Work

Correlating Familial Alzheimer's Disease Gene Mutations with Clinical Phenotype

Year: 2010

Type: review

Abstract: Alzheimer's disease (AD) causes devastating cognitive impairment and an intense research effort is currently devoted to developing improved treatments for it. A minority of cases occur at a particularly young age and are caused by autosomal dominantly inherited genetic mutations. Although rare, familial AD provides unique opportunities to gain insights into the cascade of pathological events and how they relate to clinical manifestations. The phenotype of familial AD is highly variable and, although it shares many clinical features with sporadic AD, it also possesses important differences. Exploring the genetic and pathological basis of this phenotypic heterogeneity can illuminate aspects of the underlying disease mechanism, and is likely to inform our understanding and treatment of AD in the future.

Source: Biomarkers in Medicine

DOI: 10.2217/bmm.09.92

Authors: Natalie S Ryan, Martin N Rossor

Institutions: UCL Queen Square Institute of Neurology, University College London

Language: English

Topic: Alzheimer's disease research and treatments

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funder: National Institute on Aging