Related Experiment Video
Updated: Aug 8, 2026
09:22
In Vitro Aggregation Assays Using Hyperphosphorylated Tau Protein
Published on: January 2, 2015
Autosomal dominant dementia with widespread neurofibrillary tangles
L A Reed1, T J Grabowski, M L Schmidt
1Department of Pathology, University of Iowa Hospitals and Clinics, Iowa City 52242, USA.
Annals of Neurology
|October 24, 1997
Summary
This study identifies a rare, early-onset dementia in a Midwestern family with autosomal dominant inheritance. Neuropathology revealed abundant tau-rich neurofibrillary tangles but no amyloid plaques, suggesting a distinct disease entity.
Area of Science:
- Neurology
- Genetics
- Pathology
Background:
- Familial dementias with atypical features are rare.
- Neurofibrillary lesions are seldom the sole neuropathologic hallmark.
Purpose of the Study:
- To characterize a novel familial dementia syndrome.
- To investigate the genetic and neuropathologic basis of this disorder.
Main Methods:
- Pedigree analysis across four generations.
- Clinical assessment of affected individuals.
- Post-mortem neuropathologic examination including immunohistochemistry and electron microscopy.
Main Results:
- A pedigree of 15 individuals with early-onset autosomal dominant dementia and long disease duration was identified.
- Neuropathology showed abundant intraneuronal neurofibrillary tangles (NFTs) primarily in subcortical regions, with absent amyloid plaques.
- NFTs contained paired helical filaments and recognized various tau epitopes.
Conclusions:
- The described familial dementia presents a unique clinical and neuropathologic profile.
- The absence of amyloid plaques and specific tau pathology suggests this may represent a distinct neurodegenerative disease entity.
- Further research is warranted to elucidate the genetic underpinnings and precise classification of this disorder.
More Related Videos
Related Concept Videos
01:26Alzheimer's Disease: Overview
Alzheimer's Disease (AD) is a continually advancing neurodegenerative disorder, distinguished by escalating memory loss, cognitive dysfunction, and dementia. The disease unfolds in three stages: preclinical, mild cognitive impairment (MCI), and dementia. Its onset is insidious, and the progression gradual, with the cause not well explained by other disorders.
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ and tau...
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ and tau...
01:22Alzheimer's Disease: Treatment
Alzheimer's Disease (AD), a neurodegenerative disorder, is pathologically identified by amyloid plaques and neurofibrillary tangles composed of tau protein. AD pharmacotherapy aims to manage cognitive symptoms, delay disease progression, and treat behavioral symptoms. The treatment is primarily symptomatic and palliative, with no definitive disease-modifying therapy available. Cholinesterase inhibitors, including donepezil (Aricept), rivastigmine (Exelon), and galantamine (Razadyne), are...
01:30Dementia
Dementia is a collective term for cognitive disorders primarily affecting memory, thinking, and reasoning. It is not a specific disease but a syndrome, with Alzheimer's disease being the most common cause, accounting for approximately 60-80% of cases. Other types include vascular dementia, Lewy body dementia, and frontotemporal dementia. Dementia affects millions worldwide, particularly older adults, though it is not a normal part of aging.
The progression of dementia is generally gradual.
The progression of dementia is generally gradual.
01:29Alzheimer Disease l: Introduction
Alzheimer disease is a chronic, progressive, and irreversible neurodegenerative disorder and the most common cause of dementia in older adults. It leads to gradual neuronal loss, causing cognitive decline, behavioral changes, and loss of functional independence.Risk Factors and EtiologyThe disease is multifactorial. Age is the strongest risk factor, with prevalence doubling every 5 years after age 65. Genetic factors include mutations in genes such as APP, PSEN1, and PSEN2, which are associated...
01:23Alzheimer Disease ll: Pathophysiology
Alzheimer disease involves structural changes in the brain that begin long before symptoms appear. The most distinctive features are extracellular neuritic plaques and intracellular neurofibrillary tangles.Neuritic plaques form in the cerebral cortex and around blood vessels. These plaques contain a dense core of beta-amyloid (Aβ)—a toxic protein fragment that clumps outside neurons. The core is surrounded by damaged neuronal extensions, as well as reactive astrocytes and microglia. Abnormal...
01:22Dementia l: Introduction
Dementia is an acquired, progressive syndrome characterized by a decline in multiple cognitive domains severe enough to impair daily functioning and reduce independence. Although memory loss is a central feature, the diagnosis requires additional deficits involving language, executive function, visuospatial skills, judgment, calculation, or abstract reasoning. These cognitive impairments reflect underlying neurodegenerative or vascular processes that gradually disrupt neuronal networks...