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Literature DB >> 27666590

Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.

Celia Kun-Rodrigues¹, Owen A Ross², Tatiana Orme¹, Claire Shepherd³, Laura Parkkinen⁴, Lee Darwent¹, Dena Hernandez⁵, Olaf Ansorge⁴, Lorraine N Clark⁶, Lawrence S Honig⁶, Karen Marder⁶, Afina Lemstra⁷, Philippe Scheltens⁷, Wiesje van der Flier⁷, Eva Louwersheimer⁷, Henne Holstege⁷, Ekaterina Rogaeva⁸, Peter St George-Hyslop⁸, Elisabet Londos⁹, Henrik Zetterberg¹⁰, Imelda Barber¹¹, Anne Braae¹¹, Kristelle Brown¹¹, Kevin Morgan¹¹, Walter Maetzler¹², Daniela Berg¹², Claire Troakes¹³, Safa Al-Sarraj¹³, Tammaryn Lashley¹⁴, Janice Holton¹⁴, Yaroslau Compta¹⁵, Vivianna Van Deerlin¹⁶, John Q Trojanowski¹⁶, Geidy E Serrano¹⁷, Thomas G Beach¹⁷, Jordi Clarimon¹⁸, Alberto Lleó¹⁸, Estrella Morenas-Rodríguez¹⁸, Suzanne Lesage¹⁹, Douglas Galasko²⁰, Eliezer Masliah²⁰, Isabel Santana²¹, Monica Diez²², Pau Pastor²², Pentti J Tienari²³, Liisa Myllykangas²⁴, Minna Oinas²⁵, Tamas Revesz¹⁴, Andrew Lees¹⁴, Brad F Boeve²⁶, Ronald C Petersen²⁶, Tanis J Ferman²⁷, Valentina Escott-Price²⁸, Neill Graff-Radford²⁹, Nigel J Cairns³⁰, John C Morris³⁰, David J Stone³¹, Stuart Pickering-Brown³², David Mann³², Dennis W Dickson², Glenda M Halliday³, Andrew Singleton⁵, Rita Guerreiro³³, Jose Bras³⁴.

Abstract

C9orf72 repeat expansions are a common cause of amyotrophic lateral sclerosis and frontotemporal dementia. To date, no large-scale study of dementia with Lewy bodies (DLB) has been undertaken to assess the role of C9orf72 repeat expansions in the disease. Here, we investigated the prevalence of C9orf72 repeat expansions in a large cohort of DLB cases and identified no pathogenic repeat expansions in neuropathologically or clinically defined cases, showing that C9orf72 repeat expansions are not causally associated with DLB.

Entities: Chemical

Keywords: C9orf72; Dementia with Lewy bodies (DLB); Genetic screen

Mesh：

Substances：

Year: 2016 PMID： 27666590 PMCID： PMC5154872 DOI： 10.1016/j.neurobiolaging.2016.08.023

Source DB: PubMed Journal: Neurobiol Aging ISSN： 0197-4580 Impact factor: 4.673

28 in total

Review 1. Is dementia with Lewy bodies the second most common cause of dementia?

Authors: Judith L Heidebrink
Journal: J Geriatr Psychiatry Neurol Date: 2002 Impact factor: 2.680

2. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.

Authors: Mariely DeJesus-Hernandez; Ian R Mackenzie; Bradley F Boeve; Adam L Boxer; Matt Baker; Nicola J Rutherford; Alexandra M Nicholson; NiCole A Finch; Heather Flynn; Jennifer Adamson; Naomi Kouri; Aleksandra Wojtas; Pheth Sengdy; Ging-Yuek R Hsiung; Anna Karydas; William W Seeley; Keith A Josephs; Giovanni Coppola; Daniel H Geschwind; Zbigniew K Wszolek; Howard Feldman; David S Knopman; Ronald C Petersen; Bruce L Miller; Dennis W Dickson; Kevin B Boylan; Neill R Graff-Radford; Rosa Rademakers
Journal: Neuron Date: 2011-09-21 Impact factor: 17.173

3. C9orf72 repeat expansions are a rare genetic cause of parkinsonism.

Authors: Suzanne Lesage; Isabelle Le Ber; Christel Condroyer; Emmanuel Broussolle; Audrey Gabelle; Stéphane Thobois; Florence Pasquier; Karl Mondon; Patrick A Dion; Daniel Rochefort; Guy A Rouleau; Alexandra Dürr; Alexis Brice
Journal: Brain Date: 2013-02 Impact factor: 13.501

4. C9orf72 Hexanucleotide Repeat Analysis in Cases with Pathologically Confirmed Dementia with Lewy Bodies.

Authors: Joshua T Geiger; Karissa C Arthur; Ted M Dawson; Liana S Rosenthal; Alexander Pantelyat; Marilyn Albert; Argye E Hillis; Barbara Crain; Olga Pletnikova; Juan C Troncoso; Sonja W Scholz
Journal: Neurodegener Dis Date: 2016-05-31 Impact factor: 2.977

