Whole-Genome Analysis of Sporadic Amyotrophic Lateral Sclerosis

A genomewide analysis of sporadic ALS suggests that a variant of FLJ10986, a gene of unknown function expressed in the spinal cord and other tissues, may confer susceptibility to the disease. This study also provides provisional identification of other candidate genes, variants of which may underlie...

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Veröffentlicht in:The New England journal of medicine 2007-08, Vol.357 (8), p.775-788
Hauptverfasser: Dunckley, Travis, Huentelman, Matthew J, Craig, David W, Pearson, John V, Szelinger, Szabolcs, Joshipura, Keta, Halperin, Rebecca F, Stamper, Chelsea, Jensen, Kendall R, Letizia, David, Hesterlee, Sharon E, Pestronk, Alan, Levine, Todd, Bertorini, Tulio, Graves, Michael C, Mozaffar, Tahseen, Jackson, Carlayne E, Bosch, Peter, McVey, April, Dick, Arthur, Barohn, Richard, Lomen-Hoerth, Catherine, Rosenfeld, Jeffrey, O'Connor, Daniel T, Zhang, Kuixing, Crook, Richard, Ryberg, Henrik, Hutton, Michael, Katz, Jonathan, Simpson, Ericka P, Mitsumoto, Hiroshi, Bowser, Robert, Miller, Robert G, Appel, Stanley H, Stephan, Dietrich A
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Sprache:eng
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Zusammenfassung:A genomewide analysis of sporadic ALS suggests that a variant of FLJ10986, a gene of unknown function expressed in the spinal cord and other tissues, may confer susceptibility to the disease. This study also provides provisional identification of other candidate genes, variants of which may underlie susceptibility. A genomewide analysis of sporadic ALS suggests that a variant of FLJ10986 , a gene of unknown function expressed in the spinal cord and other tissues, may confer susceptibility to the disease. Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease, with an incidence of 1 or 2 cases per 100,000 persons and a lifetime risk of 1 case per 800 persons. It is characterized by a progressive loss of motor neurons from the spinal cord, brain stem, and cerebral cortex, 1 leading to paralysis and death within 2 to 5 years after diagnosis, without intensive physiological support. Ten percent of ALS cases are familial forms resulting from highly penetrant, monogenic mutations that cause disease. Familial ALS is caused by mutation of many genes that have been identified, 2 including SOD1 (encoding . . .
ISSN:0028-4793
1533-4406
DOI:10.1056/NEJMoa070174