C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration.

@article{GmezTortosa2013C9ORF72HE,
  title={C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration.},
  author={Estrella G{\'o}mez-Tortosa and Jesus A. Gallego and Rosa Guerrero-L{\'o}pez and Alberto Garc{\'i}a Marcos and Eulogio Gil-Neciga and Mar{\'i}a Jos{\'e} Sainz and Asunci{\'o}n D{\'i}az and Emilio Franco-Mac{\'i}as and Mar{\'i}a Jos{\'e} Trujillo-Tiebas and Carmen Ayuso and Juli{\'a}n P{\'e}rez-P{\'e}rez},
  journal={Neurology},
  year={2013},
  volume={80 4},
  pages={366-70}
}
OBJECTIVE Expansions of more than 30 hexanucleotide repetitions in the C9ORF72 gene are a common cause of frontotemporal dementia (FTD) or amyotrophic lateral sclerosis (ALS). However, the range of 20-30 repetitions is rarely found and still has unclear significance. A screening of our cohort of cases with FTD (n = 109) revealed 4 mutation carriers (>30 repetitions) but also 5 probands with 20-22 confirmed repetitions. This study explored the possible pathogenic correlation of the 20-22 repeats… CONTINUE READING
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