5. The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.

Authors: Zhengrui Xi; Ming Zhang; Amalia C Bruni; Raffaele G Maletta; Rosanna Colao; Pietro Fratta; James M Polke; Mary G Sweeney; Ese Mudanohwo; Benedetta Nacmias; Sandro Sorbi; Maria Carmela Tartaglia; Innocenzo Rainero; Elisa Rubino; Lorenzo Pinessi; Daniela Galimberti; Ezequiel I Surace; Philip McGoldrick; Paul McKeever; Danielle Moreno; Christine Sato; Yan Liang; Julia Keith; Lorne Zinman; Janice Robertson; Ekaterina Rogaeva
Journal: Acta Neuropathol Date: 2015-02-26 Impact factor: 17.088

Review 6. Dementia with Lewy bodies.

Authors: David Weisman; Ian McKeith
Journal: Semin Neurol Date: 2007-02 Impact factor: 3.420

7. Repeat expansion in C9ORF72 in Alzheimer's disease.

Authors: Elisa Majounie; Yevgeniya Abramzon; Alan E Renton; Rodney Perry; Susan S Bassett; Olga Pletnikova; Juan C Troncoso; John Hardy; Andrew B Singleton; Bryan J Traynor
Journal: N Engl J Med Date: 2012-01-04 Impact factor: 91.245

8. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72.

Authors: Bradley F Boeve; Kevin B Boylan; Neill R Graff-Radford; Mariely DeJesus-Hernandez; David S Knopman; Otto Pedraza; Prashanthi Vemuri; David Jones; Val Lowe; Melissa E Murray; Dennis W Dickson; Keith A Josephs; Beth K Rush; Mary M Machulda; Julie A Fields; Tanis J Ferman; Matthew Baker; Nicola J Rutherford; Jennifer Adamson; Zbigniew K Wszolek; Anahita Adeli; Rodolfo Savica; Brendon Boot; Karen M Kuntz; Ralitza Gavrilova; Andrew Reeves; Jennifer Whitwell; Kejal Kantarci; Clifford R Jack; Joseph E Parisi; John A Lucas; Ronald C Petersen; Rosa Rademakers
Journal: Brain Date: 2012-03 Impact factor: 13.501

9. C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies.

Authors: Davina J Hensman Moss; Mark Poulter; Jon Beck; Jason Hehir; James M Polke; Tracy Campbell; Garry Adamson; Ese Mudanohwo; Peter McColgan; Andrea Haworth; Edward J Wild; Mary G Sweeney; Henry Houlden; Simon Mead; Sarah J Tabrizi
Journal: Neurology Date: 2013-12-20 Impact factor: 9.910

10. Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.

Authors: Jose Bras; Rita Guerreiro; Lee Darwent; Laura Parkkinen; Olaf Ansorge; Valentina Escott-Price; Dena G Hernandez; Michael A Nalls; Lorraine N Clark; Lawrence S Honig; Karen Marder; Wiesje M Van Der Flier; Afina Lemstra; Philip Scheltens; Ekaterina Rogaeva; Peter St George-Hyslop; Elisabet Londos; Henrik Zetterberg; Sara Ortega-Cubero; Pau Pastor; Tanis J Ferman; Neill R Graff-Radford; Owen A Ross; Imelda Barber; Anne Braae; Kristelle Brown; Kevin Morgan; Walter Maetzler; Daniela Berg; Claire Troakes; Safa Al-Sarraj; Tammaryn Lashley; Yaroslau Compta; Tamas Revesz; Andrew Lees; Nigel Cairns; Glenda M Halliday; David Mann; Stuart Pickering-Brown; Dennis W Dickson; Andrew Singleton; John Hardy
Journal: Hum Mol Genet Date: 2014-06-27 Impact factor: 6.150

6 in total

Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.

Review 1. Is dementia with Lewy bodies the second most common cause of dementia?

2. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.

3. C9orf72 repeat expansions are a rare genetic cause of parkinsonism.

4. C9orf72 Hexanucleotide Repeat Analysis in Cases with Pathologically Confirmed Dementia with Lewy Bodies.

5. The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.

Review 6. Dementia with Lewy bodies.

7. Repeat expansion in C9ORF72 in Alzheimer's disease.

8. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72.

9. C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies.

10. Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.

Review 1. Dementia with Lewy bodies and Parkinson's disease-dementia: current concepts and controversies.

Review 2. C9orf72 and its Relevance in Parkinsonism and Movement Disorders: A Comprehensive Review of the Literature.

Review 3. Intermediate C9orf72 alleles in neurological disorders: does size really matter?

4. Are dementia with Lewy bodies and Parkinson's disease dementia the same disease?

Review 5. The Genetics of Dementia with Lewy Bodies: Current Understanding and Future Directions.

Review 6. Mechanisms of Neurodegeneration in Various Forms of Parkinsonism-Similarities and Differences.