Article
Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation.
Neurology - 9 Mar 2010
Bruni A C, Bernardi L, Colao R, Rubino E, Smirne N, Frangipane F, Terni B, Curcio S A M, Mirabelli M, Clodomiro A, Di Lorenzo R, Maletta R, Anfossi M, Gallo M, Geracitano S, Tomaino C, Muraca M G, Leotta A, Lio S G, Pinessi L, Rainero I, Sorbi S, Nee L, Milan G, Pappatà S, Postiglione A, Abbamondi N, Forloni G, St George Hyslop P, Rogaeva E, Bugiani O, Giaccone G, Foncin J F, Spillantini M G, Puccio G
Abstract excerpt
OBJECTIVE: 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 desce...
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