Clark RF, Hutton M, Fuldner RA, Froelich S, Karran E, Talbot C, Crook R, Lendon C, Prihar G, He C, Korenblat K, Martinez A, Wragg M, Busfield F, Behrens MI, Myers A, Norton J, Morris J, Mehta N, Pearson C, Lincoln C, Baker M, Duff K, Zehr C, Perez-Tur J, Houlden H, Ruiz A, Ossa J, Lopera F, Arcos M, Madrigal L, Collinge J, Humphreys C, Ashworth A, Sarner S, Fox N, Harvey R, Kennedy A, Roques P, Cline RT, Phillips CA, Venter JC, Forsell L, Axelman K, Lilius L, Johnston J, Cowburn R, Viitanen M, Winblad B, Kosik K, Haltia M, Poyhonen M, Dickson D, Mann D, Neary D, Snowdon J, Lantos P, Lannfelt L, Rossor M, Roberts GW, Adams MD, Hardy J, Goate A. The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Nature Genetics 11: 219-222, 1995 (PubMed ID: 7550356)

Mutations

PSEN1: (Met139Val) (Met146Leu) (Met146Val) (His163Tyr) (Pro267Ser) (Glu280Ala) (Glu280Gly)

ID: 13

Hutton M, Busfield F, Wragg M, Crook R, Perez-Tur J, Clark RF, Prihar G, Talbot C, Phillips H, Wright K, Baker M, Lendon C, Duff K, Martinez A, Houlden H, Nichols A, Karran E, Roberts G, Roques P, Rossor M, Venter JC, Adams MD, Cline RT, Phillips CA, Fuldner RA, Hardy J, Goate A. Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease. Neuroreport 7: 801-805, 1996 (PubMed ID: 8733749)

Mutations

PSEN1: (Glu120Lys) (Met139Val) (Leu250Ser) (Pro267Ser) (Glu280Gly) (Δ9)

ID: 9

O'Riordan S, McMonagle P, Janssen JC, Fox NC, Farrell M, Collinge J, Rossor MN, Hutchinson M. Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities. Neurology 59: 1108-1110, 2002 (PubMed ID: 12370477)

Mutations

PSEN1: (Glu280Gly)

ID: 146

Rogaeva E, Bergeron C, Sato C, Moliaka I, Kawarai T, Toulina A, Song YQ, Kolesnikova T, Orlacchio A, Bernardi G, St George-Hyslop PH. PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier. Neurology 61: 1005-1007, 2003 (PubMed ID: 14557582)

Mutations

PSEN1: (Glu280Gly)

ID: 427

Raux G, Guyant-Marechal L, Martin C, Bou J, Penet C, Brice A, Hannequin D, Frebourg T, Campion D. Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update. Journal of Medical Genetics 42: 793-795, 2005 (PubMed ID: 16033913)

Mutations

APP: (Thr714Ile, Austrian APP) (Val717Ile; London APP)
PSEN1: (Arg35Gln) (Phe105Ile) (Thr116Asn) (Thr116Ile) (Glu120Asp) (Ile143Asn) (Ile143Thr) (Leu153Val) (Phe177Leu) (Gly206Ser) (Gly206Asp) (His214Tyr) (Met233Thr) (Pro264Leu) (Glu280Gly) (Glu318Gly) (Phe386Ser) (Val391Phe) (Leu392Val) (Leu424His)

ID: 376

Dumanchin C, Tournier I, Martin C, Didic M, Belliard S, Carlander B, Rouhart F, Duyckaerts C, Pellissier JF, Latouche JB, Hannequin D, Frebourg T, Tosi M, Campion D. Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques. Human Mutation 27: 1063, 2006 (PubMed ID: 16941492)

Mutations

PSEN1: (Pro264Leu) (Glu280Gly) (869-22_869-23ins18) (Thr291Pro)

ID: 412