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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 14, 2013 - Issue 7-8
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Brief Report

C9orf72 repeat expansions are not detected in Chinese patients with familial ALS

Rong LiuDepartment of Neurology, Peking University Third Hospital, Haidian District, Beijing, China
,
Lu TangDepartment of Neurology, Peking University Third Hospital, Haidian District, Beijing, China
,
Bin CaiDepartment of Neurology, Peking University Third Hospital, Haidian District, Beijing, China
,
Xiaolu LiuDepartment of Neurology, Peking University Third Hospital, Haidian District, Beijing, China
,
Shan YeDepartment of Neurology, Peking University Third Hospital, Haidian District, Beijing, China
,
Yan MaDepartment of Neurology, Peking University Third Hospital, Haidian District, Beijing, China
,
Huagang ZhangDepartment of Neurology, Peking University Third Hospital, Haidian District, Beijing, China
&
Dongsheng FanDepartment of Neurology, Peking University Third Hospital, Haidian District, Beijing, ChinaCorrespondence[email protected]
 show all
Pages 630-631 | Received 28 Apr 2013, Accepted 15 Jun 2013, Published online: 22 Jul 2013

References

  • DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, et al. Expanded GGGGCC hexanucleotide repeat in non-coding region of C9orf72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011;72:245–56.
  • Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, et al. A hexanucleotide repeat expansion in C9orf72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011;72:257–68.
  • Hosler BA, Siddique T, Sapp PC, Sailor W, Huang MC, Hossain A, et al. Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21–q22. JAMA. 2000;284:1664–9.
  • Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol. 2012;11:323–30.
  • Garcia-Redondo A, Dols-Icardo O, Rojas-Garcia R, Esteban-Perez J, Cordero-Vazquez P, Munoz-Blanco JL, et al. Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide. Hum Mutat. 2013;34:79–82.
  • Tsai CP, Soong BW, Tu PH, Lin KP, Fuh JL, Tsai PC, et al. A hexanucleotide repeat expansion in C9orf72 causes familial and sporadic ALS in Taiwan. Neurobiol Aging. 2012;33:2232.
  • Zou ZY, Li XG, Liu MS, Cui LY. Screening for C9orf72 repeat expansions in Chinese amyotrophic lateral sclerosis patients. Neurobiol Aging. 2013;34:1710.
  • Ogaki K, Li Y, Atsuta N, Tomiyama H, Funayama M, Watanabe H, et al. Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis. Neurobiol Aging. 2012;33:2527.
  • Jang JH, Kwon MJ, Choi WJ, Oh KW, Koh SH, Ki CS, et al. Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis. Neurobiol Aging. 2013;34: 1311.
  • Kandiah N, Sengdy P, DeJesus-Hernandez M, Rademakers R, Mackenzie I, Hsiung G. Rapidly progressive dementia in a Chinese patient due to C9orf72 mutation. Can J Neurol Sci. 2012;39:676–7.

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