Progranulin mutations as risk factors for Alzheimer disease
DC Perry, M Lehmann, JS Yokoyama… - JAMA …, 2013 - jamanetwork.com
Importance Mutations in the progranulin gene are known to cause diverse clinical
syndromes, all attributed to frontotemporal lobar degeneration. We describe 2 patients with
progranulin gene mutations and evidence of Alzheimer disease (AD) pathology. We also
conducted a literature review. Observations This study focused on case reports of 2
unrelated patients with progranulin mutations at the University of California, San Francisco,
Memory and Aging Center. One patient presented at age 65 years with a clinical syndrome …
syndromes, all attributed to frontotemporal lobar degeneration. We describe 2 patients with
progranulin gene mutations and evidence of Alzheimer disease (AD) pathology. We also
conducted a literature review. Observations This study focused on case reports of 2
unrelated patients with progranulin mutations at the University of California, San Francisco,
Memory and Aging Center. One patient presented at age 65 years with a clinical syndrome …