Genetics of amyotrophic lateral sclerosis

Cold Spring Harbor Perspectives in Medicine

Volumn 8, Issue 5, 2018, Pages

  Ghasemi, Mehdi ^a   Brown, Robert H ^a  

^a UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANGIOGENIN; ATAXIN 2; CHEMOKINE RECEPTOR CX3CR1; CHROMOGRANIN B; DYNACTIN; EPHRIN A3; EPHRIN A4; GELATINASE B; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A1; MATRIN 3; NATURAL RESISTANCE ASSOCIATED MACROPHAGE PROTEIN 2; OPTINEURIN; PROFILIN 1; PROTEIN; RIBONUCLEASE 4; RNA BINDING PROTEIN FUS; SUPEROXIDE DISMUTASE; TRANSACTIVE RESPONSE DNA BINDING PROTEIN; TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 2; UBIQUILIN 2; UNCLASSIFIED DRUG; VALOSIN CONTAINING PROTEIN; SIGNAL PEPTIDE;

AMYOTROPHIC LATERAL SCLEROSIS; ARHGEF1 GENE; ARTICLE; CHCHD10 GENE; GENE; GENE FUNCTION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENETIC VARIATION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; HNRNPA2B1 GENE; HUMAN; NIPA1 GENE; NONHUMAN; ONSET AGE; PATHOGENESIS; PHENOTYPE; PROTEIN HOMEOSTASIS; RNA METABOLISM; TMEM106B GENE; TWIN STUDY; FRONTOTEMPORAL DEMENTIA; GENETIC ASSOCIATION STUDY;

AMYOTROPHIC LATERAL SCLEROSIS; FRONTOTEMPORAL DEMENTIA; GENETIC ASSOCIATION STUDIES; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS;

EID: 85022091577     PISSN: None     EISSN: 21571422     Source Type: Journal    
DOI: 10.1101/cshperspect.a024125     Document Type: Article

References (203)

1. Abel O, Powell JF, Andersen PM, Al-Chalabi A. 2012. ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics. Hum Mutat 33: 1345-1351.
2. Abramzon Y, Johnson JO, Scholz SW, Taylor JP, Brunetti M, Calvo A, Mandrioli J, Benatar M, Mora G, Restagno G, et al. 2012. Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis. Neurobiol Aging 33: 2231e1-2231e6.
3. Ahmeti KB, Ajroud-Driss S, Al-Chalabi A, Andersen PM, Armstrong J, Birve A, Blauw HM, Brown RH, Bruijn L, Chen W, et al. 2013. Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. Neurobiol Aging 34: 357.e7-e19.
4. Ajroud-Driss S, Fecto F, Ajroud K, Lalani I, Calvo SE, Mootha VK, Deng HX, Siddique N, Tahmoush AJ, Heiman-Patterson TD, et al. 2015. Mutation in the novel nuclearencoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy. Neurogenetics 16: 1-9.
5. Akassoglou K, Malester B, Xu J, Tessarollo L, Rosenbluth J, Chao MV. 2004. Brain-specific deletion of neuropathy target esterase/swisscheese results in neurodegeneration. Proc Natl Acad Sci 101: 5075-5080.
6. Al-Chalabi A, Fang F, Hanby MF, Leigh PN, Shaw CE, Ye W, Rijsdijk F. 2010. An estimate of amyotrophic lateral sclerosis heritability using twin data. J Neurol Neurosurg Psychiatry 81: 1324-1326.
7. Al-Saif A, Al-Mohanna F, Bohlega S. 2011. A mutation in s1 receptor causes juvenile amyotrophic lateral sclerosis. Ann Neurol 70: 913-919.
8. Andersen PM, Nilsson P, Ala-Hurula V, Keranen ML, Tarvainen I, Haltia T, Nilsson L, Binzer M, Forsgren L, Marklund SL. 1995. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. Nat Genet 10: 61-66.
9. Andersen PM, Al-Chalabi A. 2011. Clinical genetics of amyotrophic lateral sclerosis: What do we really know? Nat Rev Neurol 7: 603-615.
10. Ash PE, Bieniek KF, Gendron TF, Caulfield T, Lin WL, Dejesus-Hernandez M, van Blitterswijk MM, Jansen-West K, Paul JW III, Rademakers R, et al. 2013. Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron 77: 639-646.
11. Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, et al. 2014. Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease. Brain 137: e310.
12. Baumer D, East SZ, Tseu B, Zeman A, Hilton D, Talbot K, Ansorge O. 2014. FTLD-ALS of TDP-43 type and SCA2 in a family with a full ataxin-2 polyglutamine expansion. Acta Neuropathol 128: 597-604.
13. Beaulieu JM, Nguyen MD, Julien JP. 1999. Late onset of motor neurons in mice overexpressing wild-type peripherin. J Cell Biol 147: 531-544.
14. Bekenstein U, Soreq H. 2013. Heterogeneous nuclear ribonucleoprotein A1 in health and neurodegenerative disease: From structural insights to post-transcriptional regulatory roles. Mol Cell Neurosci 56: 436-446.
15. Belzil VV, Daoud H, Camu W, Strong MJ, Dion PA, Rouleau GA. 2013. Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia. Eur J Hum Genet 21: 237-239.
16. Blasco H, Corcia P, Veyrat-Durebex C, Coutadeur C, Fournier C, Camu W, Gordon P, Praline J, Andres CR, Vourc’h P, et al. 2011a. The P413L chromogranin B variation in French patients with sporadic amyotrophic lateral sclerosis. Amyotroph Lateral Scler 12: 210-214.
17. Blasco H, Vourc’h P, Nadjar Y, Ribourtout B, Gordon PH, Guettard YO, Camu W, Praline J, Meininger V, Andres CR, et al. 2011b. Association between divalent metal transport 1 encoding gene (SLC11A2) and disease duration in amyotrophic lateral sclerosis. J Neurol Sci 303: 124-127.
18. Blauw HM, Veldink JH, van Es MA, van Vught PW, Saris CG, van der Zwaag B, Franke L, Burbach JP, Wokke JH, Ophoff RA, et al. 2008. Copy-number variation in sporadic amyotrophic lateral sclerosis: A genome-wide screen. Lancet Neurol 7: 319-326.
19. Blauw HM, Al-Chalabi A, Andersen PM, van Vught PW, Diekstra FP, van Es MA, Saris CG, Groen EJ, van Rheenen W, Koppers M, et al. 2010. A large genome scan for rare CNVs in amyotrophic lateral sclerosis. Hum Mol Genet 19: 4091-4099.
