Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients

被引:15
|
作者
Ramos, Eliana Marisa [2 ,3 ]
Keagle, Pamela [1 ]
Gillis, Tammy [2 ]
Lowe, Patrick [1 ]
Mysore, Jayalakshmi S. [2 ]
Leclerc, Ashley Lyn [1 ]
Ratti, Antonia [4 ,5 ]
Ticozzi, Nicola [4 ,5 ]
Gellera, Cinzia [6 ]
Gusella, James F. [2 ]
Silani, Vincenzo [4 ,5 ]
Alonso, Isabel [3 ]
Brown, Robert H., Jr. [1 ]
Macdonald, Marcy E. [2 ]
Landers, John E. [1 ]
机构
[1] Univ Massachusetts, Sch Med, Dept Neurol, Worcester, MA 01610 USA
[2] Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA
[3] Univ Porto, IBMC Inst Mol & Cell Biol, UnIGENe, P-4100 Oporto, Portugal
[4] Univ Milan, IRCCS Ist Auxol Italiano, Dino Ferrari Ctr, Dept Neurol, Milan, Italy
[5] Univ Milan, IRCCS Ist Auxol Italiano, Dino Ferrari Ctr, Neurosci Lab, Milan, Italy
[6] Fdn IRCCS Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Milan, Italy
来源
AMYOTROPHIC LATERAL SCLEROSIS | 2012年 / 13卷 / 03期
基金
美国国家卫生研究院;
关键词
Huntington's disease; amyotrophic lateral sclerosis; trinucleotide repeat; neurodegenerative disease; polyglutamine expansion; LENGTH POLYGLUTAMINE EXPANSIONS; MOTOR-NEURON DISEASE; HEXANUCLEOTIDE REPEAT; TRINUCLEOTIDE REPEAT; ALS PATIENTS; MUTATIONS; PROTEIN; CHOREA; CHROMOSOMES; OPTINEURIN;
D O I
10.3109/17482968.2011.653573
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
A higher prevalence of intermediate ataxin-2 CAG repeats in amyotrophic lateral sclerosis (ALS) patients has raised the possibility that CAG expansions in other polyglutamine disease genes could contribute to ALS neurodegeneration. We sought to determine whether expansions of the CAG repeat of the HTT gene that causes Huntington's disease, are associated with ALS. We compared the HTT CAG repeat length on a total of 3144 chromosomes from 1572 sporadic ALS patients and 4007 control chromosomes, and also tested its possible effects on ALS-specific parameters, such as age and site of onset and survival rate. Our results show that the CAG repeat in the HTT gene is not a risk factor for ALS nor modifies its clinical presentation. These findings suggest that distinct neuronal degeneration processes are involved in these two different neurodegenerative disorders.
引用
收藏
页码:265 / 269
页数:5
相关论文
共 50 条
  • [1] Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder
    Ramos, Eliana Marisa
    Gillis, Tammy
    Mysore, Jayalakshmi S.
    Lee, Jong-Min
    Alonso, Isabel
    Gusella, James F.
    Smoller, Jordan W.
    Sklar, Pamela
    MacDonald, Marcy E.
    Perlis, Roy H.
    [J]. BIPOLAR DISORDERS, 2015, 17 (04) : 403 - 408
  • [2] Amyotrophic lateral sclerosis in Huntington disease gene carrier
    Bernard, E.
    Mouzat, K.
    Leblanc, P.
    Bost, M.
    Lumbroso, S.
    Thobois, S.
    Broussolle, E.
    [J]. REVUE NEUROLOGIQUE, 2017, 173 (10) : 670 - 671
  • [3] CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis
    Bruson, A.
    Sambataro, F.
    Querin, G.
    D'Ascenzo, C.
    Palmieri, A.
    Agostini, J.
    Gaiani, A.
    Angelini, C.
    Galbiati, M.
    Poletti, A.
    Pennuto, M.
    Pegoraro, E.
    Clementi, M.
    Soraru, G.
    [J]. EUROPEAN JOURNAL OF NEUROLOGY, 2012, 19 (10) : 1373 - 1375
  • [4] Huntington's disease presenting as amyotrophic lateral sclerosis
    Phukan, Julie
    Ali, Elfatih
    Pender, Niall P.
    Molloy, Fiona
    Hennessy, Michael
    Walsh, Ronan J.
    Hardiman, Orla
    [J]. AMYOTROPHIC LATERAL SCLEROSIS, 2010, 11 (04): : 405 - 407
  • [5] Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis
    Manini, Arianna
    Gagliardi, Delia
    Meneri, Megi
    Antognozzi, Sara
    Del Bo, Roberto
    Scaglione, Cesa
    Comi, Giacomo Pietro
    Corti, Stefania
    Ronchi, Dario
    [J]. ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2022, 9 (11): : 1820 - 1825
  • [6] Reduced-penetrance Huntington's disease-causing alleles with 39 CAG trinucleotide repeats could be a genetic factor of amyotrophic lateral sclerosis
    Jih, Kang-Yang
    Lai, Kuan-Lin
    Lin, Kon-Ping
    Liao, Yi-Chu
    Lee, Yi-Chung
    [J]. JOURNAL OF THE CHINESE MEDICAL ASSOCIATION, 2023, 86 (01) : 47 - 51
  • [7] Animal models of amyotrophic lateral sclerosis and Huntington’s disease
    Abu M. T. Islam
    Jina Kwak
    Yoo Jung Jung
    Yun Kee
    [J]. Genes & Genomics, 2014, 36 : 399 - 413
  • [8] Huntingtin gene CAG repeat numbers in Chinese patients with Huntington's disease and controls
    Jiang, H.
    Sun, Y. M.
    Hao, Y.
    Yan, Y. P.
    Chen, K.
    Xin, S. H.
    Tang, Y. P.
    Li, X. H.
    Jun, T.
    Chen, Y. Y.
    Liu, Z. J.
    Wang, C. R.
    Li, H.
    Pei, Z.
    Shang, H. F.
    Zhang, B. R.
    Gu, W. H.
    Wu, Z. Y.
    Tang, B. S.
    Burgunder, J. -M.
    [J]. EUROPEAN JOURNAL OF NEUROLOGY, 2014, 21 (04) : 637 - 642
  • [9] Animal models of amyotrophic lateral sclerosis and Huntington's disease
    Islam, Abu M. T.
    Kwak, Jina
    Jung, Yoo
    Kee, Yun
    [J]. GENES & GENOMICS, 2014, 36 (04) : 399 - 413
  • [10] De novo expansion of a CAG repeat in a Japanese patient with sporadic Huntington's disease
    Watanabe, M
    Satoh, A
    Kanemoto, M
    Ohkoshi, N
    Shoji, S
    [J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 2000, 178 (02) : 159 - 162