A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances

• Published in: Journal of neurology, neurosurgery and psychiatry Vol. 72; no. 2; pp. 266 - 269
• Main Authors: Queralt, R, Ezquerra, M, Lleó, A, Castellví, M, Gelpí, J, Ferrer, I, Acarín, N, Pasarín, L, Blesa, R, Oliva, R
• Format: Journal Article
• Language: English
• Published: London BMJ 01.02.2002; BMJ Publishing Group LTD; BMJ Group
• Subjects: Age; Alzheimer Disease - diagnosis; Alzheimer Disease - genetics; Alzheimer Disease - pathology; Alzheimer's disease; Anxiety; Apathy; Biological and medical sciences; Brain - pathology; Chromosomes; Chromosomes, Human, Pair 14; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; DNA Mutational Analysis; Exons; Follow-Up Studies; Genes; Humans; Male; Medical sciences; Membrane Proteins - genetics; Memory; Mental Disorders - diagnosis; Mental Disorders - genetics; Mental Disorders - pathology; Middle Aged; Mutation; Mutation - genetics; Neurology; Neuropsychological Tests; Pedigree; Presenilin-1; Short Report; Human; Nervous system diseases; Alzheimer disease; Family study; Presenilin; Genetic determinism; Cerebral disorder; Behavioral disorder; Phenotype; Age of onset; Gene; Central nervous system disease; Early; Degenerative disease; Mutation
• ISSN: 0022-3050; 1468-330X
• DOI: 10.1136/jnnp.72.2.266

A novel mutation (V89L) in the presenilin 1 (PSEN1) gene is described in a family with pathologically confirmed Alzheimer's disease. The mutation was identified in two affected members with early onset Alzheimer's disease characterised by early and marked behavioural disturbances. The mutation is located on the same side of the helix as other described mutations in the first transmembrane domain and its relation to other mutations in this helix suggests that they share a common pathogenic mechanism.