Salvatore Spina, MD, PhD

Assistant Professor
+1 415 476-6880
Fields of Interest: 

Dr. Spina received his medical degree from the University of Catania, Italy. He completed a neurology residency at the University of Siena, Italy from which he also obtained his doctorate degree on mechanisms of neurodegeneration. He was trained in neuropathology of dementia syndromes at the Indiana Alzheimer Disease Center, Indianapolis in the laboratory of Dr. Bernardino Ghetti. Later, he completed an internship in internal medicine and a neurology residency at Indiana University. Dr. Spina’s research focuses on the clinicopathologic and genetic correlations in neurodegenerative dementia syndromes, with a special interest on frontotemporal lobar degeneration.

Publications: 

Comorbid neuropathological diagnoses in early versus late-onset Alzheimer's disease.

Brain : a journal of neurology

Spina S, La Joie R, Petersen C, Nolan AL, Cuevas D, Cosme C, Hepker M, Hwang JH, Miller ZA, Huang EJ, Karydas AM, Grant H, Boxer AL, Gorno-Tempini ML, Rosen HJ, Kramer JH, Miller BL, Seeley WW, Rabinovici GD, Grinberg LT

Patterns of neuronal Rhes as a novel hallmark of tauopathies.

Acta neuropathologica

Ehrenberg AJ, Leng K, Letourneau KN, Hernandez I, Lew C, Seeley WW, Spina S, Miller B, Heinsen H, Kampmann M, Kosik KS, Grinberg LT

Diagnostic Utility of Measuring Cerebral Atrophy in the Behavioral Variant of Frontotemporal Dementia and Association With Clinical Deterioration.

JAMA network open

Illán-Gala I, Falgàs N, Friedberg A, Castro-Suárez S, Keret O, Rogers N, Oz D, Nigro S, Quattrone A, Quattrone A, Wolf A, Younes K, Santos-Santos M, Borrego-Écija S, Cobigo Y, Dols-Icardo O, Lladó A, Sánchez-Valle R, Clarimon J, Blesa R, Alcolea D, Fortea J, Lleó A, Grinberg LT, Spina S, Kramer JH, Rabinovici GD, Boxer A, Gorno Tempini ML, Miller BL, Seeley WW, Rosen HJ, Perry DC

Psychosis in neurodegenerative disease: differential patterns of hallucination and delusion symptoms.

Brain : a journal of neurology

Naasan G, Shdo SM, Rodriguez EM, Spina S, Grinberg L, Lopez L, Karydas A, Seeley WW, Miller BL, Rankin KP

Molecular characterization of selectively vulnerable neurons in Alzheimer's disease.

Nature neuroscience

Leng K, Li E, Eser R, Piergies A, Sit R, Tan M, Neff N, Li SH, Rodriguez RD, Suemoto CK, Leite REP, Ehrenberg AJ, Pasqualucci CA, Seeley WW, Spina S, Heinsen H, Grinberg LT, Kampmann M

A novel temporal-predominant neuro-astroglial tauopathy associated with TMEM106B gene polymorphism in FTLD/ALS-TDP.

Brain pathology (Zurich, Switzerland)

Llibre-Guerra JJ, Lee SE, Suemoto CK, Ehrenberg AJ, Kovacs GG, Karydas A, Staffaroni A, De Paula Franca Resende E, Kim EJ, Hwang JH, Ramos EM, Wojta KJ, Pasquini L, Pang SY, Spina S, Allen IE, Kramer J, Miller BL, Seeley WW, Grinberg LT

Diagnostic Accuracy of Amyloid versus FDG PET in Autopsy-Confirmed Dementia.

Annals of neurology

Lesman-Segev OH, La Joie R, Iaccarino L, Lobach I, Rosen HJ, Seo SW, Janabi M, Baker SL, Edwards L, Pham J, Olichney J, Boxer A, Huang E, Gorno-Tempini M, DeCarli C, Hepker M, Hwang JL, Miller BL, Spina S, Grinberg LT, Seeley WW, Jagust WJ, Rabinovici GD

18F-flortaucipir PET to autopsy comparisons in Alzheimer's disease and other neurodegenerative diseases.

