2026-08-10T01:28:32Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/131792024-09-27T10:14:06Zcom_20.500.12105_19604com_20.500.12105_2051col_20.500.12105_19607
Repisalud
author
Burgos, Daniel F
author
Cusso, Lorena
author
Sanchez-Elexpuru, Gentzane
author
Calle, Daniel
author
Perpinya, Max Bautista
author
Desco, Manuel
author
Serratosa, Jose M
author
Sanchez, Marina P
funder
National Institutes of Health (Estados Unidos)
funder
Ministerio de Economía y Competitividad (España)
funder
Comunidad de Madrid (España)
funder
Ministerio de Ciencia e Innovación (España)
funder
Fundación ProCNIC
funder
Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF)
funder
Fundación Conchita Rábago de Jiménez Díaz
2021-06-23T08:04:25Z
2021-06-23T08:04:25Z
2020-10-20
Int J Mol Sci. 2020; 21(20):7771
10.3390/ijms21207771
1422-0067
International journal of molecular sciences
33092303
http://hdl.handle.net/20.500.12105/13179
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.
eng
Structural and Functional Brain Abnormalities in Mouse Models of Lafora Disease.
journal article
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