Linking tuberous sclerosis complex, excessive mTOR signaling, and age-related neurodegeneration: a new association between TSC1 mutation and frontotemporal dementia

Nicholas T. Olney; Carolina Alquezar; Eliana Marisa Ramos; Alissa L. Nana; Jamie C. Fong; Anna M. Karydas; Joanne B. Taylor; Melanie L. Stephens; Andrea R. Argouarch; Victoria A. Van Berlo; Deepika R. Dokuru; Elliott H. Sherr; Gregory A. Jicha; William P. Dillon; Rahul S. Desikan; Mary De May; William W. Seeley; Giovanni Coppola; Bruce L. Miller; Aimee W. Kao

doi:10.1007/s00401-017-1764-0

Linking tuberous sclerosis complex, excessive mTOR signaling, and age-related neurodegeneration: a new association between TSC1 mutation and frontotemporal dementia

Nicholas T. Olney, Carolina Alquezar, Eliana Marisa Ramos, Alissa L. Nana, Jamie C. Fong, Anna M. Karydas, Joanne B. Taylor, Melanie L. Stephens, Andrea R. Argouarch, Victoria A. Van Berlo, Deepika R. Dokuru, Elliott H. Sherr, Gregory A. Jicha, William P. Dillon, Rahul S. Desikan, Mary De May, William W. Seeley, Giovanni Coppola, Bruce L. Miller, Aimee W. Kao

Research output: Contribution to journal › Letter › peer-review

8 Scopus citations

Original language	English
Pages (from-to)	813-816
Number of pages	4
Journal	Acta Neuropathologica
Volume	134
Issue number	5
DOIs	https://doi.org/10.1007/s00401-017-1764-0
State	Published - Nov 1 2017

Bibliographical note

Funding Information:
Acknowledgements This work is supported by the Rainwater Tau Consortium and NIH/NIA (P50AG023501, P01AG019724, T32AG023481-11S1, and P50 AG1657303). Additional support was provided by the Ramón Areces Foundation (C.A.), the Paul G. Allen Family Foundation (A.W.K.), NIH/NIA RC1 AG035610 (G.C.), John Douglas French Alzheimer’s Foundation (G.C.), National Alzheimer’s Coordinating Center Junior Investigator Award (R.S.D.), ASNR Alzheimer’s Imaging Research Grant Program (R.S.D.), RSNA Resident Fellow grant (R.S.D.), and NIH/NIDA grant U24DA041123 (R.S.D.). We thank Thomas Pittman and William Markesbury from the University of Kentucky for sharing the pathological specimens. We thank the Tau Consortium Stem Cell group for technical advice and support.

ASJC Scopus subject areas

Pathology and Forensic Medicine
Clinical Neurology
Cellular and Molecular Neuroscience

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10.1007/s00401-017-1764-0

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Olney, N. T., Alquezar, C., Ramos, E. M., Nana, A. L., Fong, J. C., Karydas, A. M., Taylor, J. B., Stephens, M. L., Argouarch, A. R., Van Berlo, V. A., Dokuru, D. R., Sherr, E. H., Jicha, G. A., Dillon, W. P., Desikan, R. S., De May, M., Seeley, W. W., Coppola, G., Miller, B. L., & Kao, A. W. (2017). Linking tuberous sclerosis complex, excessive mTOR signaling, and age-related neurodegeneration: a new association between TSC1 mutation and frontotemporal dementia. Acta Neuropathologica, 134(5), 813-816. https://doi.org/10.1007/s00401-017-1764-0

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title = "Linking tuberous sclerosis complex, excessive mTOR signaling, and age-related neurodegeneration: a new association between TSC1 mutation and frontotemporal dementia",

author = "Olney, {Nicholas T.} and Carolina Alquezar and Ramos, {Eliana Marisa} and Nana, {Alissa L.} and Fong, {Jamie C.} and Karydas, {Anna M.} and Taylor, {Joanne B.} and Stephens, {Melanie L.} and Argouarch, {Andrea R.} and {Van Berlo}, {Victoria A.} and Dokuru, {Deepika R.} and Sherr, {Elliott H.} and Jicha, {Gregory A.} and Dillon, {William P.} and Desikan, {Rahul S.} and {De May}, Mary and Seeley, {William W.} and Giovanni Coppola and Miller, {Bruce L.} and Kao, {Aimee W.}",

