2024
Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics
DeSpenza T, Singh A, Allington G, Zhao S, Lee J, Kiziltug E, Prina M, Desmet N, Dang H, Fields J, Nelson-Williams C, Zhang J, Mekbib K, Dennis E, Mehta N, Duy P, Shimelis H, Walsh L, Marlier A, Deniz E, Lake E, Constable R, Hoffman E, Lifton R, Gulledge A, Fiering S, Moreno-De-Luca A, Haider S, Alper S, Jin S, Kahle K, Luikart B. Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics. Proceedings Of The National Academy Of Sciences Of The United States Of America 2024, 121: e2314702121. PMID: 38916997, PMCID: PMC11228466, DOI: 10.1073/pnas.2314702121.Peer-Reviewed Original ResearchConceptsCongenital hydrocephalusCerebral ventriculomegalyPathogenic variantsPrefrontal pyramidal neuronsGenetic subsets of patientsDevelopment of ventriculomegalyRadial gliaSubsets of patientsHigh-frequency firingNeuronal connectivityHeterozygous germline variantsAutism spectrum disorderVentricular-subventricular zoneMicrotubule dynamicsImpaired spermatogenesisCSF shuntingExcitatory driveMicrotubule-severing ATPasePyramidal neuronsDisrupt neuronal connectivityGermline variantsVentriculomegalyCSF homeostasisDisrupt microtubule dynamicsPlanar cell polarity
2023
Autism spectrum disorder-specific changes in white matter connectome edge density based on functionally defined nodes
Weber C, Lake E, Haider S, Mozayan A, Bobba P, Mukherjee P, Scheinost D, Constable R, Ment L, Payabvash S. Autism spectrum disorder-specific changes in white matter connectome edge density based on functionally defined nodes. Frontiers In Neuroscience 2023, 17: 1285396. PMID: 38075286, PMCID: PMC10702224, DOI: 10.3389/fnins.2023.1285396.Peer-Reviewed Original ResearchWhite matterPositive symptom correlationAutism spectrum disorderSymptom severity scoresBetween-group differencesAbnormal connectivity patternsCortical nodesVoxel-wise analysisDiffusion tensor imagingSeverity scoreWM fiber tractsSymptom correlationClinical dataConnectome disruptionConnectome changesEarly changesCortical regionsInfantsED reductionWM disruptionDisorder-specific changesTensor imagingFunctional imagingFiber tractsProbabilistic tractography
2022
Age-associated White Matter Microstructure and Connectome Abnormalities in Autism Spectrum Disorder
Weber C, Haider S, Mukherjee P, Lake E, Scheinost D, Bamford N, Ment L, Constable T, Payabvash S. Age-associated White Matter Microstructure and Connectome Abnormalities in Autism Spectrum Disorder. Proceedings Of The International Society For Magnetic Resonance In Medicine ... Scientific Meeting And Exhibition. 2022 DOI: 10.58530/2022/2100.Peer-Reviewed Original ResearchAutism spectrum disorder