20. Blauw HM, Barnes CP, van Vught PW, van Rheenen W, Verheul M, Cuppen E, Veldink JH, van den Berg LH. 2012a. SMN1 gene duplications are associated with sporadic ALS. Neurology 78: 776-780.
21. Blauw HM, van Rheenen W, Koppers M, Van Damme P, Waibel S, Lemmens R, van Vught PW, Meyer T, Schulte C, Gasser T, et al. 2012b. NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis. Hum Mol Genet 21: 2497-2502.
22. Bosch AM, Abeling NG, Ijlst L, Knoester H, van der Pol WL, Stroomer AE, Wanders RJ, Visser G, Wijburg FA, Duran M, et al. 2011. Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: A new inborn error of metabolism with potential treatment. J Inherit Metab Dis 34: 159-164.
23. Bosco DA, Morfini G, Karabacak NM, Song Y, Gros-Louis F, Pasinelli P, Goolsby H, Fontaine BA, Lemay N, McKenna-Yasek D, et al. 2010. Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS. Nat Neurosci 13: 1396-1403.
24. Breuer AC, Lynn MP, Atkinson MB, Chou SM, Wilbourn AJ, Marks KE, Culver JE, Fleegler EJ. 1987. Fast axonal transport in amyotrophic lateral sclerosis: An intra-axonal organelle traffic analysis. Neurology 37: 738-748.
25. Broom WJ, Johnson DV, Auwarter KE, Iafrate AJ, Russ C, AlChalabi A, Sapp PC, McKenna-Yasek D, Andersen PM, Brown RH Jr. 2008. SOD1A4V-mediated ALS: Absence of a closely linked modifier gene and origination in Asia. Neurosci Lett 430: 241-245.
26. Butterfield RJ, Ramachandran D, Hasstedt SJ, Otterud BE, Leppert MF, Swoboda KJ, Flanigan KM. 2009. A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22. Neuromusc Disord 19: 279-287.
27. Cady J, Koval ED, Benitez BA, Zaidman C, Jockel-Balsarotti J, Allred P, Baloh RH, Ravits J, Simpson E, Appel SH, et al. 2014. TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis. JAMA Neurol 71: 449-453
28. Cannon A, Baker M, Boeve B, Josephs K, Knopman D, Petersen R, Parisi J, Dickison D, Adamson J, Snowden J, et al. 2006. CHMP2B mutations are not a common cause of frontotemporal lobar degeneration. Neurosci Lett 398: 83-84.
29. Cardona AE, Pioro EP, Sasse ME, Kostenko V, Cardona SM, Dijkstra IM, Huang D, Kidd G, Dombrowski S, Dutta R, et al. 2006. Control of microglial neurotoxicity by the fractalkine receptor. Nat Neurosci 9: 917-924.
30. Chang J, Lee S, Blackstone C. 2014. Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation. J Clin Invest 124: 5249-5262.
31. Chaussenot A, Le Ber I, Ait-El-Mkadem S, Camuzat A, de Septenville A, Bannwarth S, Genin EC, Serre V, Auge G, Brice A, Pouget J, et al. 2014. Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients. Neurobiol Aging 35: 2884e1-2884e4
32. Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, Dierick I, Abel A, Kennerson ML, Rabin BA, et al. 2004. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet 74: 1128-1135.
33. Chesi A, Staahl BT, Jovicic A, Couthouis J, Fasolino M, Raphael AR, Yamazaki T, Elias L, Polak M, Kelly C, et al. 2013. Exome sequencing to identify de novo mutations in sporadic ALS trios. Nat Neurosci 16: 851-855
34. Chio A, Schymick JC, Restagno G, Scholz SW, Lombardo F, Lai SL, Mora G, Fung HC, Britton A, Arepalli S, et al. 2009. A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Hum Mol Genet 18: 1524-1532.
35. Chio A, Restagno G, Brunetti M, Ossola I, Calvo A, Canosa A, Moglia C, Floris G, Tacconi P, Marrosu F, et al. 2012. ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations. J Neurol Neurosurg Psychiatry 83: 730-733.
36. Chio A, Mora G, Restagno G, Brunetti M, Ossola I, Barberis M, Ferrucci L, Canosa A, Manera U, Moglia C, et al. 2013. UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: A population-based study. Neurobiol Aging 34: 357e1-357e5.
37. Chow CY, Landers JE, Bergre SK, Sapp PC, Grant AE, Jones JM, Everett L, Lenk GM, McKenna-Yasek DM, Weisman LS, et al. 2009. Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. Am J Hum Genet 84: 85-88.
38. Cirulli ET, Lasseigne BN, Petrovski S, Sapp PC, Dion PA, Leblond CS, Couthouis J, Lu YF, Wang Q, Krueger BJ, et al. 2015. Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science 347: 1436-1441.
39. Cooper-Knock J, Hewitt C, Highley JR., Brockington A, Milano A, Man S, Martindale J, Hartley J, Walsh T, Gelsthorpe C, et al. 2012. Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain J Neurol 135: 751-764.
40. Couthouis J, Hart MP, Shorter J, DeJesus-Hernandez M, Erion R, Oristano R, Liu AX, Ramos D, Jethava N, Hosangadi D, et al. 2011. A yeast functional screen predicts new candidate ALS disease genes. Proc Natl Acad Sci 108: 20881-20890.
41. Couthouis J, Hart MP, Erion R, King OD, Diaz Z, Nakaya T, Ibrahim F, Kim HJ, Mojsilovic-Petrovic J, Panossian S, et al. 2012. Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis. Hum Mol Genet 21: 2899-2911.
42. Cronin S, Berger S, Ding J, Schymick JC, Washecka N, Hernandez DG, Greenway MJ, Bradley DG, Traynor BJ, Hardiman O. 2008. A genome-wide association study of sporadic ALS in a homogenous Irish population. Hum Mol Genet 17: 768-774.
43. Cronin S, Tomik B, Bradley DG, Slowik A, Hardiman O. 2009. Screening for replication of genome-wide SNP associations in sporadic ALS. Eur J Hum Genet 17: 213-218.
44. Cudkowicz M, McKenna-Yasek D, Sapp P, Chin W, Geller B, Hayden D, Horvtiz H, Brown R. 1997. Epidemiology of SOD1 mutations in amyotrophic lateral sclerosis. Ann Neurol 41: 210-212.