Brain : a journal of neurology

Soleimani-Meigooni DN, Iaccarino L, La Joie R, Baker S, Bourakova V, Boxer AL, Edwards L, Eser R, Gorno-Tempini ML, Jagust WJ, Janabi M, Kramer JH, Lesman-Segev OH, Mellinger T, Miller BL, Pham J, Rosen HJ, Spina S, Seeley WW, Strom A, Grinberg LT, Rabinovici GD

Brain volumetric deficits in MAPT mutation carriers: a multisite study.

Annals of clinical and translational neurology

Chu SA, Flagan TM, Staffaroni AM, Jiskoot LC, Deng J, Spina S, Zhang L, Sturm VE, Yokoyama JS, Seeley WW, Papma JM, Geschwind DH, Rosen HJ, Boeve BF, Boxer AL, Heuer HW, Forsberg LK, Brushaber DE, Grossman M, Coppola G, Dickerson BC, Bordelon YM, Faber K, Feldman HH, Fields JA, Fong JC, Foroud T, Gavrilova RH, Ghoshal N, Graff-Radford NR, Hsiung GR, Huey ED, Irwin DJ, Kantarci K, Kaufer DI, Karydas AM, Knopman DS, Kornak J, Kramer JH, Kukull WA, Lapid MI, Litvan I, Mackenzie IRA, Mendez MF, Miller BL, Onyike CU, Pantelyat AY, Rademakers R, Marisa Ramos E, Roberson ED, Carmela Tartaglia M, Tatton NA, Toga AW, Vetor A, Weintraub S, Wong B, Wszolek ZK

Elevated levels of extracellular vesicles in progranulin-deficient mice and FTD-GRN Patients.

Annals of clinical and translational neurology

Arrant AE, Davis SE, Vollmer RM, Murchison CF, Mobley JA, Nana AL, Spina S, Grinberg LT, Karydas AM, Miller BL, Seeley WW, Roberson ED

Plasma tau and neurofilament light in frontotemporal lobar degeneration and Alzheimer's disease.

Neurology

Illán-Gala I, Lleo A, Karydas A, Staffaroni AM, Zetterberg H, Sivasankaran R, Grinberg LT, Spina S, Kramer J, Ramos EM, Coppola G, La Joie R, Rabinovici GD, Perry DC, Gorno-Tempini ML, Seeley W, Miller BL, Rosen HJ, Blennow K, Boxer AL, Rojas JC

Salience Network Atrophy Links Neuron Type-Specific Pathobiology to Loss of Empathy in Frontotemporal Dementia.

Cerebral cortex (New York, N.Y. : 1991)

Pasquini L, Nana AL, Toller G, Brown JA, Deng J, Staffaroni A, Kim EJ, Hwang JL, Li L, Park Y, Gaus SE, Allen I, Sturm VE, Spina S, Grinberg LT, Rankin KP, Kramer JH, Rosen HJ, Miller BL, Seeley WW

Regional and hemispheric susceptibility of the temporal lobe to FTLD-TDP type C pathology.

NeuroImage. Clinical

Borghesani V, Battistella G, Mandelli ML, Welch A, Weis E, Younes K, Neuhaus J, Grinberg LT, Seeley WM, Spina S, Miller B, Miller Z, Gorno-Tempini ML

Comparison of Amyloid in Cerebrospinal Fluid, Brain Imaging, and Autopsy in a Case of Progressive Supranuclear Palsy.

Alzheimer disease and associated disorders

Kim KH, Seo JD, Kim ES, Kim HS, Jeon S, Pak K, Lee MJ, Lee JH, Lee YM, Lee K, Shin JH, Ko JK, Jung NY, Lee JM, Yoon JA, Hwang C, Ahn JW, Sung S, Spina S, Seeley WW, Choi KU, Huh GY, Kim EJ

Tau Positron Emission Tomographic Findings in a Former US Football Player With Pathologically Confirmed Chronic Traumatic Encephalopathy.

