Julia Kofler, MD
Assistant Professor of Pathology
Dr. Kofler is a member of the Division of Neuropathology.
S701.3 Scaife Hall
3550 Terrace Street
Pittsburgh, PA 15261
Office Telephone: 412-624-6353
- MD - University of Vienna, 1997
- Surgical neuropathology
- Autopsy neuropathology
- Ophthalmic pathology
- Neurodegenerative diseases
- Neuropathology core director of the University of Pittsburgh Alzheimer's disease research center (ADRC)
- Neuropathologist for the University of Pittsburgh ALS center
- CJD autopsy cases, in collaboration with the National Prion Disease Pathology Surveillance Center
Genome-wide association studies have recently identified several novel risk genes for late-onset Alzheimer's disease (AD). Using primary human microglial cultures, we discovered that many of these genes are expressed in microglial cells and may mediate their risk through alteration of inflammation-related pathways. We further identified that one of these risk genes, the MS4A4A/6A gene cluster, is differentially regulated by classical and alternative activation. We are now focused on identifying the biological function of these genes, hypothesizing that MS4A4A/6A may be involved in store-operated calcium entry, cell proliferation and interaction with cell surface receptors, and that some or all of these functions are impacted by genotype. In a related approach, we have begun to study the impact of polymorphisms in inflammation-associated genes on pathology patterns in Alzheimer's disease.
A more severe phenotype of AD is identified by the occurrence of psychosis. In a new project, we are aiming to identify the pathobiology underlying this phenotype by 1) comparing quantitatively the AD pathology disease burden between subjects with and without psychosis; 2) evaluating markers of synaptic dysfunction and loss in AD+P using a proteomics approach; and 3) by evaluating markers of inflammation in AD+P.
NIH ResearchView Dr. Kofler's NIH RePORT on nih.gov
Selected PublicationsView Dr. Kofler's publications on PubMed
- Bonneh-Barkay D, Bissel SJ, Kofler J, Starkey A, Wang G, Wiley CA. Astrocyte and macrophage regulation of YKL-40 expression and cellular response in neuroinflammation. Brain Pathol 2012;22:530-46 PMCID: PMC3557465.
- Kofler J, Lopresti B, Janssen C, Trichel AM, Masliah E, Finn OJ, Salter RD, Murdoch GH, Mathis CA, Wiley CA. Preventive immunization of aged and juvenile non-human primates to beta-amyloid. J Neuroinflammation 2012;9:84. PMCID: PMC3495408.
- Murray PS, Kirkwood CM, Gray MC, Ikonomovic MD, Paljug WR, Abrahamson EE, Henteleff RA, Hamilton RL, Kofler J, Klunk WE, Lopez OL, Penzes P, Sweet RA. β-Amyloid 42/40 ratio and kalirin expression in Alzheimer disease with psychosis. Neurobiol Aging 2012;33:2807-16. PMCID: PMC3381843.
- Spina S, Van Laar A, Murrell J, Hamilton R, Kofler J, Epperson F, Farlow M, Lopez O, Quinlan J, DeKosky S, Ghetti B. Phenotypic variability in three families with Valosin-Containing Protein mutation. Eur J Neurol 2013;20:251-8. PMCID: PMC3734548.
- Koutourousiou M, Gardner P, Fernandez-Miranda JC, Kofler J, Snyderman, Lunsford LD. Rare infundibular tumors: clinical presentation, imaging findings and the role of endoscopic endonasal surgery in their management. J Neurol Surg – Skull Base 2013;74:1-11.
- Venneti S, Madden ME, Coyne T, Phillips JJ, Gorovets D, Huse JT, Kofler J, Lu C, Tihan T, Sullivan LM, Santi M, Judkins AR, Perry A, Thompson CB. Histone 3 lysine 9 trimethylation (H3K9me3) is differentially associated with isocitrate dehydrogenase 1 (IDH1) R132H mutations in oligodendrogliomas and high-grade astrocytomas. J Neuropath Exp Neurol 2013;72:298-306. PMCID: PMC3615673.
- Murray PS, Kirkwood CM, Gray MC, Fish KN, Ikonomovic MD, Hamilton RL, Kofler JK, Klunk WE, Lopez OL, Sweet RA. Hyperphosphorylated tau is elevated in Alzheimer disease with psychosis. J Alz Dis 2014;39:759-73.
- Gallagher MD, Suh E, Grossman M, Elman L, McCluskey L, Van Swieten JC, Al-Sarraj S, Neumann M, Gelpi E, Ghetti B, Rohrer JD, Halliday G, Van Broekchoven C, Seilhean D, Shaw PJ, Frosch MP, International Collaboration for Frontotemporal Lobar Degeneration (Kofler J listed as collaborator), Trojanowski JQ, Lee VM, Van Deerlin V, Chen-Plotkin AS: TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions. Acta Neuropathologica 2014;127:407-18.
- Koppel J, Acker C, Davies P, Jimenez H, Lopez O, Azose M, Greenwald B, Murray P, Kirkwood C, Kofler J, Sweet R. Psychotic Alzheimer's disease is associated with gender-specific tau phosphorylation abnormalities. Neurobiology of Aging 2014;35:2012-8.
- Vatsavayi AV, Kofler J, Demichele-Sweet MA, Lopez OL, Sweet RA. TAR DNA-binding protein 43 pathology in Alzheimer's disease with psychosis. Int Psychogeriatr 2014 Mar 4:1-8.
- Beecham GW, Hamilton K, Naj AC, Martin ER, Huentelman M, Myers AJ, Corneveaux JJ, Hardy J, Vonsattel JP, Younkin SG, Bennett DA, De Jager PL, Larson EB, Crane PK, Kamboh MI, Kofler JK, Mash DC, Duque L, Gilbert JR, Gwirtsman H, Buxbaum JD, Kramer P, Dickson DW, Farrer LA, Frosch MP, Ghetti B, Haines JL, Hyman BT, Kukull WA, Mayeux RP, Pericak-Vance MA, Schneider JA, Trojanowski JQ, Reiman EM, the Alzheimer's Disease Genetics Consortium (ADGC), Schellenberg GD, Montine TJ. Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias. PLOS Genetics 2014 Sep 4;10(9):e1004606.
- Crary JF, Trojanowski JQ, Schneider JA, Abisambra JF, Abner EL, Alafuzoff I, Arnold SE, Attems J, Beach TG, Bigio EH, Cairns NJ, Dickson DW, Gearing M, Grinberg LT, Hof PR, Hyman BT, Jellinger K, Jicha GA, Kovacs GG, Knopman DS, Kofler J, Kukull WA, Mackenzie IR, Masliah E, McKee A, Montine TJ, Murray ME, Neltner JH, Santa-Maria I, Seeley WW, Serrano-Pozo A, Shelanski ML, Stein T, Takao M, Thal DR, Toledo JB, Troncoso JC, Vonsattel JP, White CL 3rd, Wisniewski T, Woltjer RL, Yamada M, Nelson PT. Primary age-related tauopathy (PART): a common pathology associated with human aging. Acta Neuropathol 2014;128:755-66.
- Nworgu C, Kofler J, Mettenburg J. A 70-year-old woman with left-sided weakness that developed several hours after aortic valve replacement surgery. American Journal of Neuroradiology, Clinical Correlation case January 2015 (web only).
- Degnan AJ, Maldjian C, Pantanowitz L, Kofler J. Rare case of a radiographically occult sacral lesion detected on MRI presenting with intractable back pain. British Journal of Radiology Case Report. 2015 (published online May, 2015). http://www.birpublications.org/doi/abs/10.1259/bjrcr.20150002.