Locus aFTLD-U GOLGA8A
Disease ID
aFTLD-U
Gene ID
GOLGA8A
Updated
Jun 15, 2026
v2.22.0
v2.22.0
Other gene loci
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Bioinformatical Links
Disease
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Name Atypical frontotemporal lobar degeneration with ubiquitinated inclusions (aFTLD-U)
Inheritance –
Description A rare subtype of Frontotemporal Lobar Degeneration with FET protein inclusions (FTLD-FET). Categorized clinically by behavioral variant frontotemporal dementia (bvFTD) with TAF15/FUS/EWSR1 positive inclusions. Associated with psychiatric symptoms and frontal/striatal atrophy1 .
Prevalence FTLD-FET makes up ~5–10% of FTLD, and aFTLD-U is the most common FTLD-FET subtype. Prevalence estimates are challenging because diagnosis typically requires neuropathology at autopsy. Risk haplotypes are enriched in Amish and non-Finnish europeans1 .
Age of Onset Typical: 34-55; Range: 21-721 .
HPO Terms
Association
Risk
Locus
Details Variation in repeat length, motif length, and motif sequence, with long CT-dimer expansions strongly associated with aFTLD-U risk. CCTT and CCCTCT motif expansions have been observed in unaffected individuals. CCCCT repeats were present in one aFTLD-U case. Proposed risk-associated expansions are typically >450 bp with >80% CT content and/or contain >190 CT dimers, though unaffected carriers have also been observed. Although the functional consequence of this repeat remains unknown, its presence in nearly 60% of aFTLD-U cases points to a major role in disease pathogenesis1 .
Mechanism
Unknown [@pmid:41820575].
Detection
Alleles
Ref. Motif Reference motif, reference orientation
TTTC
Ranges
Benign (ref.) Benign motif, reference orientation
CCTT, CCCTCT
Benign (gene) Benign motif, gene orientation
AAGG, AGAGGG
Pathogenic (ref.) Pathogenic motif, reference orientation
CT
Pathogenic (gene) Pathogenic motif, gene orientation
AG
Unknown (ref.) Unknown motif, reference orientation
CCCCT
Unknown (gene) Unknown motif, gene orientation
AGGGG
Interruption (ref.) Interruption motif, reference orientation
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Interruption (gene) Interruption motif, gene orientation
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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:41820575Additional Literature
Additional literature related to this locus.
Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem
repeats, and disease, in medline format)