scholarly journals Structural and Functional Brain Abnormalities in Mouse Models of Lafora Disease

2020 ◽  
Vol 21 (20) ◽  
pp. 7771
Author(s):  
Daniel F. Burgos ◽  
Lorena Cussó ◽  
Gentzane Sánchez-Elexpuru ◽  
Daniel Calle ◽  
Max Bautista Perpinyà ◽  
...  
Keyword(s):  
Cerebral Cortex ◽  
Basal Ganglia ◽  
Magnetic Resonance ◽  
Mouse Models ◽  
Autosomal Recessive Inheritance ◽  
Resonance Spectroscopy ◽  
Brain Metabolites ◽  
Lafora Disease ◽  
Progressive Myoclonus Epilepsy ◽  
Positron Emission

Mutations in the EPM2A and EPM2B genes, encoding laforin and malin proteins respectively, are responsible for Lafora disease, a fatal form of progressive myoclonus epilepsy with autosomal recessive inheritance. Neuroimaging studies of patients with Lafora disease have shown different degrees of brain atrophy, decreased glucose brain uptake and alterations on different brain metabolites mainly in the frontal cortex, basal ganglia and cerebellum. Mice deficient for laforin and malin present many features similar to those observed in patients, including cognitive, motor, histological and epileptic hallmarks. We describe the neuroimaging features found in two mouse models of Lafora disease. We found altered volumetric values in the cerebral cortex, hippocampus, basal ganglia and cerebellum using magnetic resonance imaging (MRI). Positron emission tomography (PET) of the cerebral cortex, hippocampus and cerebellum of Epm2a−/− mice revealed abnormal glucose uptake, although no alterations in Epm2b−/− mice were observed. Magnetic resonance spectroscopy (MRS) revealed significant changes in the concentration of several brain metabolites, including N-acetylaspartate (NAA), in agreement with previously described findings in patients. These data may provide new insights into disease mechanisms that may be of value for developing new biomarkers for diagnosis, prevention and treatment of Lafora disease using animal models.

Alterations of Brain Metabolites in Adults With HIV: A Systematic Meta-analysis of Magnetic Resonance Spectroscopy Studies

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000012394
Author(s):  
Sophia Dahmani ◽  
Nicholas Kaliss ◽  
John W. VanMeter ◽  
David J Moore ◽  
Ronald J. Ellis ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
White Matter ◽  
Basal Ganglia ◽  
Magnetic Resonance ◽  
Magnetic Resonance Spectroscopy ◽  
Meta Analysis ◽  
Brain Regions ◽  
Resonance Spectroscopy ◽  
Signal Pathways ◽  
Brain Metabolites

Objective.A meta-analysis of proton magnetic resonance spectroscopy (MRS) studies to investigate alterations in brain metabolites in people with HIV (PWH), as well as their relationship with combination antiretroviral therapy (cART) and cognitive impairment.Methods.The PubMed database was searched for studies published from 1997 to 2020. Twenty-seven studies were identified, which included 1255 PWH and 633 controls. Four metabolites (N-acetyl aspartate (NAA), myo-Inositol (mI), choline (Cho), and glutamatergic metabolites (Glx) from five brain regions (basal ganglia (BG), frontal gray and white matter (FGM, FWM), and parietal gray and white matter (PGM, PWM)) were pooled separately using random-effects meta-analysis.Results.During early HIV infection, metabolite alterations were largely limited to the BG, including Cho elevation, a marker of inflammation. cART led to global mI and Cho normalization (i.e., less elevations), but improvement in NAA was negligible. In chronic PWH on cART, there were consistent NAA reductions across brain regions, along with Cho and mI elevations in the FWM and BG, and Glx elevations in the FWM. Cognitive impairment was associated with NAA reduction and to a lesser degree, mI elevation.Conclusions.The basal ganglia is the primary region affected during early infection. cART is successful in partially controlling neuroinflammation (global mI and Cho normalization). However, neuronal dysfunction (NAA reductions) and neuroinflammation (mI and Cho elevations) persist and contribute to cognitive impairment in chronic PWH. Novel compounds targeting NAA signal pathways, along with better neuroinflammation control, may help to reduce cognitive impairment in PWH.

scholarly journals 18F-fluorodeoxyglucose positron emission tomography and magnetic resonance imaging evaluation of chorea

2018 ◽  
Vol 10 (3) ◽  
Author(s):  
Nobuyuki Ishii ◽  
Hitoshi Mochizuki ◽  
Miyuki Miyamoto ◽  
Yuka Ebihara ◽  
Kazutaka Shiomi ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Positron Emission Tomography ◽  
Basal Ganglia ◽  
Magnetic Resonance ◽  
Emission Tomography ◽  
Fluorodeoxyglucose Positron Emission Tomography ◽  
Resonance Imaging ◽  
Indirect Pathway ◽  
Positron Emission ◽  
Fluorodeoxyglucose Positron Emission