JAMA neurology

Mantyh WG, Spina S, Lee A, Iaccarino L, Soleimani-Meigooni D, Tsoy E, Mellinger TJ, Grant H, Vandevrede L, La Joie R, Lesman-Segev O, Gaus S, Possin KL, Grinberg LT, Miller BL, Seeley WW, Rabinovici GD

Diagnostic value of plasma phosphorylated tau181 in Alzheimer's disease and frontotemporal lobar degeneration.

Nature medicine

Thijssen EH, La Joie R, Wolf A, Strom A, Wang P, Iaccarino L, Bourakova V, Cobigo Y, Heuer H, Spina S, VandeVrede L, Chai X, Proctor NK, Airey DC, Shcherbinin S, Duggan Evans C, Sims JR, Zetterberg H, Blennow K, Karydas AM, Teunissen CE, Kramer JH, Grinberg LT, Seeley WW, Rosen H, Boeve BF, Miller BL, Rabinovici GD, Dage JL, Rojas JC, Boxer AL

Language and spatial dysfunction in Alzheimer disease with white matter thorn-shaped astrocytes.

Neurology

Resende EPF, Nolan AL, Petersen C, Ehrenberg AJ, Spina S, Allen IE, Rosen HJ, Kramer J, Miller BL, Seeley WW, Gorno-Tempini ML, Miller Z, Grinberg LT

Correction to: 4-Repeat tau seeds and templating subtypes as brain and CSF biomarkers of frontotemporal lobar degeneration.

Acta neuropathologica

Saijo E, Metrick MA, Koga S, Parchi P, Litvan I, Spina S, Boxer A, Rojas JC, Galasko D, Kraus A, Rossi M, Newell K, Zanusso G, Grinberg LT, Seeley WW, Ghetti B, Dickson DW, Caughey B

Impaired ß-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations.

Acta neuropathologica communications

Arrant AE, Roth JR, Boyle NR, Kashyap SN, Hoffmann MQ, Murchison CF, Ramos EM, Nana AL, Spina S, Grinberg LT, Miller BL, Seeley WW, Roberson ED

Astrocytic Tau Deposition Is Frequent in Typical and Atypical Alzheimer Disease Presentations.

Journal of neuropathology and experimental neurology

Nolan A, De Paula Franca Resende E, Petersen C, Neylan K, Spina S, Huang E, Seeley W, Miller Z, Grinberg LT

Cortical developmental abnormalities in logopenic variant primary progressive aphasia with dyslexia.

Brain Communications

Miller ZA, Spina S, Pakvasa M, Rosenberg L, Watson C, Mandelli ML, Paredes MF, Joie R, Rabinovici GD, Rosen HJ, Grinberg LT, Huang EJ, Miller BL, Seeley WW, Gorno-Tempini ML

Preferential tau aggregation in von Economo neurons and fork cells in frontotemporal lobar degeneration with specific MAPT variants.

Acta neuropathologica communications

Lin LC, Nana AL, Hepker M, Hwang JL, Gaus SE, Spina S, Cosme CG, Gan L, Grinberg LT, Geschwind DH, Coppola G, Rosen HJ, Miller BL, Seeley WW

A Comprehensive Resource for Induced Pluripotent Stem Cells from Patients with Primary Tauopathies.

Stem cell reports

Karch CM, Kao AW, Karydas A, Onanuga K, Martinez R, Argouarch A, Wang C, Huang C, Sohn PD, Bowles KR, Spina S, Silva MC, Marsh JA, Hsu S, Pugh DA, Ghoshal N, Norton J, Huang Y, Lee SE, Seeley WW, Theofilas P, Grinberg LT, Moreno F, McIlroy K, Boeve BF, Cairns NJ, Crary JF, Haggarty SJ, Ichida JK, Kosik KS, Miller BL, Gan L, Goate AM, Temple S

4-Repeat tau seeds and templating subtypes as brain and CSF biomarkers of frontotemporal lobar degeneration.

