Genetic markers in the diagnosis of Alzheimer's disease

Article type: Research Article

Authors: Rogaeva, Ekaterina | Tandon, Anurag | St. George-Hyslop, Peter H.

Affiliations: Centre for Research in Neurodegenerative Diseases, Tanz Neuroscience Bldg., University of Toronto, 6 Queen's Park Crescent West, Toronto, Ontario, Canada M5S 3H2. Tel.: +1 416 978 2503; Fax: +1 416 978 1878

Abstract: Abbreviations: AD, Alzheimer's disease; AβPP, amyloid β protein precursor; BACE, β-site AβPP cleaving enzyme; PS1, presenilin-1; PS2, presenilin-2; APOE, apolipoprotein E; LRP, low density lipoprotein receptor-related protein; SNPs, single-nucleotide polymorphisms; A2M, α-2-macroglobulin. Alzheimer's disease (AD) is the most common neurodegenerative disorder associated with dementia in the elderly population. Its clinical symptoms are manifest with increasing prominence during mid- to late stages of adulthood. In the absence of precise biological indicators that precede or accompany the cognitive decline, diagnostic confirmation of AD requires postmortem detection of histopathological characteristics such as amyloid plaques, neurofibrillary tangles, and extensive cortical atrophy. While the etiology of AD remains incompletely understood, it was recognized early on that the observed familial aggregation of AD implied the presence of one or more inherited susceptibility markers that could be useful in diagnosis and treatment. To date, genetic analyses of these pedigrees have resolved four independent genetic loci linked with inherited susceptibility to AD.

DOI: 10.3233/JAD-2001-3304

Journal: Journal of Alzheimer's Disease, vol. 3, no. 3, pp. 293-304, 2001