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J Neurol Neurosurg Psychiatry. 2014 Jun;85(6):684-91. doi: 10.1136/jnnp-2013-305972. Epub 2013 Dec 4.

Plasma phosphorylated TDP-43 levels are elevated in patients with frontotemporal dementia carrying a C9orf72 repeat expansion or a GRN mutation.

Author information

1
Neurology Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, , Barcelona, Spain.

Abstract

OBJECTIVES:

About a half of patients with frontotemporal dementia (FTD) has deposition of phosphorylated TDP-43 protein (pTDP-43) in the brain. We studied pTDP-43 and total TDP-43 levels in plasma and cerebrospinal fluid (CSF) in healthy controls and patients with FTD, including those carrying a repeat expansion in the C9orf72 gene or a mutation in GRN.

METHODS:

We included 88 plasma samples of 10 C9orf72 expansion carriers, 5 GRN mutation carriers, 51 patients with FTD without a known mutation and 22 healthy controls. We also obtained CSF samples from 25 patients with FTD (2 with C9orf72 expansion and 3 with a GRN mutation) and 22 healthy controls. We measured pTDP-43 and total TDP-43 levels using sandwich ELISA.

RESULTS:

Patients carrying the C9orf72 repeat expansion or a GRN mutation had significantly higher plasma and CSF levels of pTDP-43 than the remaining patients with FTD (p<0.05). In addition, plasma pTDP-43 levels were higher in patients with FTD carrying a C9orf72 expansion or GRN mutations than in healthy controls (p<0.05).

CONCLUSIONS:

Our study shows that plasma pTDP-43 levels may be increased in some genetic forms of FTD known to be associated with TDP-43 proteinopathies.

KEYWORDS:

ALS; CSF; DEMENTIA; FRONTAL LOBE; GENETICS

PMID:
24309270
DOI:
10.1136/jnnp-2013-305972
[Indexed for MEDLINE]

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