Extended FTLD pedigree segregating a Belgian GRN-null mutation : neuropathological heterogeneity in one family
Abstract: 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 present a revie... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2018 |
Schlagwörter: | Biology / Human medicine |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26527425 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://hdl.handle.net/10067/1483430151162165141 |