Brain Advance Access published online on October 9, 2006
Brain, doi:10.1093/brain/awl276
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
1 Linda C. Campbell Cognitive Neurology Research Unit, Sunnybrook Health Sciences Centre, Toronto, Canada; Department of Medicine, Division of Neurology, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, Canada
* To whom correspondence should be addressed. 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
Received August 4, 2006
Revised August 31, 2006
Accepted September 1, 2006
Article
Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome
Mario Masellis 1 *, Parastoo Momeni 2 *, Wendy Meschino 3, Reid Heffner Jr 4, Joshua Elder 2, Christine Sato 5, Yan Liang 5, Peter St George-Hyslop 6, John Hardy 2, Juan Bilbao 7, Sandra Black 1 *, and Ekaterina Rogaeva 8
2 Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA
3 Genetics Program, North York General Hospital, Toronto, Canada
4 Department of Pathology, University at Buffalo, State University of New York, Buffalo, NY, USA
5 Centre for Research in Neurodegenerative Diseases, Department of Medicine, University Health Network, Toronto, Canada
6 Department of Medicine, Division of Neurology, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, Canada; Centre for Research in Neurodegenerative Diseases, Department of Medicine, University Health Network, Toronto, Canada; Toronto Western Hospital Research Institute, University Health Network, Toronto, Canada
7 Department of Pathology, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, Canada
8 Department of Medicine, Division of Neurology, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, Canada; Centre for Research in Neurodegenerative Diseases, Department of Medicine, University Health Network, Toronto, Canada
Sandra Black, E-mail: sandra.black{at}sunnybrook.ca
Abstract 
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.
*These authors contributed equally to the work.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  F. Moreno, B. Indakoetxea, M. Barandiaran, A. Alzualde, A. Gabilondo, A. Estanga, J. Ruiz, M. Ruibal, A. Bergareche, J. F. Marti-Masso, et al. "Frontotemporoparietal" dementia: Clinical phenotype associated with the c.709-1G>A PGRN mutation Neurology, October 27, 2009; 73(17): 1367 - 1374. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Kertesz, R. D. Fealey, B. M. Keegan, and J. E. Parisi A 74-year-old woman with progressive right-hand tremor and inability to use her right side Neurology, October 27, 2009; 73(17): 1399 - 1405. [Full Text] [PDF]
|
|
|
|
 |
|
 B. F. Boeve and M. Hutton Refining Frontotemporal Dementia With Parkinsonism Linked to Chromosome 17: Introducing FTDP-17 (MAPT) and FTDP-17 (PGRN) Arch Neurol, April 1, 2008; 65(4): 460 - 464. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. D. Rohrer, J. D. Warren, R. Omar, S. Mead, J. Beck, T. Revesz, J. Holton, J. M. Stevens, S. Al-Sarraj, S. M. Pickering-Brown, et al. Parietal Lobe Deficits in Frontotemporal Lobar Degeneration Caused by a Mutation in the Progranulin Gene Arch Neurol, April 1, 2008; 65(4): 506 - 513. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. M. Pickering-Brown, S. Rollinson, D. Du Plessis, K. E. Morrison, A. Varma, A. M. T. Richardson, D. Neary, J. S. Snowden, and D. M. A. Mann Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations Brain, March 1, 2008; 131(3): 721 - 731. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. Beck, J. D. Rohrer, T. Campbell, A. Isaacs, K. E. Morrison, E. F. Goodall, E. K. Warrington, J. Stevens, T. Revesz, J. Holton, et al. A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series Brain, March 1, 2008; 131(3): 706 - 720. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
I. Le Ber, A. Camuzat, D. Hannequin, F. Pasquier, E. Guedj, A. Rovelet-Lecrux, V. Hahn-Barma, J. van der Zee, F. Clot, S. Bakchine, et al. Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study Brain, March 1, 2008; 131(3): 732 - 746. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. S. Shankaran, A. Capell, A. T. Hruscha, K. Fellerer, M. Neumann, B. Schmid, and C. Haass Missense Mutations in the Progranulin Gene Linked to Frontotemporal Lobar Degeneration with Ubiquitin-immunoreactive Inclusions Reduce Progranulin Production and Secretion J. Biol. Chem., January 18, 2008; 283(3): 1744 - 1753. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. S. Goldman, J. Adamson, A. Karydas, B. L. Miller, and M. Hutton New Genes, New Dilemmas: FTLD Genetics and Its Implications for Families American Journal of Alzheimer's Disease and Other Dementias, January 1, 2008; 22(6): 507 - 515. [Abstract] [PDF]
|
|
|
|
|
|
S. Davion, N. Johnson, S. Weintraub, M. -M. Mesulam, A. Engberg, M. Mishra, M. Baker, J. Adamson, M. Hutton, R. Rademakers, et al. Clinicopathologic correlation in PGRN mutations Neurology, September 11, 2007; 69(11): 1113 - 1121. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. Klein and V. Bonifati Dissecting the complexity of frontotemporal dementia: Genotypes, phenotypes, and phenocopies Neurology, July 10, 2007; 69(2): 129 - 130. [Full Text] [PDF]
|
|
|
|
|
|
A. C. Bruni, P. Momeni, L. Bernardi, C. Tomaino, F. Frangipane, J. Elder, T. Kawarai, C. Sato, S. Pradella, Y. Wakutani, et al. Heterogeneity within a large kindred with frontotemporal dementia: A novel progranulin mutation Neurology, July 10, 2007; 69(2): 140 - 147. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Hasegawa, T. Arai, H. Akiyama, T. Nonaka, H. Mori, T. Hashimoto, M. Yamazaki, and K. Oyanagi TDP-43 is deposited in the Guam parkinsonism-dementia complex brains Brain, May 1, 2007; 130(5): 1386 - 1394. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. B. Leverenz, C. E. Yu, T. J. Montine, E. Steinbart, L. M. Bekris, C. Zabetian, L. K. Kwong, V. M-Y. Lee, G. D. Schellenberg, and T. D. Bird A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology Brain, May 1, 2007; 130(5): 1360 - 1374. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. L. Whitwell, C. R. Jack Jr, J. E. Parisi, D. S. Knopman, B. F. Boeve, R. C. Petersen, T. J. Ferman, D. W. Dickson, and K. A. Josephs Rates of cerebral atrophy differ in different degenerative pathologies Brain, April 1, 2007; 130(4): 1148 - 1158. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Goedert and M. G. Spillantini Frontotemporal lobar degeneration through loss of progranulin function. Brain, November 1, 2006; 129(Pt 11): 2808 - 2810. [Full Text] [PDF]
|
|