The DOI matches its Crossref record; 42 of the 42 references it cites were found in a registry or an index.
Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members
Open accessAbstract
Mutations in the progranulin gene (GRN) are an important cause of frontotemporal lobar degeneration (FTLD) with ubiquitin and TAR DNA-binding protein 43 (TDP43)-positive pathology. The clinical presentation associated with GRN mutations is heterogeneous and may include clinical probable Alzheimer's disease. All GRN mutations identified thus far cause disease through a uniform disease mechanism, i.e. the loss of functional GRN or haploinsufficiency. To determine if expression of GRN in plasma could predict GRN mutation status and could be used as a biological marker, we optimized a GRN ELISA and studied plasma samples of a consecutive clinical FTLD series of 219 patients, 70 control individuals, 72 early-onset probable Alzheimer's disease patients and nine symptomatic and 18 asymptomatic relatives of GRN mutation families. All FTLD patients with GRN loss-of-function mutations showed significantly reduced levels of GRN in plasma to about one third of the levels observed in non-GRN carriers and control individuals (P < 0.001). No overlap in distributions of GRN levels was observed between the eight GRN loss-of-function mutation carriers (range: 53-94 ng/ml) and 191 non-GRN mutation carriers (range: 115-386 ng/ml). Similar low levels of GRN were identified in asymptomatic GRN mutation carriers. Importantly, ELISA analyses also identified one probable Alzheimer's disease patient (1.4%) carrying a loss-of-function mutation in GRN. Biochemical analyses further showed that the GRN ELISA only detects full-length GRN, no intermediate granulin fragments. This study demonstrates that using a GRN ELISA in plasma, pathogenic GRN mutations can be accurately detected in symptomatic and asymptomatic carriers. The approximately 75% reduction in full-length GRN, suggests an unbalanced GRN metabolism in loss-of-function mutation carriers whereby more GRN is processed into granulins. We propose that plasma GRN levels could be used as a reliable and inexpensive tool to identify all GRN mutation carriers in early-onset dementia populations and asymptomatic at-risk individuals.
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Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis
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Self-citationMutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
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The logopenic/phonological variant of primary progressive aphasia
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Conversion of Proepithelin to Epithelins
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Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration
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Self-citationClinical, genetic and pathological heterogeneity of frontotemporal dementia: A review
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Sortilin-Mediated Endocytosis Determines Levels of the Frontotemporal Dementia Protein, Progranulin
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Behavioural-variant frontotemporal dementia: diagnosis, clinical staging, and management
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Metadata
- Authors
- Finch, N., Baker, M., Crook, R., Swanson, K., Kuntz, K., Surtees, R., Bisceglio, G., Rovelet-Lecrux, A., Boeve, B., Petersen, R. C., Dickson, D. W., Younkin, S. G., Deramecourt, V., Crook, J., Graff-Radford, N. R., & Rademakers, R.
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2009-01-21
- Volume
- 132
- Issue
- 3
- Pages
- 583-591
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- OpenAlex
- W2001811842
- Cited by
- 386
- References
- 42
- FWCI
- 18.75
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Finch, N., Baker, M., Crook, R., Swanson, K., Kuntz, K., Surtees, R., Bisceglio, G., Rovelet-Lecrux, A., Boeve, B., Petersen, R. C., Dickson, D. W., Younkin, S. G., Deramecourt, V., Crook, J., Graff-Radford, N. R., & Rademakers, R. (2009). Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members. Brain. https://doi.org/10.1093/brain/awn352
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