Analysis of C9orf72 in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Argentina

Analysis of C9orf72 in patients with frontotemporal dementia and amyotrophic lateral sclerosis... Pathologic expansion of the G4C2 repeat in C9orf72 is the main genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). To evaluate the frequency of the G4C2 expansion in a Latin American cohort of FTD and ALS patients, we used a 2-step genotyping strategy. For FTD, we observed an overall expansion frequency of 18.2% (6 of 33 unrelated cases). Moreover, the C9orf72 expansion accounted for 37.5% of all familial FTD cases (6 of 16 families). The expansion frequency in sporadic ALS cases was 2% (1 of 47 unrelated patients), whereas we observed the expansion in 1 of 3 families with a positive history for ALS. Overall, the expansion frequency in our FTD group was similar to that reported for patients in Europe and North America, whereas the frequency in our sporadic ALS group was significantly lower. To our knowledge, this is the first report on the frequency of the C9orf72 expansion in a Latin American population. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Neurobiology of Aging Elsevier

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Publisher
Elsevier
Copyright
Copyright © 2016 Elsevier Inc.
ISSN
0197-4580
D.O.I.
10.1016/j.neurobiolaging.2016.02.001
Publisher site
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Abstract

Pathologic expansion of the G4C2 repeat in C9orf72 is the main genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). To evaluate the frequency of the G4C2 expansion in a Latin American cohort of FTD and ALS patients, we used a 2-step genotyping strategy. For FTD, we observed an overall expansion frequency of 18.2% (6 of 33 unrelated cases). Moreover, the C9orf72 expansion accounted for 37.5% of all familial FTD cases (6 of 16 families). The expansion frequency in sporadic ALS cases was 2% (1 of 47 unrelated patients), whereas we observed the expansion in 1 of 3 families with a positive history for ALS. Overall, the expansion frequency in our FTD group was similar to that reported for patients in Europe and North America, whereas the frequency in our sporadic ALS group was significantly lower. To our knowledge, this is the first report on the frequency of the C9orf72 expansion in a Latin American population.

Journal

Neurobiology of AgingElsevier

Published: Apr 1, 2016

References

  • Repeat expansion in C9ORF72 is not a major cause of amyotrophic lateral sclerosis among Iranian patients
    Alavi, A.; Nafissi, S.; Rohani, M.; Shahidi, G.; Zamani, B.; Shamshiri, H.; Safari, I.; Elahi, E.
  • Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis
    Jang, J.H.; Kwon, M.J.; Choi, W.J.; Oh, K.W.; Koh, S.H.; Ki, C.S.; Kim, S.H.
  • Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat
    Jones, A.R.; Woollacott, I.; Shatunov, A.; Cooper-Knock, J.; Buchman, V.; Sproviero, W.; Smith, B.; Scott, K.M.; Balendra, R.; Abel, O.; McGuffin, P.; Ellis, C.M.; Shaw, P.J.; Morrison, K.E.; Farmer, A.; Lewis, C.M.; Leigh, P.N.; Shaw, C.E.; Powell, J.F.; Al-Chalabi, A.
  • Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis
    Ogaki, K.; Li, Y.; Atsuta, N.; Tomiyama, H.; Funayama, M.; Watanabe, H.; Nakamura, R.; Yoshino, H.; Yato, S.; Tamura, A.; Naito, Y.; Taniguchi, A.; Fujita, K.; Izumi, Y.; Kaji, R.; Hattori, N.; Sobue, G.

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