Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease, Spastic Paraparesis
Reference Assembly: GRCh37 (105)
Position: Chr14:73664750 G>C
dbSNP ID: NA
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: GTT to CTT
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: Exon 8

Findings

This mutation was identified in a Spanish woman who developed cognitive impairment, including memory loss, as well as gait disruption secondary to spastic paraparesis, at age 40 (Jiménez-Caballero et al., 2008; Gómez-Tortosa et al., 2010). Her brother and mother developed similar symptoms in their late 40s.

Neuropathology
Neuropathological data are not available, but MRI of the proband’s brain showed symmetrical cortical and subcortical atrophy, particularly in the frontal lobes, and SPECT revealed bilateral temporal hypoperfusion.

Biological Effects
Unknown

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References

Paper Citations

1. Jiménez Caballero PE, Lladó A, de Diego Boguna C, Martin Correa E, Serviá Candela M, Marsal Alonso C. A novel presenilin 1 mutation (V261L) associated with presenile Alzheimer's disease and spastic paraparesis. Eur J Neurol. 2008 Sep;15(9):991-4. PubMed.
2. Gómez-Tortosa E, Barquero S, Barón M, Gil-Neciga E, Castellanos F, Zurdo M, Manzano S, Muñoz DG, Jiménez-Huete A, Rábano A, Sainz MJ, Guerrero R, Gobernado I, Pérez-Pérez J, Jiménez-Escrig A. Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations. J Alzheimers Dis. 2010;19(3):873-84. PubMed.

Further Reading

Learn More

1. Alzheimer Disease & Frontotemporal Dementia Mutation Database