Article
PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier.
Neurology - 14 Oct 2003
Rogaeva E, Bergeron C, Sato C, Moliaka I, Kawarai T, Toulina A, Song Y-Q, Kolesnikova T, Orlacchio A, Bernardi G, St George-Hyslop P H
Abstract excerpt
PS1 mutations are associated with classic Alzheimer's disease (AD); however, some families develop AD and spastic paraplegia (SP) with brain pathology characterized by Abeta cotton wool plaques. The authors report a variant AD family with the E280Q PS1 mutation. The fact that the same PS1 mutation can be found in patients with either variant or classic AD argues in favor of the presence of a genetic modifier. The...
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