FDG-PET assessment and metabolic patterns in Lafora disease.

AIM
To describe the pattern of brain glucose metabolism assessed by 18F-fluorodeoxyglucose positron emission tomography (FDG-PET) in LaFora disease (LD), a rare, deadly form of progressive myoclonus epilepsy is caused by biallelic mutations in EPM2A or NHLRC1.


We retrospectively included patients with confirmed LD genetic underwent FDG-PET scan called three Italian epilepsy center. FDG-PET images were evaluated both visually and using SPM12 software. subgroup analysis done on the basis of genetic and clinical features using SPM. In addition, we perform a systematic literature review of the DA case patients underwent FDG-PET assessment.

Eight Italy (3M / 5F, 3 EPM2A / 5 NHLRC1) underwent FDG-PET examination after an average of 6 years from the onset of illness (range 1- 12 year). All patients showed bilateral hypometabolic area, more widespread and pronounced in advanced disease stages. Most often, the area hypometabolic is temporal (8/8), parietal (7/8), and the frontal lobe (7/8), and thalamus (6/8). In three cases, FDG-PET was repeated after an average of 17 months (range 7-36 months) showed metabolic deteriorated compared with the initial assessment. SPM subgroup analysis found no significant difference based on genetics, but showed a more significant temporoparietal hypometabolism in patients with visual symptoms compared with those who did not.

In nine additional cases were identified from eight publications, FDG-PET showed a heterogeneous findings, ranging from diffuse decrease in brain glucose metabolism for mediocre examination in two cases.FDG-PET appears to be very sensitive to evaluate LD at each stage and can be correlated with the development of disease. Area glucose metabolism decreased in LD broad, often involving several cortical and subcortical regions, the thalamus, temporal, frontal, and parietal lobes of the most severely affected. Longitudinal prospective collaborative study is needed to validate our findings.

 FDG-PET assessment and metabolic patterns in Lafora disease.
FDG-PET assessment and metabolic patterns in Lafora disease.

Glia-Derived Reactive Neuroinflammation: Novel Hallmark in LaFora Progressive myoclonus epilepsy That Progress with the Age.

LaFora disease (LD) is a rare form, fatal progressive myoclonus epilepsy. The molecular basis of this devastating disease is still poorly understood, and no treatment is available yet, which leads to the death of a patient about 10 years from the onset of the first symptoms. The hallmark of LD is the accumulation of glycogen as late inclusion in the brain and peripheral tissues, as a consequence of altered glycogen homeostasis.

In addition, other determining factors in the pathophysiology of LD have been proposed, such as proteostasis disorders, with reduced autophagy, and oxidative stress, among others. In order to get a general idea of ​​the genes involved in the pathophysiology of LD, in this work, we have performed RNA-Seq transcriptome analysis of tissue around the brain of two mice models independent of the disease, namely Epm2a – / – and Epm2b – / – mice, the different time ages.

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DEIA1012 96T
EUR 533.00
Description: HAV-IgM ELISA is an enzyme-linked immunosorbent assay for qualitative determination of hepatitis A virus IgM-class antibodies in human serum or plasma samples. The assay is intended to be used in clinical laboratories for diagnosis and management of patients related to infection with hepatitis A virus.

Echinococcus IgM ELISA Kit

DEIA1096 96T
EUR 556.00
Description: For the qualitative determination of IgM class antibodies against Hydatid in serum.

HEV IgM ELISA Kit

DEIA1961 96T
EUR 690.00
Description: Enzyme Immunoassay (ELISA) for the determination of IgM antibodies to Hepatitis E Virus in human plasma and sera. The kit may be used for the follow-up of HEV-infected patients.

Adenovirus IgM ELISA Kit

DEIA311 96T
EUR 650.00
Description: The Adenovirus IgM Antibody ELISA Test Kit has been designed forthe the detection and the quantitative determination of specific IgM antibodies against Adenovirus in serum and plasma.

Brucella IgM ELISA Kit

DEIA322 96T
EUR 611.00
Description: The Brucella IgM Antibody ELISA Test Kit has been designed for the the detection and the quantitative determination of specific IgM antibodies against Brucella in serum and plasma.

Measles IgM ELISA Kit

DEIA361 96T
EUR 562.00
Description: The Measles IgM Antibody ELISA Test Kit has been designed for the the detection andthe quantitative determination of specific IgM antibodies against Measles in serum and plasma.

Our results provide strong evidence for three main facts: first, whether the model LD, we found a set of deregulated genes, most of them encoding mediators of the inflammatory response; secondly, there is progress with age in the appearance of inflammatory markers, ranging from the age of 3 months; and third, reactive glia are responsible for the expression of inflammatory genes. These results clearly indicate that the nerve inflammation is one of the most important features that should be considered in order to fully understand the pathophysiology of LD, and defines a reactive glia as a new therapeutic target in the disease.