Mutation negative "early-onset familial Alzheimer disease": consider screening for tau gene mutations.
Mutations in 3 genes are known to be deterministic for early-onset familial Alzheimer disease. The genes are presenilin-1, presenilin-2, and amyloid precursor protein. As these genes prove to be negative in patients with a clinical diagnosis of early-onset familial Alzheimer disease, a search for tau gene mutations may be appropriate, as illustrated by the following case.
Larner
Andrew J
AJ
Cognitive Function Clinic, Walton Centre for Neurology and Neurosurgery, Liverpool, UK. a.larner@thewaltoncentre.nhs.uk
D017668:Age of Onset; D000544:Alzheimer Disease / Q000175:diagnosis / Q000235:genetics*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics* / Q000502:physiology; D010641:Phenotype; D053764:Presenilin-1 / Q000235:genetics; D016875:tau Proteins / Q000235:genetics*
D016564:Amyloid beta-Protein Precursor; C508853:PSEN1 protein, human; D053764:Presenilin-1; D016875:tau Proteins