Ryan, N.S.; Rossor, M.N.; (2010) Correlating familial Alzheimer’s disease gene mutations with clinical phenotype. Biomarkers in Medicine , 4 (1) pp. 99-112. 10.2217/bmm.09.92.

Preview

PDF 20367.pdf Download (569kB)

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.

Download activity - last month

Export as CSVJSONXML

Download activity - last 12 months

Export as XMLJSONCSV

Downloads by country - last 12 months

Export as CSVJSONXML

Archive Staff Only

View Item