Genetics of amyotrophic lateral sclerosis: A review

被引：170

作者：

Mathis, Stephane ^{[1
,2
]}

Goizet, Cyril ^{[3
,4
]}

Soulages, Antoine ^{[1
]}

Vallat, Jean-Michel ^{[5
]}

Le Masson, Gwendal ^{[1
,6
,7
]}

机构：

[1] Univ Bordeaux, Pellegrin Hosp, CHU Bordeaux, Dept Neurol,Nerve Muscle Unit, F-33000 Bordeaux, France

[2] Univ Bordeaux, Pellegrin Hosp, CHU Bordeaux, ALS Ctr,Nerve Muscle Unit, F-33000 Bordeaux, France

[3] Univ Bordeaux, Pellegrin Hosp, CHU Bordeaux, Dept Med Genet,Ctr Reference Malad Rares Neurogen, F-33000 Bordeaux, France

[4] INSERM U1211, Lab MRGM, F-33000 Bordeaux, France

[5] Ctr Reference Neuropathies Rares, Dept Neurol, 2 Ave Martin Luther King, F-87000 Limoges, France

[6] Univ Bordeaux, Neuroctr Magendie Physiopathol Plasticite Neurona, U862, F-33000 Bordeaux, France

[7] INSERM, Neuroctr Magendie Physiopathol Plasticite Neurona, U862, F-33000 Bordeaux, France

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2019年 / 399卷

关键词：

Amyotrophic lateral sclerosis; Genetics; C9ORF72; SOD1; TDP-43; FUS; Classification; MOTOR-NEURON DISEASE; RNA-BINDING PROTEIN; SPINAL MUSCULAR-ATROPHY; SUPEROXIDE-DISMUTASE; EPIDEMIOLOGIC INVESTIGATIONS; FRONTOTEMPORAL DEMENTIA; HEXANUCLEOTIDE REPEAT; ALS; MUTATIONS; FUS;

D O I：

10.1016/j.jns.2019.02.030

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder of the motor pathways, invariably leading to death within a few years of onset. Most cases of ALS are sporadic, but familial forms of the disease (FALS) constitute 10% of the cases. Since the first identification of a causative gene in the 1990s and with recent advances in genetics, more than twenty genes have now been linked to FALS. This increased number of genes led to a tremendous amount of research, clearly contributed to a better understanding of the pathophysiology of this disorder, and paved the way for the development of new therapeutics and new hope for this fatal disease.

引用

页码：217 / 226

页数：10

共 131 条

[51] FAMILIAL MOTOR NEURON DISEASE - EVIDENCE FOR AT LEAST 3 DIFFERENT TYPES [J].

HORTON, WA ;

ELDRIDGE, R ;

BRODY, JA .

NEUROLOGY, 1976, 26 (05) :460-465

[52] Amyotrophic lateral sclerosis. Multisystem degeneration [J].

Huebers, A. ;

Ludolph, A. C. ;

Rosenbohm, A. ;

Pinkhardt, E. H. ;

Weishaupt, J. H. ;

Dorst, J. .

NERVENARZT, 2016, 87 (02) :179-188

[53]

HUSQUINET H, 1980, CLIN GENET, V18, P109

[54]

Huynh DP, 1999, ANN NEUROL, V45, P232, DOI 10.1002/1531-8249(199902)45:2<232::AID-ANA14>3.0.CO

[55]

2-7

[56] Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats [J].

Imbert, G ;

Saudou, F ;

Yvert, G ;

Devys, D ;

Trottier, Y ;

Garnier, JM ;

Weber, C ;

Mandel, JL ;

Cancel, G ;

Abbas, N ;

Durr, A ;

Didierjean, O ;

Stevanin, G ;

Agid, Y ;

Brice, A .

NATURE GENETICS, 1996, 14 (03) :285-291

[57] Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs [J].

Jiang, Jie ;

Zhu, Qiang ;

Gendron, Tania F. ;

Saberi, Shahram ;

McAlonis-Downes, Melissa ;

Seelman, Amanda ;

Stauffer, Jennifer E. ;

Jafar-nejad, Paymaan ;

Drenner, Kevin ;

Schulte, Derek ;

Chun, Seung ;

Sun, Shuying ;

Ling, Shuo-Chien ;

Myers, Brian ;

Engelhardt, Jeffery ;

Katz, Melanie ;

Baughn, Michael ;

Platoshyn, Oleksandr ;

Marsala, Martin ;

Watt, Andy ;

Heyser, Charles J. ;

Ard, M. Colin ;

De Muynck, Louis ;

Daughrity, Lillian M. ;

Swing, Deborah A. ;

Tessarollo, Lino ;

Jung, Chris J. ;

Delpoux, Arnaud ;

Utzschneider, Daniel T. ;

Hedrick, Stephen M. ;

de Jong, Pieter J. ;

Edbauer, Dieter ;

Van Damme, Philip ;

Petrucelli, Leonard ;

Shaw, Christopher E. ;

Bennett, C. Frank ;

Da Cruz, Sandrine ;

Ravits, John ;

Rigo, Frank ;

Cleveland, Don W. ;

Lagier-Tourenne, Clotilde .

NEURON, 2016, 90 (03) :535-550

[58] Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS [J].

Johnson, Jane O. ;

Mandrioli, Jessica ;

Benatar, Michael ;

Abramzon, Yevgeniya ;

Van Deerlin, Vivianna M. ;

Trojanowski, John Q. ;

Gibbs, J. Raphael ;

Brunetti, Maura ;

Gronka, Susan ;

Wuu, Joanne ;

Ding, Jinhui ;

McCluskey, Leo ;

Martinez-Lage, Maria ;

Falcone, Dana ;

Hernandez, Dena G. ;

Arepalli, Sampath ;

Chong, Sean ;

Schymick, Jennifer C. ;

Rothstein, Jeffrey ;

Landi, Francesco ;

Wang, Yong-Dong ;

Calvo, Andrea ;

Mora, Gabriele ;

Sabatelli, Mario ;

Monsurro, Maria Rosaria ;

Battistini, Stefania ;

Salvi, Fabrizio ;

Spataro, Rossella ;

Sola, Patrizia ;

Borghero, Giuseppe ;

Galassi, Giuliana ;

Scholz, Sonja W. ;

Taylor, J. Paul ;

Restagno, Gabriella ;

Chio, Adriano ;

Traynor, Bryan J. .

NEURON, 2010, 68 (05) :857-864

[59] TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis [J].

Kabashi, Edor ;

Valdmanis, Paul N. ;

Dion, Patrick ;

Spiegelman, Dan ;

McConkey, Brendan J. ;

Velde, Christine Vande ;

Bouchard, Jean-Pierre ;

Lacomblez, Lucette ;

Pochigaeva, Ksenia ;

Salachas, Francois ;

Pradat, Pierre-Francois ;

Camu, William ;

Meininger, Vincent ;

Dupre, Nicolas ;

Rouleau, Guy A. .

NATURE GENETICS, 2008, 40 (05) :572-574

[60] Mass spectrometric analysis of accumulated TDP-43 in amyotrophic lateral sclerosis brains [J].

Kametani, Fuyuki ;

Obi, Tomokazu ;

Shishido, Takeo ;

Akatsu, Hiroyasu ;

Murayama, Shigeo ;

Saito, Yuko ;

Yoshida, Mari ;

Hasegawa, Masato .

SCIENTIFIC REPORTS, 2016, 6

← 1 2 3 4 5 6 7 8 9 10 →