Age-related penetrance of the C9orf72 repeat expansion

@inproceedings{Murphy2017AgerelatedPO,
  title={Age-related penetrance of the C9orf72 repeat expansion},
  author={Natalie A. Murphy and Karissa C. Arthur and Pentti J. Tienari and Henry Houlden and Adriano Chi{\`o} and Bryan J. Traynor},
  booktitle={Scientific Reports},
  year={2017}
}
A pathogenic hexanucleotide repeat expansion within the C9orf72 gene has been identified as the major cause of two neurodegenerative syndromes, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This mutation is known to have incomplete penetrance, with some patients developing disease in their twenties and a small portion of carriers surviving to their ninth decade without developing symptoms. Describing penetrance by age among C9orf72 carriers and identifying parameters… CONTINUE READING
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