Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis.

@article{Corcia2002AbnormalSG,
  title={Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis.},
  author={Philippe Corcia and V{\'e}ronique Mayeux-Portas and Jawad Khoris and Bertrand de Toffol and Alain Autret and Jean-Pierre M{\"u}h and William Camu and Christian Andres},
  journal={Annals of neurology},
  year={2002},
  volume={51 2},
  pages={243-6}
}
The etiology of amyotrophic lateral sclerosis remains unknown in the majority of cases. Homozygous SMN1 (survival motor neuron) gene deletion causes spinal muscular atrophy, and SMN2 gene deletions are possible risk factors in lower motor neuron disease. We studied SMN1 and SMN2 genes copy numbers in 167 amyotrophic lateral sclerosis patients and in 167 matched controls. We noted that 16% of amyotrophic lateral sclerosis patients had an abnormal copy number of the SMN1 gene (1 or 3 copies… CONTINUE READING
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