Early-onset familial Alzheimer disease
Citation, DOI, disclosures and case data
At the time the case was submitted for publication Chee Kok Yoon had no recorded disclosures.View Chee Kok Yoon's current disclosures
55 years old female with 2-3 years history of deterioration in language function (mostly word-finding difficulty) and episodic memory impairment. Unable to function in work and ADL 3 years after the onset of symptom. Very strong family history of AD. No medical risk factor.
Loading Stack -
0 images remaining
Normal hippocampal volume. Mild frontal lobe atrophy, left more than right.
Although the brain MRI is unremarkable, PET-CT was consistent with AD. Genetic mutational analysis showed heterozygous amyloid precursor protein (APP) and presenilin 2 (PSEN2) mutations, both of which have been linked to early onset Alzheimer's disease and FTLD.
- Krüger J, Moilanen V, Majamaa K et-al. Molecular genetic analysis of the APP, PSEN1, and PSEN2 genes in Finnish patients with early-onset Alzheimer disease and frontotemporal lobar degeneration. Alzheimer Dis Assoc Disord. 2012;26 (3): 272-6. doi:10.1097/WAD.0b013e318231e6c7 - Pubmed citation