Acta neuropathologica

Saijo E, Metrick MA, Koga S, Parchi P, Litvan I, Spina S, Boxer A, Rojas JC, Galasko D, Kraus A, Rossi M, Newell K, Zanusso G, Grinberg LT, Seeley WW, Ghetti B, Dickson DW, Caughey B

Patient-Tailored, Connectivity-Based Forecasts of Spreading Brain Atrophy.

Neuron

Brown JA, Deng J, Neuhaus J, Sible IJ, Sias AC, Lee SE, Kornak J, Marx GA, Karydas AM, Spina S, Grinberg LT, Coppola G, Geschwind DH, Kramer JH, Gorno-Tempini ML, Miller BL, Rosen HJ, Seeley WW

Evidence of corticofugal tau spreading in patients with frontotemporal dementia.

Acta neuropathologica

Kim EJ, Hwang JL, Gaus SE, Nana AL, Deng J, Brown JA, Spina S, Lee MJ, Ramos EM, Grinberg LT, Kramer JH, Boxer AL, Gorno-Tempini ML, Rosen HJ, Miller BL, Seeley WW

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aß, tau, immunity and lipid processing.

Nature genetics

Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin H, Fairchild TJ, Benito YA, Holmes C, Karamujic-Comic H, Frosch MP, Thonberg H, Maier W, Roshchupkin G, Ghetti B, Giedraitis V, Kawalia A, Li S, Huebinger RM, Kilander L, Moebus S, Hernández I, Kamboh MI, Brundin R, Turton J, Yang Q, Katz MJ, Concari L, Lord J, Beiser AS, Keene CD, Helisalmi S, Kloszewska I, Kukull WA, Koivisto AM, Lynch A, Tarraga L, Larson EB, Haapasalo A, Lawlor B, Mosley TH, Lipton RB, Solfrizzi V, Gill M, Longstreth WT, Montine TJ, Frisardi V, Diez-Fairen M, Rivadeneira F, Petersen RC, Deramecourt V, Alvarez I, Salani F, Ciaramella A, Boerwinkle E, Reiman EM, Fievet N, Rotter JI, Reisch JS, Hanon O, Cupidi C, Uitterlinden AGA, Royall DR, Dufouil C, Maletta RG, de Rojas I, Sano M, Brice A, Cecchetti R, George-Hyslop PS, Ritchie K, Tsolaki M, Tsuang DW, Dubois B, Craig D, Wu CK, Soininen H, Avramidou D, Albin RL, Fratiglioni L, Germanou A, Apostolova LG, Keller L, Koutroumani M, Arnold SE, Panza F, Gkatzima O, Asthana S, Hannequin D, Whitehead P, Atwood CS, Caffarra P, Hampel H, Quintela I, Carracedo Á, Lannfelt L, Rubinsztein DC, Barnes LL, Pasquier F, Frölich L, Barral S, McGuinness B, Beach TG, Johnston JA, Becker JT, Passmore P, Bigio EH, Schott JM, Bird TD, Warren JD, Boeve BF, Lupton MK, Bowen JD, Proitsi P, Boxer A, Powell JF, Burke JR, Kauwe JSK, Burns JM, Mancuso M, Buxbaum JD, Bonuccelli U, Cairns NJ, McQuillin A, Cao C, Livingston G, Carlson CS, Bass NJ, Carlsson CM, Hardy J, Carney RM, Bras J, Carrasquillo MM, Guerreiro R, Allen M, Chui HC, Fisher E, Masullo C, Crocco EA, DeCarli C, Bisceglio G, Dick M, Ma L, Duara R, Graff-Radford NR, Evans DA, Hodges A, Faber KM, Scherer M, Fallon KB, Riemenschneider M, Fardo DW, Heun R, Farlow MR, Kölsch H, Ferris S, Leber M, Foroud TM, Heuser I, Galasko DR, Giegling I, Gearing M, Hüll M, Geschwind DH, Gilbert JR, Morris J, Green RC, Mayo K, Growdon JH, Feulner T, Hamilton RL, Harrell LE, Drichel D, Honig LS, Cushion TD, Huentelman MJ, Hollingworth P, Hulette CM, Hyman BT, Marshall R, Jarvik GP, Meggy A, Abner E, Menzies GE, Jin LW, Leonenko G, Real LM, Jun GR, Baldwin CT, Grozeva D, Karydas A, Russo G, Kaye JA, Kim R, Jessen F, Kowall NW, Vellas B, Kramer JH, Vardy E, LaFerla FM, Jöckel KH, Lah JJ, Dichgans M, Leverenz JB, Mann D, Levey AI, Pickering-Brown S, Lieberman AP, Klopp N, Lunetta KL, Wichmann HE, Lyketsos CG, Morgan K, Marson DC, Brown K, Martiniuk F, Medway C, Mash DC, Nöthen MM, Masliah E, Hooper NM, McCormick WC, Daniele A, McCurry SM, Bayer A, McDavid AN, Gallacher J, McKee AC, van den Bussche H, Mesulam M, Brayne C, Miller BL, Riedel-Heller S, Miller CA, Miller JW, Al-Chalabi A, Morris JC, Shaw CE, Myers AJ, Wiltfang J, O'Bryant S, Olichney JM, Alvarez V, Parisi JE, Singleton AB, Paulson HL, Collinge J, Perry WR, Mead S, Peskind E, Cribbs DH, Rossor M, Pierce A, Ryan NS, Poon WW, Nacmias B, Potter H, Sorbi S, et al

