Huey ED, Grafman J, Wassermann EM, Pietrini P, Tierney MC, Ghetti B, Spina S, Baker M, Hutton M, Elder JW, Berger SL, Heflin KA, Hardy J, Momeni P. Characteristics of frontotemporal dementia patients with a Progranulin mutation. Annals of Neurology 60: 374-380, 2006 (PubMed ID: 16983677)

Mutations

GRN: (Arg493X)
MAPT: (Pro301Ser)

ID: 414

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

Pickering-Brown SM, Baker M, Gass J, Boeve BF, Loy CT, Brooks WS, Mackenzie IR, Martins RN, Kwok JB, Halliday GM, Kril J, Schofield PR, Mann DM, Hutton M. Mutations in progranulin explain atypical phenotypes with variants in MAPT. Brain 129: 3124-3216, 2006 (PubMed ID: 17071927)

Mutations

PSEN1: (InsR352)
GRN: (IVS2+1G>A) (IVS11-15_EX12+177del; Δ12) (Arg493X)
MAPT: (Ala239Thr) (IVS10+29G>A)

ID: 419

Mesulam M, Johnson N, Krefft TA, Gass JM, Cannon AD, Adamson JL, Bigio EH, Weintraub S, Dickson DW, Hutton ML, Graff-Radford NR. Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families. Archives of Neurology 64: 43-47, 2007 (PubMed ID: 17210807)

Mutations

GRN: (Gly333fs) (Arg493X)

ID: 423

Spina S, Murrell JR, Huey ED, Wassermann EM, Pietrini P, Baraibar MA, Barbeito AG, Troncoso JC, Vidal R, Ghetti B, Grafman J. Clinicopathologic features of frontotemporal dementia with Progranulin sequence variation. Neurology 68: 820-827, 2007 (PubMed ID: 17202431)

Mutations

GRN: (Ala237fs) (Arg433Trp) (Arg493X)

ID: 433

Van Deerlin VM, Wood EM, Moore P, Yuan W, Forman MS, Clark CM, Neumann M, Kwong LK, Trojanowski JQ, Lee VM, Grossman M. Clinical, genetic, and pathologic characteristics of patients with frontotemporal dementia and progranulin mutations. Archives of Neurology 64: 1148-1153, 2007 (PubMed ID: 17698705)

Mutations

GRN: (Arg110X) (Ser226fs) (Trp304X) (Gln337X) (Arg418X) (Arg493X)

ID: 463

Davion S, Johnson N, Weintraub S, Mesulam MM, Engberg A, Mishra M, Baker M, Adamson J, Hutton M, Rademakers R, Bigio EH. Clinicopathologic correlation in PGRN mutations. Neurology 69: 1113-1121, 2007 (PubMed ID: 17522386)

Mutations

GRN: (Ser226fs) (Ala237fs) (Arg493X)

ID: 473

Rademakers R, Baker M, Gass J, Adamson J, Huey ED, Momeni P, Spina S, Coppola G, Karydas AM, Stewart H, Johnson N, Hsiung GY, Kelley B, Kuntz K, Steinbart E, Wood EM, Yu CE, Josephs K, Sorenson E, Womack KB, Weintraub S, Pickering-Brown SM, Schofield PR, Brooks WS, Van Deerlin VM, Snowden J, Clark CM, Kertesz A, Boylan K, Ghetti B, Neary D, Schellenberg GD, Beach TG, Mesulam M, Mann D, Grafman J, Mackenzie IR, Feldman H, Bird T, Petersen R, Knopman D, Boeve B, Geschwind DH, Miller B, Wszolek Z, Lippa C, Bigio EH, Dickson D, Graff-Radford N, Hutton M. Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative. The Lancet Neurology 6: 857-868, 2007 (PubMed ID: 17826340)

Mutations

GRN: (Arg493X)

ID: 474

Ghetti B, Spina S, Murrell JR, Huey ED, Pietrini P, Sweeney B, Wassermann EM, Keohane C, Farlow MR, Grafman J. In vivo and postmortem clinicoanatomical correlations in frontotemporal dementia and parkinsonism linked to chromosome 17. Neurodegenerative Diseases 5: 215-217, 2008 (PubMed ID: 18322394)

Mutations

GRN: (Ala9Asp) (Ala237fs) (Arg493X)
MAPT: (IVS10+3G>A) (Gly335Ser)

ID: 506

Spina S, Murrell JR, Vidal R, Ghetti B. Neuropathologic and genetic characterization of frontotemporal lobar degeneration with Ubiquitin- and/or Tdp-43-positive inclusions: A large series. Alzheimer's & Dementia 4 Supp 2: T431, 2008

Mutations

GRN: (Ala9Asp) (Gln358X) (Cys474fs) (Arg493X)
VCP: (Arg159Cys) (Arg191Gln) (Thr262Ala)

ID: 552

Kelley BJ, Haidar W, Boeve BF, Baker M, Graff-Radford NR, Krefft T, Frank AR, Jack CR Jr, Shiung M, Knopman DS, Josephs KA, Parashos SA, Rademakers R, Hutton M, Pickering-Brown S, Adamson J, Kuntz KM, Dickson DW, Parisi JE, Smith GE, Ivnik RJ, Petersen RC. Prominent phenotypic variability associated with mutations in Progranulin. Neurobiology of Aging 30: 739-751, 2009 (PubMed ID: 17949857)

Mutations

GRN: (Ala9Asp) (IVS2+1G>A) (Thr52fs) (Trp304fs) (Gly333fs) (Thr382fs) (Cys466fs) (Arg493X)

ID: 504

Rohrer JD, Crutch SJ, Warrington EK, Warren JD. Progranulin-associated primary progressive aphasia: a distinct phenotype. Neuropsychologia 48: 288-297, 2010 (PubMed ID: 19766663)

Mutations

GRN: (Arg493X)

ID: 654

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