Early-onset familial Alzheimer disease
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.
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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.