Chorea is thought to be caused by deactivation of the indirect pathway in the basal ganglia circuit. However, few imaging studies have evaluated the basal ganglia circuit in actual patients with chorea. We investigated the lesions and mechanisms underlying chorea using brain magnetic resonance imaging (MRI) and 18F-fluorodeoxyglucose positron emission tomography (FDG-PET). This retrospective case series included three patients with chorea caused by different diseases: hyperglycemic chorea, Huntington’s disease, and subarachnoid hemorrhage. All the patients showed dysfunction in the striatum detected by both MRI and FDG-PET. These neuroimaging findings confirm the theory that chorea is related to an impairment of the indirect pathway of basal ganglia circuit.

Longitudinal Functional Magnetic Resonance Spectroscopy Study in Subjects with Mild Cognitive Impairment and Alzheimer’s Disease

2021 ◽  
Vol 18 ◽  
Author(s):  
Soo-Hyun Cho ◽  
Hak Young Rhee ◽  
Janghoon Oh ◽  
Jin San Lee ◽  
Soonchan Park ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Cognitive Impairment ◽  
Mild Cognitive Impairment ◽  
Magnetic Resonance ◽  
Magnetic Resonance Spectroscopy ◽  
Resonance Spectroscopy ◽  
Brain Metabolites ◽  
Functional Magnetic Resonance ◽  
Longitudinal Changes ◽  
Functional Magnetic Resonance Spectroscopy

Background: Longitudinal changes of brain metabolites during a functional stimulation are unknown in amnestic mild cognitive impairment (aMCI) and Alzheimer’s disease (AD) subjects. Objective: This study was to evaluate the longitudinal changes of brain metabolites using proton magnetic resonance spectroscopy (1H MRS) in response to treatment during a memory task in the subjects of cognitive normal (CN), aMCI, and AD. Methods: We acquired functional magnetic resonance spectroscopy (fMRS) data from 28 CN elderly, 16 aMCI and 12 AD subjects during a face-name association task. We measured fMRS metabolite ratios over 24 months in the 8-month apart, determined the temporal changes of the metabolites, and evaluated the differences among the three groups under the three different conditions (base, novel, repeat). Results: The results of comparisons for the three subject groups and the three-time points showed that tNAA/tCho and tCr/tCho were statistically significant among the three subject groups in any of the three conditions. The dynamic temporal change measurements for the metabolites for each condition showed that Glx/tCho and Glu/tCho levels at the third visit increased significantly compared with in the first visit in the novel condition in the AD group. Conclusion: We found declines in tNAA/tCho and tCr/tCho in the aMCI and AD subjects with increasing disease severity, being highest in CN and lowest in AD. The Glx/tCho level increased temporally in the AD subjects after they took an acetylcholine esterase inhibitor. Therefore, Glx may be suitable to demonstrate functional recovery after treatment.

Prospects of Magnetic Resonance Spectroscopy in Mouse Models of Alzheimers Disease

2011 ◽  
Vol 7 (1) ◽  
pp. 80-87 ◽  
Author(s):  
Firat Kara ◽  
Niels Braakman ◽  
Mark A. van Buchem ◽  
Huub J. M. de Groot ◽  
A. Alia
Keyword(s):  
Magnetic Resonance ◽  
Magnetic Resonance Spectroscopy ◽  
Mouse Models ◽  
Resonance Spectroscopy ◽  
Alzheimers Disease

scholarly journals A case of primary central nervous system lymphoma mimic neuromyelitis optica

2020 ◽  
Vol 11 (1) ◽  
pp. 28-33
Author(s):  
Xixi Sheng ◽  
Mingwei Xu ◽  
Xia Li
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Magnetic Resonance ◽  
Neuromyelitis Optica ◽  
Central Nervous System Lymphoma ◽  
B Cell Lymphoma ◽  
Clinical Findings ◽  
Resonance Spectroscopy ◽  
Steroid Pulse ◽  
Positron Emission

AbstractPrimary central nervous system lymphoma (PCNSL) is rare. And the symptoms of PCNSL are atypical, it is extremely easy to be misdiagnosed as other diseases. However, early treatment is crucial which is requesting early diagnosis. We report a case of a 47-year-old man who was initially diagnosed as neuromyelitis optica (NMO) on the basis of clinical findings, slightly high Aquaporin4 (AQP4) (1:10) and high signals of magnetic resonance imaging. Though his symptoms progressively improved after steroid pulse treatment, but worse when steroid was decreased to 40 mg per day. We considered the patient should be diagnosed as PCNSL. After the examination of magnetic resonance spectroscopy (MRS) and positron emission tomography (PET), the results indicated PCNSL was most possible. Therefore we gave him stereotactic biopsy of deep of supratentorial, which showed non-Hodgkin malignant B-cell lymphoma.

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