Profound degeneration of wake-promoting neurons in Alzheimer's disease.

Alzheimer's & dementia : the journal of the Alzheimer's Association

Oh J, Eser RA, Ehrenberg AJ, Morales D, Petersen C, Kudlacek J, Dunlop SR, Theofilas P, Resende EDPF, Cosme C, Alho EJL, Spina S, Walsh CM, Miller BL, Seeley WW, Bittencourt JC, Neylan TC, Heinsen H, Grinberg LT

Neuropathological correlates of structural and functional imaging biomarkers in 4-repeat tauopathies.

Brain : a journal of neurology

Spina S, Brown JA, Deng J, Gardner RC, Nana AL, Hwang JL, Gaus SE, Huang EJ, Kramer JH, Rosen HJ, Kornak J, Neuhaus J, Miller BL, Grinberg LT, Boxer AL, Seeley WW

Alzheimer's disease clinical variants show distinct regional patterns of neurofibrillary tangle accumulation.

Acta neuropathologica

Petersen C, Nolan AL, de Paula França Resende E, Miller Z, Ehrenberg AJ, Gorno-Tempini ML, Rosen HJ, Kramer JH, Spina S, Rabinovici GD, Miller BL, Seeley WW, Heinsen H, Grinberg LT

Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aß, tau, immunity and lipid processing.

