2023
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts
Kundishora A, Allington G, McGee S, Mekbib K, Gainullin V, Timberlake A, Nelson-Williams C, Kiziltug E, Smith H, Ocken J, Shohfi J, Allocco A, Duy P, Elsamadicy A, Dong W, Zhao S, Wang Y, Qureshi H, DiLuna M, Mane S, Tikhonova I, Fu P, Castaldi C, López-Giráldez F, Knight J, Furey C, Carter B, Haider S, Moreno-De-Luca A, Alper S, Gunel M, Millan F, Lifton R, Torene R, Jin S, Kahle K. Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts. Nature Medicine 2023, 29: 667-678. PMID: 36879130, DOI: 10.1038/s41591-023-02238-2.Peer-Reviewed Original ResearchConceptsArachnoid cystCerebral arachnoid cystsDe novo variantsAC pathogenesisDevelopmental brain lesionsStructural brain diseaseAppropriate clinical contextPatients' medical recordsDamaging de novo variantsMedical recordsClinical severityBrain lesionsHealthy individualsAC subtypesBrain diseasesGenetic testingNeurodevelopmental pathologyClinical contextPathogenesisPatient phenotypesNeurodevelopmental programsNovo variantsRNA sequencing transcriptomeHuman brainCysts
2022
Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis
Qureshi H, Mekbib K, Allington G, Elsamadicy A, Duy P, Kundishora A, Jin S, Kahle K. Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis. Cerebral Cortex 2022, 33: 3012-3025. PMID: 35851401, PMCID: PMC10388392, DOI: 10.1093/cercor/bhac257.Peer-Reviewed Original ResearchConceptsArachnoid cystAC pathogenesisGenetic factorsSpace-occupying lesionsCommon space-occupying lesionsChudley-McCullough syndromePrimary ciliary dyskinesiaClinical managementPerplexing lesionsDisease pathogenesisCiliary dyskinesiaAcrocallosal syndromeFamilial formsSyndromePathogenesisSyndromic formsNeurodevelopmental phenotypesCausative genesMendelian syndromesLesionsSignificant subsetHuman brainCystsMost casesAC formation
2020
MRI-Guided Laser Interstitial Thermal Therapy for Radiation Necrosis in Previously Irradiated Brain Arteriovenous Malformations
Hong CS, Cord BJ, Kundishora AJ, Elsamadicy AA, Beckta JM, Huttner A, Chiang VL, Matouk CC. MRI-Guided Laser Interstitial Thermal Therapy for Radiation Necrosis in Previously Irradiated Brain Arteriovenous Malformations. Practical Radiation Oncology 2020, 10: e298-e303. PMID: 32068154, DOI: 10.1016/j.prro.2020.02.003.Peer-Reviewed Original Research