Article
Clinical presentation of early-onset Alzheimer's disease as a result of mutation in exon 12 of the PSEN-1 gene.
American journal of Alzheimer's disease and other dementias - 1 Dec 2014
Klimkowicz-Mrowiec Aleksandra, Bodzioch M, Szczudlik A, Slowik A
Abstract excerpt
INTRODUCTION: Mutations in the gene for presenilin 1 (PSEN-1) cause familial, early-onset Alzheimer's disease (EOAD). Diagnosis of EOAD is often a challenge because of the high frequency of atypical presentations. Clinical manifestation of EOAD may vary depending on underlying mutation; specific genetic mutations influence development of specific clinical phenotypes; however, intrafamilial phenotypic...
Topics
- Adult
- Alzheimer Disease
- Dyskinesias
- Epilepsy
- Exons
- Female
- Humans
- Mental Disorders
- Mutation
- Phenotype
- Presenilin-1