2018
Identification of genetic risk factors in the Chinese population implicates a role of immune system in Alzheimer’s disease pathogenesis
Zhou X, Chen Y, Mok K, Zhao Q, Chen K, Chen Y, Hardy J, Li Y, Fu A, Guo Q, Ip N, Saykin A, Toga A, Borowski B, Ward C, DeCarli C, Mathis C, Jack C, Harvey D, Holtzman D, Jones D, Gessert D, Lilly E, Reiman E, Franklin E, Hefti F, Sorensen G, Jimenez G, Fillit H, Gunter J, Salazar J, Hsiao J, Morris J, Trojanowki J, Neu K, Kantarci K, Faber K, Harless K, Chen K, Nho K, Beckett L, Thal L, Thal L, Shaw L, Kuller L, Shen L, Hergesheimer L, Taylor-Reinwald L, Mesulam M, Korecka M, Raichle M, Carrillo M, Albert M, Senjem M, Bernstein M, Donohue M, Weiner M, Figurski M, Buckholtz N, Fox N, Cairns N, Schuff N, Foster N, Aisen P, Thompson P, Davies P, Snyder P, Snyder P, Vemuri P, Frank R, Koeppe R, Green R, Petersen R, Walter S, Paul S, Potkin S, Kim S, Foroud T, Montine T, Lee V, Jagust W, Potter W, Cabrera Y, Khachaturian Z, Fleisher A, Pierce A, Mintz A, Lerner A, Norbash A, Levey A, Rosen A, Smith A, Ulysse A, Budson A, Kertesz A, Oliver A, Hake A, Burke A, Sarrael A, Porsteinsson A, Lamb A, Lee A, Raj B, Lane B, Yanez B, Ances B, Mudge B, Lind B, Stefanovic B, Goldstein B, Bonakdarpour B, Matthews B, Ott B, Reynolds B, Miller B, Spann B, Sadowsky C, Bernick C, Smith C, Onyike C, Heyn C, Hosein C, Leach C, Belden C, van Dyck C, Clark C, Wu C, Albers C, Brand C, Bodge C, Tatsuoka C, Carlsson C, Mathews D, D’Agostino D, Silverman D, Marson D, Wolk D, Bachman D, Clark D, Geldmacher D, Hart D, Knopman D, Perry D, Winkfield D, Miller D, Kerwin D, Drost D, Simpson D, Munic D, Scharre D, Bartha R, Celmins D, Zimmerman E, Teng E, Coleman E, Zamrini E, Mitsis E, Finger E, Oates E, Sosa E, Woo E, Rogalski E, Fletcher E, Parfitt F, Thai G, Marshall G, Conrad G, Tremont G, Bartzokis G, Hsiung G, Chiang G, Pearlson G, Jicha G, Vanderswag H, Grossman H, Capote H, Bergman H, Chertkow H, Feldman H, Rosen H, Koleva H, Shim H, Rachinsky I, Mintzer J, Ziolkowski J, Brewer J, Lah J, Singleton-Garvin J, Cellar J, Brosch J, Tinklenberg J, Karlawish J, Villanueva-Meyer J, Kaye J, Burns J, Petrella J, Yesavage J, Allard J, Lord J, Hetelle J, Brockington J, Morris J, Olichney J, Rogers J, Quinn J, Kass J, Taylor J, Heidebrink J, Anderson K, Blank K, Smith K, Bell K, Johnson K, Tingus K, DeMarco K, Sink K, Johnson K, Makino K, Spicer K, Nam K, Martin K, Poki-Walker K, Johnson K, Fargher K, Lipowski K, Womack K, Flashman L, Honig L, Apostolova L, Teodoro L, Silbert L, Ravdin L, Schneider L, Daiello L, Ismail M, Seltzer M, Mesulam M, Carroll M, Kataki M, Greig-Custo M, Love M, Mintun M, Farlow M, Sadowski M, Creech M, Hynes M, Quiceno M, Oakley M, Becerra M, Witbracht M, Keltz M, Lamar M, Yang M, Borrie M, Lin M, Assaly M, Rainka M, Dang M, Sheikh M, Gaikwad M, Chowdhury M, Trncic N, Johnson N, Kowalksi N, Pacini N, Kowall N, Graff-Radford N, Relkin N, Oyonumo N, Pomara N, James O, Ogunlana O, Lopez O, Carmichael O, Doraiswamy P, Fatica P, Johnson P, Samuels P, Malloy P, Ogrocki P, Maillard P, Hardy P, Tariot P, Lu P, Varma P, Doody R, Carter R, Shah R, Griffith R, Yeh R, Duara R, Tarawneh R, Turner R, Hernando R, Sperling R, Carson R, El Khouli R, Santulli R, Killiany R, Rodriguez