A novel presenilin 1 mutation (V261L) associated with presenile Alzheimer’s disease and spastic paraparesis
Article first published online: 15 JUL 2008
© 2008 The Author(s). Journal compilation © 2008 EFNS
European Journal of Neurology
Volume 15, Issue 9, pages 991–994, September 2008
How to Cite
Jiménez Caballero, P. E., De Diego Boguna, C., Martin Correa, E., Serviá Candela, M. and Marsal Alonso, C. (2008), A novel presenilin 1 mutation (V261L) associated with presenile Alzheimer’s disease and spastic paraparesis. European Journal of Neurology, 15: 991–994. doi: 10.1111/j.1468-1331.2008.02230.x
- Issue published online: 11 AUG 2008
- Article first published online: 15 JUL 2008
- Received 9 February 2008 Accepted 29 May 2008
Vol. 16, Issue 7, 883, Article first published online: 3 JUN 2009
- Alzheimer’s disease;
- early-onset dementia;
- presenilin 1;
- spastic paraparesis
Background and purpose: We report a novel mutation in exon 8 of the presenilin 1 (PSEN1) gene (V261L) associated with early-onset autosomal dominant Alzheimer’s disease and spastic paraparesis.
Methods and results: The proband was a woman who developed insidious cognitive decline with predominant memory loss and gait disorder secondary to spasticity at the age of 40. Her brother and her mother had a similar disease in the fifth decade of life. The feature of amnestic presentation with spastic paraparesis is consistent with the majority of mutations in the exon 8 of the PSEN1 1 gene.
Conclusions: Screening for PSEN1 mutations is especially likely to be productive when directed toward persons with positive family history and with age at onset of under 60.