Frontotemporal dementia with amyotrophic lateral sclerosis: a clinical comparison of patients with and without repeat expansions in C9orf72.

@article{Snowden2013FrontotemporalDW,
  title={Frontotemporal dementia with amyotrophic lateral sclerosis: a clinical comparison of patients with and without repeat expansions in C9orf72.},
  author={Julie S. Snowden and Jennifer M. Harris and Anna M. T. Richardson and Sara J Rollinson and Jennifer C. Thompson and David Neary and David M A Mann and Stuart M. Pickering-Brown},
  journal={Amyotrophic lateral sclerosis & frontotemporal degeneration},
  year={2013},
  volume={14 3},
  pages={172-6}
}
Repeat expansions in C9orf72 are a major cause of frontotemporal dementia with amyotrophic lateral sclerosis (FTD-ALS). Not all FTD-ALS patients show expansions. The study examined whether there are clinical differences between FTD-ALS patients with and without expansions in C9orf72. We examined case notes from consecutive FTD-ALS patients, screened for C9orf72 expansions, and documented demographic, neurological, behavioural and cognitive characteristics. Sixty patients met the selection… CONTINUE READING

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