Clinical features of TBKI carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort
We identified in a cohort of patients with frontotemporal dementia (n = 481) or amyotrophic lateral sclerosis (n = 147), 10 index patients carrying a TBK1 loss of function mutation reducing TBK1 expression by 50%. Here, we describe the clinical and pathological characteristics of the 10 index patients and six of their affected relatives carrying a TBK1 mutation. Six TBK1 carriers were diagnosed with frontotemporal dementia, seven with amyotrophic lateral sclerosis, one with both clinical phenotypes and two with dementia unspecified. The mean age at onset of all 16 TBK1 carriers was 62.1 +/- 8.... Mehr ...
Verfasser: | |
---|---|
Dokumenttyp: | journalarticle |
Erscheinungsdatum: | 2016 |
Schlagwörter: | Medicine and Health Sciences / Biology and Life Sciences / TBK1 / frontotemporal lobar degeneration / amyotrophic lateral sclerosis / C9orf72 / genotype-phenotype correlations / AMYOTROPHIC-LATERAL-SCLEROSIS / REPEAT EXPANSION / SQSTM1 MUTATIONS / DEMENTIA / PROGRANULIN / SPECTRUM / MAPT / FTLD / TAU |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26528908 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://biblio.ugent.be/publication/8507667 |