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

[21]

Charcot J-M., 1874, Prog Med, V2, P325

[22] DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4) [J].

Chen, YZ ;

Bennett, CL ;

Huynh, HM ;

Blair, IP ;

Puls, I ;

Irobi, J ;

Dierick, I ;

Abel, A ;

Kennerson, ML ;

Rabin, BA ;

Nicholson, GA ;

Auer-Grumbach, M ;

Wagner, K ;

De Jonghe, P ;

Griffin, JW ;

Fischbeck, KH ;

Timmerman, V ;

Cornblath, DR ;

Chance, PF .

AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 74 (06) :1128-1135

[23] TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD [J].

Chou, Ching-Chieh ;

Zhang, Yi ;

Umoh, Mfon E. ;

Vaughan, Spencer W. ;

Lorenzini, Ileana ;

Liu, Feilin ;

Sayegh, Melissa ;

Donlin-Asp, Paul G. ;

Chen, Yu Han ;

Duong, Duc M. ;

Seyfried, Nicholas T. ;

Powers, Maureen A. ;

Kukar, Thomas ;

Hales, Chadwick M. ;

Gearing, Maria ;

Cairns, Nigel J. ;

Boylan, Kevin B. ;

Dickson, Dennis W. ;

Rademakers, Rosa ;

Zhang, Yong-Jie ;

Petrucelli, Leonard ;

Sattler, Rita ;

Zarnescu, Daniela C. ;

Glass, Jonathan D. ;

Rossoll, Wilfried .

NATURE NEUROSCIENCE, 2018, 21 (02) :228-+

[24] Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis [J].

Conforti, Francesca L. ;

Spataro, Rossella ;

Sproviero, William ;

Mazzei, Rosalucia ;

Cavalcanti, Francesca ;

Condino, Francesca ;

Simone, Isabella L. ;

Logroscino, Giancarlo ;

Patitucci, Alessandra ;

Magariello, Angela ;

Muglia, Maria ;

Rodolico, Carmelo ;

Valentino, Paola ;

Bono, Francesco ;

Colletti, Tiziana ;

Monsurro, Maria R. ;

Gambardella, Antonio ;

La Bella, Vincenzo .

NEUROLOGY, 2012, 79 (24) :2315-2320

[25] Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations [J].

Corcia, P. ;

Valdmanis, P. ;

Millecamps, S. ;

Lionnet, C. ;

Blasco, H. ;

Mouzat, K. ;

Daoud, H. ;

Belzil, V. ;

Morales, R. ;

Pageot, N. ;

Danel-Brunaud, V. ;

Vandenberghe, N. ;

Pradat, P. F. ;

Couratier, P. ;

Salachas, F. ;

Lumbroso, S. ;

Rouleau, G. A. ;

Meininger, V. ;

Camu, W. .

NEUROLOGY, 2012, 78 (19) :1519-1526

[26] FUSION OF CHOP TO A NOVEL RNA-BINDING PROTEIN IN HUMAN MYXOID LIPOSARCOMA [J].

CROZAT, A ;

AMAN, P ;

MANDAHL, N ;

RON, D .

NATURE, 1993, 363 (6430) :640-644

[27]

Cruveilhier J., 1853, Archives Generales de Medecine, V5, P561

[28] Association between TBK1 mutations and risk of amyotrophic lateral sclerosis/frontotemporal dementia spectrum: a meta-analysis [J].

Cui, Rongrong ;

Tuo, Miao ;

Li, Pengfei ;

Zhou, Chang .

NEUROLOGICAL SCIENCES, 2018, 39 (05) :811-820

[29] Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS [J].

DeJesus-Hernandez, Mariely ;

Mackenzie, Ian R. ;

Boeve, Bradley F. ;

Boxer, Adam L. ;

Baker, Matt ;

Rutherford, Nicola J. ;

Nicholson, Alexandra M. ;

Finch, NiCole A. ;

Flynn, Heather ;

Adamson, Jennifer ;

Kouri, Naomi ;

Wojtas, Aleksandra ;

Sengdy, Pheth ;

Hsiung, Ging-Yuek R. ;

Karydas, Anna ;

Seeley, William W. ;

Josephs, Keith A. ;

Coppola, Giovanni ;

Geschwind, Daniel H. ;

Wszolek, Zbigniew K. ;

Feldman, Howard ;

Knopman, David S. ;

Petersen, Ronald C. ;

Miller, Bruce L. ;

Dickson, Dennis W. ;

Boylan, Kevin B. ;

Graff-Radford, Neill R. ;

Rademakers, Rosa .

NEURON, 2011, 72 (02) :245-256

[30] Gene therapy for neurological disorders: progress and prospects (vol 17, pg 641, 2018) [J].

Deverman, Benjamin E. ;

Ravina, Bernard M. ;

Bankiewicz, Krystof S. ;

Paul, Steven M. ;

Sah, Dinah W. Y. .

NATURE REVIEWS DRUG DISCOVERY, 2018, 17 (10) :768-768

← 1 2 3 4 5 6 7 8 9 10 →