The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome
Abstract
Corticobasal syndrome (CBS) is a rare cognitive and movement disorder characterized by asymmetric rigidity, apraxia, alien-limb phenomenon, cortical sensory loss, myoclonus, focal dystonia, and dementia. It occurs along the clinical spectrum of frontotemporal lobar degeneration (FTLD), which has recently been shown to segregate with truncating mutations in progranulin (PGRN), a multifunctional growth factor thought to promote neuronal survival. This study identifies a novel splice donor site mutation in the PGRN gene (IVS7+1G-->A) that segregates with CBS in a Canadian family of Chinese origin. We confirmed the absence of the mutant PGRN allele in the RT-PCR product which supports the model of haploinsufficiency for PGRN-linked disease. This report of mutation in the PGRN gene in CBS extends the evidence for genetic and phenotypic heterogeneity in FTLD spectrum disorders.
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Cites
Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
Hutton, M., Lendon, C. L., Rizzu, P., Baker, M., Froelich, S., Houlden, H., Pickering-Brown, S., Chakraverty, S., Isaacs, A., Grover, A., et al. (1998) · Nature · doi:10.1038/31508 · Cited by 3,498
Self-citationMutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
Baker, M., Mackenzie, I. R., Pickering-Brown, S. M., Gass, J., Rademakers, R., Lindholm, C., Snowden, J., Adamson, J., Sadovnick, A. D., Rollinson, S., et al. (2006) · Nature · doi:10.1038/nature05016 · Cited by 2,058
Cruts, M., Gijselinck, I., van der Zee, J., Engelborghs, S., Wils, H., Pirici, D., Rademakers, R., Vandenberghe, R., Dermaut, B., Martin, J.-J., et al. (2006) · Nature · doi:10.1038/nature05017 · Cited by 1,512
Mutation in the tau gene in familial multiple system tauopathy with presenile dementia
Spillantini, M. G., Murrell, J. R., Goedert, M., Farlow, M. R., Klug, A., & Ghetti, B. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.13.7737 · Cited by 1,474
Tau is a candidate gene for chromosome 17 frontotemporal dementia
Poorkaj, P., Bird, T. D., Wijsman, E., Nemens, E., Garruto, R. M., Anderson, L., Andreadis, A., Wiederholt, W. C., Raskind, M., & Schellenberg, G. D. (1998) · Annals of Neurology · doi:10.1002/ana.410430617 · Cited by 1,374
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
Skibinski, G., Parkinson, N. J., Brown, J. M., Chakrabarti, L., Lloyd, S. L., Hummerich, H., Nielsen, J. E., Hodges, J. R., Spillantini, M. G., Thusgaard, T., et al. (2005) · Nature Genetics · doi:10.1038/ng1609 · Cited by 822
Frontotemporal Dementia and Corticobasal Degeneration in a Family with a P301S Mutation in Tau
Bugiani, O., Murrell, J. R., Giaccone, G., Hasegawa, M., Ghigo, G., Tabaton, M., Morbin, M., Primavera, A., Carella, F., Solaro, C., et al. (1999) · Journal of Neuropathology and Experimental Neurology · doi:10.1097/00005072-199906000-00011 · Cited by 450
Cited by
Criteria for the diagnosis of corticobasal degeneration
Armstrong, M. J., Litvan, I., Lang, A. E., Bak, T. H., Bhatia, K. P., Borroni, B., Boxer, A. L., Dickson, D. W., Grossman, M., Hallett, M., et al. (2013) · Neurology · doi:10.1212/wnl.0b013e31827f0fd1 · Cited by 1,904
Clinical, 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
Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics
Whitwell, J. L., Weigand, S. D., Boeve, B. F., Senjem, M. L., Gunter, J. L., DeJesus-Hernandez, M., Rutherford, N. J., Baker, M., Knopman, D. S., Wszolek, Z. K., et al. (2012) · Brain · doi:10.1093/brain/aws001 · Cited by 397
Does corticobasal degeneration exist? A clinicopathological re-evaluation
Ling, H., O'Sullivan, S. S., Holton, J. L., Revesz, T., Massey, L. A., Williams, D. R., Paviour, D. C., & Lees, A. J. (2010) · Brain · doi:10.1093/brain/awq123 · Cited by 394
Yu, C.-E., Bird, T. D., Bekris, L. M., Montine, T. J., Leverenz, J. B., Steinbart, E., Galloway, N. M., Feldman, H., Woltjer, R., Miller, C. A., et al. (2010) · Archives of Neurology · doi:10.1001/archneurol.2009.328 · Cited by 190
Metadata
- Authors
- Masellis, M., Momeni, P., Meschino, W., Heffner, R., Elder, J., Sato, C., Liang, Y., George-Hyslop, P. S., Hardy, J., Bilbao, J., Black, S., & Rogaeva, E.
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2006-09-29
- Volume
- 129
- Issue
- 11
- Pages
- 3115-3123
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- OpenAlex
- W2136729000
- Cited by
- 195
- References
- 7
- FWCI
- 15.89
- Type
- journal article
- Language
- en
- Open access
- closed
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- Masellis, M., Momeni, P., Meschino, W., Heffner, R., Elder, J., Sato, C., Liang, Y., George-Hyslop, P. S., Hardy, J., Bilbao, J., Black, S., & Rogaeva, E. (2006). Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome. Brain. https://doi.org/10.1093/brain/awl276
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
