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NEUROLOGY 2003;61:1005-1007
© 2003 American Academy of Neurology
Brief Communications

PS1 Alzheimer’s disease family with spastic paraplegia

The search for a gene modifier

E. Rogaeva, PhD, C. Bergeron, MD, C. Sato, BSc, I. Moliaka, PhD, T. Kawarai, MD, A. Toulina, PhD, Y-Q. Song, PhD, T. Kolesnikova, MD, A. Orlacchio, MD, G. Bernardi, MD and P. H. St. George-Hyslop, MD FRCP(C)

From the Centre for Research in Neurodegenerative Diseases, University of Toronto, and Department of Medicine (Division of Neurology) (Drs. Rogaeva, Bergeron, Moliaka, Kawarai, Toulina, Song, Kolesnikova, and St. George-Hyslop, C. Sato); Department of Laboratory Medicine and Pathobiology (Dr. Bergeron), The University Health Network, Toronto, Ontario, Canada; Laboratorio di Neurogenetica (Drs. Orlacchio and Bernardi), I.R.C.C.S. Santa Lucia, Rome, Italy; and Dipartimento di Neuroscienze (Drs. Orlacchio and Bernardi), Università di Roma "Tor Vergata," Rome, Italy.

Address correspondence and reprint requests to Dr. Ekaterina Rogaeva, Centre for Research in Neurodegenerative Diseases, University of Toronto, Tanz Neuroscience Building, 6 Queen’s Park Crescent West, Toronto, Ontario, Canada, M5S 3H2; e-mail: ekaterina.rogaeva{at}utoronto.ca

PS1 mutations are associated with classic Alzheimer’s disease (AD); however, some families develop AD and spastic paraplegia (SP) with brain pathology characterized by Aß 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.

Received March 3, 2003. Accepted in final form June 13, 2003.




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