits HSV replication.

Methods: This phase-II pilot trial involved valacyclovir administration (thrice daily, 500 mg week 1, 1000 mg weeks 2-4) to persons aged ≥ 65 years with early-stage AD, anti-HSV immunoglobulin G, and apolipoprotein E ε4.

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Neurofilament light protein (NfL) in cerebrospinal fluid (CSF) and plasma (P) are suggested to be interchangeable markers of neurodegeneration. However, evidence is scarce from community-based samples. NfL was examined in a small-scale sample of 287 individuals from the Gothenburg H70 Birth cohort 1944 study, using linear models in relation to CSF and magnetic resonance imaging (MRI) biomarker evidence of neurodegeneration.

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Introduction: Blood-based Alzheimer's disease (AD) biomarkers show promise, but pre-analytical protocol differences may pose problems. We examined seven AD blood biomarkers (amyloid beta [ , , , total tau [t-tau], neurofilament light chain [NfL], and ) in three collection tube types (ethylenediaminetetraacetic acid [EDTA] plasma, heparin plasma, serum).

Methods: Plasma and serum were obtained from cerebrospinal fluid or amyloid positron emission tomography-positive and -negative participants (N = 38) in the Wisconsin Registry for Alzheimer's Prevention.

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Introduction: The relationship between urate and biomarkers for Alzheimer's disease (AD) pathophysiology has not been investigated.

Methods: We examined whether serum concentration of urate was associated with cerebrospinal fluid biomarkers, amyloid beta (Aβ), Aβ, phosphorylated tau (p-tau), total tau (t-tau), neurofilament light (NfL), and Aβ/Aβ ratio, in cognitively unimpaired 70-year-old individuals from Gothenburg, Sweden. We also evaluated whether possible associations were modulated by the apolipoprotein E () ε4 allele.

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Introduction: We investigated whether insulin resistance (IR) was associated with longitudinal age-related change in cognition and biomarkers of Alzheimer's disease (AD) pathology and neurodegeneration in middle-aged and older adults who were non-demented at baseline.

Methods: IR was measured with homeostatic model assessment of insulin resistance (HOMA2-IR). Core AD-related cerebrospinal fluid (CSF) biomarkers and cognition were assessed, respectively, on n = 212 (1 to 5 visits) and n = 1299 (1 to 6 visits).

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