Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease

Neurology

Volumn 83, Issue 21, 2014, Pages 1906-1913

  Theuns, Jessie ^a,b   Verstraeten, Aline ^a,b   Sleegers, Kristel ^a,b   Wauters, Eline ^a,b   Gijselinck, Ilse ^a,b   Smolders, Stefanie ^a,b   Crosiers, David ^a,b,c   Corsmit, Ellen ^a,b   Elinck, Ellen ^a,b   Sharma, Manu ^f,g   Krüger, Rejko ^f   Lesage, Suzanne ^h,i   Brice, Alexis ^h,i,j   Chung, Sun Ju ^k   Kim, Mi Jung ^k   Kim, Young Jin ^k   Ross, Owen A ^l   Wszolek, Zbigniew K ^m   Rogaeva, Ekaterina ⁿ   Xi, Zhengrui ⁿ   Lang, Anthony E ^o   Klein, Christine ^p   Weissbach, Anne ^p   Mellick, George D ^q   Silburn, Peter A ^r   Hadjigeorgiou, Georgios M ^s   Dardiotis, Efthimios ^s   Hattori, Nobutaka ^t   Ogaki, Kotaro ^t   Tan, Eng King ^u,v   Zhao, Yi ^u,v   Aasly, Jan ^w,x   Valente, Enza Maria ^y   Petrucci, Simona ^y   Annesi, Grazia ^z   Quattrone, Aldo ^z,aa   Ferrarese, Carlo ^ab   Brighina, Laura ^ab   Deutschländer, Angela ^ac   Puschmann, Andreas ^ad,ae   Nilsson, Christer ^ad   Garraux, Gaëtan ^af   LeDoux, Mark S ^ag   Pfeiffer, Ronald F ^ag   Boczarska Jedynak, Magdalena ^ah   Opala, Grzegorz ^ah   Maraganore, Demetrius M ^ai   Engelborghs, Sebastiaan ^b,d   De Deyn, Peter Paul ^b,d,e   Cras, Patrick ^b,c   Cruts, Marc ^a,b   Van Broeckhoven, Christine ^a,b   more..

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^d Hospital Network Antwerp   (Belgium)

^e UNIVERSITY OF GRONINGEN   (Netherlands)

^f GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^g UNIVERSITY OF TÜBINGEN   (Germany)

^h INSERM   (France)

ⁱ CNRS   (France)

^j PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^k University of Ulsan College of Medicine   (South Korea)

^l Department of Neuroscience ^*  (United States)

^m MAYO CLINIC   (United States)

ⁿ UNIVERSITY OF TORONTO   (Canada)

^o TORONTO WESTERN HOSPITAL   (Canada)

^p UNIVERSITY OF LÜBECK   (Germany)

^q GRIFFITH UNIVERSITY   (Australia)

^r UNIVERSITY OF QUEENSLAND   (Australia)

^s UNIVERSITY OF THESSALY   (Greece)

^t JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^u SINGAPORE GENERAL HOSPITAL   (Singapore)

^v DUKE NUS MEDICAL SCHOOL   (Singapore)

^w TRONDHEIM UNIVERSITY HOSPITAL   (Norway)

^x NORWEGIAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Norway)

^y CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^z CNR   (Italy)

^aa UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^ab SAN GERARDO HOSPITAL   (Italy)

^ac MAX PLANCK INSTITUTE OF PSYCHIATRY   (Germany)

^ad LUND UNIVERSITY   (Sweden)

^ae LUND UNIVERSITY HOSPITAL   (Sweden)

^af UNIVERSITY OF LIÈGE   (Belgium)

^ag UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^ah MEDICAL UNIVERSITY OF SILESIA   (Poland)

^ai NORTHSHORE UNIVERSITY HEALTHSYSTEM   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DOPAMINE RECEPTOR STIMULATING AGENT; C9ORF72 PROTEIN, HUMAN; PROTEIN; REPETITIVE DNA;

ADULT; ALLELE; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; ATTRIBUTABLE RISK; C9ORF72 GENE; CONTROLLED STUDY; DEMENTIA; DNA BASE COMPOSITION; FAMILY HISTORY; GENE; GENETIC ASSOCIATION; GENETIC RISK; HUMAN; MAJOR CLINICAL STUDY; PARKINSON DISEASE; PARKINSONISM; PRIORITY JOURNAL; CLINICAL TRIAL; COHORT ANALYSIS; FEMALE; GENETICS; INTERNATIONAL COOPERATION; MALE; MIDDLE AGED; MULTICENTER STUDY;

COHORT STUDIES; DNA REPEAT EXPANSION; FEMALE; HUMANS; INTERNATIONALITY; MALE; MIDDLE AGED; PARKINSON DISEASE; PROTEINS;

EID: 84961289268     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000001012     Document Type: Article

References (30)

