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Worldwide distribution of PSEN1 Met146Leu mutation: A large variability for a founder mutation
A. C. Bruni ,
L. Bernardi ,
R. Colao ,
E. Rubino ,
N. Smirne ,
F. Frangipane ,
B. Terni ,
S.A.M. Curcio ,
M. Mirabelli ,
A. Clodomiro ,
R. Di Lorenzo ,
R. Maletta ,
M. Anfossi ,
M. Gallo ,
S. Geracitano ,
C. Tomaino ,
M. G. Muraca ,
A. Leotta ,
S. G. Lio ,
L. Pinessi ,
I. Rainero ,
S. Sorbi ,
L. Nee ,
G. Milan ,
S. Pappata ,
A. Postiglione ,
N. Abbamondi ,
G. Forloni ,
P. St. George Hyslop ,
E. Rogaeva ,
O. Bugiani ,
G. Giaccone ,
J. F. Foncin ,
M. G. Spillantini ,
G. Puccio
March 08 2010
February 17 2010
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Abstract
<p class="first" id="d9283080e264">Large kindreds segregating familial Alzheimer disease
(FAD) offer the opportunity
of studying clinical variability as observed for presenilin 1 (PSEN1) mutations. Two
early-onset FAD (EOFAD) Calabrian families with PSEN1 Met146Leu (ATG/CTG) mutation
constitute a unique population descending from a remote common ancestor. Recently,
several other EOFAD families with the same mutation have been described worldwide.
</p>