The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.

ABSTRACT:

Background

Mutation in the progranulin gene (GRN) can cause frontotemporal dementia (FTD). However, it is unclear whether some rare FTD-related GRN variants are pathogenic and whether neurodegenerative disorders other than FTD can also be caused by GRN mutations.

Objectives

To delineate the range of clinical presentations associated with GRN mutations and to define pathogenic candidacy of rare GRN variants.

Design

Case-control study.

Setting

Clinical and neuropathology dementia research studies at 8 academic centers.

Participants

Four hundred thirty-four patients with FTD, including primary progressive aphasia, semantic dementia, FTD/amyotrophic lateral sclerosis (ALS), FTD/motor neuron disease, corticobasal syndrome/corticobasal degeneration, progressiv

SUBMITTER: Yu CE 

PROVIDER: S-EPMC2901991 | biostudies-literature | 2010 Feb

REPOSITORIES: biostudies-literature