2021
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
Richard EM, Bakhtiari S, Marsh APL, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, Nordlie SM, Guida BS, Cornejo P, Magee H, Liu J, Norton BY, Webster RI, Worgan L, Hakonarson H, Li J, Guo Y, Jain M, Blesson A, Rodan LH, Abbott MA, Comi A, Cohen JS, Alhaddad B, Meitinger T, Lenz D, Ziegler A, Kotzaeridou U, Brunet T, Chassevent A, Smith-Hicks C, Ekstein J, Weiden T, Hahn A, Zharkinbekova N, Turnpenny P, Tucci A, Yelton M, Horvath R, Gungor S, Hiz S, Oktay Y, Lochmuller H, Zollino M, Morleo M, Marangi G, Nigro V, Torella A, Pinelli M, Amenta S, Husain RA, Grossmann B, Rapp M, Steen C, Marquardt I, Grimmel M, Grasshoff U, Korenke GC, Owczarek-Lipska M, Neidhardt J, Radio FC, Mancini C, Claps Sepulveda DJ, McWalter K, Begtrup A, Crunk A, Guillen Sacoto MJ, Person R, Schnur RE, Mancardi MM, Kreuder F, Striano P, Zara F, Chung WK, Marks WA, van Eyk CL, Webber DL, Corbett MA, Harper K, Berry JG, MacLennan AH, Gecz J, Tartaglia M, Salpietro V, Christodoulou J, Kaslin J, Padilla-Lopez S, Bilguvar K, Munchau A, Ahmed ZM, Hufnagel RB, Fahey MC, Maroofian R, Houlden H, Sticht H, Mane SM, Rad A, Vona B, Jin SC, Haack TB, Makowski C, Hirsch Y, Riazuddin S, Kruer MC. Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. American Journal Of Human Genetics 2021, 108: 2006-2016. PMID: 34626583, PMCID: PMC8546233, DOI: 10.1016/j.ajhg.2021.08.003.Peer-Reviewed Original ResearchConceptsSensorineural hearing lossCerebral palsyHearing lossBi-allelic variantsInner earRodent inner earDevelopmental delay/intellectual disabilityThin corpus callosumGlial cell nucleiIntellectual disabilityRat hippocampal neuronsWhite matter volumeNeurosensory hair cellsPeriventricular leukomalaciaQuantitative volumetryCerebral volumeCorpus callosumHippocampal neuronsMatter volumeReceptor functionBrain imagingHair cellsProminent expressionNeurodevelopmental phenotypesAffected individualsBiallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
Wiessner M, Maroofian R, Ni MY, Pedroni A, Müller JS, Stucka R, Beetz C, Efthymiou S, Santorelli FM, Alfares AA, Zhu C, Meszarosova A, Alehabib E, Bakhtiari S, Janecke AR, Otero MG, Chen JYH, Peterson JT, Strom TM, De Jonghe P, Deconinck T, De Ridder W, De Winter J, Pasquariello R, Ricca I, Alfadhel M, van de Warrenburg BP, Portier R, Bergmann C, Firouzabadi S, Jin SC, Bilguvar K, Hamed S, Abdelhameed M, Haridy NA, Maqbool S, Rahman F, Anwar N, Carmichael J, Pagnamenta A, Wood NW, Mau-Them F, Haack T, Consortium P, Di Rocco M, Ceccherini I, Iacomino M, Zara F, Salpietro V, Scala M, Rusmini M, Xu Y, Wang Y, Suzuki Y, Koh K, Nan H, Ishiura H, Tsuji S, Lambert L, Schmitt E, Lacaze E, Küpper H, Dredge D, Skraban C, Goldstein A, Willis M, Grand K, Graham J, Lewis R, Millan F, Duman Ö, Dündar N, Uyanik G, Schöls L, Nürnberg P, Nürnberg G, Bordes A, Seeman P, Kuchar M, Darvish H, Rebelo A, Bouçanova F, Medard J, Chrast R, Auer-Grumbach M, Alkuraya F, Shamseldin H, Al Tala S, Varaghchi J, Najafi M, Deschner S, Gläser D, Hüttel W, Kruer M, Kamsteeg E, Takiyama Y, Züchner S, Baets J, Synofzik M, Schüle R, Horvath R, Houlden H, Bartesaghi L, Lee H, Ampatzis K, Pierson T, Senderek J. