Clinical implications of recent breakthroughs in amyotrophic lateral sclerosis

Current Opinion in Neurology

Volumn 26, Issue 5, 2013, