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Regional decrease in brain glucose metabolism in asymptomatic gene carriers of Machado-Joseph disease: a preliminary
1Department of Neurology, National Yang-Ming University School of Medicine, Taiwan, ROC.
Background:
The molecular abnormality responsible for Machado-Joseph disease (MJD), a neurodegenerative disorder, has recently been described. It has also been previously documented using positron emission tomography (PET) with [18F]-2-fluoro-2-deoxy-D-glucose (FDG) to record the metabolic changes in the brains of symptomatic subjects affected with MJD. The present study evaluated these changes in asymptomatic MJD gene carriers, previously identified by molecular analysis.
Methods:
PET with FDG was used to study glucose metabolism in the brains of three asymptomatic MJD gene carriers who were identified by molecular analysis, and in 10 normal control subjects.
Results:
By comparison with data obtained from normal control subjects, significantly decreased glucose utilization was found in the cerebellar hemisphere and occipital cortex of these three asymptomatic MJD gene carriers, suggesting preclinical disease activity. The sensitivity of diagnosis based on PET examination alone was 100% in this study, using significant decrease in glucose metabolism in the cerebellar hemisphere as a criterion.
Conclusions:
Measurement of regional brain metabolism by PET is noninvasive, and subclinical reduction of FDG consumption in the cerebellar hemisphere and occipital cortex is found to act as an objective marker of disease activity. Based on the results from a limited number of patients, the sensitivity of PET is sufficient to justify its routine use in the investigation of asymptomatic at-risk MJD subjects.
Insights
Positron emission tomography (PET) with [18F]-2-fluoro-2-deoxy-D-glucose (FDG) detected decreased brain metabolism in asymptomatic Machado-Joseph disease (MJD) gene carriers. This suggests preclinical disease activity and supports PET
Area of Science:
- Neuroscience
- Molecular Biology
- Medical Imaging
Background:
- Machado-Joseph disease (MJD) is a neurodegenerative disorder with a known molecular abnormality.
- Previous studies used [18F]-2-fluoro-2-deoxy-D-glucose (FDG) positron emission tomography (PET) to assess metabolic changes in symptomatic MJD patients.
- This study investigated metabolic changes in asymptomatic MJD gene carriers.
Purpose of the Study:
- To evaluate brain glucose metabolism in asymptomatic MJD gene carriers using FDG-PET.
- To identify potential preclinical markers of MJD activity.
Main Methods:
- FDG-PET was employed to measure glucose metabolism in the brains of three asymptomatic MJD gene carriers.
- Ten normal control subjects were included for comparison.
Main Results:
- Asymptomatic MJD gene carriers showed significantly decreased glucose utilization in the cerebellar hemisphere and occipital cortex compared to controls.
- These metabolic changes suggest preclinical MJD activity.
- PET examination alone achieved 100% diagnostic sensitivity using decreased cerebellar hemisphere metabolism as a criterion.
Conclusions:
- Regional brain metabolism measurement by PET is a noninvasive method.
- Subclinical reduction in FDG uptake in the cerebellum and occipital cortex serves as an objective marker of MJD disease activity.
- The high sensitivity of PET supports its routine use for investigating asymptomatic at-risk MJD individuals.