45. Cudkowicz ME, McKenna-Yasek D, Chen C, Hedley-Whyte ET, Brown RH Jr. 1998. Limited corticospinal tract involvement in amyotrophic lateral sclerosis subjects with the A4V mutation in the copper/zinc superoxide dismutase gene. Ann Neurol 43: 703-710.
46. Dejesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Nicholson AM, Finch NA, Flynn H, Adamson J, et al. 2011. Expanded ggggcc hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72: 245-256.
47. Dekker AM, Seelen M, van Doormaal PT, van Rheenen W, Bothof RJ, van Riessen T, Brands WJ, van der Kooi AJ, de Visser M, Voermans NC, et al. 2015. Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers. Neurobiol Aging 39: P220e9-P220e15.
48. Del Bo R, Di Fonzo A, Ghezzi S, Locatelli F, Stevanin G, Costa A, Corti S, Bresolin N, Comi GP. 2007. SPG11: A consistent clinical phenotype in a family with homozygous spatacsin truncating mutation. Neurogenetics 8: 301-305.
49. Dellefave L, Bangash MA, Siddique T. 2003. Pairwise concordance rates are similar in monozygotic twins and dizygotic twins for amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 4: 47.
50. Deng HX, Chen W, Hong ST, Boycott KM, Gorrie GH, Siddique N, Yang Y, Fecto F, Shi Y, Zhai H, et al. 2011. Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature 477: 211-215.
51. Deng M, Wei L, Zuo X, Tian Y, Xie F, Hu P, Zhu C, Yu F, Meng Y, Wang H, et al. 2013. Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis. Nat Genet 45: 697-700
52. Deschauer M, Gaul C, Behrmann C, Prokisch H, Zierz S, Haack TB. 2012. C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis. J Neurol 259: 2434-2439
53. Diekstra FP, Saris CG, van Rheenen W, Franke L, Jansen RC, van Es MA, van Vught PW, Blauw HM, Groen EJ, Horvath S, et al. 2012a. Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS. PLoS ONE 7: e35333.
54. Diekstra FP, van Vught PW, van Rheenen W, Koppers M, Pasterkamp RJ, van Es MA, Schelhaas HJ, de Visser M, Robberecht W, Van Damme P, et al. 2012b. UNC13A is a modifier of survival in amyotrophic lateral sclerosis. Neurobiol Aging 33: 630e3-630e8.
55. Diekstra FP, Van Deerlin VM, van Swieten JC, Al-Chalabi A, Ludolph AC, Weishaupt JH, Hardiman O, Landers JE, Brown Jr. RH, van Es MA, et al. 2014. C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome-wide meta-analysis. Ann Neurol 76: 120-133.
56. Dobson-Stone C, Luty AA, Thompson EM, Blumbergs P, Brooks WS, Short CL, Field CD, Panegyres PK, Hecker J, Solski JA, et al. 2013. Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: Genetic, clinical and neuropathological analysis. Acta Neuropathol 125: 523-533.
57. Droppelmann CA, Wang J, Campos-Melo D, Keller B, Volkening K, Hegele RA, Srong MJ. 2013. Detection of a novel frameshift mutation and regions with homozygosis within ARHGEF28 gene in familial amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener 14: 444-451.
58. Droppelmann CA, Campos-Melo D, Volkening K, Strong MJ. 2014. The emerging role of guanine nucleotide exchange factors in ALS and other neurodegenerative diseases. Front Cell Neurosci 8: 282.
59. Dunckley T, Huentelman MJ, Craig DW, Pearson JV, Szelinger S, Joshipura K, Halperin RF, Stamper C, Jensen KR, Letizia D, et al. 2007. Whole-genome analysis of sporadic amyotrophic lateral sclerosis. New Engl J Med 357: 775-788.
60. Elden AC, Kim HJ, Hart MP, Chen-Plotkin AS, Johnson BS, Fang X, Armakola M, Geser F, Greene R, Lu MM, et al. 2010. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature 466: 1069-1075.
61. Fallis BA, Hardiman O. 2009. Aggregation of neurodegenerative disease in ALS kindreds. Amyotroph Lateral Scler 10: 95-98.
62. Fang F, Kamel F, Lichtenstein P, Bellocco R, Sparen P, Sandler DP, Ye W. 2009. Familial aggregation of amyotrophic lateral sclerosis. Ann Neurology 66: 94-99.
63. Fecto F, Yan J, Vemula SP, Liu E, Yang Y, Chen W, Zheng JG, Shi Y, Siddique N, Arrat H, et al. 2011. SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. Arch Neurol 68: 1440-1446.
64. Figlewicz DA, Krizus A, Martinoli MG, Meininger V, Dib M, Rouleau GA, Julien JP. 1994. Variants of the heavy neuro-filament subunit are associated with the development of amyotrophic lateral sclerosis. Hum Mol Genet 3: 1757-1761.
65. Fink JK. 2013. Hereditary spastic paraplegia: Clinico-pathologic features and emerging molecular mechanisms. Acta Neuropathol 126: 307-328.
66. Flor-de-Lima F, Sampaio M, Nahavandi N, Fernandes S, Leao M. 2014. Alsin related disorders: Literature review and case study with novel mutations. Case Rep Genet 2014: 691515.
67. Fogh I, D’Alfonso S, Gellera C, Ratti A, Cereda C, Penco S, Corrado L, Soraru G, Castellotti B, Tiloca C, et al. 2011. No association of DPP6 with amyotrophic lateral sclerosis in an Italian population. Neurobiol Aging 32: 966-967
68. Fogh I, Ratti A, Gellera C, Lin K, Tiloca C, Moskvina V, Corrado L, Soraru G, Cereda C, Corti S, et al. 2014. A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. Hum Mol Gene 23: 2220-2231.
69. Forman MS, Mackenzie IR, Cairns NJ, Swanson E, Boyer PJ, Drachman DA, Jhaveri BS, Karlawish JH, Pestronk A, Smith TW, et al. 2006. Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations. J Neuropathol Exp Neurol 65: 571-581
70. Forsberg K, Andersen PM, Marklund SL, Brannstrom T. 2011. Glial nuclear aggregates of superoxide dismutase-1 are regularly present in patients with amyotrophic lateral sclerosis. Acta Neuropathol 121: 623-634.
71. Freibaum BD, Lu Y, Lopez-Gonzalez R, Kim NC, Almeida S, Lee KH, Badders N, Valentine M, Miller BL, Wong PC, et al. 2015. GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport. Nature 525: 129-133.