R, Swerdlow R, Borges-Neto S, Black S, Weintraub S, Asthana S, Vaishnavi S, Dolen S, Mason S, Kremen S, Herring S, Sirrel S, Kittur S, Pawluczyk S, Schneider S, Kielb S, Reeder S, Correia S, Pasternack S, Pasternak S, Salloway S, Johnson S, Chao S, Arnold S, Schultz S, Rountree S, Lee T, Wong T, Villena T, Obisesan T, Pavlik V, Bates V, Sossi V, Shibley V, Brooks W, Pavlosky W, Stern Y, Simon A, Dongre A, Dean B, Navia B, Spellman D, Lee D, Shera D, Siemers E, Pickering E, Swenson F, Immerman F, Nomikos G, Soares H, Wan H, Seeburger J, Waring J, Trojanowski J, Siuciak J, Duffin K, Shaw L, Wang L, Thambisetty M, Walton M, Savage M, Ferm M, Kuhn M, Buckholtz N, Zagouras P, Cole P, Hendrickson R, Xie S, Allauzen S, Koroshetz W, Potter W. Identification of genetic risk factors in the Chinese population implicates a role of immune system in Alzheimer’s disease pathogenesis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2018, 115: 1697-1706. PMID: 29432188, PMCID: PMC5828602, DOI: 10.1073/pnas.1715554115.Peer-Reviewed Original ResearchConceptsAlzheimer's diseaseChinese populationAD subjectsDisease pathogenesisImmune systemPlasma biomarker levelsEarly disease onsetMinor allele carriersAlzheimer's disease (AD) pathogenesisGenetic risk factorsImmune-related pathwaysCommon variantsGenotype-phenotype analysisDisease onsetRisk factorsBiomarker levelsLeading causeOnset ageAllele carriersAD riskAD cohortPossible risk effectsFunctional effectsExpression levelsRegulatory effects
2012
Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases
van Rheenen W, van Blitterswijk M, Huisman M, Vlam L, van Doormaal P, Seelen M, Medic J, Dooijes D, de Visser M, van der Kooi A, Raaphorst J, Schelhaas H, van der Pol W, Veldink J, van den Berg L, Weiner M, Aisen P, Petersen R, Clifford R, Jagust W, Trojanowki J, Toga A, Beckett L, Green R, Saykin A, Morris J, Liu E, Montine T, Gamst A, Thomas R, Donohue M, Walter S, Gessert D, Sather T, Beckett L, Harvey D, Gamst A, Donohue M, Kornak J, Dale A, Bernstein M, Felmlee J, Fox N, Thompson P, Schuff N, Alexander G, DeCarli C, Bandy D, Koeppe R, Foster N, Reiman E, Chen K, Mathis C, Cairns N, Taylor-Reinwald L, Shaw L, Lee V, Korecka M, Crawford K, Neu S, Foroud T, Potkin S, Shen L, Kachaturian Z, Frank R, Snyder P, Kaye J, Dolen S, Quinn J, Schneider L, Pawluczyk S, Spann B, Brewer J, Vanderswag H, Heidebrink J, Lord J, Petersen R, Johnson K, S. Doody R, Villanueva-Meyer J, Chowdhury M, Stern Y, Honig L, Bell K, Morris J, Mintun M, Schneider S, Marson D, Griffith R, Clark D, Grossman H, Mitsis E, Romirowsky A, deToledo-Morrell L, Shah R, Duara R, Varon D, Roberts P, Albert M, Onyike C, Kielb S, Rusinek H, de Leon M, Glodzik L, Doraiswamy P, Petrella J, Arnold S, Karlawish J, Wolk D, Smith C, Jicha G, Hardy P, Lopez O, Oakley M, Simpson D, Ismail M, Brand C, Mulnard R, Thai G, Mc-Adams-Ortiz C, Diaz-Arrastia R, Martin-Cook K, DeVous M, Levey A, Lah J, Cellar J, Burns J, Anderson H, Swerdlow R, Bartzokis G, Silverman D, Lu P, Apostolova L, Graff-Radford N, Parfitt F, Johnson H, Farlow M, Herring S, Hake A, van Dyck C, Carson R, MacAvoy M, Chertkow H, Bergman H, Hosein C, Black S, Stefanovic B, Caldwell C, Hsiung G, Feldman H, Assaly M, Kertesz A, Rogers J, Trost