Journal
DEMENTIA AND GERIATRIC COGNITIVE DISORDERS EXTRA
Volume 3, Issue 1, Pages 251-262Publisher
KARGER
DOI: 10.1159/000351859
Keywords
Association study; Clinical features; Frontotemporal dementia; Frontotemporal lobar degeneration; Genetics
Categories
Funding
- Finnish Medical Foundation
- Health Care Foundation of Northern Finland
- EVO grants from the Oulu University Hospital
- Intramural Research Programs of the NIH
- National Institute on Aging [Z01-AG000949-02]
- ALS Association
- AriSLA
- Packard Center for ALS research
- FIGC
- Microsoft Research
- Myasthenia Gravis Foundation
- Finnish Medical Society Duodecim
- NATIONAL INSTITUTE ON AGING [ZIAAG000934, Z01AG000949] Funding Source: NIH RePORTER
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Background: The most common genetic cause of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) has been linked to a hexanucleotide repeat expansion in the C9ORF72 gene. The frequency of the C9ORF72 expansion in Finland is among the highest in the world. Methods: We assessed 73 Finnish patients with FTLD in order to examine the clinical characteristics associated with the expanded C9ORF72. Demographic and clinical features were evaluated. As a potential disease modifier, the apolipoprotein E (APOE) genotype was also assessed. Neuropathological analysis was available on 2 expansion carriers and 1 non-carrier. Results: The C9ORF72 expansion was present in 20 of 70 (29%) probands. Significant associations with the C9ORF72 expansion were observed for concomitant ALS and positive family history of dementia or ALS. Psychoses were detected in both carriers and non-carriers (21 vs. 10%, p = 0.25). The APOE epsilon 4 allele did not cluster among expansion carriers. Numerous p62-positive neuronal inclusions were detected in the cerebellar cortex of the 2 expansion carriers. Conclusion: In line with the suggested C9ORF72 core phenotype, we also detected a high frequency of neuropsychiatric symptoms; however, these symptoms seem not be specific to C9ORF72-associated FTLD. FTLD should be considered in cases of middleage- onset psychosis. (C) 2013 S. Karger AG, Basel
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