72. Freischmidt A, Wieland T, Richter B, Ruf W, Schaeffer V, Muller K, Marroquin N, Nordin F, Hubers A, Weydt P, et al. 2015. Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia. Nat Neurosci 18: 631-636.
73. Fujita Y, Okamoto K, Fujita S, Ikeda Y. 2014. ELP3-positive inclusions in motor neuron diseases. Eur J Neurol 21: 329
74. Gal J, Strom AL, Kwinter DM, Kilty R, Zhang J, Shi P, Fu W, Wooten MW, Zhu H. 2009. Sequestosome 1/p62 links familial ALS mutant SOD1 to LC3 via an ubiquitin-independent mechanism. J Neurochem 111: 1062-1073
75. Gallego-Iradi MC, Clare AM, Brown HH, Janus C, Lewis J, Borchelt DR. 2015. Subcellular localization of Matrin 3 containing mutations associated with ALS and distal myopathy. PLoS ONE 10: e0142144.
76. Gertz B, Wong M, Martin LJ. 2012. Nuclear localization of human SOD1 and mutant SOD1-specific disruption of survival motor neuron protein complex in transgenic amyotrophic lateral sclerosis mice. J Neuropathol Exp Neurol 71: 162-177.
77. Gijselinck I, Van Langenhove T, van der Zee J, Sleegers K, Philtjens S, Kleinberger G, Janssens J, Bettens K, Van Cauwenberghe C, Pereson S, et al. 2012. A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: A gene identification study. Lancet Neurol 11: 54-65.
78. Gonzalez-Perez P, Lu Y, Chian RJ, Sapp PC, Tanzi RE, Bertram L, McKenna-Yasek D, Gao FB, Brown RH Jr. 2012. Association of UBQLN1 mutation with Brown-VialettoVan Laere syndrome but not typical ALS. Neurobiol Dis 48: 391-398.
79. Graham AJ, Macdonald AM, Hawkes CH. 1997. British motor neuron disease twin study. J Neurol Neurosurg Psychiatry 62: 562-569.
80. Greenway MJ, Andersen PM, Russ C, Ennis S, Cashman S, Donaghy C, Patterson V, Swingler R, Kieran D, Prehn J, et al. 2006. ANG mutations segregate with familial and “sporadic” amyotrophic lateral sclerosis. Nat Genet 38: 411-413.
81. Groen EJ, Fumoto K, Blokhuis AM, Engelen-Lee J, Zhou Y, van den Heuvel DM, Koppers M, van Diggelen F, van Heest J, Demmers JA, et al. 2013. ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN. Hum Mol Genet 22: 3690-3704.
82. Gros-Louis F, Lariviere R, Gowing G, Laurent S, Camu W, Bouchard JP, Meininger V, Rouleau GA, Julien JP. 2004. A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis. J Biol Chem 279: 45951-45956.
83. Gros-Louis F, Andersen PM, Dupre N, Urushitani M, Dion P, Souchon F, D’Amour M, Camu W, Meininger V, Bouchard JP, et al. 2009. Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis. Proc Natl Acad Sci 106: 21777-21782
84. Gurney M. 1994. Mutant mice, Cu,Zn superoxide dismutase, and motor neuron degeneration: Response. Science 266: 1586.
85. Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, et al. 2001. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet 29: 166-173.
86. Hand CK, Khoris J, Salachas F, Gros-Louis F, Lopes AA, Mayeux-Portas V, Brewer CG, Brown JR. RH, Meininger V, Camu W, et al. 2002. A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q. Am J Hum Genet 70: 251-256.
87. Huang EJ, Zhang J, Geser F, Trojanowski JQ, Strober JB, Dickson DW, Brown RH Jr., Shapiro BE, Lomen-Hoerth C. 2010. Extensive FUS-immunoreactive pathology in juvenile amyotrophic lateral sclerosis with basophilic inclusions. Brain Pathol 20: 1069-1076.
88. Huang C, Zhou H, Tong J, Chen H, Liu YJ, Wang D, Wei X, Xia XG. 2011. FUS transgenic rats develop the phenotypes of amyotrophic lateral sclerosis and frontotemporal lobar degeneration. PLoS Genet 7: e1002011.
89. Iida A, Takahashi A, Kubo M, Saito S, Hosono N, Ohnishi Y, Kiyotani K, Mushiroda T, Nakajima M, Ozaki K, et al. 2011. A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese. Hum Mol Genet 20: 3684-3692.
90. Jackson M, Morrison KE, Al-Chalabi A, Bakker M, Leigh PN. 1996. Analysis of chromosome 5q13 genes in amyotrophic lateral sclerosis: Homozygous NAIP deletion in a sporadic case. Ann Neurol 39: 796-800.
91. Janssens J, Van Broeckhoven C. 2013. Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disorders. Hum Mol Genet 22: R77-R87.
92. Jiang J, Zhu Q, Gendron TF, Saberi S, McAlonis-Downes M, Seelman A, Stauffer JE, Jafar-Nejad P, Drenner K, Schulte D, et al. 2016. Gain of toxicity from ALS/FTD-linked repeat expansions in C9ORF72 is alleviated by antisense oligonucleotides targeting GGGGCC-containing RNAs. Neuron 90: 535-550.
93. Johnson JO, Mandrioli J, Benatar M, Abramzon Y, Van Deerlin VM, Trojanowski JQ, Gibbs JR., Brunetti M, Gronka S, Wuu J, et al. 2010. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 68: 857-864.
94. Johnson JO, Gibbs JR., Megarbane A, Urtizberea JA, Hernandez DG, Foley AR, Arepalli S, Pandraud A, Simon-Sanchez J, Clayton P, et al. 2012. Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain 135: 2875-2882.
95. Johnson JO, Glynn SM, Gibbs JR., Nalls MA, Sabatelli M, Restagno G, Drory VE, Chio A, Rogaeva E, Traynor BJ. 2014a. Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis. Brain 137: e311.
96. Johnson JO, Pioro EP, Boehringer A, Chia R, Feit H, Renton AE, Pliner HA, Abramzon Y, Marangi G, Winborn BJ, et al. 2014b. Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nat Neurosci 17: 664-666
97. ovicic A, Mertens J, Boeynaems S, Bogaert E, Chai N, Yamada SB, Paul JW 3rd, Sun S, Herdy JR., Bieri G, et al. 2015. Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS. Nat Neurosci 18: 1226-1229.
