Pathological and clinical heterogeneity of presenilin 1 gene mutations

Article type: Research Article

Authors: Menéndez, Manuel^{; *}

Affiliations: Neurology Service, Central Universitary Hospital of Asturias, Oviedo, Spain

Correspondence: [*] Corresponding author: Dr. M. Menéndez, Hospital Universitario Central de Asturias, Servicio de Neurología I, C/. Julián Clavería s/n CP: 33006, Oviedo, Spain. Tel.: +34 9851 08000 Ext. 36206; E-mail: [email protected].

Note: [] Communicated by James Geddes

Abstract: The presenilins are two closely related genes which implication in familial Alzheimer's disease (FAD) is well known. Presenilin 1 gene (PS1) mutations cause heterogeneous disorders and a bibliographical review of atypical PS1-FAD cases allows us to describe a great diversity of neuropathological and clinical variations and conclude that most of them do not strongly depend on the genetic location of the mutation so other genetic or epigenetic factors may be involved.

Keywords: Alzheimer's disease, presenilin, phenotype, pathology, mutation, heterogeneity

DOI: 10.3233/JAD-2004-6503

Journal: Journal of Alzheimer's Disease, vol. 6, no. 5, pp. 475-482, 2004