C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts.

ABSTRACT:

Objective

To determine the frequency of a hexanucleotide repeat expansion in C9ORF72, a gene of unknown function implicated in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), in Australian FTD patient cohorts and to examine the clinical and neuropathologic phenotypes associated with this expansion.

Methods

We examined a clinically ascertained FTD cohort (n = 89) and a neuropathologically ascertained cohort of frontotemporal lobar degeneration cases with TDP-43 pathology (FTLD-TDP) (n = 22) for the C9ORF72 hexanucleotide repeat expansion using a repeat primed PCR assay. All expansion-positive patients were genotyped for rs3849942, a surrogate marker for the chromosome 9p21 risk haplotype previously associated with FTD and ALS.

Results

The C9ORF72

SUBMITTER: Dobson-Stone C 

PROVIDER: S-EPMC3430710 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature