ExpandedC9ORF72Hexanucleotide Repeat in Depressive Pseudodementia
Year: 2014
Type: article
Study design: Observational Study
Abstract: IMPORTANCE: Expanded hexanucleotide repeats in C9ORF72 are a common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis. Repeat expansions have also been detected infrequently in other disorders, including Alzheimer disease, dementia with Lewy bodies, and parkinsonian disorders. OBSERVATIONS: A consecutive series of 31 cases from the brain bank for neurodegenerative disorders at Mayo Clinic was screened to assess the incidence of the expanded C9ORF72 repeat in cases of depressive pseudodementia. The presence of the hexanucleotide repeat was established using immunohistochemistry with a highly disease-specific antibody (C9RANT), and was further validated in carriers using repeat-primed polymerase chain reaction and Southern blotting. Two individuals harbored the C9ORF72 repeat expansion. Both patients were men with refractory depression. One patient experienced drug-induced parkinsonism and sudden-onset dementia, while the other patient had a more insidious disease course suspected to be Alzheimer disease. CONCLUSIONS AND RELEVANCE: This report increases the range of clinicopathologic presentations of C9ORF72 expanded hexanucleotide repeat to include psychiatric disorders such as depressive pseudodementia.
Source: JAMA Neurology
Institutions: Mayo Clinic, Mayo Clinic in Florida
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: green
Awards: TDP-43, RNA Metabolism, and ALS/FTD Pathology, Misregulation of the TDP-43 RNA target, Sortilin, in neurodegeneration, Einstein Aging Study, Stress Granules and the Biology of TDP-43, G5562212462, RNA foci in C9FTD/ALS, GGGGCC hexanucleotide repeat expansions in neurodegenerative disease, Progranulin, TDP-43 and Cell Death, Genetics and Molecular Biology of Parkinsonism, G8569069536, Mayo Alzheimer's Disease Research Center
OpenAlex ID: W2039279752