What disease is characterized by neurofibrillary tangles?

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Last updated: March 21, 2025View editorial policy

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From the Guidelines

Alzheimer's disease is characterized by neurofibrillary tangles, which are abnormal accumulations of a protein called tau that occur inside neurons in the brain, as supported by recent studies 1. These tangles are a hallmark feature of Alzheimer's disease and are formed when tau proteins become hyperphosphorylated, causing them to detach from microtubules and aggregate into paired helical filaments. The presence of neurofibrillary tangles disrupts the transport system of neurons, leading to cell death and cognitive decline. While neurofibrillary tangles can also be found in other neurodegenerative conditions, such as chronic traumatic encephalopathy (CTE), frontotemporal dementia, and some forms of Parkinson's disease, the specific pattern and distribution of these tangles in Alzheimer's disease, particularly in the entorhinal cortex, hippocampus, and neocortex, along with amyloid plaques, distinguishes it from other neurodegenerative disorders 1. The diagnosis of Alzheimer's disease due to neurofibrillary tangles can be supported by biomarkers, including cerebrospinal fluid measures of lower Aβ42 levels and positron-emission tomography (PET) evidence of Aβ deposition, as well as markers of tau accumulation, such as CSF measures of increased total tau or phosphorylated-tau (p-tau) 1. Overall, the presence of neurofibrillary tangles is a key feature of Alzheimer's disease and plays a critical role in the diagnosis and understanding of the disease.

From the Research

Disease Characterization

The disease characterized by neurofibrillary tangles is Alzheimer's disease (AD) 2, 3, 4, 5, 6.

Key Features

Some key features of Alzheimer's disease include:

  • Progressive cognitive decline 2, 3, 4, 5, 6
  • Pathological hallmarks of amyloid plaques and neurofibrillary tangles 2, 3, 4, 5, 6
  • Neurofibrillary tangles are intracellular lesions mainly composed of hyperphosphorylated Tau protein 3, 5
  • Neuritic plaques are extracellular lesions with the amyloid-β42 peptide (Aβ42) as the main constituent 3

Research Findings

Research on Alzheimer's disease has led to a better understanding of the disease's mechanisms and potential therapeutic strategies 2, 5. Studies have investigated the role of tau protein in synaptotoxicity and the potential applications of disease-modifying strategies targeting synaptic failure 2. Additionally, research has explored the relationship between amyloid-beta, tau protein, and the development of Alzheimer's disease 3, 6.

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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