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A novel presenilin 1 mutation (V261L) associated with presenile Alzheimer’s disease and spastic paraparesis
Author(s) -
Jiménez Caballero P. E.,
De Diego Boguna C.,
Martin Correa E.,
Serviá Candela M.,
Marsal Alonso C.
Publication year - 2008
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/j.1468-1331.2008.02230.x
Subject(s) - psen1 , medicine , proband , presenilin , exon , disease , spasticity , mutation , alzheimer's disease , genetics , gene , physical therapy , biology
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.