Genetics of motor neuron disorders: new insights into pathogenic mechanisms

被引：213

作者：

Dion, Patrick A. ^{[1
]}

Daoud, Hussein ^{[1
]}

Rouleau, Guy A. ^{[1
]}

机构：

[1] Univ Montreal, Ctr Hosp Univ St Justine Res Ctr, Ctr Excellence Neur, Quebec City, PQ H2L 2W5, Canada

来源：

NATURE REVIEWS GENETICS | 2009年 / 10卷 / 11期

关键词：

AMYOTROPHIC-LATERAL-SCLEROSIS; HEREDITARY SPASTIC PARAPLEGIA; SPINAL MUSCULAR-ATROPHY; FRONTOTEMPORAL LOBAR DEGENERATION; CU/ZN SUPEROXIDE-DISMUTASE; GENOME-WIDE ASSOCIATION; PELIZAEUS-MERZBACHER-DISEASE; NUCLEOTIDE EXCHANGE FACTOR; ACETYL-COA TRANSPORTER; SPLICE-SITE MUTATION;

D O I：

10.1038/nrg2680

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The past few years have seen the identification of dozens of genes with causal roles in motor neuron diseases (MNDs), particularly for amyotrophic lateral sclerosis and hereditary spastic paraplegia. Although many additional MND genes remain to be identified, the accumulated genetic evidence has already provided new insights into MND pathogenesis, which adds to the well-established involvement of superoxide dismutase 1 (SOD1) mutations. The pathways that have been recently implicated include those that affect RNA processing, axonal transport and mitochondrial function. The functional classes of MND genes identified so far are likely to aid the selection of high-priority candidate genes for future investigation, including those for so-called sporadic cases.

引用

页码：769 / 782

页数：14

共 178 条

[21] A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis [J].

Chio, Adriano ;

Schymick, Jennifer C. ;

Restagno, Gabriella ;

Scholz, Sonja W. ;

Lombardo, Federica ;

Lai, Shiao-Lin ;

Mora, Gabriele ;

Fung, Hon-Chung ;

Britton, Angela ;

Arepalli, Sampath ;

Gibbs, J. Raphael ;

Nalls, Michael ;

Berger, Stephen ;

Kwee, Lydia Coulter ;

Oddone, Eugene Z. ;

Ding, Jinhui ;

Crews, Cynthia ;

Rafferty, Ian ;

Washecka, Nicole ;

Hernandez, Dena ;

Ferrucci, Luigi ;

Bandinelli, Stefania ;

Guralnik, Jack ;

Macciardi, Fabio ;

Torri, Federica ;

Lupoli, Sara ;

Chanock, Stephen J. ;

Thomas, Gilles ;

Hunter, David J. ;

Gieger, Christian ;

Wichmann, H. Erich ;

Calvo, Andrea ;

Mutani, Roberto ;

Battistini, Stefania ;

Giannini, Fabio ;

Caponnetto, Claudia ;

Mancardi, Giovanni Luigi ;

La Bella, Vincenzo ;

Valentino, Francesca ;

Monsurro, Maria Rosaria ;

Tedeschi, Gioacchino ;

Marinou, Kalliopi ;

Sabatelli, Mario ;

Conte, Amelia ;

Mandrioli, Jessica ;

Sola, Patrizia ;

Salvi, Fabrizio ;

Bartolomei, Ilaria ;

Siciliano, Gabriele ;

Carlesi, Cecilia .

HUMAN MOLECULAR GENETICS, 2009, 18 (08) :1524-1532

[22] Deleterious Variants of FIG4. a Phosphoinositide Phosphatase, in Patients with ALS [J].

Chow, Clement Y. ;

Landers, John E. ;

Bergen, Sarah K. ;

Sapp, Peter C. ;

Grant, Adrienne E. ;

Jones, Julie M. ;

Everett, Lesley ;

Lenk, Guy M. ;

McKenna-Yasek, Diane M. ;

Weisman, Lois S. ;

Figlewicz, Denise ;

Brown, Robert H. ;

Meisler, Miriam H. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 84 (01) :85-88

[23]

CORCIA P, 2009, AMYOTROPH LATERA 030, DOI DOI 10.1080/17482960902759162

[24] High Frequency of TARDBP Gene Mutations in Italian Patients With Amyotrophic Lateral Sclerosis [J].

Corrado, Lucia ;

Ratti, A. ;

Gellera, C. ;

Buratti, E. ;

Castellotti, B. ;

Carlomagno, Y. ;

Ticozzi, N. ;

Mazzini, L. ;

Testa, L. ;

Taroni, F. ;

Barlle, F. E. ;

Silani, V. ;

D'Alfonso, S. .

HUMAN MUTATION, 2009, 30 (04) :688-694

[25] Screening for replication of genome-wide SNP associations in sporadic ALS [J].

Cronin, Simon ;

Tomik, Barbara ;

Bradley, Daniel G. ;

Slowik, Agnieszka ;

Hardiman, Orla .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2009, 17 (02) :213-218

[26] Analysis of genome-wide copy number variation in Irish and Dutch ALS populations [J].

Cronin, Simon ;

Blauw, Hylke M. ;

Veldink, Jan H. ;

van Es, Michael A. ;

Ophoff, Roel A. ;

Bradley, Daniel G. ;

van den Berg, Leonard H. ;

Hardiman, Orla .

HUMAN MOLECULAR GENETICS, 2008, 17 (21) :3392-3398

[27] A genome-wide association study of sporadic ALS in a homogenous Irish population [J].

Cronin, Simon ;

Berger, Stephen ;

Ding, Jinhui ;

Schymick, Jennifer C. ;

Washecka, Nicole ;

Hernandez, Dena G. ;

Greenway, Matthew J. ;

Bradley, Daniel G. ;

Traynor, Bryan J. ;

Hardiman, Orla .

HUMAN MOLECULAR GENETICS, 2008, 17 (05) :768-774

[28] Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21 [J].

Cruts, Marc ;

Gijselinck, Ilse ;

van der Zee, Julie ;

Engelborghs, Sebastiaan ;

Wils, Hans ;

Pirici, Daniel ;

Rademakers, Rosa ;

Vandenberghe, Rik ;

Dermaut, Bart ;

Martin, Jean-Jacques ;

van Duijn, Cornelia ;

Peeters, Karin ;

Sciot, Raf ;

Santens, Patrick ;

De Pooter, Tim ;

Mattheijssens, Maria ;

Van den Broeck, Marleen ;

Cuijt, Ivy ;

Vennekens, Krist'l ;

De Deyn, Peter P. ;

Kumar-Singh, Samir ;

Van Broeckhoven, Christine .

NATURE, 2006, 442 (7105) :920-924

[29] Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis [J].

Daoud, H. ;

Valdmanis, P. N. ;

Kabashi, E. ;

Dion, P. ;

Dupre, N. ;

Camu, W. ;

Meininger, V. ;

Rouleau, G. A. .

JOURNAL OF MEDICAL GENETICS, 2009, 46 (02) :112-114

[30] DPP6 gene variability confers increased risk of developing sporadic amyotrophic lateral sclerosis in Italian patients [J].

Del Bo, R. ;

Ghezzi, S. ;

Corti, S. ;

Santoro, D. ;

Prelle, A. ;

Mancuso, M. ;

Siciliano, G. ;

Briani, C. ;

Murri, L. ;

Bresolin, N. ;

Comi, G. P. .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2008, 79 (09) :1085-1085

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