Amyotrophic lateral sclerosis: A new missense mutation in the SOD1 gene

Neurobiology of Aging

Volumn 34, Issue 6, 2013, Pages 1709.e3-1709.e5

  Tortelli, Rosanna ^a   Conforti, Francesca Luisa ^b   Cortese, Rosa ^a   D'Errico, Eustachio ^a   Distaso, Eugenio ^a   Mazzei, Rosalucia ^b   Ungaro, Carmine ^b   Magariello, Angela ^b   Gambardella, Antonio ^b   Logroscino, Giancarlo ^a   Simone, Isabella Laura ^a  

^a UNIVERSITY OF BARI   (Italy)

^b INSTITUTE OF NEUROLOGICAL SCIENCES   (Italy)

Author keywords

ALS mutation; Genotype phenotype correlation; New SOD1 missense mutation

Indexed keywords

ARGININE; COPPER ZINC SUPEROXIDE DISMUTASE; CYSTEINE;

AGED; AMINO ACID SUBSTITUTION; AMYOTROPHIC LATERAL SCLEROSIS; ARM MUSCLE; ARM WEAKNESS; ARTICLE; CASE REPORT; CAUCASIAN; CONTROLLED STUDY; DISEASE ACTIVITY; DISEASE COURSE; DISEASE SEVERITY; DYSPHAGIA; DYSPNEA; EXON; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; HUMAN CELL; LEG MUSCLE; MALE; MISSENSE MUTATION; MUSCLE ATROPHY; MUTATIONAL ANALYSIS; NECK MUSCLE; PERCUTANEOUS ENDOSCOPIC GASTROSTOMY; PHENOTYPE; PRIORITY JOURNAL; QUADRIPLEGIA; SOD1 GENE; TRACHEOTOMY;

EID: 84875275736     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2012.10.027     Document Type: Article

References (14)

1. Brooks B.R. El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. 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. J. Neurol. Sci. 1994, 124(suppl):96-107.
2. Broom W.J., Russ C., Sapp P.C., McKenna-Yasek D., Hosler B.A., Andersen P.M., Brown R.H. Variants in candidate ALS modifier genes linked to Cu/Zn superoxide dismutase do not explain divergent survival phenotypes. Neurosci. Lett. 2006, 392:52-57.
3. Cedarbaum J.M., Stambler N., Malta E., Fuller C., Hilt D., Thurmond B., Nakanishi A. The ALSFRS-R: a revised ALS functional rating scale that incorporates assessments of respiratory function. BDNF ALS Study Group (Phase III). J. Neurol. Sci. 1999, 169:13-21.
4. Cudkowicz M.E., McKenna-Yasek D., Sapp P.E., Chin W., Geller B., Hayden D.L., Schoenfeld D.A., Hosler B.A., Horvitz H.R., Brown R.H. Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann. Neurol. 1997, 41:210-221.
5. Del Grande A., Conte A., Lattante S., Luigetti M., Marangi G., Zollino M., Madia F., Bisogni G., Sabatelli M. D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation. J. Neurol. Sci. 2011, 309:31-33.
6. Deng H.X., Hentati A., Tainer J.A., Iqbal Z., Cayabyab A., Hung W.Y., Getzoff E.D., Hu P., Herzfeldt B., Roos R.P., Warner C., Deng G., Soriano E., Smyth C., Parge H.E., Ahmed A., Roses A.D., Hallewell R.A., Pericak-Vance M.A., Siddique T. Amyotrophic lateral sclerosis and structural defects in Cu, Zn superoxide dismutase. Science 1993, 261:1047-1051.
7. A comparison of muscle strength testing techniques in amyotrophic lateral sclerosis. Neurology 2003, 61:1503-1506. Great Lakes ALS Study Group.
8. Kostrzewa M., Burck-Lehmann U., Muller U. Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene. Hum. Mol. Genet. 1994, 3:2261-2262.
9. Logroscino G., Traynor B.J., Hardiman O., Chio' A., Couratier P., Mitchell J.D., Swingler R.J., Beghi E., EURALS Descriptive epidemiology of amyotrophic lateral sclerosis: new evidence and unsolved issues. J. Neurol. Neurosurg. Psychiatry 2008, 79:6-11.
10. Millecamps S., Salachas F., Cazeneuve C., Gordon P., Bricka B., Camuzat A., Guillot-Noël L., Russaouen O., Bruneteau G., Pradat P.F., Le Forestier N., Vandenberghe N., Danel-Brunaud V., Guy N., Thauvin-Robinet C., Lacomblez L., Couratier P., Hannequin D., Seilhean D., Le Ber I., Corcia P., Camu W., Brice A., Rouleau G., LeGuern E., Meininger V. SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. J. Med. Genet. 2010, 47:554-560.
11. Rabe M., Felbecker A., Waibel S., Steinbach P., Winter P., Ludolph A.C. The epidemiology of CuZn-SOD mutations in Germany: a study of 217 families. J. Neurol. 2010, 257:1298-1302.
12. Radunovíc A., Leigh P.N. Cu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis: correlation between genotype and clinical features. J. Neurol. Neurosurg. Psychiatry 1996, 61:565-572.
13. Rowland L.P., Shneider N.A. Amyotrophic lateral sclerosis. N. Engl. J. Med. 2001, 344:1688-1700.
14. Smith B.N., Newhouse S., Shatunov A., Vance C., Topp S., Johnson L., Miller J., Lee Y., Troakes C., Scott K.M., Jones A., Gray I., Wright J., Hortobágyi T., Al-Sarraj S., Rogelj B., Powell J., Lupton M., Lovestone S., Sapp P.C., Weber M., Nestor P.J., Schelhaas H.J., Asbroek A.A., Silani V., Gellera C., Taroni F., Ticozzi N., Van den Berg L., Veldink J., Van Damme P., Robberecht W., Shaw P.J., Kirby J., Pall H., Morrison K.E., Morris A., de Belleroche J., Vianney de Jong J.M., Baas F., Andersen P.M., Landers J., Brown R.H., Weale M.E., Al-Chalabi A., Shaw C.E. The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. Eur. J. Hum. Genet 2012, 10.1038/ejhg.2012.98.