98. Julien JP, Beaulieu JM. 2000. Cytoskeletal abnormalities in amyotrophic lateral sclerosis: Beneficial or detrimental effects? J Neurol Sci 180: 7-14.
99. Kaneko K, Saito F, Sunohara N, Ikeuchi T. 1995. Cytogenetic analysis of 23 Japanese patients with amyotrophic lateral sclerosis. Clin Genet 47: 158-160.
100. Kang SH, Li Y, Fukaya M, Lorenzini I, Cleveland DW, Ostrow LW, Rothstein JD, Bergles DE. 2013. Degeneration and impaired regeneration of gray matter oligodendrocytes in amyotrophic lateral sclerosis. Nat Neurosci 16: 571-579
101. Kaplan A, Spiller KJ, Towne C, Kanning KC, Choe GT, Geber A, Akay T, Aebischer P, Henderson CE. 2014. Neuronal matrix metalloproteinase-9 is a determinant of selective neurodegeneration. Neuron 81: 333-348.
102. Kim HJ, Kim NC, Wang YD, Scarborough EA, Moore J, Diaz Z, MacLea KS, Freibaum B, Li S, Molliex A, et al. 2013. Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature 495: 467-473.
103. Kimonis VE, Mehta SG, Fulchiero EC, Thomasova D, Pasquali M, Boycott K, Neilan EG, Kartashov A, Forman MS, Tucker S, et al. 2008. Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia. Am J Med Genet Part A 146A: 745-757.
104. Kwee LC, Liu Y, Haynes C, Gibson JR., Stone A, Schichman SA, Kamel F, Nelson LM, Topol B, Van den Eeden SK, et al. 2012. A high-density genome-wide association screen of sporadic ALS in US veterans. PloS ONE 7: e32768
105. Kwiatkowski TJ Jr., Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, et al. 2009. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 323: 1205-1208.
106. Laaksovirta H, Peuralinna T, Schymick JC, Scholz SW, Lai SL, Myllykangas L, Sulkava R, Jansson L, Hernandez DG, Gibbs JR., et al. 2010. Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: A genome-wide association study. Lancet Neurol 9: 978-985.
107. Landers JE, Melki J, Meininger V, Glass JD, van den Berg LH, van Es MA, Sapp PC, van Vught PW, McKenna-Yasek DM, Blauw HM, et al. 2009. Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. Proc Natl Acad Sci 106: 9004-9009.
108. Lattante S, Rouleau GA, Kabashi E. 2013. TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: Summary and update. Hum Mutat 34: 812-826
109. Le Ber I, Van Bortel I, Nicolas G, Bouya-Ahmed K, Camuzat A, Wallon D, De Septenville A, Latouche M, Lattante S, Kabashi E, et al. 2014. hnRNPA2B1 and hnRNPA1 mutations are rare in patients with “multisystem proteinopathy” and frontotemporal lobar degeneration phenotypes. Neurobiol Aging 35: 934e935-934e936.
110. Leblond CS, Gan-Or Z, Spiegelman D, Laurent SB, Szuto A, Hodgkinson A, Dionne-Laporte A, Provencher P, de Carvalho M, Orru S, et al. 2016. Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis. Neurobiol Aging 37: 209.e17-21.
111. Lee T, Li YR, Ingre C, Weber M, Grehl T, Gredal O, de Carvalho M, Meyer T, Tysnes OB, Auburger G, et al. 2011. Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients. Hum Mol Genet 20: 1697-1700.
112. Li S, Sheng J, Hu JK, Yu W, Kishikawa H, Hu MG, Shima K, Wu D, Xu Z, Xin W, et al. 2013. Ribonuclease 4 protects neuron degeneration by promoting angiogenesis, neurogenesis, and neuronal survival under stress. Angiogenesis 16: 387-404.
113. Ling JP, Pletnikova O, Troncoso JC, Wong PC. 2015. TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD. Science 349: 650-655.
114. Liu Y, Pattamatta A, Zu T, Reid T, Bardhi O, Borchelt DR, Yachnis AT, Ranum LP. 2016. C9orf72 BAC mouse model with motor deficits and neurodegenerative features of ALS/FTD. Neuron 90: 521-534.
115. Lopez-Lopez A, Gamez J, Syriani E, Morales M, Salvado M, Rodriguez MJ, Mahy N, Vidal-Taboada JM. 2014. CX3CR1 is a modifying gene of survival and progression in amyotrophic lateral sclerosis. PLoS ONE 9: e96528
116. Luigetti M, Lattante S, Zollino M, Conte A, Marangi G, Del Grande A, Sabatelli M. 2011. SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant. Neurobiol Aging 32: 1924e15-1924e18.
117. Manole A, Chelban V, Haridy NA, Hamed SA, Berardo A, Reilly MM, Houlden H. 2016. Severe axonal neuropathy is a late manifestation of SPG11. J Neurol 263: 2278-2286.
118. Maruyama H, Morino H, Ito H, Izumi Y, Kato H, Watanabe Y, Kinoshita Y, Kamada M, Nodera H, Suzuki H, et al. 2010. Mutations of optineurin in amyotrophic lateral sclerosis. Nature 465: 223-226.
119. McLaughlin RL, Kenna KP, Vajda A, Heverin M, Byrne S, Donaghy CG, Cronin S, Bradley DG, Hardiman O. 2015. Homozygosity mapping in an Irish ALS case-control cohort describes local demographic phenomena and points towards potential recessive risk loci. Genomics 105: 237-241.
120. Meyer T, Alber B, Roemer K, Martin T, Kalscheuer VM, Gottert E, Zang KD, Ludolph AC, Ropers HH, Prudlo J. 2003. High rate of constitutional chromosomal rearrangements in apparently sporadic ALS. Neurology 60: 1348-1350
121. Millecamps S, De Septenville A, Teyssou E, Daniau M, Camuzat A, Albert M, LeGuern E, Galimberti D, Brice A, Marie Y, et al. 2014. Genetic analysis of matrin 3 gene in French amyotrophic lateral sclerosis patients and frontotemporal lobar degeneration with amyotrophic lateral sclerosis patients. Neurobiol Aging 35: 2882e13-2882e15.
122. Mitchell J, Paul P, Chen HJ, Morris A, Payling M, Falchi M, Habgood J, Panoutsou S, Winkler S, Tisato V, et al. 2010. Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase. Proc Natl Acad Sci 107: 7556-7561.
