PS1 Alzheimer's disease family with spastic paraplegia: The search for a gene modifier

Ekaterina Rogaeva, C. Bergeron, C. Sato, I. Moliaka, T. Kawarai, A. Toulina, Y. Q. Song, T. Kolesnikova, A. Orlacchio, G. Bernardi, P. H. St. George-Hyslop

Research output: Contribution to journalArticle

Abstract

PS1 mutations are associated with classic Alzheimer's disease (AD); however, some families develop AD and spastic paraplegia (SP) with brain pathology characterized by Aβ 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 authors have excluded that this modifier effect originates from coding sequence variations in three SP genes or from a second mutation in the other AD genes.

Original languageEnglish
Pages (from-to)1005-1007
Number of pages3
JournalNeurology
Volume61
Issue number7
Publication statusPublished - Oct 14 2003

ASJC Scopus subject areas

  • Neuroscience(all)

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    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. (2003). PS1 Alzheimer's disease family with spastic paraplegia: The search for a gene modifier. Neurology, 61(7), 1005-1007.