Baker M, Mackenzie IR, Pickering-Brown SM, Gass J, Rademakers R, Lindholm C, Snowden J, Adamson J, Sadovnick AD, Rollinson S, Cannon A, Dwosh E, Neary D, Melquist S, Richardson A, Dickson D, Berger Z, Eriksen J, Robinson T, Zehr C, Dickey CA, Crook R, McGowan E, Mann D, Boeve B, Feldman H, Hutton M. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 442: 916-919, 2006 (PubMed ID: 16862116)

Mutations

GRN: (Met1) (Cys31fs) (Gln125X) (Gln130fs) (Val279fs) (Thr382fs) (Trp386X) (Arg418X) (Gln468X)

ID: 381

Gass J, Cannon A, Mackenzie IR, Boeve B, Baker M, Adamson J, Crook R, Melquist S, Kuntz K, Petersen R, Josephs K, Brown SP, Graff-Radford N, Uitti R, Dickson D, Wzsolek Z, Gonzalez J, Beach TG, Bigio E, Johnson N, Weintraub S, Mesulam M, White CL 3rd, Woodruff B, Caselli R, Hsiung GY, Feldman H, Knopman D, Hutton M, Rademakers R. Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Human Molecular Genetics 15: 2988-3001, 2006 (PubMed ID: 16950801)

Mutations

GRN: (Met1) (Ala9Asp) (Arg19Trp) (Asp22fs) (Cys31fs) (Asp33) (Gly35fs) (IVS2+1G>A) (Thr52fs) (Gly79fs) (Glu88) (Cys105Arg) (Asp128) (Gln130fs) (Ala155fs) (Ser226fs) (Asn236) (Val200fs) (Cys253X) (Val279fs;IVS8-1G>C) (Glu287Asp) (Ser301) (Trp304fs) (Trp304X) (Val279fs) (Ala324Thr) (Gly333fs) (Thr382fs) (Trp386X) (Arg418X) (Arg418Gln) (Arg433Trp) (Cys466fs) (Cys474) (Arg493X) (Gly515Ala)

ID: 407

Beck J, Rohrer JD, Campbell T, Isaacs A, Morrison KE, Goodall EF, Warrington EK, Stevens J, Revesz T, Holton J, Al-Sarraj S, King A, Scahill R, Warren JD, Fox NC, Rossor MN, Collinge J, Mead S. A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series. Brain 131: 706-720, 2008 (PubMed ID: 18234697)

Mutations

GRN: (Cys31fs) (Gln130fs) (Ala199Val) (Ser203fs) (Gln300X) (Ala324Thr) (Arg433Trp) (Leu469Phe) (Glu498fs)

ID: 517

Rohrer JD, Warren JD, Omar R, Mead S, Beck J, Revesz T, Holton J, Stevens JM, Al-Sarraj S, Pickering-Brown SM, Hardy J, Fox NC, Collinge J, Warrington EK, Rossor MN. Parietal lobe deficits in frontotemporal lobar degeneration caused by a mutation in the progranulin gene. Archives of Neurology 65: 506-513, 2008 (PubMed ID: 18413474)

Mutations

GRN: (Cys31fs)

ID: 515

Rohrer JD, Guerreiro R, Vandrovcova J, Uphill J, Reiman D, Beck J, Isaacs AM, Authier A, Ferrari R, Fox NC, Mackenzie IR, Warren JD, de Silva R, Holton J, Revesz T, Hardy J, Mead S, Rossor MN.. The heritability and genetics of frontotemporal lobar degeneration. Neurology 73: 1451-1456, 2009 (PubMed ID: 19884572)

Mutations

GRN: (Cys31fs) (Gln300X) (Leu469Phe)
MAPT: (ΔK280;ΔK281) (Asn296) (IVS10+16C>T) (IVS10+19C>G) (Ser320Phe)

ID: 668

Yu CE, Bird TD, Bekris LM, Montine TJ, Leverenz JB, Steinbart E, Galloway NM, Feldman H, Woltjer R, Miller CA, Wood EM, Grossman M, McCluskey L, Clark CM, Neumann M, Danek A, Galasko DR, Arnold SE, Chen-Plotkin A, Karydas A, Miller BL, Trojanowski JQ, Lee VM, Schellenberg GD, Van Deerlin VM. The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration. Archives of Neurology 67: 161-170, 2010 (PubMed ID: 20142524)

Mutations

GRN: (Cys31fs) (Arg110X) (Gln130fs) (Ser226fs) (Thr272fs) (Trp304X) (Gln337X) (Trp386X) (Arg418X) (Gln468X) (Arg493X)

ID: 642

Rohrer JD, Ridgway GR, Modat M, Ourselin S, Mead S, Fox NC, Rossor MN, Warren JD. Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations. Neuroimage 53: 1070-1076, 2010 (PubMed ID: 20045477)

Mutations

GRN: (Cys31fs) (Gln130fs) (Ala199Val) (Ser203fs) (Glu498fs)
MAPT: (IVS10+14C>T) (IVS10+16C>T) (Ser320Phe) (Gly389Arg)

ID: 682