Familial behavioral variant frontotemporal dementia associated with astrocyte-predominant tauopathy

Journal of Neuropathology and Experimental Neurology
Isidre FerrerGiovanni Coppola

Abstract

A familial behavioral variant frontotemporal dementia associated with astrocyte-predominant tauopathy is described in 2 sisters born from consanguineous parents. The neuropathologic examination revealed massive accumulation of abnormally hyperphosphorylated, conformational, truncated tau at aspartic acid 421, ubiquitinated and nitrated tau at Tyr29 in cortical astrocyte (including their perivascular foot processes), and Bergmann glia. Smaller amounts of abnormal tau were observed in neurons and rarely in oligodendrocytes. There was decreased expression of glial glutamate transporter in the majority of tau-positive astrocytes. Gel electrophoresis of sarkosyl-insoluble fractions showed 2 bands of 64 and 60 kDa and a doublet of 67 to 70 kDa (which are different from those seen in Alzheimer disease and in typical 4R and 3R tauopathies) together with several bands of lower molecular weight indicative of truncated tau. Analysis of the expression of MAPT isoforms further revealed altered splicing and representation of tau isoforms involving exons 2, 3, and 10. Genetic testing revealed no known mutations in PSEN1, PSEN2, APP, MAPT, GRN, FUS, and TARDBP and no pathologic expansion in C9ORF72. However, a novel rare heterozygous sequence ...Continue Reading

References

Feb 1, 1996·Journal of Neuropathology and Experimental Neurology·A DelacourteD Gauvreau
Jan 1, 1996·Acta Neuropathologica·V Buée ScherrerA Delacourte
Apr 15, 1997·Proceedings of the National Academy of Sciences of the United States of America·M G SpillantiniB Ghetti
May 4, 2004·Annals of Neurology·Bart DermautPeter Paul De Deyn
Dec 29, 2004·Annals of Neurology·Glenda M HallidayJillian J Kril
Apr 9, 2005·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Mark S FormanJohn Q Trojanowski
Jan 13, 2006·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Deepa V DabirMark S Forman
Jan 26, 2008·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·K CzarneckiK A Josephs
Feb 1, 2008·Brain : a Journal of Neurology·Isidro FerrerFred W van Leeuwen
Aug 12, 2009·Acta Neuropathologica·Manuela NeumannIan R A Mackenzie
Aug 14, 2009·Brain : a Journal of Neurology·Manuela NeumannIan R A Mackenzie
Oct 16, 2009·Acta Neuropathologica·David G MunozIan R Mackenzie
Feb 9, 2010·Neurobiology of Aging·Shiao-Lin LaiBryan J Traynor
Dec 17, 2010·Journal of Human Genetics·Véronique V BelzilGuy A Rouleau
Mar 26, 2011·Acta Neuropathologica·Gabor G KovacsHerbert Budka
Jul 2, 2011·Journal of Molecular Neuroscience : MN·Dennis W DicksonKeith A Josephs
Jul 26, 2011·Journal of Molecular Neuroscience : MN·Michel Goedert, Maria Grazia Spillantini
Nov 8, 2011·Neurobiology of Aging·William SprovieroFrancesca Luisa Conforti
Nov 8, 2011·Acta Neuropathologica·Juan F ReyesLester I Binder
Jun 20, 2012·EMBO Reports·Denise OrozcoDieter Edbauer
Sep 21, 2012·Neurocase·Marian Gómez BeldarrainJuan C Garcia-Monco
Mar 16, 2013·Brain Pathology·Miguel A RiudavetsRicardo F Allegri
Aug 27, 2013·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Denise Orozco, Dieter Edbauer
Sep 3, 2013·Acta Neuropathologica·Zeshan AhmedGabor G Kovacs
Dec 18, 2013·Journal of Neuropathology and Experimental Neurology·Isidre FerrerGabor G Kovacs
May 21, 2014·Nature Reviews. Neurology·Hao DengJoseph Jankovic

❮ Previous
Next ❯

Citations

Dec 15, 2015·Acta Neuropathologica·Gabor G KovacsDennis W Dickson
May 5, 2016·Neurobiology of Aging·John AlexanderGabor G Kovacs
Jul 6, 2016·Brain Pathology·Gabor G KovacsBeata Sikorska
Oct 26, 2016·Brain Research Bulletin·Thomas ArendtMax Holzer
Feb 18, 2016·Journal of Experimental Neuroscience·Martha A Kahlson, Kenneth J Colodner
Feb 6, 2018·Brain Pathology·Isidro FerrerJosé Antonio Del Rio
Aug 21, 2019·Neuropsychology Review·Yu ChenOlivier Piguet
May 19, 2018·Frontiers in Molecular Biosciences·Shinsuke Ishigaki, Gen Sobue
Aug 29, 2020·Acta Neuropathologica Communications·Masayoshi NakanoMari Yoshida
Nov 21, 2017·Journal of Alzheimer's Disease : JAD·Isidro Ferrer
Apr 25, 2020·Frontiers in Aging Neuroscience·Gabor G Kovacs
Aug 10, 2020·Brain : a Journal of Neurology·Shinsuke IshigakiGen Sobue
Aug 15, 2017·Brain Pathology·Gabor G KovacsJohn Q Trojanowski
Feb 28, 2019·Acta Neuropathologica Communications·Yingjian YouCristian A Lasagna-Reeves
Jan 15, 2019·International Journal of Neural Systems·Vesna VuksanovićClaude M Wischik
Dec 3, 2020·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Sigrid KlotzGabor G Kovacs
Dec 18, 2020·Frontiers in Neurology·Michael J StrongKathryn Volkening
Sep 16, 2020·Neuron·Garam KimAaron D Gitler
Mar 18, 2021·Neuropathology and Applied Neurobiology·Ellen GelpiIsidre Ferrer
Aug 31, 2021·Brain Communications·Martina BocchettaJonathan D Rohrer

❮ Previous
Next ❯

Related Concepts

Related Feeds

Alzheimer's Disease: Tau & TDP-43

Alzheimer's disease is a neurodegenerative disease. This feed focuses on the underlying role of tau proteins and TAR DNA-binding protein 43, as well as other genetic factors, in Alzheimer's disease.

Astrocytes

Astrocytes are glial cells that support the blood-brain barrier, facilitate neurotransmission, provide nutrients to neurons, and help repair damaged nervous tissues. Here is the latest research.

Blood Brain Barrier

The blood brain barrier is a border that separates blood from cerebrospinal fluid. Discover the latest search on this highly selective semipermeable membrane here.

Researcher Network:CZI Neurodegeneration Challenge

The Neurodegeneration Challenge Network aims to provide funding for and to bring together researchers studying neurodegenerative diseases. Find the latest research from the NDCN grantees here.

Alzheimer's Disease: Amyloid Beta

Alzheimer's disease is a neurodegenerative disease associated with the accumulation of amyloid plaques in the brain; these plaques are comprised of amyloid beta deposits. Here is the latest research in this field.

ALS & FTD: TDP-43

TAR DNA-binding protein 43 (TDP-43) is a pathological protein identified in sporadic Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD). Here are the latest discoveries pertaining to TDP-43 and these diseases.

Alzheimer's Disease: APP

Amyloid precursor protein (APP) proteolysis is critical for the development of Alzheimer's disease, a neurodegenerative disease associated with accumulation of amyloid plaques in the brain. Here is the latest research on APP and Alzheimer's disease.

Astrocytes & Amyloid

Astrocytes are thought to play a role in amyloid production and have been implicated in neurodegenerative diseases such as Alzheimer’s disease. Here is the latest research on the relationship between astrocytes and amyloid.