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• W2023552962 abstract "We recently initiated a European consortium on early-onset dementia (EOD consortium) to centralize and harmonize clinical, epidemiological and biological data together with biomaterials across Europe and to stimulate high-profile translational research on early-onset dementia. Currently, the EOD consortium holds 40 partners from 16 EU-countries: Belgium-France-The Netherlands-UK-Germany-Austria-Portugal-Spain-Italy-Sweden-Finland-Denmark-Czech Republic-Bulgaria-Greece-Turkey. We and others recently associated the G4C2 repeat expansion mutation in the gene C9orf72 in FTLD and ALS patients with TDP43 pathology, explaining a substantial fraction of the genetic etiology of these diseases. In a first project, EOD consortium partners provided DNA and clinical information of FTLD and ALS patients for the genetic analysis of the C9orf72 repeat expansion. In 1059 patients, including 745 FTLD, 187 ALS, and 55 FTLD-ALS patients, the C9orf72 G4C2 expansion was analyzed by repeat-primed PCR and fluorescent fragment length analysis to determine the contribution of pathogenic C9orf72 repeat expansions and to map its distribution throughout Europe in relation to the 9p21 risk haplotype. The 9p21 risk haplotype was determined by genotyping rs2814707 as surrogate marker. Eighty-five patients carried a pathogenic expansion. In patients with a family history of dementia or MND, the relative contribution of C9orf72 was 9% in the FTLD patients, 41% in the ALS patients and 33% in the FTLD-ALS patients. Relative to the 9p21 risk haplotype, 100% of the C9orf72 expansion carriers carried at least one copy of the risk haplotype. A marked enrichment for the C9orf72 expanded repeat was observed in the Swedish subgroup with a frequency of 23%, which could reflect a Scandinavian founder effect. However, the haplotype prevalence of 28% at 9p21 was in the same range as the average European frequency of 29%. This consortium study provided frequency estimates for the C9orf72 repeat expansion mutation in a large cohort of over 1000 FTLD and ALS patients and its geographical distribution throughout Europe. Depending on the clinical sub-phenotype of the FTLD-ALS spectrum, expansion frequencies of over 40% were reached. In light of its high prevalence, the C9orf72 gene should be considered as a primary gene for genetic diagnostic testing in patients with a positive family history of FTLD and/or ALS." @default.
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• W2023552962 date "2012-07-01" @default.
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• W2023552962 title "O5-03-05: Geographical frequency of the FTLD-ALS causing C9orf72 repeat expansion mutation in an extended cohort ascertained within the European consortium on early-onset dementia" @default.
• W2023552962 doi "https://doi.org/10.1016/j.jalz.2012.05.1985" @default.
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