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Abstract
A hexanucleotide repeat expansion in the chromosome 9 open reading frame 72 (C9ORF72) gene was recently discovered as the cause underlying frontotemporal degeneration (FTD) and/or amyotrophic lateral sclerosis (ALS) linked to chromosome 9 (c9FTD/ALS). In this atypical case of c9FTD/ALS, the proband presented with amnestic mild cognitive impairment which evolved into Alzheimer’s disease (AD)-type dementia and later developed ALS. Fluorodeoxyglucose-positron emission tomography of the brain demonstrated mild hypometabolism involving the medial frontal and lateral temporal lobes, left more so than right, which progressed over time. He was subsequently confirmed to have the C9ORF72 expansion. This report highlights the need to consider mutations in the FTD-associated genes when a familial disorder is suggested and neuroimaging studies reveal findings atypical of an AD pathophysiological process despite the typical anterograde amnestic syndrome.
This work was supported by the “Mayo Alzheimer’s Disease Research Center” (P50 AG016574), the “Identifying Mechanisms of Dementia: Role for MRI in the Era of Molecular Imaging” (RO1 AG011378), the ALS Association (R.R), and the Robert H. and Clarice Smith and Abigail Van Buren Alzheimer’s Disease Research Program of the Mayo Foundation. R.R. is also funded by NIH grants R01 NS065782 and R01 AG026251.
We thank the patient and his family for participating in aging and neurodegenerative disease research.
Disclosures:
Dr Adeli – nothing to disclose
Dr Savica – nothing to disclose
Dr Knopman serves as Deputy Editor for Neurology®; has served on a data safety monitoring board for Eli Lilly and Company; has served as a consultant for Elan/Janssen AI; is an investigator in clinical trials sponsored by Elan/Janssen AI, Baxter International Inc., and Forest Laboratories, Inc.; and receives research support from the NIH (R01 AG011378 [Coinvestigator], P50 AG016574 [Coinvestigator], U01 AG006786 [Coinvestigator], AG029550 [Coinvestigator], AG032306 [Coinvestigator], and U01 096917 [Coinvestigator]).
Dr Vemuri – nothing to disclose
Ms DeJesus-Hernandez – nothing to disclose
Dr Rademakers – nothing to disclose
Dr Fields – nothing to disclose
Dr Crum – nothing to disclose
Dr Jack serves on scientific advisory boards for Elan/Janssen AI, Eli Lilly & Company, GE Health-care, and Eisai Inc.; receives research support from Baxter International Inc., Allon Therapeutics, Inc., Pfizer Inc, the NIH/NIA (R01 AG011378 [Principal investigator], P50 AG016574 [Coinves-tigator]), and the Alexander Family Alzheimer’s Disease Research Professorship of the Mayo Foundation; and holds stock/stock options in Johnson & Johnson.
Dr Lowe serves on scientific advisory boards for Bayer Schering Pharma receives research support from GE Healthcare, Siemens Molecular Imaging, AVID Radiopharmaceuticals, the NIH (NIA, NCI), the MN Partnership for Biotechnology and Medical Genomics, and the Leukemia & Lymphoma Society.
Dr Petersen serves on Safety Monitoring Committees for Elan Pharmaceuticals, Wyeth Pharmaceuticals, and as a consultant for Elan Pharmaceuticals and GE Healthcare; receives royalties from the publication of a book entitled Mild Cognitive Impairment (Oxford University Press, 2003); and receives research support from the NIH (P50 AG016574 [Principal Investigator], U01 AG006786 [Principal Investigator], R01 AG011378 [Coinvestigator], and U01 AG024904 [Coinvestigator]).
Dr Boeve serves as an investigator for clinical trials sponsored by Cephalon, Inc., Allon Pharmaceuticals, and GE Healthcare; receives royalties from the publication of a book entitled Behavioral Neurology Of Dementia (Cambridge Medicine, 2009); and receives research support from the NIH (P50 AG016574 [Coinvestigator], U01 AG006786 [Coinvestigator], and R01 AG032306 [Coinvestigator]), and the Mangurian Foundation.