The GGGGCC Repeat Expansion inC9ORF72in a Case with Discordant Clinical and FDG-PET Findings: PET Trumps Syndrome
Year: 2012
Type: article
Study design: Case Report
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.
Source: Neurocase
Institutions: Mayo Clinic, Mayo Clinic in Florida
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: green
Awards: G104586243, G1052041916, Ethics of Surrogate Consent for Dementia Research, G3279029399, Alzheimers Disease Patient Registry, Evaluating and Extending Our Hypothetical Model of Alzheimer's Biomarkers, Progranulin: Mutation and Regulation in Neurodegenerative disease, Alzheimer's Disease Neuroimaging Initiative, The Frontotemporal Lobar Degeneration Neuroimaging Initiative, G750909364, Progranulin, TDP-43 and Cell Death, Mayo Alzheimer's Disease Research Center
OpenAlex ID: W2043912251