Perez-Tur J, Froelich S, Prihar G, Crook R, Baker M, Duff K, Wragg M, Busfield F, Lendon C, Clark RF, Roques P, Fuldner RA, Johnston J, Cowburn R, Forsell C, Axelman K, Lilius L, Houlden H, Karran E, Roberts GW, Rossor M, Adams MD, Hardy J, Goate A, Lannfelt L, Hutton M. A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene. Neuroreport 7: 297-301, 1995 (PubMed ID: 8742474)

Mutations

PSEN1: (Δ9)

ID: 54

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

Kwok JB, Taddei K, Hallupp M, Fisher C, Brooks WS, Broe GA, Hardy J, Fulham MJ, Nicholson GA, Stell R, St George Hyslop PH, Fraser PE, Kakulas B, Clarnette R, Relkin N, Gandy SE, Schofield PR, Martins RN. Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype. Neuroreport 8: 1537-1542, 1997 (PubMed ID: 9172170)

Mutations

PSEN1: (Met233Thr) (Pro264Leu) (Arg278Thr) (Glu280Ala) (Δ9) (Δ9)

ID: 25

Kwok JBJ, Smith MJ, Brooks WS, Kril J, Mclean C, Hallupp M, Schofield PR. Variable presentation of Alzheimer's disease and / or spastic paraparesis phenotypes in pedigrees with a novel PS-1 exon 9 gene deletion or exon 9 splice acceptor mutations. Neurobiology of Aging 21 Supp1: S25, 2000

Mutations

PSEN1: (Δ9) (Δ9) (Δ9)

ID: 99

Rogaeva EA, Fafel KC, Song YQ, Medeiros H, Sato C, Liang Y, Richard E, Rogaev EI, Frommelt P, Sadovnick AD, Meschino W, Rockwood K, Boss MA, Mayeux R, St George-Hyslop P. Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology 57: 621-625, 2001 (PubMed ID: 11524469)

Mutations

PSEN1: (Arg35Gln) (Ala79Val) (Intron4; InsTAC) (Tyr115Cys) (Thr116Asn) (Ile143Thr) (Met146Leu) (Met146Val) (Met146Leu) (Met146Ile) (InsFI) (His163Arg) (Phe177Leu) (Phe177Ser) (Ser178Pro) (Gly206Ser) (Gly206Ala) (Gly209Glu) (Ile213Leu) (Gln222Arg) (Ala231Thr) (Met233Leu) (Leu235Pro) (Val261Phe) (Thr274Arg) (Δ9) (InsR352) (Thr354Ile) (Arg358Gln) (Ser365Tyr) (Gly394Val) (Leu418Phe) (Ala431Glu) (Ala434Cys) (Leu435Phe) (Ile439Val)

ID: 112

Brooks WS, Kwok JB, Kril JJ, Broe GA, Blumbergs PC, Tannenberg AE, Lamont PJ, Hedges P, Schofield PR. Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: two pedigrees with PS-1 exon 9 deletions. Brain 126: 783-791, 2003 (PubMed ID: 12615638)

Mutations

PSEN1: (Δ9) (Δ9)

ID: 169

Halliday GM, Song YJ, Lepar G, Brooks WS, Kwok JB, Kersaitis C, Gregory G, Shepherd CE, Rahimi F, Schofield PR, Kril JJ. Pick bodies in a family with presenilin-1 Alzheimer's disease. Annals of Neurology 57: 139-143, 2005 (PubMed ID: 15622541)

Mutations

PSEN1: (Met146Leu) (Δ9) (Δ9)

ID: 385