Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis

Archives of Neurology

Volumn 68, Issue 5, 2011, Pages 587-593

  Daoud, Hussein ^a   Valdmanis, Paul N ^a   Gros Louis, Francois ^d   Belzil, Véronique ^a   Spiegelman, Dan ^a   Henrion, Edouard ^a   Diallo, Ousmane ^a   Desjarlais, Anne ^a   Gauthier, Julie ^a   Camu, William ^e   Dion, Patrick A ^a,b   Rouleau, Guy A ^a,b,c  

^a UNIVERSITY OF MONTREAL   (Canada)

^b UNIVERSITÉ DE MONTRÉAL   (Canada)

^c UNIVERSITY OF MONTREAL   (Canada)

^d LAVAL UNIVERSITY   (Canada)

^e Institute of Biology   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMINO ACID SUBSTITUTION; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; BCL11B GENE; BCL6 GENE; C50RF23 GENE; CAUSAL ATTRIBUTION; CD55 GENE; CDH13 GENE; CDH22 GENE; CNTN6 GENE; CONTROLLED STUDY; CRIM1 GENE; CRYM GENE; DIAPH3 GENE; DOC2B GENE; FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS; FAMILIAL DISEASE; FEMALE; FEZF2 GENE; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE SEGREGATION; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETIC VARIABILITY; GRB14 GENE; HUMAN; IGFBP4 GENE; ITM2A GENE; LBD2 GENE; LUM GENE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NEFH GENE; NETO1 GENE; NTNG1 GENE; NUCLEOTIDE SEQUENCE; OMA1 GENE; OPN3 GENE; PCP4 GENE; PRIORITY JOURNAL; RAMP3 GENE; RESEQUENCING; S100A10 GENE; SEQUENCE ANALYSIS; SET9 GENE; SOX5 GENE; SPORADICAMYOTROPHIC LATERAL SCLEROSIS; STK39 GENE; TMEM163 GENE; UNINDEXED SEQUENCE;

AMYOTROPHIC LATERAL SCLEROSIS; CHONDROITIN SULFATE PROTEOGLYCANS; CRYSTALLINS; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KERATAN SULFATE; MALE; MIDDLE AGED; MOTOR NEURONS; MUTATION, MISSENSE; PYRAMIDAL TRACTS;

EID: 79955787123     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2010.351     Document Type: Article

References (24)

1. Tandan R, Bradley WG. Amyotrophic lateral sclerosis: part 1, clinical features, pathology, and ethical issues in management. Ann Neurol. 1985;18(3):271-280. (Pubitemid 15023099)
2. Andersen PM. Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene. Curr Neurol Neurosci Rep. 2006;6(1):37-46. (Pubitemid 43154251)
3. Rothstein JD. Current hypotheses for the underlying biology of amyotrophic lateral sclerosis. Ann Neurol. 2009;65(suppl 1):S3-S9.
4. Kabashi E, Valdmanis PN, Dion P, et al. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet. 2008;40(5): 572-574. (Pubitemid 351601218)
5. Sreedharan J, Blair IP, Tripathi VB, et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science. 2008;319(5870):1668-1672. (Pubitemid 351432505)
6. Vance C, Rogelj B, Hortobágyi T, et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science. 2009;323(5918):1208-1211.
7. Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science. 2009;323(5918):1205-1208.
8. Daoud H, Valdmanis PN, Kabashi E, et al. Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis. J Med Genet. 2009;46(2):112-114.
9. Belzil VV, Valdmanis PN, Dion PA, et al; S2D Team. Mutations in FUS cause FALS and SALS in French and French Canadian populations. Neurology. 2009;73(15):1176-1179.
10. Dion PA, Daoud H, Rouleau GA. Genetics of motor neuron disorders: new insights into pathogenic mechanisms. Nat Rev Genet. 2009;10(11):769-782.
11. Maruyama H, Morino H, Ito H, et al. Mutations of optineurin in amyotrophic lateral sclerosis. Nature. 2010;465(7295):223-226.
12. Arlotta P, Molyneaux BJ, Chen J, Inoue J, Kominami R, Macklis JD. Neuronal subtype-specific genes that control corticospinal motor neuron development in vivo. Neuron. 2005;45(2):207-221. (Pubitemid 40136579)
13. Figlewicz DA, Krizus A, Martinoli MG, et al. Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. Hum Mol Genet. 1994;3(10):1757-1761. (Pubitemid 24310467)
14. Al-Chalabi A, Andersen PM, Nilsson P, et al. Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis. Hum Mol Genet. 1999;8(2):157-164. (Pubitemid 29054257)
15. Brooks BR; Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial "Clinical Limits of Amyotrophic Lateral Sclerosis" Workshop Contributors. El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. J Neurol Sci. 1994;124(suppl):96-107.
16. Botstein D, Risch N. Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nat Genet. 2003;33(suppl):228-237. (Pubitemid 36278833)
17. Ng SB, Turner EH, Robertson PD, et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature. 2009;461(7261):272-276.
18. Chakravarti S, Magnuson T. Localization of mouse lumican (keratan sulfate proteoglycan) to distal chromosome 10. Mamm Genome. 1995;6(5):367-368.
19. Takeuchi T, Ohtsuki Y. Recent progress in T-cadherin (CDH13, H-cadherin) research. Histol Histopathol. 2001;16(4):1287-1293. (Pubitemid 32994471)
20. Julien JP, Côté F, Collard JF. Mice overexpressing the human neurofilament heavy gene as a model of ALS. Neurobiol Aging. 1995;16(3):487-492.
21. Abe S, Katagiri T, Saito-Hisaminato A, et al. Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues. Am J Hum Genet. 2003;72(1):73-82. (Pubitemid 36056843)
22. Fukada Y, Yasui K, Kitayama M, et al. Gene expression analysis of the murine model of amyotrophic lateral sclerosis: studies of the Leu126delTT mutation in SOD1. Brain Res. 2007;1160:1-10. (Pubitemid 47058044)
23. Ng SB, Buckingham KJ, Lee C, et al. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet. 2010;42(1):30-35.
24. Lupski JR, Reid JG, Gonzaga-Jauregui C, et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010;362(13):1181-1191.