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Related Concept Videos

Blood Studies for Cardiovascular System I: Cardiac Biomarkers01:20

Blood Studies for Cardiovascular System I: Cardiac Biomarkers

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Cardiac biomarkers are enzymes, proteins, and hormones released into the blood when cardiac cells are injured. They are powerful tools for triaging.
The essential diagnostic tools for detecting myocardial necrosis and monitoring individuals suspected of having acute coronary syndrome (ACS) include:
Troponins
Troponins, particularly cardiac troponins I and T, are the most precise and sensitive markers of myocardial injury. They are detectable within 4-6 hours of myocardial injury and remain...
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Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers01:19

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Cardiac biomarkers are critical in diagnosing, prognosing, and managing cardiovascular diseases. Routine measurement of specific biomarkers such as B-type natriuretic peptide (BNP), C-reactive protein (CRP), and homocysteine (Hcy) is common practice in clinical settings to evaluate heart function and predict cardiovascular events.
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Dried Blood Spot Collection of Health Biomarkers to Maximize Participation in Population Studies
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Biomarkers.

Sizhe Zhang1, Bin Jiao1, Yan Zeng1

  • 1Xiangya Hospital, Central South University, Changsha, Hunan, China.

Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|December 25, 2025
PubMed
Summary
This summary is machine-generated.

Biomarker levels like phosphorylated tau (p-tau) and glial fibrillary acidic protein (GFAP) are elevated in Neuronal Intranuclear Inclusion Disease (NIID) and its presymptomatic stage (preNIID). These biomarkers show potential for early NIID detection but struggle to differentiate NIID from Alzheimer's disease (AD).

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Area of Science:

  • Neuroscience
  • Biomarker Discovery
  • Neurodegenerative Diseases

Background:

  • Neuronal Intranuclear Inclusion Disease (NIID) is a GGC repeat expansion disease in NOTCH2NLC, causing cognitive impairment and intranuclear inclusions.
  • Limited research exists on biomarker alterations in NIID and presymptomatic NIID (preNIID).
  • Direct comparisons between NIID and Alzheimer's Disease (AD) biomarkers are scarce.

Purpose of the Study:

  • To comprehensively analyze plasma biomarker alterations in NIID patients and preNIID individuals.
  • To compare biomarker profiles between NIID, AD, and healthy controls (HCs).
  • To evaluate the diagnostic potential of biomarkers for NIID and preNIID detection.

Main Methods:

  • Two cohorts were analyzed: Cohort 1 (344 participants: 87 NIID, 147 AD, 110 HCs) and Cohort 2 (52 participants: 26 preNIID, 26 HCs).
  • Eight plasma biomarkers were measured: Amyloid-β (Aβ) 40, Aβ42, neurofilament light (NfL), α-synuclein (α-syn), phosphorylated tau protein 181 (p-tau181), p-tau217, p-tau231, and glial fibrillary acidic protein (GFAP).
  • Neuropsychological tests and MRI were performed.

Main Results:

  • NfL, α-syn, p-tau181, p-tau217, p-tau231, and GFAP were elevated in NIID compared to HCs.
  • α-syn, p-tau181, p-tau217, and p-tau231 levels were similar between NIID and AD, while NfL was higher in NIID and GFAP was lower.
  • p-tau217 demonstrated strong diagnostic performance for NIID vs. HCs (AUC 0.814), and p-tau species and GFAP showed potential for preNIID detection (AUC ~0.850).
  • Elevated p-tau species and GFAP were observed in preNIID individuals.
  • Phosphorylated tau (p-tau) species, including p-tau217, could not reliably distinguish NIID from AD.

Conclusions:

  • Plasma p-tau levels, particularly p-tau217, offer new insights into NIID pathophysiology.
  • Early alterations in p-tau species and GFAP in preNIID highlight their potential as early diagnostic biomarkers for NIID.
  • p-tau species are not effective in differentiating NIID from AD, suggesting distinct underlying pathologies or biomarker limitations.