The DOI matches its Crossref record; 21 of the 21 references it cites were found in a registry or an index.
Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration
Abstract
Background: Mutations in the progranulin gene (PGRN) were identified as the causal mechanism underlying frontotemporal lobar degeneration (FTLD). Most of these mutations are predicted to create null alleles leading to a 50% loss of progranulin transcript. Methods: Patients underwent clinical and neurologic examination at the Memory Clinic of the IRCCS S. Giovanni di Dio-Fatebenefratelli, Brescia, Italy. We enrolled affected (n = 6) and unaffected at risk members (n = 73) of families carrying the FTLD associated progranulin Leu271LeufsX10 mutation; additionally, we included subjects affected by sporadic/familial FTLD (n = 65), controls (n = 75), and a family carrying the tau P301L mutation. The presence of mutations in PGRN and MAPT genes was investigated by direct sequencing of exonic and flanking intronic regions. Progranulin plasma and CSF levels were measured using ELISA. Results: We demonstrated that progranulin protein is strongly reduced (up to 3.93-fold) both in plasma and CSF of affected and unaffected subjects carrying mutations in progranulin gene (PGRN Leu271LeufsX10 and Q341X). We established a plasma progranulin protein cutoff level of 74.4 ng/mL that identifies, with specificity and sensitivity of 100%, mutation carriers among unaffected subjects. In FTLD, values ≤110.9 ng/mL give a specificity of 92.8% and a sensitivity of 100% for PGRN mutations. Conclusions: We propose the dosage of plasma progranulin as a useful tool for a quick and inexpensive large-scale screening of carriers of progranulin mutations and for monitoring future treatments that might boost the level of this protein. GLOSSARY: FTD = frontotemporal dementia; FTLD = frontotemporal lobar degeneration; PPA = primary nonfluent aphasia.
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Cites
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Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
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Cited by
Lui, H., Zhang, J., Makinson, S. R., Cahill, M. K., Kelley, K. W., Huang, H.-Y., Shang, Y., Oldham, M. C., Martens, L. H., Gao, F., et al. (2016) · Cell · doi:10.1016/j.cell.2016.04.001 · Cited by 729
Self-citationClinical, genetic and pathological heterogeneity of frontotemporal dementia: A review
Seelaar, H., Rohrer, J. D., Pijnenburg, Y. A. L., Fox, N. C., & van Swieten, J. C. (2011) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp.2010.212225 · Cited by 609
Sortilin-Mediated Endocytosis Determines Levels of the Frontotemporal Dementia Protein, Progranulin
Hu, F., Padukkavidana, T., Vægter, C. B., Brady, O. A., Zheng, Y., Mackenzie, I. R., Feldman, H. H., Nykjaer, A., & Strittmatter, S. M. (2010) · Neuron · doi:10.1016/j.neuron.2010.09.034 · Cited by 536
Behavioural-variant frontotemporal dementia: diagnosis, clinical staging, and management
Piguet, O., Hornberger, M., Mioshi, E., & Hodges, J. R. (2011) · The Lancet Neurology · doi:10.1016/s1474-4422(10)70299-4 · Cited by 496
Finch, N., Baker, M., Crook, R., Swanson, K., Kuntz, K., Surtees, R., Bisceglio, G., Rovelet-Lecrux, A., Boeve, B., Petersen, R. C., et al. (2009) · Brain · doi:10.1093/brain/awn352 · Cited by 386
Metadata
- Authors
- Ghidoni, R., Benussi, L., Glionna, M., Franzoni, M., & Binetti, G.
- Venue
- Neurology
- Published
- 2008-10-14
- Volume
- 71
- Issue
- 16
- Pages
- 1235-1239
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W2125044837
- Cited by
- 299
- References
- 21
- FWCI
- 12.18
- Type
- journal article
- Language
- en
- Open access
- closed
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- Ghidoni, R., Benussi, L., Glionna, M., Franzoni, M., & Binetti, G. (2008). Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration. Neurology. https://doi.org/10.1212/01.wnl.0000325058.10218.fc
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