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

Acta Neuropathol. 2017 Nov;134(5):813-816. doi: 10.1007/s00401-017-1764-0. Epub 2017 Aug 21.

Authors

Nicholas T Olney¹, Carolina Alquezar¹, Eliana Marisa Ramos², Alissa L Nana¹, Jamie C Fong¹, Anna M Karydas¹, Joanne B Taylor¹, Melanie L Stephens¹, Andrea R Argouarch¹, Victoria A Van Berlo², Deepika R Dokuru², Elliott H Sherr³, Gregory A Jicha⁴, William P Dillon⁵, Rahul S Desikan⁵, Mary De May¹, William W Seeley¹, Giovanni Coppola², Bruce L Miller¹, Aimee W Kao⁶

Affiliations

¹ Department of Neurology, Memory and Aging Center, University of California, Box 1207, San Francisco, CA, 94158, USA.
² Department of Neurology and Department of Psychiatry, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA, 90095, USA.
³ Department of Neurology and Pediatrics, University of California, San Francisco, CA, 94158, USA.
⁴ Department of Neurology, Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY, 40536, USA.
⁵ Department of Radiology, University of California, San Francisco, CA, 94158, USA.
⁶ Department of Neurology, Memory and Aging Center, University of California, Box 1207, San Francisco, CA, 94158, USA. aimee.kao@ucsf.edu.

No abstract available

Publication types

Case Reports
Letter
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Frontotemporal Dementia / genetics*
Frontotemporal Dementia / metabolism
Frontotemporal Dementia / pathology
Humans
Male
Middle Aged
Mutation*
Signal Transduction / physiology*
TOR Serine-Threonine Kinases / metabolism*
Tuberous Sclerosis / genetics*
Tuberous Sclerosis / metabolism
Tuberous Sclerosis / pathology
Tuberous Sclerosis Complex 1 Protein
Tumor Suppressor Proteins / genetics*
Tumor Suppressor Proteins / metabolism

Substances

TSC1 protein, human
Tuberous Sclerosis Complex 1 Protein
Tumor Suppressor Proteins
TOR Serine-Threonine Kinases

Grants and funding