123. Mizielinska S, Gronke S, Niccoli T, Ridler CE, Clayton EL, Devoy A, Moens T, Norona FE, Woollacott IO, Pietrzyk J, et al. 2014. C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins. Science 345: 1192-1194.
124. Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, et al. 2016. ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. Brain 139: 73-85.
125. Morfini GA, Burns M, Binder LI, Kanaan NM, LaPointe N, Bosco DA, Brown RH Jr., Brown H, Tiwari A, Hayward L, et al. 2009. Axonal transport defects in neurodegenerative diseases. J Neurosci 29: 12776-12786.
126. Moriconi C, Di Angelantonio S, Piccioni A, Trettel F, Sabatelli M, Grassi F. 2011. Mutant human b4 subunit identified in amyotrophic lateral sclerosis patients impairs nicotinic receptor function. Pflugers Arch Eur J Physiol 461: 225-233.
127. Morohoshi F, Ootsuka Y, Arai K, Ichikawa H, Mitani S, Munakata N, Ohki M. 1998. Genomic structure of the human RBP56/hTAFIIv68 and FUS/TLS genes. Gene 221: 191-198.
128. Moulard B, Salachas F, Chassande B, Briolotti V, Meininger V, Malafosse A, Camu W. 1998. Association between centromeric deletions of the SMN gene and sporadic adult-onset lower motor neuron disease. Ann Neurol 43: 640-644.
129. Munch C, Sedlmeier R, Meyer T, Homberg V, Sperfeld AD, Kurt A, Prudlo J, Peraus G, Hanemann CO, Stumm G, et al. 2004. Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. Neurology 63: 724-726.
130. Munch C, Rosenbohm A, Sperfeld AD, Uttner I, Reske S, Krause BJ, Sedlmeier R, Meyer T, Hanemann CO, Stumm G, et al. 2005. Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD. Ann Neurol 58: 777-780.
131. Munoz DG, Neumann M, Kusaka H, Yokota O, Ishihara K, Terada S, Kuroda S, Mackenzie IR. 2009. FUS pathology in basophilic inclusion body disease. Acta Neuropathol 118: 617-627.
132. Nagai M, Aoki M, Miyoshi I, Kato M, Pasinelli P, Kasai N, Brown RH Jr., Itoyama Y. 2001. Rats expressing human cytosolic copper-zinc superoxide dismutase transgenes with amyotrophic lateral sclerosis: Associated mutations develop motor neuron disease. J Neurosci 21: 9246-9254
133. Nalini A, Pandraud A, Mok K, Houlden H. 2013. Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause BrownVialetto-Van Laere syndrome. J Neurol Sci 334: 119-122
134. Neumann M. 2009. Molecular neuropathology of TDP-43 proteinopathies. Intl J Mol Sci 10: 232-246.
135. Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, Chou TT, Bruce J, Schuck T, Grossman M, Clark CM, et al. 2006. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314: 130-133.
136. Nishimura AL, Mitne-Neto M, Silva HC, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JR., Gillingwater T, Webb J, et al. 2004. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet 75: 822-831.
137. Orlacchio A, Babalini C, Borreca A, Patrono C, Massa R, Basaran S, Munhoz RP, Rogaeva EA, St George-Hyslop PH, Bernardi G, et al. 2010. SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis. Brain 133: 591-598.
138. O’Rourke JG, Bogdanik L, Muhammad AK, Gendron TF, Kim KJ, Austin A, Cady J, Liu EY, Zarrow J, Grant S, et al. 2015. C9orf72 BAC transgenic mice display typical pathologic features of ALS/FTD. Neuron 88: 892-901.
139. Orsetti V, Pegoraro E, Cima V, D’Ascenzo C, Palmieri A, Querin G, Volpe M, Ermani M, Angelini C, Soraru G. 2011. Genetic variation in KIFAP3 is associated with an upper motor neuron-predominant phenotype in amyotrophic lateral sclerosis. Neuro-degen Dis 8: 491-495
140. Otomo A, Kunita R, Suzuki-Utsunomiya K, Mizumura H, Onoe K, Osuga H, Hadano S, Ikeda JE. 2008. ALS2/alsin deficiency in neurons leads to mild defects in macropinocytosis and axonal growth. Biochem Biophys Res Commun 370: 87-92.
141. Parkinson N, Ince PG, Smith MO, Highley R, Skibinski G, Andersen PM, Morrison KE, Pall HS, Hardiman O, Collinge J, et al. 2006. ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B). Neurology 67: 1074-1077.
142. Peters OM, Cabrera GT, Tran H, Gendron TF, McKeon JE, Metterville J, Weiss A, Wightman N, Salameh J, Kim J, et al. 2015a. Human C9ORF72 hexanucleotide expansion reproduces RNA foci and dipeptide repeat proteins but not neurodegeneration in BAC transgenic mice. Neuron 88: 902-909.
143. Peters OM, Ghasemi M, Brown RH Jr. 2015b. Emerging mechanisms of molecular pathology in ALS. J Clin Invest 125: 2548.
144. Philips T, Rothstein JD. 2014. Glial cells in amyotrophic lateral sclerosis. Exp Neurol 262: 111-120.
145. Pottier C, Bieniek KF, Finch N, van de Vorst M, Baker M, Perkersen R, Brown P, Ravenscroft T, van Blitterswijk M, Nicholson AM, et al. 2015. Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease. Acta Neuropathol 130: 77-92.
146. Prause J, Goswami A, Katona I, Roos A, Schnizler M, Bushuven E, Dreier A, Buchkremer S, Johann S, Beyer C, et al. 2013. Altered localization, abnormal modification and loss of function of Sigma receptor-1 in amyotrophic lateral sclerosis. Hum Mol Genet 22: 1581-1600.
147. Puls I, Jonnakuty C, LaMonte B, Holzbaur E, Tokito M, Mann E, Floeter M, Bidus K, Drayna D, Oh S, et al. 2003. Mutant dynactin in motor neuron disease. Nat Genet 33: 455-456.
148. Purcell S, Cherny SS, Sham PC. 2003. Genetic Power Calculator: Design of linkage and association genetic mapping studies of complex traits. Bioinformatics 19: 149-150
149. Rainier S, Bui M, Mark E, Thomas D, Tokarz D, Ming L, Delaney C, Richardson RJ, Albers JW, Matsunami N, et al. 2008. Neuropathy target esterase gene mutations cause motor neuron disease. Am J Hum Genet 82: 780-785
150. Rayaprolu S, Mullen B, Baker M, Lynch T, Finger E, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, et al. 2013. TREM2 in neurodegeneration: Evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson’s disease. Mol Neurodegener 8: 19
151. Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR., Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, et al. 2011. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72: 257-268.
