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 present a review of the literature.

Methods

For each case, standardized sampling and staining were performed to identify proteinopathies, cerebrovascular disease, and hippocampal sclerosis.

Results

SUBMITTER: Sieben A 

PROVIDER: S-EPMC6389176 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature