Mutation analysis of C9orf72 in patients with corticobasal syndrome

被引：13

作者：

Anor, Cassandra J. ^{[1
]}

Xi, Zhengrui ^{[1
]}

Zhang, Ming ^{[1
]}

Moreno, Danielle ^{[1
]}

Sato, Christine ^{[1
]}

Rogaeva, Ekaterina ^{[1
,2
]}

Tartaglia, Maria Carmela ^{[1
,3
]}

机构：

[1] Univ Toronto, Tanz Ctr Res Neurodegenerat Dis, Toronto, ON, Canada

[2] Univ Toronto, Dept Med, Div Neurol, Toronto, ON, Canada

[3] Univ Hlth Network, Memory Clin, Div Neurol, Toronto, ON, Canada

来源：

NEUROBIOLOGY OF AGING | 2015年 / 36卷 / 10期

关键词：

C9orf72; Corticobasal syndrome; oral stereotypies; HEXANUCLEOTIDE REPEAT EXPANSION; DEGENERATION; ALS;

D O I：

10.1016/j.neurobiolaging.2015.06.008

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

Corticobasal syndrome (CBS) is a neurodegenerative disease characterized by progressive asymmetrical rigidity and apraxia, cortical sensory loss, myoclonus, dystonia, and cognitive impairment. CBS is usually sporadic and associated with tau pathology but there are reports of TDP-43 pathology. We screened 39 CBS cases to determine if any of the cases could be explained by a G(4)C(2)-repeat expansion in a noncoding region of C9orf72 gene, the most common genetic cause of frontotemporal lobar degeneration and amyotrophic lateral sclerosis. One patient with CBS had a large (>50 repeats) expansion in C9orf72. Our case features a 63-year-old right-handed woman who developed mild apathy 9 years before presentation, which progressed to include behavioral symptoms, oral stereotypies, significant language impairment, parkinsonism and apraxia. A magnetic resonance imaging acquired at age 60 years, that is, 6 years after disease onset revealed significant asymmetric left > right frontotemporal atrophy, including orbitofrontal and parietal areas. Her father developed a behavioral syndrome and died at an early age. This case highlights the importance of genetic screening for C9orf72 in patients with CBS. (C) 2015 Elsevier Inc. All rights reserved.

引用

页码：2905.e1 / 2905.e5

页数：5

共 16 条

[1] Criteria for the diagnosis of corticobasal degeneration [J].

Armstrong, Melissa J. ;

Litvan, Irene ;

Lang, Anthony E. ;

Bak, Thomas H. ;

Bhatia, Kailash P. ;

Borroni, Barbara ;

Boxer, Adam L. ;

Dickson, Dennis W. ;

Grossman, Murray ;

Hallett, Mark ;

Josephs, Keith A. ;

Kertesz, Andrew ;

Lee, Suzee E. ;

Miller, Bruce L. ;

Reich, Stephen G. ;

Riley, David E. ;

Tolosa, Eduardo ;

Troester, Alexander I. ;

Vidailhet, Marie ;

Weiner, William J. .

NEUROLOGY, 2013, 80 (05) :496-503

[2] Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS [J].

Ash, Peter E. A. ;

Bieniek, Kevin F. ;

Gendron, Tania F. ;

Caulfield, Thomas ;

Lin, Wen-Lang ;

DeJesus-Hernandez, Mariely ;

van Blitterswijk, Marka M. ;

Jansen-West, Karen ;

Paul, Joseph W., III ;

Rademakers, Rosa ;

Boylan, Kevin B. ;

Dickson, Dennis W. ;

Petrucelli, Leonard .

NEURON, 2013, 77 (04) :639-646

[3] Corticobasal degeneration and its relationship to progressive supranuclear palsy and frontotemporal dementia [J].

Boeve, BF ;

Lang, AE ;

Litvan, I .

ANNALS OF NEUROLOGY, 2003, 54 :S15-S19

[4] Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS [J].

DeJesus-Hernandez, Mariely ;

Mackenzie, Ian R. ;

Boeve, Bradley F. ;

Boxer, Adam L. ;

Baker, Matt ;

Rutherford, Nicola J. ;

Nicholson, Alexandra M. ;

Finch, NiCole A. ;

Flynn, Heather ;

Adamson, Jennifer ;

Kouri, Naomi ;

Wojtas, Aleksandra ;

Sengdy, Pheth ;

Hsiung, Ging-Yuek R. ;

Karydas, Anna ;

Seeley, William W. ;

Josephs, Keith A. ;

Coppola, Giovanni ;

Geschwind, Daniel H. ;

Wszolek, Zbigniew K. ;

Feldman, Howard ;

Knopman, David S. ;

Petersen, Ronald C. ;

Miller, Bruce L. ;

Dickson, Dennis W. ;

Boylan, Kevin B. ;

Graff-Radford, Neill R. ;

Rademakers, Rosa .

NEURON, 2011, 72 (02) :245-256

[5] Autosomal Dominant Frontotemporal Lobar Degeneration Due to the C9ORF72 Hexanucleotide Repeat Expansion: Late-Onset Psychotic Clinical Presentation [J].

Galimberti, Daniela ;

Fenoglio, Chiara ;

Serpente, Maria ;

Villa, Chiara ;

Bonsi, Rossana ;

Arighi, Andrea ;

Fumagalli, Giorgio G. ;

Del Bo, Roberto ;

Bruni, Amalia C. ;

Anfossi, Maria ;

Clodomiro, Alessandra ;

Cupidi, Chiara ;

Nacmias, Benedetta ;

Sorbi, Sandro ;

Piaceri, Irene ;

Bagnoli, Silvia ;

Bessi, Valentina ;

Marcone, Alessandra ;

Cerami, Chiara ;

Cappa, Stefano F. ;

Filippi, Massimo ;

Agosta, Federica ;

Magnani, Giuseppe ;

Comi, Giancarlo ;

Franceschi, Massimo ;

Rainero, Innocenzo ;

Giordana, Maria Teresa ;

Rubino, Elisa ;

Ferrero, Patrizia ;

Rogaeva, Ekaterina ;

Xi, Zhengrui ;

Confaloni, Annamaria ;

Piscopo, Paola ;

Bruno, Giuseppe ;

Talarico, Giuseppina ;

Cagnin, Annachiara ;

Clerici, Francesca ;

Dell'Osso, Bernardo ;

Comi, Giacomo P. ;

Altamura, A. Carlo ;

Mariani, Claudio ;

Scarpini, Elio .

BIOLOGICAL PSYCHIATRY, 2013, 74 (05) :384-391

[6] FUS and TDP43 genetic variability in FTD and CBS [J].

Huey, Edward D. ;

Ferrari, Raffaele ;

Moreno, Jorge H. ;

Jensen, Christopher ;

Morris, Christopher M. ;

Potocnik, Felix ;

Kalaria, Rajesh N. ;

Tierney, Michael ;

Wassermann, Eric M. ;

Hardy, John ;

Grafman, Jordan ;

Momeni, Parastoo .

NEUROBIOLOGY OF AGING, 2012, 33 (05) :1016.e9-1016.e17

[7] Clinicopathological Correlations in Corticobasal Degeneration [J].

Lee, Suzee E. ;

Rabinovici, Gil D. ;

Mayo, Mary Catherine ;

Wilson, Stephen M. ;

Seeley, William W. ;

DeArmond, Stephen J. ;

Huang, Eric J. ;

Trojanowski, John Q. ;

Growdon, Matthew E. ;

Jang, Jung Y. ;

Sidhu, Manu ;

See, Tricia M. ;

Karydas, Anna M. ;

Gorno-Tempini, Maria-Luisa ;

Boxer, Adam L. ;

Weiner, Michael W. ;

Geschwind, Michael D. ;

Rankin, Katherine P. ;

Miller, Bruce L. .

ANNALS OF NEUROLOGY, 2011, 70 (02) :327-340

[8] C9orf72 repeat expansions are a rare genetic cause of parkinsonism [J].

Lesage, Suzanne ;

Le Ber, Isabelle ;

Condroyer, Christel ;

Broussolle, Emmanuel ;

Gabelle, Audrey ;

Thobois, Stephane ;

Pasquier, Florence ;

Mondon, Karl ;

Dion, Patrick A. ;

Rochefort, Daniel ;

Rouleau, Guy A. ;

Duerr, Alexandra ;

Brice, Alexis .

BRAIN, 2013, 136 :385-391

[9] Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease [J].

Lindquist, S. G. ;

Duno, M. ;

Batbayli, M. ;

Puschmann, A. ;

Braendgaard, H. ;

Mardosiene, S. ;

Svenstrup, K. ;

Pinborg, L. H. ;

Vestergaard, K. ;

Hjermind, L. E. ;

Stokholm, J. ;

Andersen, B. B. ;

Johannsen, P. ;

Nielsen, J. E. .

CLINICAL GENETICS, 2013, 83 (03) :279-283

[10] The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS [J].

Mori, Kohji ;

Weng, Shih-Ming ;

Arzberger, Thomas ;

May, Stephanie ;

Rentzsch, Kristin ;

Kremmer, Elisabeth ;

Schmid, Bettina ;

Kretzschmar, Hans A. ;

Cruts, Marc ;

Van Broeckhoven, Christine ;

Haass, Christian ;

Edbauer, Dieter .

SCIENCE, 2013, 339 (6125) :1335-1338

← 1 2 →