Case Report of a 63-Year-Old Patient With Alzheimer Disease and a Novel Presenilin 2 Mutation
Abstract
E arly onset Alzheimer disease (EOAD) is a neurodegenerative dementing disorder that is relatively rare (< 1% of all Alzheimer cases). Various genetic mutations of the presenilin 1 (PSEN1) and presenilin 2 (PSEN2) as well as the amyloid precursor protein (APP) gene have been implicated. Mutations of PSEN1 and PSEN2 alter γ-secretase enzyme that cleaves APP resulting in increase in the relative amount of the more amyloidogenic Aβ42 that is produced.1 PSEN2 has been less studied than PSEN1 and fewer mutations are known. Here, we report a case of a 63-yearold woman (at the time of death) with the clinical history consistent with Alzheimer D, an autopsy with brain histopathology supporting Alzheimer disease (AD), congophylic angiopathy, and Lewy Body pathology, and whose medical genetic testing reveals a novel PSEN2 mutation of adenosine replacing cytosine at codon 222, nucleotide position 665 (lysine replacing threonine) that has never been previously reported. This suggests that genetic testing may be useful in older patients with mixed pathology.
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