A truncating SOD1 mutation, p.Gly141X, is associated with clinical and pathologic heterogeneity, including frontotemporal lobar degeneration

@article{Nakamura2015ATS,
  title={A truncating SOD1 mutation, p.Gly141X, is associated with clinical and pathologic heterogeneity, including frontotemporal lobar degeneration},
  author={Masataka Nakamura and Kevin F. Bieniek and Wen-lang Lin and Neill R. Graff-Radford and Melissa E. Murray and Monica Castanedes-Casey and Pamela Desaro and Matthew C. Baker and Nicola J. Rutherford and Janice Robertson and Rosa Rademakers and Dennis W. Dickson and Kevin B. Boylan},
  journal={Acta Neuropathologica},
  year={2015},
  volume={130},
  pages={145-157}
}
Amyotrophic lateral sclerosis (ALS) is a degenerative disorder affecting upper and lower motor neurons, but it is increasingly recognized to affect other systems, with cognitive impairment resembling frontotemporal dementia (FTD) in some patients. We report clinical and pathologic findings of a family with ALS due to a truncating mutation, p.Gly141X, in copper/zinc superoxide dismutase (SOD1). The proband presented clinically with FTD and later showed progressive motor neuron disease, while all… CONTINUE READING
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