BACKGROUND: SMN1 gene deletions cause spinal muscular atrophy, and SMN2 gene deletions have been associated with sporadic lower motor neuron diseases. OBJECTIVES: To study the frequency of abnormal SMN1 gene copy numbers and to determine whether SMN2 gene modulates the risk of amyotrophic lateral sclerosis (ALS) or the duration of evolution. METHOD: The authors studied SMN1 and SMN2 genes in 600 patients with sporadic ALS and 621 controls using a quantitative PCR method. RESULTS: The authors found an association of ALS with an abnormal copy number (one or three copies) of SMN1 gene (p < 0.0001) with an OR of 2.8 (1.8 to 4.4, 95% CI). There was no association with SMN2 copy numbers and no effect of SMN2 copies on the duration of evolution in ALS independently of SMN1 copy number. CONCLUSION: Abnormal SMN1 gene copy numbers are a genetic risk factor in sporadic amyotrophic lateral sclerosis. There was no modulator effect of the SMN2 gene.
BACKGROUND:SMN1 gene deletions cause spinal muscular atrophy, and SMN2 gene deletions have been associated with sporadic lower motor neuron diseases. OBJECTIVES: To study the frequency of abnormal SMN1 gene copy numbers and to determine whether SMN2 gene modulates the risk of amyotrophic lateral sclerosis (ALS) or the duration of evolution. METHOD: The authors studied SMN1 and SMN2 genes in 600 patients with sporadic ALS and 621 controls using a quantitative PCR method. RESULTS: The authors found an association of ALS with an abnormal copy number (one or three copies) of SMN1 gene (p < 0.0001) with an OR of 2.8 (1.8 to 4.4, 95% CI). There was no association with SMN2 copy numbers and no effect of SMN2 copies on the duration of evolution in ALS independently of SMN1 copy number. CONCLUSION: Abnormal SMN1 gene copy numbers are a genetic risk factor in sporadic amyotrophic lateral sclerosis. There was no modulator effect of the SMN2 gene.
Authors: Philippe Corcia; Caroline Ingre; Helene Blasco; Rayomand Press; Julien Praline; Catherine Antar; Charlotte Veyrat-Durebex; Yves-Olivier Guettard; William Camu; Peter M Andersen; Patrick Vourc'h; Christian R Andres Journal: Eur J Hum Genet Date: 2012-01-25 Impact factor: 4.246
Authors: Marka van Blitterswijk; Bianca Mullen; Michael G Heckman; Matthew C Baker; Mariely DeJesus-Hernandez; Patricia H Brown; Melissa E Murray; Ging-Yuek R Hsiung; Heather Stewart; Anna M Karydas; Elizabeth Finger; Andrew Kertesz; Eileen H Bigio; Sandra Weintraub; Marsel Mesulam; Kimmo J Hatanpaa; Charles L White; Manuela Neumann; Michael J Strong; Thomas G Beach; Zbigniew K Wszolek; Carol Lippa; Richard Caselli; Leonard Petrucelli; Keith A Josephs; Joseph E Parisi; David S Knopman; Ronald C Petersen; Ian R Mackenzie; William W Seeley; Lea T Grinberg; Bruce L Miller; Kevin B Boylan; Neill R Graff-Radford; Bradley F Boeve; Dennis W Dickson; Rosa Rademakers Journal: Neurobiol Aging Date: 2014-05-02 Impact factor: 4.673
Authors: Silke Schmidt; Kelli D Allen; Valerie T Loiacono; Barbara Norman; Catherine L Stanwyck; Kristina M Nord; Christina D Williams; Edward J Kasarskis; Freya Kamel; Valerie McGuire; Lorene M Nelson; Eugene Z Oddone Journal: Neuroepidemiology Date: 2008-04-18 Impact factor: 3.282