Nature genetics

Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin H, Fairchild TJ, Benito YA, Holmes C, Karamujic-Comic H, Frosch MP, Thonberg H, Maier W, Roschupkin G, Ghetti B, Giedraitis V, Kawalia A, Li S, Huebinger RM, Kilander L, Moebus S, Hernández I, Kamboh MI, Brundin R, Turton J, Yang Q, Katz MJ, Concari L, Lord J, Beiser AS, Keene CD, Helisalmi S, Kloszewska I, Kukull WA, Koivisto AM, Lynch A, Tarraga L, Larson EB, Haapasalo A, Lawlor B, Mosley TH, Lipton RB, Solfrizzi V, Gill M, Longstreth WT, Montine TJ, Frisardi V, Diez-Fairen M, Rivadeneira F, Petersen RC, Deramecourt V, Alvarez I, Salani F, Ciaramella A, Boerwinkle E, Reiman EM, Fievet N, Rotter JI, Reisch JS, Hanon O, Cupidi C, Andre Uitterlinden AG, Royall DR, Dufouil C, Maletta RG, de Rojas I, Sano M, Brice A, Cecchetti R, George-Hyslop PS, Ritchie K, Tsolaki M, Tsuang DW, Dubois B, Craig D, Wu CK, Soininen H, Avramidou D, Albin RL, Fratiglioni L, Germanou A, Apostolova LG, Keller L, Koutroumani M, Arnold SE, Panza F, Gkatzima O, Asthana S, Hannequin D, Whitehead P, Atwood CS, Caffarra P, Hampel H, Quintela I, Carracedo Á, Lannfelt L, Rubinsztein DC, Barnes LL, Pasquier F, Frölich L, Barral S, McGuinness B, Beach TG, Johnston JA, Becker JT, Passmore P, Bigio EH, Schott JM, Bird TD, Warren JD, Boeve BF, Lupton MK, Bowen JD, Proitsi P, Boxer A, Powell JF, Burke JR, Kauwe JSK, Burns JM, Mancuso M, Buxbaum JD, Bonuccelli U, Cairns NJ, McQuillin A, Cao C, Livingston G, Carlson CS, Bass NJ, Carlsson CM, Hardy J, Carney RM, Bras J, Carrasquillo MM, Guerreiro R, Allen M, Chui HC, Fisher E, Masullo C, Crocco EA, DeCarli C, Bisceglio G, Dick M, Ma L, Duara R, Graff-Radford NR, Evans DA, Hodges A, Faber KM, Scherer M, Fallon KB, Riemenschneider M, Fardo DW, Heun R, Farlow MR, Kölsch H, Ferris S, Leber M, Foroud TM, Heuser I, Galasko DR, Giegling I, Gearing M, Hüll M, Geschwind DH, Gilbert JR, Morris J, Green RC, Mayo K, Growdon JH, Feulner T, Hamilton RL, Harrell LE, Drichel D, Honig LS, Cushion TD, Huentelman MJ, Hollingworth P, Hulette CM, Hyman BT, Marshall R, Jarvik GP, Meggy A, Abner E, Menzies GE, Jin LW, Leonenko G, Real LM, Jun GR, Baldwin CT, Grozeva D, Karydas A, Russo G, Kaye JA, Kim R, Jessen F, Kowall NW, Vellas B, Kramer JH, Vardy E, LaFerla FM, Jöckel KH, Lah JJ, Dichgans M, Leverenz JB, Mann D, Levey AI, Pickering-Brown S, Lieberman AP, Klopp N, Lunetta KL, Wichmann HE, Lyketsos CG, Morgan K, Marson DC, Brown K, Martiniuk F, Medway C, Mash DC, Nöthen MM, Masliah E, Hooper NM, McCormick WC, Daniele A, McCurry SM, Bayer A, McDavid AN, Gallacher J, McKee AC, van den Bussche H, Mesulam M, Brayne C, Miller BL, Riedel-Heller S, Miller CA, Miller JW, Al-Chalabi A, Morris JC, Shaw CE, Myers AJ, Wiltfang J, O'Bryant S, Olichney JM, Alvarez V, Parisi JE, Singleton AB, Paulson HL, Collinge J, Perry WR, Mead S, Peskind E, Cribbs DH, Rossor M, Pierce A, Ryan NS, Poon WW, Nacmias B, Potter H, Sorbi S, et al

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.

Acta neuropathologica

Pottier C, Ren Y, Perkerson RB, Baker M, Jenkins GD, van Blitterswijk M, DeJesus-Hernandez M, van Rooij JGJ, Murray ME, Christopher E, McDonnell SK, Fogarty Z, Batzler A, Tian S, Vicente CT, Matchett B, Karydas AM, Hsiung GR, Seelaar H, Mol MO, Finger EC, Graff C, Öijerstedt L, Neumann M, Heutink P, Synofzik M, Wilke C, Prudlo J, Rizzu P, Simon-Sanchez J, Edbauer D, Roeber S, Diehl-Schmid J, Evers BM, King A, Mesulam MM, Weintraub S, Geula C, Bieniek KF, Petrucelli L, Ahern GL, Reiman EM, Woodruff BK, Caselli RJ, Huey ED, Farlow MR, Grafman J, Mead S, Grinberg LT, Spina S, Grossman M, Irwin DJ, Lee EB, Suh E, Snowden J, Mann D, Ertekin-Taner N, Uitti RJ, Wszolek ZK, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Hodges JR, Piguet O, Geier EG, Yokoyama JS, Rissman RA, Rogaeva E, Keith J, Zinman L, Tartaglia MC, Cairns NJ, Cruchaga C, Ghetti B, Kofler J, Lopez OL, Beach TG, Arzberger T, Herms J, Honig LS, Vonsattel JP, Halliday GM, Kwok JB, White CL, Gearing M, Glass J, Rollinson S, Pickering-Brown S, Rohrer JD, Trojanowski JQ, Van Deerlin V, Bigio EH, Troakes C, Al-Sarraj S, Asmann Y, Miller BL, Graff-Radford NR, Boeve BF, Seeley WW, Mackenzie IRA, van Swieten JC, Dickson DW, Biernacka JM, Rademakers R

