Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.
Nicholas JM, Weston PSJ, Liang Y, Lashley T, Guerreiro R, Adamson G, Kenny J, Beck J, Chavez-Gutierrez L, de Strooper B, Revesz T, Holton J, Mead S, Rossor MN, Fox NC
Retrospective data analysis of genotypic and selected phenotypic data from individuals with ADAD seen at the Dementia Research Centre in London. Results indicate ADAD phenotypes are heterogenous with age at onset and clinical features influenced by mutation position and causative gene. This highlights the need for genetic testing in young patients with dementia and additional neurological features, especially if there is a family history of AD or no family history available.