D, Bernick C, Munic D, Wu C, Johnson N, Mesulam M, Sadowsky C, Martinez W, Villena T, Turner R, Johnson K, Reynolds B, Sperling R, Frey M, Johnson K, Rosen A, Tinklenberg J, Sabbagh M, Belden C, Jacobson S, Killiany R, Norbash A, Obisesan T, Wolday S, Bwayo S, Lerner A, Hudson L, Ogrocki P, DeCarli C, Fletcher E, Carmichael O, Kittur S, Borrie M, Lee T, Bartha R, Johnson S, Asthana S, Carlsson C, Potkin S, Preda A, Nguyen D, Tariot P, Fleisher A, Reeder S, Bates V, Capote H, Rainka M, Hendin B, Scharre D, Kataki M, Zimmerman E, Celmins D, Brown A, Pearlson G, Blank K, Anderson K, Saykin A, Santulli R, Schwartz E, Williamson J, Sink K, Watkins F, Ott B, Querfurth H, Tremont G, Salloway S, Malloy P, Correia S, Rosen H, Miller B, Mintzer J, Longmire C, Spicer K, Kwon S, Kim J, Cho K, Shin D, Ko Y, Lee S, Cha J, Kim Y, Shin D, Jang H, Choi N, Hong S, Rha J, Hong K, Kim E, Choi J, Sohn S, Shin W, HyukHeo S, Chung K, Park J, Lee J, Park J, Park T, Bae H, Han M, Kwon H, Lee K, Lee T, Jeong D, Lee J, Ashwal S, deVeber G, Ferriero D, Fullerton H, Ichord R, Kirkham F, Lynch J, O'Callaghan F, Pavlakis S, Sebire G, Willan A, Willan A, Sofronas M, Dlamini N, Elbers J, Nowak-Göttl U, Düring C, Krümpel A, Plumb P, Journeycake J, van de Bruinhorst K, Gossett D, Hernandez Chavez M, Monagle P, MacKay M, Barnes C, Furmedge J, Gordon A, Benedict S, Bale J, Nielson D, Abdalla A, Chadehumbe M, Kabbouche M, Karti P, Phillips T, Friedman N, Rizkallah E, Zamel K, Wiznitzer M, Lidsky K, Bernard T, Goldenberg N, Armstrong-Wells J, Booth F, Nash M, Beslow L, Carpenter J, Chang T, Weinstein S, Kan L, Smith R, Maytal J, Sy-Kho R, Yager J, Massicotte P, Ashwal S, McClure C, Bjornson B, Hukin J, Bucevska M, Kent S, Riviello J, Rivkin M, Trenor C, Amlie-Lefond C, Whelan H, Ferriero D, Fullerton H, Fox C, Pavlakis S, Goodman S, Levinson K, Kolk A, Laugesaar R, Talvik T, Imam H, Thomas T, Golomb M, Kirton A, Heyer G, Ganesan V, Saengpattrachai M, Crosswell H, Mancuso A, Tatishvili N, Yeh A, Humpherys P, Abraham L, Alveal L, Ortiz M, Altuna D, Maxit C, Gonzalez V, Alam M, Buckley D, Penney S, Jordan L, Grabowski E, Chan A, Deray M, Khatib Z, Kovacevic G, Kosofsky B, Leifer D, Nass R, Wong V, Catsman C, El-Hakam L, Sebire G, Cholette J, Narang S, Lerner N, Carpenter S, Bischoff K, Frei-Jones M, Masur D, Epstein L, Bagiella E, Hinton V, Gallentine W, Rende E, Provenzale J, Voyvodic J, Song A, Conklin T, O'Hara K, Seinfeld S, Conry J, Glauser T, Ayala J, Facchini R, Sigalova M, Hannigan J, Weiss E, Mancini A, Curran J, Ahlm S, Renaldi J, Umanzour D, Kim A, Hamidullah A, Litherland C, Bonner M, Xu Y, Van de Water V, Grasso S, Kushner D, Culbert J, Bush B, Chandrasekaran S, Davis L, Rogers C, Sabo C, Wang H, Noebels J. Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases. Neurology 2012, 79: 878-882. PMID: 22843265, DOI: 10.1212/wnl.0b013e3182661d14.Peer-Reviewed Original ResearchMeSH KeywordsAdultAge of OnsetAgedAged, 80 and overAmyotrophic Lateral SclerosisC9orf72 ProteinCohort StudiesConfidence IntervalsDementiaDNADNA Repeat ExpansionFemaleFrontotemporal Lobar DegenerationGenotypeHumansMaleMiddle AgedMotor Neuron DiseaseMuscular Atrophy, SpinalMutationParkinson DiseasePolymerase Chain ReactionProportional Hazards ModelsProteinsSurvivalYoung AdultConceptsProgressive muscular atrophyPrimary lateral sclerosisAmyotrophic lateral sclerosisSporadic amyotrophic lateral sclerosisParkinson's diseaseShorter survivalLateral sclerosisRelatives of patientsFamilial aggregationRepeat expansionHexanucleotide repeat expansionControl subjectsMotor neuronsLarge cohortPatientsMuscular atrophyGenetic testingEarly onsetMajor causeDementiaC9orf72SclerosisFALSEarly ageDutch descent
