Sporadic juvenile amyotrophic lateral sclerosis caused by mutant FUS/TLS: possible association of mental retardation with this mutation

@article{Yamashita2011SporadicJA,
  title={Sporadic juvenile amyotrophic lateral sclerosis caused by mutant FUS/TLS: possible association of mental retardation with this mutation},
  author={Satoshi Yamashita and A. Mori and Hideya Sakaguchi and Toshimitsu Suga and Daijirou Ishihara and Akihiko Ueda and Taro Yamashita and Yasushi Maeda and Makoto Uchino and Teruyuki Hirano},
  journal={Journal of Neurology},
  year={2011},
  volume={259},
  pages={1039-1044}
}
We present two cases of patients with juvenile amyotrophic lateral sclerosis (ALS), who had no history of familial ALS. The symptoms of both patients started as weakness of the unilateral upper limb and neck, and extended to bulbar and respiratory weakness in a relatively short period. Of note, the first patient was mentally retarded before the onset of weakness. Fused in sarcoma/translocated in liposarcoma (FUS/TLS) gene analyses revealed mutations of p. G492EfsX527 (c. 1475delG), which is a… CONTINUE READING
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TDP-43 and FUS: a nuclear affair

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