152. Richardson RJ, Hein ND, Wijeyesakere SJ, Fink JK, Makhaeva GF. 2013. Neuropathy target esterase (NTE): Overview and future. Chem Biol Interact 203: 238-244
153. Ringholz GM, Appel SH, Bradshaw M, Cooke NA, Mosnik DM, Schulz PE. 2005. Prevalence and patterns of cognitive impairment in sporadic ALS. Neurology 65: 586-590
154. Robberecht W, Philips T. 2013. The changing scene of amyotrophic lateral sclerosis. Nat Rev Neurosci 14: 248-264
155. Ronchi D, Riboldi G, Del Bo R, Ticozzi N, Scarlato M, Galimberti D, Corti S, Silani V, Bresolin N, Comi GP. 2015. CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis. Brain 138: e372
156. Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O’Regan JP, Deng HX, et al. 1993. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362: 59-62.
157. Rowland LP, Shneider NA. 2001. Amyotrophic lateral sclerosis. N Engl J Med 344: 1688-1700.
158. Rubino E, Rainero I, Chio A, Rogaeva E, Galimberti D, Fenoglio P, Grinberg Y, Isaia G, Calvo A, Gentile S, et al. 2012. SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Neurology 79: 1556-1562.
159. Rutherford NJ, Zhang YJ, Baker M, Gass JM, Finch NA, Xu YF, Stewart H, Kelley BJ, Kuntz K, Crook RJP, et al. 2008. Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. PLoS Genet 4: e1000193.
160. Sabatelli M, Eusebi F, Al-Chalabi A, Conte A, Madia F, Luigetti M, Mancuso I, Limatola C, Trettel F, Sobrero F, et al. 2009. Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. Hum Mol Genet 18: 3997-4006.
161. Sabatelli M, Lattante S, Conte A, Marangi G, Luigetti M, Del Grande A, Chio A, Corbo M, Giannini F, Mandrioli J, et al. 2012. Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study. Amyotroph Lateral Scler 13: 580-584.
162. Saeed M, Siddique N, Hung WY, Usacheva E, Liu E, Sufit RL, Heller SL, Haines JL, Pericak-Vance M, Siddique T. 2006. Paraoxonase cluster polymorphisms are associated with sporadic ALS. Neurology 67: 771-776.
163. Sanhueza M, Zechini L, Gillespie T, Pennetta G. 2014. Gainof-function mutations in the ALS8 causative gene VAPB have detrimental effects on neurons and muscles. Biol Open 3: 59-71.
164. Schrott-Fischer A, Bitsche M, Humpel C, Walcher C, Maier H, Jellinger K, Rabl W, Glueckert R, Marksteiner J. 2009. Chromogranin peptides in amyotrophic lateral sclerosis. Regul Pept 152: 13-21.
165. Scott S, Kranz JE, Cole J, Lincecum JM, Thompson K, Kelly N, Bostrom A, Theodoss J, Al-Nakhala BM, Vieira FG, et al. 2008. Design, power, and interpretation of studies in the standard murine model of ALS. Amyotroph Lateral Scler 9: 4-15.
166. Sharma A, Lyashchenko AK, Lu L, Nasrabady SE, Elmaleh M, Mendelsohn M, Nemes A, Tapia JC, Mentis GZ, Shneider NA. 2016. ALS-associated mutant FUS induces selective motor neuron degeneration through toxic gain of function. Nat Commun 7: 10465.
167. Shatunov A, Mok K, Newhouse S, Weale ME, Smith B, Vance C, Johnson L, Veldink JH, van Es MA, van den Berg LH, et al. 2010. Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: A genome-wide association study. Lancet Neurol 9: 986-994.
168. Simpson CL, Lemmens R, Miskiewicz K, Broom WJ, Hansen VK, van Vught PW, Landers JE, Sapp P, Van Den Bosch L, Knight J, et al. 2009. Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration. Hum Mol Genetics 18: 472-481.
169. Slowik A, Tomik B, Wolkow PP, Partyka D, Turaj W, Malecki MT, Pera J, Dziedzic T, Szczudlik A, Figlewicz DA. 2006. Paraoxonase gene polymorphisms and sporadic ALS. Neurology 67: 766-770.
170. Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp S, Kenna KP, Scotter EL, Kost J, Keagle P, Miller JW, et al. 2014. Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS. Neuron 84: 324-331.
171. Song Y, Wang M, Mao F, Shao M, Zhao B, Song Z, Shao C, Gong Y. 2013. Knockdown of Pnpla6 protein results in motor neuron defects in zebrafish. Dis Model Mech 6: 404-413.
172. Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Durnall JC, Williams KL, Buratti E, et al. 2008. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 319: 1668-1672.
173. Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, et al. 2007. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet 39: 366-372
174. Takahashi Y, Fukuda Y, Yoshimura J, Toyoda A, Kurppa K, Moritoyo H, Belzil VV, Dion PA, Higasa K, Doi K, et al. 2013. ERBB4 mutations that disrupt the neuregulinErbB4 pathway cause amyotrophic lateral sclerosis type 19. Am J Hum Genet 93: 900-905.
175. Tateno M, Kato S, Sakurai T, Nukina N, Takahashi R, Araki T. 2009. Mutant SOD1 impairs axonal transport of choline acetyltransferase and acetylcholine release by sequestering KAP3. Hum Mol Genet 18: 942-955.
176. Teyssou E, Vandenberghe N, Moigneu C, Boillee S, Couratier P, Meininger V, Pradat PF, Salachas F, Leguern E, Millecamps S. 2014. Genetic analysis of SS18L1 in French amyotrophic lateral sclerosis. Neurobiol Aging 35: 1213e1219-1213e1212.
177. Thiyagarajan N, Ferguson R, Subramanian V, Acharya KR. 2012. Structural and molecular insights into the mechanism of action of human angiogenin-ALS variants in neurons. Nat Commun 3: 1121.
178. Ticozzi N, Vance C, Leclerc AL, Keagle P, Glass JD, McKenna-Yasek D, Sapp PC, Silani V, Bosco DA, Shaw CE, et al. 2011. Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis. Am J Med Genet B Neuropsychiatr Genet 156B: 285-290.
