A novel presenilin 1 mutation (V261L) associated with presenile Alzheimer's disease and spastic paraparesis |
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Authors: | P. E. Jimé nez Caballero,C. de Diego Boguna,E. Martin Correa,M. Serviá Candela, C. Marsal Alonso |
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Affiliation: | Alzheimer's Disease and Other Cognitive Disorders Unit, Department of Neurology, Hospital Virgen de la Salud, Toledo, Spain |
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Abstract: | 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. |
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Keywords: | Alzheimer's disease early-onset dementia mutation parkinsonism presenilin 1 spastic paraparesis |
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