1. Gijselinck I, Van Langenhove T, van der Zee J, et al. A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurol 2012;11:54-65.
2. DeJesus-Hernandez M, Mackenzie IR, Boeve BF, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011;72:245-256.
3. Renton AE, Majounie E, Waite A, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011;72:257-268.
4. Cruts M, Gijselinck I, Van Langenhove T, van der Zee J, Van Broeckhoven C. Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum. Trends Neurosci 2013;36:450-459.
5. Takada LT, Pimentel ML, DeJesus-Hernandez M, et al. Frontotemporal dementia in a Brazilian kindred with the C9orf72 mutation. Arch Neurol 2012;69:1149-1153.
6. Savica R, Adeli A, Vemuri P, et al. Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72. Arch Neurol 2012;69: 1164-1169.
7. Luigetti M, Quaranta D, Conte A, et al. Frontotemporal dementia, parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion. Amyotroph Lateral Scler Frontotemporal Degener 2013;14:66-69.
8. Hsiung GY, DeJesus-Hernandez M, Feldman HH, et al. Clinical and pathological features of familial frontotempo-ral dementia caused by C9ORF72 mutation on chromosome 9p. Brain 2012;135:709-722.
9. Van Langenhove T, van der Zee J, Gijselinck I, et al. Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort. JAMA Neurol 2013;70:1-9.
10. Harms MB, Neumann D, Benitez BA, et al. Parkinson disease is not associated with C9ORF72 repeat expansions. Neurobiol Aging 2013;34:1519.e1-1519.e2.
11. DeJesus-Hernandez M, Rayaprolu S, Soto-Ortolaza AI, et al. Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome. Parkinsonism Relat Disord 2013;19:198-201.
12. Xi Z, Zinman L, Grinberg Y, et al. Investigation of C9orf72 in 4 neurodegenerative disorders. Arch Neurol 2012;69:1583-1590.
13. Majounie E, Abramzon Y, Renton AE, Keller MF, Traynor BJ, Singleton AB. Large C9orf72 repeat expansions are not a common cause of Parkinson's disease. Neurobiol Aging 2012;33:2527.e1-2527.e2.
14. Daoud H, Noreau A, Rochefort D, et al. Investigation of C9orf72 repeat expansions in Parkinson's disease. Neuro-biol Aging 2013;34:1710-1719.
15. Nuytemans K, Bademci G, Kohli MM, et al. C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease. Ann Hum Genet 2013;77:351-363.
16. Jiao B, Guo JF, Wang YQ, et al. C9orf72 mutation is rare in Alzheimer's disease, Parkinson's disease, and essential tremor in China. Front Cell Neurosci 2013;7:164.
17. Lesage S, Le Ber I, Condroyer C, et al. C9orf72 repeat expansions are a rare genetic cause of parkinsonism. Brain 2013;136:385-391.
18. Yeh TH, Lai SC, Weng YH, et al. Screening for C9orf72 repeat expansions in parkinsonian syndromes. Neurobiol Aging 2013;34:1311-1314.
19. Akimoto C, Forsgren L, Linder J, et al. No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkin-sonism patients in Sweden. Amyotroph Lateral Scler Frontotemporal Degener 2013;14:26-29.
20. van der Zee J, Gijselinck I, Dillen L, et al. A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats. Hum Mutat 2013;34:363-373.
21. DerSimonian R, Laird N. Meta-analysis in clinical trials. Control Clin Trials 1986;7:177-188.
22. Beck J, Poulter M, Hensman D, et al. Large C9orf72 hexanucleotide repeat expansions are seen in multiple neu-rodegenerative syndromes and are more frequent than expected in the UK population. Am J Hum Genet 2013;92:345-353.
23. Nuytemans K, Inchausti V, Beecham GW, et al. Absence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson's disease. Mov Disord 2014;29:827-830.
24. Cooper-Knock J, Frolov A, Highley JR, et al. C9ORF72 expansions, parkinsonism, and Parkinson disease: a clini-copathologic study. Neurology 2013;81:808-811.
25. Lill CM, Roehr JT, McQueen MB, et al. Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: the PDGene database. PLoS Genet 2012;8:e1002548.
26. Gelb DJ, Oliver E, Gilman S. Diagnostic criteria for Parkinson disease. Arch Neurol 1999;56:33-39.
27. Hoehn MM, Yahr MD. Parkinsonism: onset, progression and mortality. Neurology 1967;17:427-442.
28. Hughes AJ, Daniel SE, Lees AJ. Improved accuracy of clinical diagnosis of Lewy body Parkinson's disease. Neurology 2001;57:1497-1499.
29. Bower JH, Maraganore DM, McDonnell SK, Rocca WA. Incidence and distribution of parkinsonism in Olmsted County, Minnesota, 1976-1990. Neurology 1999;52: 1214-1220.
30. Ward CD, Gibb WR. Research diagnostic criteria for Parkinson's disease. Adv Neurol 1990;53:245-249.