A new familial amyotrophic lateral sclerosis locus on chromosome 16q12.1-16q12.2

American Journal of Human Genetics

Volumn 73, Issue 2, 2003, Pages 383-389

  Abalkhail, Halah ^a   Mitchell, John ^a   Habgood, James ^a   Orrell, Richard ^b   De Belleroche, Jacqueline ^a  

^a CHARING CROSS HOSPITAL   (United Kingdom)

^b ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CASE REPORT; CHROMOSOMAL LOCALIZATION; CHROMOSOME 16Q; FAMILIAL DISEASE; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC DISTANCE; GENETIC SCREENING; HUMAN; MALE; PENETRANCE; PRIORITY JOURNAL; UNITED KINGDOM; UNITED STATES;

EID: 0043166959     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/377156     Document Type: Article

References (15)

1. Beckman JS, Estevez AG, Crow JP, Barbeito L (2001) Superoxide dismustase and the death of motor neurones in ALS. Trends Neurosci 24:S15-S20
2. Blair IP, Bennett CL, Abel A, Rabin BA, Griffin JW, Fischbeck KH, Cornblath DR, Chance PF (2000) A gene for autosomal dominant juvenile amyotrophic lateral sclerosis (ALS4) localizes to a 500-kb interval on chromosome 9q34. Neurogenetics 3:1-6
3. Brooks BR (1994) El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on motor neuron disease/amyotrophic lateral sclerosis of the World federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial "Clinical limits on amyotrophic lateral sclerosis" workshop contributors. J Neurol Sci 124:S96-S107
4. Chance PF, Rabin BA, Ryan SG, Ding Y, Scavina M, Crain B, Griffin JW, Cornblath DR (1998) Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34. Am J Hum Genet 62:633-640
5. Cleveland DW, Rothstein JD (2001) From Charcot to Lou Gehrig: deciphering selective motor neuron death in ALS. Nat Rev Neurosci 2:806-819
6. de Belleroche J, Orrell RW, Virgo L (1996) Amyotrophic lateral sclerosis: recent advances in understanding disease mechanisms. J Neuropathol Exp Neurol 55:747-75.7
7. Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Deveon RS, Mivamoto N, Showguchi-Mivata J, Okada Y, Singaraja R, Figlewicz DA, Kwiatkowski T, Iiosler BA, Sagie T, Skaug J, Nasir J, Brown RII Jr, Scherer SW, Rouleau GA, Hayden MR, Ikeda JE (2001) A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet 29:166-173
8. Hand CK, Khoris J, Salachas F, Gros-Louis F, Lopes AAS, Mayeux-Portas V, Brown RH Jr, Meininger V, Camu W, Rouleau GA (2002) A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q. Am J Hum Genet 70:251-256
9. Hentati A, Bejaoui K, Pericak-Vance MA, Hentati F, Speer MC, Hung W-Y, Figlewicz DA, Haines J, Rimmler J, Ben Hamida C, Ben Hamida M, Brown RH Jr, Siddique T (1994) Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. Nat Genet 7:425-428
10. Hentati A, Ouahchi K, Pericak-Vance MA, Nijhawan D, Ahmad A, Yang Y, Rimmler J, Hung W, Schlotter B, Ahmed A, Ben Hamida M, Hentati F, Siddique T (1998) Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers. Neurogenetics 2:55-60
11. Hosler BA, Siddique, T, Sapp PC, Sailor W, Huang MC, Hossain A, Daube JR, Nance M, Fan C, Kaplan J, Hung W-Y, McKenna-Yasek D, Haines JL, Pericak-Vance MA, Horvitz HR, Brown RH Jr (2000) Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. JAMA 284:1664-1669
12. Orrell RW, Habgood J, Gardiner I, King AW, Bowe FA, Hallewell RA, Marklund SL, Greenwood J, Lane RJM, de Belleroche J (1997) Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for copper-zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis. Neurology 48:746-751
13. Ploughman LM, Boehnke M (1989) Estimating the power of a proposed linkage study for a complex genetic trait. Am J Hum Genet 44:543-551
14. Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, et al (1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362:59-62
15. Yang Y, Hentati A, Deng H-X, Dabbagh O, Sasaki T, Hirano M, Hung W-Y, Ouahchi K, Yan J, Azim AC, Cole N, Gascon G, Yagmour A, Ben-Hamida M, Pericak-Vance M, Hentati F, Siddique T (2001) The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet 29:160-165