DIAPH1 Variants in Non–East Asian Patients With Sporadic Moyamoya Disease
Kundishora AJ, Peters ST, Pinard A, Duran D, Panchagnula S, Barak T, Miyagishima DF, Dong W, Smith H, Ocken J, Dunbar A, Nelson-Williams C, Haider S, Walker RL, Li B, Zhao H, Thumkeo D, Marlier A, Duy PQ, Diab NS, Reeves BC, Robert SM, Sujijantarat N, Stratman AN, Chen YH, Zhao S, Roszko I, Lu Q, Zhang B, Mane S, Castaldi C, López-Giráldez F, Knight JR, Bamshad MJ, Nickerson DA, Geschwind DH, Chen SL, Storm PB, Diluna ML, Matouk CC, Orbach DB, Alper SL, Smith ER, Lifton RP, Gunel M, Milewicz DM, Jin SC, Kahle KT. DIAPH1 Variants in Non–East Asian Patients With Sporadic Moyamoya Disease. JAMA Neurology 2021, 78: 993-1003. PMID: 34125151, PMCID: PMC8204259, DOI: 10.1001/jamaneurol.2021.1681.Peer-Reviewed Original ResearchConceptsSporadic moyamoya diseaseMoyamoya diseaseValidation cohortDiscovery cohortIntracranial internal carotid arteryRisk genesBilateral moyamoya diseaseTransfusion-dependent thrombocytopeniaLarger validation cohortNon-East Asian patientsInternal carotid arteryAsian individualsCompound heterozygous variantsNon-East AsiansProgressive vasculopathyTransmitted variantsAsian patientsChildhood strokeMedical recordsCarotid arteryTherapeutic ramificationsMAIN OUTCOMEMouse brain tissuePatientsUS hospitalsIntraventricular CSF Turbulence in Pediatric Communicating Hydrocephalus
Duy PQ, Kahle KT. Intraventricular CSF Turbulence in Pediatric Communicating Hydrocephalus. Neurology 2021, 97: 246-247. PMID: 34031199, PMCID: PMC8589266, DOI: 10.1212/wnl.0000000000012237.Peer-Reviewed Original ResearchConceptsProgressive macrocephalyCSF turbulenceLower extremity motor functionDiffuse cortical atrophyExtremity motor functionMild neurocognitive impairmentCommunicating hydrocephalusVentriculoperitoneal shuntCortical atrophyIntracranial hemorrhagePhysical examinationPostoperative imagingComplete resolutionIntracranial pressureMotor functionHead circumferenceOpen myelomeningoceleNeurocognitive impairmentMild decreaseCSF flowVentriculomegalyMacrocephaly