Longitudinal multimodal imaging and clinical endpoints for frontotemporal dementia clinical trials.

Brain : a journal of neurology

Staffaroni AM, Ljubenkov PA, Kornak J, Cobigo Y, Datta S, Marx G, Walters SM, Chiang K, Olney N, Elahi FM, Knopman DS, Dickerson BC, Boeve BF, Gorno-Tempini ML, Spina S, Grinberg LT, Seeley WW, Miller BL, Kramer JH, Boxer AL, Rosen HJ

18F-flortaucipir (AV-1451) tau PET in frontotemporal dementia syndromes.

Alzheimer's research & therapy

Tsai RM, Bejanin A, Lesman-Segev O, LaJoie R, Visani A, Bourakova V, O'Neil JP, Janabi M, Baker S, Lee SE, Perry DC, Bajorek L, Karydas A, Spina S, Grinberg LT, Seeley WW, Ramos EM, Coppola G, Gorno-Tempini ML, Miller BL, Rosen HJ, Jagust W, Boxer AL, Rabinovici GD

FDG-PET patterns associated with underlying pathology in corticobasal syndrome.

Neurology

Pardini M, Huey ED, Spina S, Kreisl WC, Morbelli S, Wassermann EM, Nobili F, Ghetti B, Grafman J

Multiple system atrophy prions retain strain specificity after serial propagation in two different Tg(SNCA*A53T) mouse lines.

Acta neuropathologica

Woerman AL, Oehler A, Kazmi SA, Lee J, Halliday GM, Middleton LT, Gentleman SM, Mordes DA, Spina S, Grinberg LT, Olson SH, Prusiner SB

Primary progressive aphasia and the FTD-MND spectrum disorders: clinical, pathological, and neuroimaging correlates.

Amyotrophic lateral sclerosis & frontotemporal degeneration

Vinceti G, Olney N, Mandelli ML, Spina S, Hubbard HI, Santos-Santos MA, Watson C, Miller ZA, Lomen-Hoerth C, Nichelli P, Miller BL, Grinberg LT, Seeley WW, Gorno-Tempini ML

Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia.

Acta neuropathologica

Geier EG, Bourdenx M, Storm NJ, Cochran JN, Sirkis DW, Hwang JH, Bonham LW, Ramos EM, Diaz A, Van Berlo V, Dokuru D, Nana AL, Karydas A, Balestra ME, Huang Y, Russo SP, Spina S, Grinberg LT, Seeley WW, Myers RM, Miller BL, Coppola G, Lee SE, Cuervo AM, Yokoyama JS

Multisite study of the relationships between antemortem [11C]PIB-PET Centiloid values and postmortem measures of Alzheimer's disease neuropathology.

Alzheimer's & dementia : the journal of the Alzheimer's Association

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Journal of neurology

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18 F-flortaucipir tau positron emission tomography distinguishes established progressive supranuclear palsy from controls and Parkinson disease: A multicenter study.

Annals of neurology

Schonhaut DR, McMillan CT, Spina S, Dickerson BC, Siderowf A, Devous MD, Tsai R, Winer J, Russell DS, Litvan I, Roberson ED, Seeley WW, Grinberg LT, Kramer JH, Miller BL, Pressman P, Nasrallah I, Baker SL, Gomperts SN, Johnson KA, Grossman M, Jagust WJ, Boxer AL, Rabinovici GD

ApoE4 markedly exacerbates tau-mediated neurodegeneration in a mouse model of tauopathy.

