Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers.

ABSTRACT:

Objective

To evaluate poly(GP), a dipeptide repeat protein, and neurofilament light chain (NfL) as biomarkers in presymptomatic C9orf72 repeat expansion carriers and patients with C9orf72-associated frontotemporal dementia. Additionally, to investigate the relationship of poly(GP) with indicators of neurodegeneration as measured by NfL and grey matter volume.

Methods

We measured poly(GP) and NfL levels in cerebrospinal fluid (CSF) from 25 presymptomatic C9orf72 expansion carriers, 64 symptomatic expansion carriers with dementia, and 12 noncarriers. We explored associations with grey matter volumes using region of interest and voxel-wise analyses.

Results

Poly(GP) was present in C9orf72 expansion carriers and absent in noncarriers (specifici

SUBMITTER: Meeter LHH 

PROVIDER: S-EPMC5945959 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature