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

Lindquist S, Schwartz M, Batbayli M, Waldemar G, Nielsen J. Genetic testing in familial AD and FTD: Mutation and phenotype spectrum in a Danish cohort. Clinical Genetics 76: 205-209, 2009 (PubMed ID: 19659892)

Mutations

APP: (Thr714Ala, Iranian APP)
PSEN1: (Glu120Lys) (Met146Ile) (Glu318Gly)
PSEN2: (Val393Met)
GRN: (Thr52fs) (Trp386X)
MAPT: (IVS10+29G>A) (Arg406Trp)

ID: 621

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