Phenotypic Variability in Autosomal Dominant Familial Alzheimer Disease due to the S170F Mutation of Presenilin-1.

CONCLUSION: The variable clinical findings associated with the S170F mutation highlight the relevance of atypical phenotypes in the context of research and under a clinical perspective. CSF sampling and detection of Aβ species may be essential to indicate AD pathology in unclear cases presenting with cognitive and motor symptoms at a younger age. PMID: 29466804 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/29466804?dopt=Abstract

Source: Neuro-Degenerative Diseases - February 22, 2018 Category: Neurology Authors: Tiedt HO, Benjamin B, Niedeggen M, Lueschow A Tags: Neurodegener Dis Source Type: research