note = "Funding Information: Acknowledgements This work is supported by the Rainwater Tau Consortium and NIH/NIA (P50AG023501, P01AG019724, T32AG023481-11S1, and P50 AG1657303). Additional support was provided by the Ram{\'o}n Areces Foundation (C.A.), the Paul G. Allen Family Foundation (A.W.K.), NIH/NIA RC1 AG035610 (G.C.), John Douglas French Alzheimer{\textquoteright}s Foundation (G.C.), National Alzheimer{\textquoteright}s Coordinating Center Junior Investigator Award (R.S.D.), ASNR Alzheimer{\textquoteright}s Imaging Research Grant Program (R.S.D.), RSNA Resident Fellow grant (R.S.D.), and NIH/NIDA grant U24DA041123 (R.S.D.). We thank Thomas Pittman and William Markesbury from the University of Kentucky for sharing the pathological specimens. We thank the Tau Consortium Stem Cell group for technical advice and support.",

year = "2017",

month = nov,

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doi = "10.1007/s00401-017-1764-0",

language = "English",

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Olney, NT, Alquezar, C, Ramos, EM, Nana, AL, Fong, JC, Karydas, AM, Taylor, JB, Stephens, ML, Argouarch, AR, Van Berlo, VA, Dokuru, DR, Sherr, EH, Jicha, GA, Dillon, WP, Desikan, RS, De May, M, Seeley, WW, Coppola, G, Miller, BL & Kao, AW 2017, 'Linking tuberous sclerosis complex, excessive mTOR signaling, and age-related neurodegeneration: a new association between TSC1 mutation and frontotemporal dementia', Acta Neuropathologica, vol. 134, no. 5, pp. 813-816. https://doi.org/10.1007/s00401-017-1764-0

Linking tuberous sclerosis complex, excessive mTOR signaling, and age-related neurodegeneration: a new association between TSC1 mutation and frontotemporal dementia. / Olney, Nicholas T.; Alquezar, Carolina; Ramos, Eliana Marisa et al.
In: Acta Neuropathologica, Vol. 134, No. 5, 01.11.2017, p. 813-816.

Research output: Contribution to journal › Letter › peer-review

TY - JOUR

T1 - Linking tuberous sclerosis complex, excessive mTOR signaling, and age-related neurodegeneration

T2 - a new association between TSC1 mutation and frontotemporal dementia

AU - Olney, Nicholas T.

AU - Alquezar, Carolina

AU - Ramos, Eliana Marisa

AU - Nana, Alissa L.

AU - Fong, Jamie C.

AU - Karydas, Anna M.

AU - Taylor, Joanne B.

AU - Stephens, Melanie L.

AU - Argouarch, Andrea R.

AU - Van Berlo, Victoria A.

AU - Dokuru, Deepika R.

AU - Sherr, Elliott H.

AU - Jicha, Gregory A.

AU - Dillon, William P.

AU - Desikan, Rahul S.

AU - De May, Mary

AU - Seeley, William W.

AU - Coppola, Giovanni

AU - Miller, Bruce L.

AU - Kao, Aimee W.

N1 - Funding Information: Acknowledgements This work is supported by the Rainwater Tau Consortium and NIH/NIA (P50AG023501, P01AG019724, T32AG023481-11S1, and P50 AG1657303). Additional support was provided by the Ramón Areces Foundation (C.A.), the Paul G. Allen Family Foundation (A.W.K.), NIH/NIA RC1 AG035610 (G.C.), John Douglas French Alzheimer’s Foundation (G.C.), National Alzheimer’s Coordinating Center Junior Investigator Award (R.S.D.), ASNR Alzheimer’s Imaging Research Grant Program (R.S.D.), RSNA Resident Fellow grant (R.S.D.), and NIH/NIDA grant U24DA041123 (R.S.D.). We thank Thomas Pittman and William Markesbury from the University of Kentucky for sharing the pathological specimens. We thank the Tau Consortium Stem Cell group for technical advice and support.

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SN - 0001-6322

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SP - 813

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JO - Acta Neuropathologica

JF - Acta Neuropathologica

IS - 5

ER -

Linking tuberous sclerosis complex, excessive mTOR signaling, and age-related neurodegeneration: a new association between TSC1 mutation and frontotemporal dementia

Bibliographical note

ASJC Scopus subject areas

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