The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

European Journal of Human Genetics

Volumn 21, Issue 1, 2013, Pages 102-108

  Smith, Bradley N ^a   Newhouse, Stephen ^a   Shatunov, Aleksey ^a   Vance, Caroline ^a   Topp, Simon ^a   Johnson, Lauren ^a   Miller, Jack ^a   Lee, Younbok ^a   Troakes, Claire ^a   Scott, Kirsten M ^a   Jones, Ashley ^a   Gray, Ian ^a   Wright, Jamie ^a   Hortobágyi, Tibor ^a   Al Sarraj, Safa ^a   Rogelj, Boris ^a   Powell, John ^a   Lupton, Michelle ^a   Lovestone, Simon ^a   Sapp, Peter C ^b   Weber, Markus ^c   Nestor, Peter J ^d   Schelhaas, Helenius J ^e   Ten Asbroek, Anneloor A L M ^f   Silani, Vincenzo ^g   Gellera, Cinzia ^h   Taroni, Franco ^h   Ticozzi, Nicola ^g   Van Den Berg, Leonard ⁱ   Veldink, Jan ⁱ   Van Damme, Phillip ^j   Robberecht, Wim ^j   Shaw, Pamela J ^k   Kirby, Janine ^k   Pall, Hardev ^l   Morrison, Karen E ^l   Morris, Alex ^m   De Belleroche, Jacqueline ^m   Vianney De Jong, J M B ^f   Baas, Frank ^f   Andersen, Peter M ⁿ   Landers, John ^b   Brown Jr , Robert H ^b   Weale, Michael E ^a   Al Chalabi, Ammar ^a   Shaw, Christopher E ^a   more..

^a KING'S COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^c UNIVERSITY HOSPITAL BASEL   (Switzerland)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f ACADEMIC MEDICAL CENTER   (Netherlands)

^g UNIVERSITY OF MILAN   (Italy)

^h DEPARTMENT OF NEUROSURGERY   (Italy)

ⁱ UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^j UNIVERSITY OF LEUVEN   (Belgium)

^k UNIVERSITY OF SHEFFIELD   (United Kingdom)

^l UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^m Neurogenetics Group   (United Kingdom)

ⁿ UMEÅ UNIVERSITY   (Sweden)

more..

Author keywords

ALS; C9ORF72; common founder

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE; RNA BINDING PROTEIN; TAR DNA BINDING PROTEIN;

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; BELGIUM; CHROMOSOME 9; COHORT ANALYSIS; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; EUROPE; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC ANALYSIS; GENETIC STABILITY; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HEXANUCLEOTIDE REPEAT EXPANSION MUTATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTICENTER STUDY; NETHERLANDS; NUCLEOTIDE REPEAT; ONSET AGE; OPEN READING FRAME; PREVALENCE; PRIORITY JOURNAL; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; SURVIVAL RATE; SWEDEN; UNITED KINGDOM;

AGE OF ONSET; AMYOTROPHIC LATERAL SCLEROSIS; COHORT STUDIES; EUROPE; FOUNDER EFFECT; FRONTOTEMPORAL DEMENTIA; GENE FREQUENCY; GENOMIC INSTABILITY; HAPLOTYPES; HUMANS; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; REPETITIVE SEQUENCES, NUCLEIC ACID;

EID: 84871219249     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.98     Document Type: Article

References (35)

