Rare. Accounts for approximately 1 % of patients who suffer from Alzheimer's disease. 

Autosomal dominant transmission of a mutation in one of these genes:

-         APP: (20 % of cases)

-         PSEN1 (presenilin 1): 70-80 % of cases, very aggressive form starting between 25 and 40 years of age

-         PSEN2 (preselinine 2): 2 % of the cases

These mutations result in an increase in the production of neurotoxic Aβ1-42 peptide and in the formation of neurofibrils and amyloid plaques. In the sporadic (classic) form, the cause of the disease could be a decrease in the elimination of the peptide Aβ1-42;  the presence of the allele 4 of the apolipoprotein E  (APOE4) gene significantly increases the risk for a sporadic Alzheimer's disease

The clinical presentation is similar to the classic form except that the first symptoms appear at an earlier age (before 60 years of age) while it is after 65 for the classic form known as sporadic. Neurological signs may be associated with progressive memory loss and behavior changes: spasticity, extrapyramidal signs paraparesis, seizures...

Treatment: symptomatic, cholinesterase inhibitors.

Anesthetic implications: 

dementia of varying severity, communication problems, assessment of the depth of anesthesia.

References : 

-         Quiroz YT, Chen K, Protas HD, Brickhouse M et al. 
Brain imaging and blood biomarkers abnormalities in children with autosomal dominant Alzheimer disease.
JAMA Neurol 2016: doi 10.1001/jamaneurol.2015.1099

Updated: November 2019