A novel presenilin 1 mutation (V261L) associated with presenile Alzheimer's disease and spastic paraparesis.
OBJECTIVE
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.


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.
Jiménez Caballero
P E
PE
Alzheimer's Disease and Other Cognitive Disorders Unit, Department of Neurology, Hospital Virgen de la Salud, Toledo, Spain. pjimenez1010j@yahoo.es
Lladó
A
A
de Diego Boguna
C
C
Martin Correa
E
E
Serviá Candela
M
M
Marsal Alonso
C
C
D000328:Adult; D017668:Age of Onset; D000544:Alzheimer Disease / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D019943:Amino Acid Substitution; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D020336:Paraparesis, Spastic / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D017354:Point Mutation; D053764:Presenilin-1 / Q000235:genetics*; D015899:Tomography, Emission-Computed, Single-Photon
C508853:PSEN1 protein, human; D053764:Presenilin-1