Characterization of spastic paraplegia in a family with a novel PSEN1 mutation

John M. Ringman; Naghmeh Dorrani; Sara Gutirrez Fernández; Rebecca Signer; Julian Martinez-Agosto; Hane Lee; Emilie D. Douine; Yuchuan Qiao; Yonggang Shi; Lina D'Orazio; Sanjay Pawar; Leah Robbie; Amir H. Kashani; Maxwell Singer; Joshua T. Byers; Shino Magaki; Sam Guzman; Abhay Sagare; Berislav Zlokovic; Stephen Cederbaum; Stanley Nelson; Nasim Sheikh-Bahaei; Helena C. Chui; Lucía Chávez-Gutirrez; Harry V. Vinters

doi:10.1093/braincomms/fcad030

Characterization of spastic paraplegia in a family with a novel PSEN1 mutation

John M. Ringman, Naghmeh Dorrani, Sara Gutirrez Fernández, Rebecca Signer, Julian Martinez-Agosto, Hane Lee, Emilie D. Douine, Yuchuan Qiao, Yonggang Shi, Lina D'Orazio, Sanjay Pawar, Leah Robbie, Amir H. Kashani, Maxwell Singer, Joshua T. Byers, Shino Magaki, Sam Guzman, Abhay Sagare, Berislav Zlokovic, Stephen CederbaumStanley Nelson, Nasim Sheikh-Bahaei, Helena C. Chui, Lucía Chávez-Gutirrez, Harry V. Vinters

Pathology Division

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

Original language	English
Article number	fcad030
Journal	Brain Communications
Volume	5
Issue number	2
DOIs	https://doi.org/10.1093/braincomms/fcad030
State	Published - 2023

ASJC Scopus Subject Areas

Neurology
Psychiatry and Mental health
Biological Psychiatry
Cellular and Molecular Neuroscience

Keywords

F388S
PSEN1
diffusion tensor imaging
flortaucipir
spastic paraparesis

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10.1093/braincomms/fcad030

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Ringman, J. M., Dorrani, N., Fernández, S. G., Signer, R., Martinez-Agosto, J., Lee, H., Douine, E. D., Qiao, Y., Shi, Y., D'Orazio, L., Pawar, S., Robbie, L., Kashani, A. H., Singer, M., Byers, J. T., Magaki, S., Guzman, S., Sagare, A., Zlokovic, B., ... Vinters, H. V. (2023). Characterization of spastic paraplegia in a family with a novel PSEN1 mutation. Brain Communications, 5(2), Article fcad030. https://doi.org/10.1093/braincomms/fcad030

Ringman, JM, Dorrani, N, Fernández, SG, Signer, R, Martinez-Agosto, J, Lee, H, Douine, ED, Qiao, Y, Shi, Y, D'Orazio, L, Pawar, S, Robbie, L, Kashani, AH, Singer, M, Byers, JT, Magaki, S, Guzman, S, Sagare, A, Zlokovic, B, Cederbaum, S, Nelson, S, Sheikh-Bahaei, N, Chui, HC, Chávez-Gutirrez, L & Vinters, HV 2023, 'Characterization of spastic paraplegia in a family with a novel PSEN1 mutation', Brain Communications, vol. 5, no. 2, fcad030. https://doi.org/10.1093/braincomms/fcad030

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AU - Dorrani, Naghmeh

AU - Fernández, Sara Gutirrez

AU - Signer, Rebecca

AU - Martinez-Agosto, Julian

AU - Lee, Hane

AU - Douine, Emilie D.

AU - Qiao, Yuchuan

AU - Shi, Yonggang

AU - D'Orazio, Lina

AU - Pawar, Sanjay

AU - Robbie, Leah

AU - Kashani, Amir H.

AU - Singer, Maxwell

AU - Byers, Joshua T.

AU - Magaki, Shino

AU - Guzman, Sam

AU - Sagare, Abhay

AU - Zlokovic, Berislav

AU - Cederbaum, Stephen

AU - Nelson, Stanley

AU - Sheikh-Bahaei, Nasim

AU - Chui, Helena C.

AU - Chávez-Gutirrez, Lucía

AU - Vinters, Harry V.

PY - 2023

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KW - diffusion tensor imaging

KW - flortaucipir

KW - spastic paraparesis

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Characterization of spastic paraplegia in a family with a novel PSEN1 mutation

ASJC Scopus Subject Areas

Keywords

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