Related Experiment Video
Updated: Apr 23, 2026
08:53
Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells
Published on: May 16, 2017
8.4K
Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion.
Suzee E Lee1, Anna M Khazenzon2, Andrew J Trujillo2
11 Memory and Ageing Centre, Department of Neurology, University of California, San Francisco, CA 94158, USA suzeelee@memory.ucsf.edu.
Brain : a Journal of Neurology
|October 3, 2014
Summary
Behavioral variant frontotemporal dementia (bvFTD) patients with or without C9orf72 gene expansion show similar brain network disruptions. Task-free fMRI may detect early bvFTD in C9orf72 carriers, serving as a unifying biomarker.
Area of Science:
- Neuroscience
- Genetics
- Neurology
Background:
- C9orf72 gene expansion is the most common genetic cause of behavioral variant frontotemporal dementia (bvFTD).
- bvFTD patients with C9orf72 mutations show varied atrophy patterns, complicating diagnosis.
- Understanding network integrity differences is crucial for diagnosing and treating bvFTD.
Purpose of the Study:
- To investigate intrinsic connectivity network integrity in bvFTD patients with and without C9orf72 expansion.
- To compare network integrity between C9orf72 carriers, non-carriers, and healthy controls.
- To explore functional magnetic resonance imaging (fMRI) as a potential biomarker for early bvFTD detection.
Main Methods:
- Studied 28 bvFTD patients (14 C9orf72 carriers, 14 non-carriers) and 14 healthy controls.
- Acquired neuropsychological data, structural MRI, and task-free functional MRI.
- Analyzed voxel-based morphometry for atrophy and seed-based connectivity for salience, sensorimotor, and default mode networks.
Main Results:
- bvFTD patients, regardless of C9orf72 status, exhibited similar reductions in salience and sensorimotor network connectivity.
- Non-carriers showed increased default mode network connectivity compared to controls and carriers.
- Behavioral symptom severity correlated with altered salience and default mode network connectivity.
Conclusions:
- bvFTD patients with or without C9orf72 expansion show convergent large-scale network disruptions despite distinct atrophy.
- Medial pulvinar degeneration in C9orf72 carriers may disrupt salience network connectivity.
- Task-free fMRI shows potential for early bvFTD detection in C9orf72 carriers, offering a unified biomarker.
Related Concept Videos
01:21Huntington Disease l: Introduction
26
Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show...
26
01:23Alzheimer Disease ll: Pathophysiology
10
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...
10
01:22Dementia l: Introduction
12
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...
12
01:29Alzheimer Disease l: Introduction
10
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...
10
01:37Neural Regulation
34.5K
Digestion begins with a cephalic phase that prepares the digestive system to receive food. When our brain processes visual or olfactory information about food, it triggers impulses in the cranial nerves innervating the salivary glands and stomach to prepare for food.
34.5K