1. Shaw CE, al-Chalabi A, Leigh N: Progress in the pathogenesis of amyotrophic lateral sclerosis. Curr Neurol Neurosci Rep 2001; 1: 69-76.
2. Lomen-Hoerth C, Anderson T, Miller B: The overlap of amyotrophic lateral sclerosis and frontotemporal dementia. Neurology 2002; 59: 1077-1079.
3. Vance C, Al-Chalabi A, Ruddy D et al: Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. Brain 2006; 129: 868-876.
4. Morita M, Al-Chalabi A, Andersen PM et al: A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology 2006; 66: 839-844.
5. Luty AA, Kwok JB, Thompson EM et al: Pedigree with frontotemporal lobar degeneration-motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9. BMC Neurol 2008; 8: 32.
6. Boxer AL, Mackenzie IR, Boeve BF et al: Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. J Neurol Neurosurg Psychiatry 2010; 82: 196-203.
7. Shatunov A, Mok K, Newhouse S et al: Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol 2010; 9: 986-994.
8. Laaksovirta H, Peuralinna T, Schymick JC et al: Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. Lancet Neurol 2010; 9: 978-985.
9. van Es MA, Veldink JH, Saris CG et al: Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet 2009; 41: 1083-1087.
10. Van Deerlin VM, Sleiman PM, Martinez-Lage M et al: Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet 2010; 42: 234-239.
11. Rollinson S, Mead S, Snowden J et al: Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis. Neurobiol Aging 2011; 32:758 e751-e757.
12. Dejesus-Hernandez M, Mackenzie IR, Boeve BF et al: Expanded GGGGCC hexanucleo-tide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011; 72: 245-256.
13. 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.
14. Brooks BR, Miller RG, Swash M, Munsat TL: El escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 2000; 1: 293-299.
15. McKenna A, Hanna M, Banks E et al: The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010; 20: 1297-1303.
16. Danecek P, Auton A, Abecasis G et al: The variant call format and VCFtools. Bioinformatics 2011; 27: 2156-2158.
17. Purcell S, Neale B, Todd-Brown K et al: PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81: 559-575.
18. Reeve JP, Rannala B: DMLE\+: Bayesian linkage disequilibrium gene mapping. Bioinformatics 2002; 18: 894-895.
19. Rannala B, Bertorelle G: Using linked markers to infer the age of a mutation. Hum Mutat 2001; 18: 87-100.
20. Weale ME, Weiss DA, Jager RF, Bradman N, Thomas MG: Y chromosome evidence for Anglo-Saxon mass migration. Mol Biol Evol 2002; 19: 1008-1021.
21. Meddison A: Contours of the World Economy, 1-2030 AD: Essays in Macro-Economic History. New York: Oxford University Press, 2007.
22. Hastbacka J, de la Chapelle A, Kaitila I, Sistonen P, Weaver A, Lander E: Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat Genet 1992; 2: 204-211.
23. Sham PC, Curtis D: Monte Carlo tests for associations between disease and alleles at highly polymorphic loci. Ann Hum Genet 1995; 59: 97-105.
24. Risch N, de Leon D, Ozelius L et al: Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet 1995; 9: 152-159.
25. Mok K, Traynor BJ, Schymick J et al: The chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging 2011; 33: e203-e208.
26. Spiro C, McMurray CT: Nuclease-deficient FEN-1 blocks Rad51/BRCA1-mediated repair and causes trinucleotide repeat instability. Mol Cell Biol 2003; 23: 6063-6074.
27. Henricksen LA, Tom S, Liu Y, Bambara RA: Inhibition of flap endonuclease 1 by flap secondary structure and relevance to repeat sequence expansion. J Biol Chem 2000; 275: 16420-16427.
28. Daee DL, Mertz TM, Shcherbakova PV: A cancer-associated DNA polymerase delta variant modeled in yeast causes a catastrophic increase in genomic instability. Proc Natl Acad Sci USA, 107: 157-162.
29. Foiry L, Dong L, Savouret C et al: Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice. Hum Genet 2006; 119: 520-526.
30. Neumann M, Sampathu DM, Kwong LK et al: Ubiquitinated TDP-43 in fronto-temporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006; 314: 130-133.
31. Pearson JP, Williams NM, Majounie E et al: Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. J Neurol 2011; 258: 647-655.
32. Al-Sarraj S, King A, Troakes C et al: p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS. Acta Neuropathol 2011; 122: 691-702.
33. Troakes C, Maekawa S, Wijesekera L et al: An MND/ALS phenotype associated with C9orf72 repeat expansion: Abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline. Neuropathology, e-pub ahead of print 19 December 2011.
34. Miller JW, Urbinati CR, Teng-Umnuay P et al: Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J 2000; 19: 4439-4448.
35. Kanadia RN, Shin J, Yuan Y et al: Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy. Proc Natl Acad Sci USA 2006; 103: 11748-11753.