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. Brain 2021, 144: 1422-1434. PMID: 33970200, PMCID: PMC8219359, DOI: 10.1093/brain/awab041.Peer-Reviewed Original ResearchConceptsHereditary spastic paraplegiaPure hereditary spastic paraplegiaGlobal developmental delaySpastic paraplegiaNervous systemNeurological diseasesComplicated hereditary spastic paraplegiaDevelopmental delayAbnormal motor behaviorRespiratory decompensationSpastic tetraplegiaNeurological manifestationsTruncating changesMissense substitutionsBiallelic variantsParaplegiaMotor behaviorDiseaseNeural differentiationUnknown specificityHuman diseasesMitochondrial diseaseDecompensationSpasticityTetraplegia
2008
Therapeutic efficacy of SJA6017, a calpain inhibitor, in rat spinal cord injury
Akdemir O, Uçankale M, Karaoğlan A, Barut Ş, Sağmanligil A, Bilguvar K, Çirakoğlu B, Şahan E, Çolak A. Therapeutic efficacy of SJA6017, a calpain inhibitor, in rat spinal cord injury. Journal Of Clinical Neuroscience 2008, 15: 1130-1136. PMID: 18656362, DOI: 10.1016/j.jocn.2007.08.011.Peer-Reviewed Original ResearchConceptsSpinal cord injuryGroup 3 ratsCord injuryRat spinal cord injury modelGrading scaleRat spinal cord injurySpinal cord injury modelApoptotic cell deathSpinal cord traumaGroup 2 ratsFeasible therapeutic strategySpinal cord tissueWistar albino ratsNecrosis 24 hCell deathTarlov scoreModerate traumaCord traumaNeuroprotective effectsFunctional recoveryFunctional outcomeLimb functionNeurological performanceWidespread edemaInjury modelTherapeutic efficacy of Ac-DMQD-CHO, a caspase 3 inhibitor, for rat spinal cord injury
Akdemir O, Berksoy I, Karaoğlan A, Barut Ş, Bilguvar K, Çirakoğlu B, Şahan E, Çolak A. Therapeutic efficacy of Ac-DMQD-CHO, a caspase 3 inhibitor, for rat spinal cord injury. Journal Of Clinical Neuroscience 2008, 15: 672-678. PMID: 18378144, DOI: 10.1016/j.jocn.2007.06.014.Peer-Reviewed Original ResearchConceptsSpinal cord injuryCord injuryGroup 2Therapeutic efficacyRat spinal cord injuryDiffuse hemorrhagic necrosisSpinal cord traumaGroup 3 ratsPolymorphonuclear leukocyte infiltrationCaspase-3 inhibitorCord traumaFunctional recoveryLeukocyte infiltrationLight microscopy examinationHemorrhagic necrosisNeurologic performanceFunctional outcomeSpinal cordRat modelTraumatic injuryVascular thrombiTreatment responseGroup 3InjuryThoracic regionNeuroprotective effects of Ac.YVAD.cmk on experimental spinal cord injury in rats
Karaoğlan A, Kaya E, Akdemir O, Sağmanligil A, Bilguvar K, Çirakoğlu B, Şahan E, Erdoğan N, Barut Ş, Çolak A. Neuroprotective effects of Ac.YVAD.cmk on experimental spinal cord injury in rats. World Neurosurgery 2008, 69: 561-567. PMID: 18262241, DOI: 10.1016/j.surneu.2007.03.041.Peer-Reviewed Original Research