Nature

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NeuroImage. Clinical

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Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.

Nature genetics

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JAMA neurology

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American journal of neurodegenerative disease

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JAMA neurology

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Neurology

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European journal of neurology

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Neurology

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Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.

Nature genetics

Rademakers R, Baker M, Nicholson AM, Rutherford NJ, Finch N, Soto-Ortolaza A, Lash J, Wider C, Wojtas A, DeJesus-Hernandez M, Adamson J, Kouri N, Sundal C, Shuster EA, Aasly J, MacKenzie J, Roeber S, Kretzschmar HA, Boeve BF, Knopman DS, Petersen RC, Cairns NJ, Ghetti B, Spina S, Garbern J, Tselis AC, Uitti R, Das P, Van Gerpen JA, Meschia JF, Levy S, Broderick DF, Graff-Radford N, Ross OA, Miller BB, Swerdlow RH, Dickson DW, Wszolek ZK

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.

Nature genetics

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Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration.

Archives of neurology

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Rapidly progressive atypical parkinsonism associated with frontotemporal lobar degeneration and motor neuron disease.

Journal of neurology, neurosurgery, and psychiatry

Espay AJ, Spina S, Houghton DJ, Murrell JR, de Courten-Myers GM, Ghetti B, Litvan I

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.

Nature genetics

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Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update.

Acta neuropathologica

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Association of ideomotor apraxia with frontal gray matter volume loss in corticobasal syndrome.

Archives of neurology

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TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea.

Movement disorders : official journal of the Movement Disorder Society

Kovacs GG, Murrell JR, Horvath S, Haraszti L, Majtenyi K, Molnar MJ, Budka H, Ghetti B, Spina S

Failure to detect the presence of prions in the uterine and gestational tissues from a Gravida with Creutzfeldt-Jakob disease.

The American journal of pathology

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Histopathological and molecular heterogeneity among individuals with dementia associated with Presenilin mutations.

Molecular neurodegeneration

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White matter tauopathy with globular glial inclusions: a distinct sporadic frontotemporal lobar degeneration.

Journal of neuropathology and experimental neurology

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In vivo and postmortem clinicoanatomical correlations in frontotemporal dementia and parkinsonism linked to chromosome 17.

Neuro-degenerative diseases

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The tauopathy associated with mutation +3 in intron 10 of Tau: characterization of the MSTD family.

Brain : a journal of neurology

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Journal of neuropathology and experimental neurology

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Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.

The Lancet. Neurology

Rademakers R, Baker M, Gass J, Adamson J, Huey ED, Momeni P, Spina S, Coppola G, Karydas AM, Stewart H, Johnson N, Hsiung GY, Kelley B, Kuntz K, Steinbart E, Wood EM, Yu CE, Josephs K, Sorenson E, Womack KB, Weintraub S, Pickering-Brown SM, Schofield PR, Brooks WS, Van Deerlin VM, Snowden J, Clark CM, Kertesz A, Boylan K, Ghetti B, Neary D, Schellenberg GD, Beach TG, Mesulam M, Mann D, Grafman J, Mackenzie IR, Feldman H, Bird T, Petersen R, Knopman D, Boeve B, Geschwind DH, Miller B, Wszolek Z, Lippa C, Bigio EH, Dickson D, Graff-Radford N, Hutton M

Clinicopathologic features of frontotemporal dementia with progranulin sequence variation.

Neurology

Spina S, Murrell JR, Huey ED, Wassermann EM, Pietrini P, Baraibar MA, Barbeito AG, Troncoso JC, Vidal R, Ghetti B, Grafman J

The novel Tau mutation G335S: clinical, neuropathological and molecular characterization.

Acta neuropathologica

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Characteristics of frontotemporal dementia patients with a Progranulin mutation.

Annals of neurology

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Aberrantly regulated proteins in frontotemporal dementia.

Biochemical and biophysical research communications

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La Radiologia medica

Manfredi R, Costamagna G, Vecchioli A, Colagrande C, Spina S, Marano P