179. Tran H, Almeida S, Moore J, Gendron TF, Chalasani U, Lu Y, Du X, Nickerson JA, Petrucelli L, Weng Z, et al. 2015. Differential toxicity of nuclear RNA foci versus dipeptide repeat proteins in a Drosophila model of C9ORF72 FTD/ ALS. Neuron 87: 1207-1214.
180. Tsao W, Jeong YH, Lin S, Ling J, Price DL, Chiang PM, Wong PC. 2012. Rodent models of TDP-43: Recent advances. Brain Res 1462: 26-39.
181. Ugwu F, Rollinson S, Harris J, Gerhard A, Richardson A, Jones M, Mann D, Snowden J, Pickering-Brown S. 2014. A UBQLN2 variant of unknown significance in frontotemporal lobar degeneration. Neurobiol Aging 36: 546.e15-546.e16.
182. Uyan O, Omur O, Agim ZS, Ozoguz A, Li H, Parman Y, Deymeer F, Oflazer P, Koc F, Tan E, et al. 2013. Genome-wide copy number variation in sporadic amyotrophic lateral sclerosis in the Turkish population: Deletion of EPHA3 is a possible protective factor. PLoS ONE 8: e72381.
183. van Blitterswijk M, van Es MA, Hennekam EA, Dooijes D, van Rheenen W, Medic J, Bourque PR, Schelhaas HJ, van der Kooi AJ, de Visser M, et al. 2012. Evidence for an oligogenic basis of amyotrophic lateral sclerosis. Human Mol Genet 21: 3776-3784.
184. van Blitterswijk M, DeJesus-Hernandez M, Niemantsverdriet E, Murray ME, Heckman MG, Diehl NN, Brown PH, Baker MC, Finch NA, Bauer PO, et al. 2013. Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): A cross-sectional cohort study. Lancet Neurol 12: 978-988.
185. van Blitterswijk M, Mullen B, Nicholson AM, Bieniek KF, Heckman MG, Baker MC, DeJesus-Hernandez M, Finch NA, Brown PH, Murray ME, et al. 2014. TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia. Acta Neuropathol 127: 397-406.
186. van Es MA, Veldink JH, Saris CG, Blauw HM, van Vught PW, Birve A, Lemmens R, Schelhaas HJ, Groen EJ, Huisman MH, et al. 2009. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet 41: 1083-1087.
187. van Es MA, Schelhaas HJ, van Vught PW, Ticozzi N, Andersen PM, Groen EJ, Schulte C, Blauw HM, Koppers M, Diekstra FP, et al. 2011. Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis. Ann Neurol 70: 964-973.
188. Van Hoecke A, Schoonaert L, Lemmens R, Timmers M, Staats KA, Laird AS, Peeters E, Philips T, Goris A, Dubois B, et al. 2012. EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans. Nat Med 18: 1418-1422.
189. van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, Võsa U, de Jong S, Robinson MR, et al. 2016. Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nat Genet 48: 1043-1048.
190. Vance C, Rogelj B, Hortobagyi T, De Vos KJ, Nishimura AL, Sreedharan J, Hu X, Smith B, Ruddy D, Wright P, et al. 2009. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323: 1208-1211.
191. Varoqueaux F, Sons MS, Plomp JJ, Brose N. 2005. Aberrant morphology and residual transmitter release at the Munc13-deficient mouse neuromuscular synapse. Mol Cell Biol 25: 5973-5984.
192. Veldink JH, Kalmijn S, Van der Hout AH, Lemmink HH, Groeneveld GJ, Lummen C, Scheffer H, Wokke JH, Van den Berg LH. 2005. SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS. Neurology 65: 820-825
193. Vucic S, Rothstein JD, Kiernan MC. 2014. Advances in treating amyotrophic lateral sclerosis: insights from patho-physiological studies. Trends Neurosci 37: 433-442
194. Watanabe M, Dykes-Hoberg M, Culotta VC, Price DL, Wong PC, Rothstein JD. 2001. Histological evidence of protein aggregation in mutant SOD1 transgenic mice and in amyotrophic lateral sclerosis neural tissues. Neurobiol Dis 8: 933-941.
195. Watts GD, Thomasova D, Ramdeen SK, Fulchiero EC, Mehta SG, Drachman DA, Weihl CC, Jamrozik Z, Kwiecinski H, Kaminska A, et al. 2007. Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia. Clin Genet 72: 420-426.
196. Wills AM, Cronin S, Slowik A, Kasperaviciute D, Van Es MA, Morahan JM, Valdmanis PN, Meininger V, Melki J, Shaw CE, et al. 2009. A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS. Neurology 73: 16-24.
197. Wu CH, Fallini C, Ticozzi N, Keagle PJ, Sapp PC, Piotrowska K, Lowe P, Koppers M, McKenna-Yasek D, Baron DM, et al. 2012. Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. Nature 488: 499-503.
198. Yang Y, Hentati A, Deng HX, Dabbagh O, Sasaki T, Hirano M, Hung WY, Ouahchi K, Yan J, Azim AC, et al. 2001. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet 29: 160-165.
199. Yang C, Danielson EW, Qiao T, Metterville J, Brown RH, Landers JE, Xu Z. 2016. Mutant PFN1 causes ALS phenotypes and progressive motor neuron degeneration in mice by a gain of toxicity. Proc Natl Acad Sci 113: E6209-E6218.
200. Zhang Y, Zolov SN, Chow CY, Slutsky SG, Richardson SC, Piper RC, Yang B, Nau JJ, Westrick RJ, Morrison SJ, et al. 2007. Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice. Proc Natl Acad Sci 104: 17518-17523.
201. Zhang K, Donnelly CJ, Haeusler AR, Grima JC, Machamer JB, Steinwald P, Daley EL, Miller SJ, Cunningham KM, Vidensky S, et al. 2015. The C9orf72 repeat expansion disrupts nucleocytoplasmic transport. Nature 525: 56-61.
202. Zinman L, Liu HN, Sato C, Wakutani Y, Marvelle AF, Moreno D, Morrison KE, Mohlke KL, Bilbao J, Robertson J, et al. 2009. A mechanism for low penetrance in an ALS family with a novel SOD1 deletion. Neurology 72: 1153-1159.
203. Zu T, Liu Y, Banez-Coronel M, Reid T, Pletnikova O, Lewis J, Miller TM, Harms MB, Falchook AE, Subramony SH, et al. 2013. RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia. Proc Natl Acad Sci 110: E4968-E4977