2000
White matter hyperintensity volume in late‐onset and early‐onset schizophrenia
Rivkin P, Kraut M, Barta P, Anthony J, Arria A, Pearlson G. White matter hyperintensity volume in late‐onset and early‐onset schizophrenia. International Journal Of Geriatric Psychiatry 2000, 15: 1085-1089. PMID: 11180463, DOI: 10.1002/1099-1166(200012)15:12<1085::aid-gps250>3.0.co;2-x.Peer-Reviewed Original ResearchConceptsWhite matter hyperintensitiesMagnetic resonance imagingWhite matter hyperintensity volumeLate-onset psychosisEarly-onset schizophreniaEarly-onset schizophrenicsNeuro-imaging studiesNeuro-degenerative processesControl subjectsCase ascertainmentOnset psychosisHyperintensity volumeMatter hyperintensitiesOnset schizophreniaWMH volumeAnatomic correlatesResonance imagingStudy designSchizophreniaSignificant differencesWMH measurementsPresent studySchizophrenicsContinuous measureLatent vulnerabilityMRI findings differentiate between late‐onset schizophrenia and late‐life mood disorder
Rabins P, Aylward E, Holroyd S, Pearlson G. MRI findings differentiate between late‐onset schizophrenia and late‐life mood disorder. International Journal Of Geriatric Psychiatry 2000, 15: 954-960. PMID: 11044878, DOI: 10.1002/1099-1166(200010)15:10<954::aid-gps224>3.0.co;2-o.Peer-Reviewed Original ResearchConceptsLate-onset schizophreniaLate-life bipolar disorderBilateral cortical atrophyLarger third ventriclesRight temporal hornLate-life mood disordersLate-life depressionDegree of atrophyNormal control groupGender-matched controlsFunctional imaging studiesSulcal enlargementCortical atrophyMRI findingsTemporal hornFunctional abnormalitiesSylvian fissureMood disordersThird ventricleOutpatient servicesMRI scansPatientsAffective disordersControl groupBipolar disorder
1997
Quantitative MRI volume changes in late onset schizophrenia and Alzheimer's disease compared to normal controls
Barta P, Powers R, Aylward E, Chase G, Harris G, Rabins P, Tune L, Pearlson G. Quantitative MRI volume changes in late onset schizophrenia and Alzheimer's disease compared to normal controls. Psychiatry Research 1997, 68: 65-75. PMID: 9104754, DOI: 10.1016/s0925-4927(96)02751-5.Peer-Reviewed Original ResearchMeSH KeywordsAge of OnsetAgedAlzheimer DiseaseBrainFemaleHumansMagnetic Resonance ImagingMaleMiddle AgedSchizophreniaConceptsMagnetic resonance imagingOnset schizophreniaAlzheimer's diseaseNormal controlsMRI volume changesLate-onset schizophreniaLateral temporal lobe structuresNon-cognitive symptomsModerate cognitive impairmentTemporal lobe structuresAnterior superior temporal gyrusNormal elderly controlsMedial temporal regionsSuperior temporal gyrusPatient groupSTG volumeAD patientsElderly controlsCognitive impairmentResonance imagingTemporal gyrusTemporal regionsPatientsLobe structuresDisease