Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort
TANK-binding kinase 1 (TBK1) loss-of-function (LoF) mutations are known to cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), often combined with memory deficits early in the disease course. We performed targeted resequencing of TBK1 in 1253 early onset Alzheimer's disease (EOAD) patients from 8 European countries to investigate whether pathogenic TBK1 mutations are enriched among patients with clinical diagnosis of EOAD. Variant frequencies were compared against 2117 origin-matched controls. We identified only 1 LoF mutation (p.Thr79del) in a patient clinically diagn... Mehr ...
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Dokumenttyp: | journalarticle |
Erscheinungsdatum: | 2018 |
Schlagwörter: | Medicine and Health Sciences / Biology and Life Sciences / Early onset Alzheimer's disease / TBK1 / Loss-of-function / Frontotemporal dementia / RNA sequencing / AMYOTROPHIC-LATERAL-SCLEROSIS / BINDING KINASE 1 / BELGIAN COHORT / MUTATIONS / IMMUNITY |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26528955 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://biblio.ugent.be/publication/8547397 |