Lynch T, Sano M, Marder KS, Bell KL, Foster NL, Defendini RF, Sima AA, Keohane C, Nygaard TG, Fahn S. Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex. Neurology 44: 1878-1884, 1994 (PubMed ID: 7936241)

Mutations

MAPT: (IVS10+14C>T)

ID: 272

Wilhelmsen KC, Lynch T, Pavlou E, Higgins M, Nygaard TG. Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. American Journal of Human Genetics 55: 1159-1165, 1994 (PubMed ID: 7977375)

Mutations

MAPT: (IVS10+14C>T)

ID: 274

Sima AA, Defendini R, Keohane C, D'Amato C, Foster NL, Parchi P, Gambetti P, Lynch T, Wilhelmsen KC. The neuropathology of chromosome 17-linked dementia. Annals of Neurology 39: 734-743, 1996 (PubMed ID: 8651645)

Mutations

MAPT: (IVS10+14C>T)

ID: 273

Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies P, Petersen RC, Stevens M, de Graaff E, Wauters E, van Baren J, Hillebrand M, Joosse M, Kwon JM, Nowotny P, Heutink P. Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393: 702-705, 1998 (PubMed ID: 9641683)

Mutations

MAPT: (Gly272Val) (Pro301Leu) (IVS10+13A>G) (IVS10+14C>T) (IVS10+16C>T) (Arg406Trp)

ID: 187

Clark LN, Poorkaj P, Wszolek Z, Geschwind DH, Nasreddine ZS, Miller B, Li D, Payami H, Awert F, Markopoulou K, Andreadis A, D'Souza I, Lee VM, Reed L, Trojanowski JQ, Zhukareva V, Bird T, Schellenberg G, Wilhelmsen KC. Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17. Proceedings of the National Academy of Sciences USA 95: 13103-13107, 1998 (PubMed ID: 9789048)

Mutations

MAPT: (Asn279Lys) (Pro301Leu) (IVS10+14C>T)

ID: 196

Morris HR, Khan MN, Janssen JC, Brown JM, Perez-Tur J, Baker M, Ozansoy M, Hardy J, Hutton M, Wood NW, Lees AJ, Revesz T, Lantos P, Rossor MN. The genetic and pathological classification of familial frontotemporal dementia. Archives of Neurology 58: 1813-1816, 2001 (PubMed ID: 11708988)

Mutations

MAPT: (Pro301Ser) (IVS10+14C>T) (IVS10+16C>T)

ID: 222

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