2021
Transcriptional signatures of synaptic vesicle genes define myotonic dystrophy type I neurodegeneration
Jimenez‐Marin A, Diez I, Labayru G, Sistiaga A, Caballero M, Andres‐Benito P, Sepulcre J, Ferrer I, de Munain A, Cortes J. Transcriptional signatures of synaptic vesicle genes define myotonic dystrophy type I neurodegeneration. Neuropathology And Applied Neurobiology 2021, 47: 1092-1108. PMID: 33955002, PMCID: PMC9292638, DOI: 10.1111/nan.12725.Peer-Reviewed Original ResearchMeSH KeywordsAdultAlzheimer DiseaseBrainCentral Nervous SystemDystrophinFemaleHumansMaleMiddle AgedMyotonic DystrophySynaptic VesiclesTau ProteinsConceptsMicrotubule-associated protein tauAllen Human Brain AtlasRNA analysisSynaptic vesicle recyclingSynaptic vesicle genesHypothesis-driven genesGene clusterDopamine neurotransmitter pathwaysVesicle recyclingProtein tauTranscriptome mapTranscriptome interactionsTau pathologyMyotonic dystrophy type IBrain degenerationBiological processesGenesHuman Brain AtlasAlzheimer's diseaseTranscriptional signatureNeurobiological mechanismsCognitive functionAlpha-synucleinNeurotransmitter pathwaysRNA
2020
Neurodegeneration trajectory in pediatric and adult/late DM1: A follow‐up MRI study across a decade
Labayru G, Jimenez‐Marin A, Fernández E, Villanua J, Zulaica M, Cortes J, Díez I, Sepulcre J, de Munain A, Sistiaga A. Neurodegeneration trajectory in pediatric and adult/late DM1: A follow‐up MRI study across a decade. Annals Of Clinical And Translational Neurology 2020, 7: 1802-1815. PMID: 32881379, PMCID: PMC7545612, DOI: 10.1002/acn3.51163.Peer-Reviewed Original ResearchConceptsVoxel Based MorphometryHealthy controlsFronto-subcortical networksPatterns of brain atrophyMultimodal integration networkExecutive function testsBrain structural abnormalitiesRegional brain volumesGM damageDM1 patientsNeuropsychological testsNeurodevelopmental originBrain changesPediatric onset patientsGM lossFrontal regionsVBM analysisWM volumeBrain abnormalitiesBrain volumeCognitive outcomesFollow-up MRI studiesHC groupYoung adulthoodImpairment assessment
2019
Regional brain atrophy in gray and white matter is associated with cognitive impairment in Myotonic Dystrophy type 1
Labayru G, Diez I, Sepulcre J, Fernández E, Zulaica M, Cortés J, de Munain A, Sistiaga A. Regional brain atrophy in gray and white matter is associated with cognitive impairment in Myotonic Dystrophy type 1. NeuroImage Clinical 2019, 24: 102078. PMID: 31795042, PMCID: PMC6861566, DOI: 10.1016/j.nicl.2019.102078.Peer-Reviewed Original ResearchConceptsGlobal gray matterDiffusion tensor imagingCTG expansion sizeSubcortical regionsWhite matter lesionsMyotonic dystrophy type 1Fractional anisotropyStructural brain signaturesBrain atrophyAssociated with cognitive impairmentStructural cerebral changesAssociation cortical regionsDegree of muscular impairmentMicrostructural WM abnormalitiesVoxel Based MorphometryWhite matterHealthy controlsDM1 patientsRegional brain atrophyType 1Global white matterIQ estimatesNeuropsychological profileGM reductionNeuropsychological scores