aFTLD-U GOLGA8A
Provisional New
Disease ID
aFTLD-U
Gene ID
GOLGA8A
Updated
May 14, 2026
v2.20.0
Clinical Links
DECIPHER
GOLGA8A
Bioinformatical Links
TR Explorer
chr15:34419426-34419451
Suggest Edit

Disease
Name
Atypical frontotemporal lobar degeneration with ubiquitinated inclusions (aFTLD-U)
Inheritance
Description
Behavioral variant frontotemporal dementia with TAF15/FUS/EWSR1 positive inclusions
Prevalence
Rare FTLD-FET subtype (~5–10% of FTLD); however prevalence estimates are challenging because diagnosis typically requires neuropathology at autopsy1 .
Age of Onset(Typical)Years21  6530  50
Age of Onset Details
30-50

Locus
hg19
chr15:34711626-34711652
hg38
chr15:34419425-34419451
t2t
chr15:null-null
Details
Variation in repeat length, motif length, and motif sequence, with long CT-dimer expansions strongly associated with aFTLD-U risk. Although the functional consequence of this repeat remains unknown, its presence in nearly 60% of aFTLD-U cases points to a fundamental role in disease pathogenesis1 .
Year
20261
Gene Strand

Alleles
Ref. Motif
TTTC
Benign (ref.)
CCTT, CCCTCT
Benign (gene)
AAGG, AGAGGG
Pathogenic (ref.)
CT, CCCCT
Pathogenic (gene)
AG, AGGGG
PathogenicUnits380  2,500

References

Direct supporting references for info on this page.

1
A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions.
Wouter,De Coster, Marleen,Van den Broeck, Matt,Baker, Nikhil B,Ghayal, Sarah,Wynants, Anthony,Batzler, Cyril,Pottier, Sara,Alidadiani, Fahri,Küçükali, Gregory D,Jenkins, Rafaela,Policarpo, Marka,van Blitterswijk, Mariely,DeJesus-Hernandez, Alexandra I,Soto-Beasley, Júlia,Faura, Elise,Coopman, Saskia,Hutten, Merel O,Mol, David,Wallon, Anne,Sieben, Elizabeth C,Finger, Melissa E,Murray, Shelley L,Forrest, Maria C,Tartaglia, Claire,Troakes, Jeroen G J,van Rooij, Aivi T,Nguyen, R Ross,Reichard, Natalie L,Woodman, Alissa L,Nana, Sandra,Weintraub, Tamar,Gefen, Bart,De Vil, Istvan,Bodi, Oscar L,Lopez, Susana,Boluda, Serge,Belliard, Florence,Lebert, Florent,Marguet, Qinwen,Mao, Marsel M,Mesulam, Adam L,Boxer, Mathieu,Vandenbulcke, EunRan,Suh, Jolien,Schaeverbeke, Jean-Charles,Lambert, Sonja W,Scholz, Clifton L,Dalgard, Bryan J,Traynor, Raphael J,Gibbs, Gerard D,Schellenberg, Dorothee,Dormann, Geert,Joris, Tim,De Pooter, Peter,De Rijk, Svenn,D'Hert, Jasper,Van Dongen, Julie,van der Zee, Mojca,Strazisar, Marla,Gearing, Thomas,Kukar, Margaret,Flanagan, Sebastiaan,Engelborghs, Bernardino,Ghetti, Kathy L,Newell, Andrew,King, Sigrun,Roeber, Howard J,Rosen, Salvatore,Spina, Patrick,Cras, Nilüfer,Ertekin-Taner, Zbigniew K,Wszolek, Ryan J,Uitti, William P,Cheshire, Wolfgang,Singer, Jochen,Herms, Keith A,Josephs, Jennifer L,Whitwell, Ronald C,Petersen, Florence,Pasquier, Gaël,Nicolas, Rudolph,Castellani, Jonathan,Glass, Bruce L,Miller, Gabor G,Kovacs, Robert A,Rissman, Annie,Hiniker, Vincent,Deramecourt, Lee-Cyn,Ang, Jin,Lee-Way, Vivianna M,Van Deerlin, Brittany N,Dugger, Dietmar R,Thal, Lea T,Grinberg, Carlos,Cruchaga, Thomas,Arzberger, David G,Munoz, Julia,Keith, Lorne,Zinman, Ekaterina,Rogaeva, Edward B,Lee, Stephen J,Haggarty, Olaf,Ansorge, Masud,Husain, Glenda M,Halliday, Safa,Al-Sarraj, Owen A,Ross, Kristel,Sleegers, Rik,Vandenberghe, Bradley F,Boeve, Neill R,Graff-Radford, Julia,Kofler, Charles L,White, Tammaryn,Lashley, Manuela,Neumann, Joanna M,Biernacka, William W,Seeley, Harro,Seelaar, John C,van Swieten, Jonathan D,Rohrer, Dennis W,Dickson, Ian R A,Mackenzie, Rosa,Rademakers
Nature genetics · 2026-03-12
pmid:41820575