Related Experiment Video
Updated: Nov 28, 2025
09:33
Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
28.9K
Structural and functional brain changes in hepatic and neurological Wilson disease
Sule Tinaz1,2, Jagriti Arora3, Keerthana Nalamada4
1Department of Neurology, Yale University School of Medicine, 15 York St, LCI Suite 710, New Haven, CT, 06510, USA. sule.tinaz@yale.edu.
Brain Imaging and Behavior
|November 27, 2020
Summary
Brain changes occur in Wilson disease (WD) even without neurological symptoms. MRI reveals structural and functional alterations in hepatic and neurological WD patients, suggesting potential biomarkers for treatment.
Area of Science:
- Neuroimaging
- Neurology
- Genetics
Background:
- Wilson disease (WD) presents with hepatic or neuropsychiatric symptoms.
- In vivo brain changes in WD, especially in the hepatic phenotype, are not well understood.
- Limited data exists on subtle brain alterations in neurologically asymptomatic WD patients.
Purpose of the Study:
- To investigate in vivo brain structural and functional changes in Wilson disease patients.
- To compare brain alterations between neurologically symptomatic (WDN) and hepatic-only (WDH) WD subgroups.
- To identify potential MRI-based biomarkers for WD prognostication and treatment.
Main Methods:
- 3 Tesla anatomical, resting-state functional MRI, Diffusion Tensor Imaging (DTI), and Susceptibility-Weighted Imaging (SWI) were performed.
- Thirty WD patients (divided into WDN and WDH subgroups) and 30 age/gender-matched controls participated.
- Volumetric, DTI, and functional connectivity analyses were conducted to assess group differences.
Main Results:
- The entire WD group showed superior frontal cortex thinning compared to controls.
- WDN patients exhibited striatal/thalamic atrophy, subcortical lesions (SWI), and reduced white matter integrity.
- WDH patients showed white matter volume loss, while WDN had reduced frontostriatal connectivity and WDH had increased hippocampal connectivity.
Conclusions:
- Structural and functional brain changes are present in Wilson disease, even in neurologically non-manifesting patients.
- MRI findings suggest distinct patterns of brain alterations in hepatic versus neurological WD phenotypes.
- Longitudinal brain MRI may serve as a valuable biomarker for predicting WD progression and guiding treatment strategies.
Related Concept Videos
01:22Effect of Hepatic Disease on Pharmacokinetics: Pathophysiologic Assessment and Liver Function Test
87
In clinical practice, the direct measurement of hepatic blood flow to evaluate liver function presents significant challenges due to the intricate and specialized nature of the necessary techniques. Consequently, healthcare professionals often rely on empirical estimates derived from thorough patient examinations and liver function tests to gauge liver health. Among the tools at their disposal, the Child–Pugh and MELD scoring systems stand out for their ability to categorize and assess...
87
01:26Effect of Hepatic Disease on Pharmacokinetics: Drug Dosing and Hepatic Blood Flow
112
Chronic liver disease significantly impacts drug metabolism due to alterations in hepatic blood flow and enzyme accessibility. This disruption affects the body's pharmacokinetics—the movement and processing of drugs within the system. Key enzymes crucial for metabolizing medications become less accessible, changing how drugs are processed and utilized. Furthermore, liver disease influences the synthesis of plasma proteins, such as albumin and globulins, which play critical roles in drug...
112
01:37Neural Regulation
42.3K
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.
42.3K
01:28Disorders of the Nervous Tissue
2.3K
Nervous tissue is a vital component of the human body's communication system, enabling us to perceive and respond to stimuli. However, like all other tissues, it is vulnerable to disorders and diseases that can significantly impact our neurological functioning.
Homeostatic Imbalances:
Alzheimer's disease manifests as a gradual decline in memory and cognitive abilities, attributed to the buildup of amyloid plaques and neurofibrillary tangles in the brain.
Parkinson's disease arises from the...
Homeostatic Imbalances:
Alzheimer's disease manifests as a gradual decline in memory and cognitive abilities, attributed to the buildup of amyloid plaques and neurofibrillary tangles in the brain.
Parkinson's disease arises from the...
2.3K
01:26Alzheimer's Disease: Overview
1.2K
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...
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ...
1.2K
01:15Functional Brain Systems: Limbic System
5.2K
The limbic system, often called the "emotional brain," is a complex set of structures located deep within the brain. The intricate network of the limbic system supports a wide range of psychological functions, from emotional regulation to memory formation and sensory processing. This functional brain region encompasses specific parts of the diencephalon and the cerebrum, integrating the higher mental functions of the cerebral cortex with the primitive emotional responses of the deep brain...
5.2K