Different clinical and neuropathologic phenotypes of familial ALS with A315E TARDBP mutation.

@article{Fujita2011DifferentCA,
  title={Different clinical and neuropathologic phenotypes of familial ALS with A315E TARDBP mutation.},
  author={Yasuyuki Fujita and Manabu Ikeda and Toshiyuki Yanagisawa and Yasushi Senoo and Koichi Okamoto},
  journal={Neurology},
  year={2011},
  volume={77 15},
  pages={
          1427-31
        }
}
OBJECTIVE To present the relationship between TARDBP gene mutation and clinicopathologic findings of a Japanese pedigree affected by familial amyotrophic lateral sclerosis (FALS). METHODS The clinical, genetic, and neuropathologic characteristics of 4 members of a Japanese pedigree affected by FALS were examined. RESULTS All the patients showed motor neuron signs, and 2 of them also had parkinsonism. We identified A315E TARDBP mutation in one patient per clinical disease type and found loss… CONTINUE READING
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