Extended FTLD pedigree segregating a Belgian GRN-null mutation: neuropathological heterogeneity in one family
Abstract Background In this paper, we describe the clinical and neuropathological findings of nine members of the Belgian progranulin gene (GRN) founder family. In this family, the loss-of-function mutation IVS1 + 5G > C was identified in 2006. In 2007, a clinical description of the mutation carriers was published that revealed the clinical heterogeneity among IVS1 + 5G > C carriers. We report our comparison of our data with the published clinical and neuropathological characteristics of other GRN mutations as well as other frontotemporal lobar degeneration (FTLD) syndromes, and we prese... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2018 |
Reihe/Periodikum: | Alzheimer’s Research & Therapy, Vol 10, Iss 1, Pp 1-13 (2018) |
Verlag/Hrsg.: |
BMC
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Schlagwörter: | Frontotemporal lobar degeneration / FTLD / FTD-GRN / FTLD-TDP / Frontotemporal dementia / FTD / Neurosciences. Biological psychiatry. Neuropsychiatry / RC321-571 / Neurology. Diseases of the nervous system / RC346-429 |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26520790 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://doi.org/10.1186/s13195-017-0334-y |