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• W2022934554 abstract "Hexanucleotide expansion intronic to chromosome 9 open reading frame 72 (C9ORF72) has recently been identified as the most common genetic cause of both familial and sporadic amyotrophic lateral sclerosis and of frontotemporal dementia with or without concomitant motor neuron disease. Given the common frequency of this genetic aberration, clinicians seek to identify neuroimaging hallmarks characteristic of C9ORF72-associated disease, both to provide a better understanding of the underlying degenerative patterns associated with this mutation and to enable better identification of patients for genetic screening and diagnosis. A survey of the literature describing C9ORF72 neuroimaging thus far suggests that patients with this mutation may demonstrate symmetric frontal and temporal lobe, insular, and posterior cortical atrophy, although temporal involvement may be less than that seen in other mutations. Some studies have also suggested cerebellar and thalamic involvement in C9ORF72-associated disease. Diffuse cortical atrophy that includes anterior as well as posterior structures and subcortical involvement thus may represent unique features of C9ORF72." @default.
• W2022934554 created "2016-06-24" @default.
• W2022934554 creator A5061594637 @default.
• W2022934554 creator A5072009949 @default.
• W2022934554 date "2012-01-01" @default.
• W2022934554 modified "2023-10-18" @default.
• W2022934554 title "Neuroimaging features of C9ORF72 expansion" @default.
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• W2022934554 doi "https://doi.org/10.1186/alzrt148" @default.
• W2022934554 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3580454" @default.
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