Research article summary (published 30 Jan 2002):

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

Full Abstract

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.

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Author information

Author/s: Queralt, R (R); Ezquerra, M (M); Lleó, A (A); Castellví, M (M); Gelpí, J (J); Ferrer, I (I); Acarín, N (N); Pasarín, L (L); Blesa, R (R); Oliva, R (R);

Affiliation: Genetics Service, Hospital Clínic, Universitat de Barcelona, Spain. roliva(-atsign-)clinic.ub.es

Journal and publication information

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal: Journal of neurology, neurosurgery, and psychiatry (J Neurol Neurosurg Psychiatry), published in England. (Language: eng)

Reference: 2002-Feb; vol 72 (issue 2) : pp 266-9

Dates: Created 2002/01/17; Completed 2002/02/27; Revised 2006/11/15;

PMID: 11796781, status: MEDLINE (last retrieval date: 11/6/2008)

Sourced from the National Library of Medicine. Abstract text and other information may be subject to copyright.

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MeSH headings (categories)

This article was linked to the MESH Headings shown below.

Alzheimer Disease - diagnosis; genetics; pathology Brain - pathology Chromosomes, Human, Pair 14 DNA Mutational Analysis Exons Follow-Up Studies Humans Male

Male Membrane Proteins - genetics Mental Disorders - diagnosis; genetics; pathology Middle Aged Mutation - genetics Neuropsychological Tests Pedigree Presenilin-1

Associated Chemicals: Membrane Proteins (0) ; PSEN1 protein, human (0) ; Presenilin-1 (0)

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