Mutations in CSPP1 Lead to Classical Joubert Syndrome
Akizu N, Silhavy JL, Rosti RO, Scott E, Fenstermaker AG, Schroth J, Zaki MS, Sanchez H, Gupta N, Kabra M, Kara M, Ben-Omran T, Rosti B, Guemez-Gamboa A, Spencer E, Pan R, Cai N, Abdellateef M, Gabriel S, Halbritter J, Hildebrandt F, van Bokhoven H, Gunel M, Gleeson JG. Mutations in CSPP1 Lead to Classical Joubert Syndrome. American Journal Of Human Genetics 2013, 94: 80-86. PMID: 24360807, PMCID: PMC3882909, DOI: 10.1016/j.ajhg.2013.11.015.Peer-Reviewed Original ResearchConceptsJoubert syndromeDistinctive mid-hindbrain malformationMid-hindbrain malformationPrimary cilia dysfunctionPrimary ciliaKidney diseaseLarge cohortVariable involvementRelated disordersHuman neurogenesisNeural tissueProtein levelsAffected individualsSyndromeCilia dysfunctionCohortNeural-specific functionsCausative mutationsMutationsNull mutationCSPP1IndividualsCiliaDysfunctionJSRDVessel Wall Magnetic Resonance Imaging Identifies the Site of Rupture in Patients With Multiple Intracranial AneurysmsProof of Principle
Matouk CC, Mandell DM, Günel M, Bulsara KR, Malhotra A, Hebert R, Johnson MH, Mikulis DJ, Minja FJ. Vessel Wall Magnetic Resonance Imaging Identifies the Site of Rupture in Patients With Multiple Intracranial AneurysmsProof of Principle. Neurosurgery 2013, 72: 492-496. PMID: 23151622, DOI: 10.1227/neu.0b013e31827d1012.Peer-Reviewed Original ResearchConceptsAneurysmal subarachnoid hemorrhageSite of ruptureSubarachnoid hemorrhageMultiple intracranial aneurysmsMR-VWIHigh-resolution magnetic resonance vessel wall imagingIntracranial aneurysmsSteno-occlusive cerebrovascular diseaseVessel wall magnetic resonance imagingMR imaging findingsVessel wall enhancementMagnetic resonance vessel wall imagingMagnetic resonance imagingVessel wall imagingDefinitive treatmentCerebrovascular diseaseImaging findingsMedical recordsRuptured aneurysmsUnruptured aneurysmsPatientsAneurysmsWall enhancementResonance imagingRupture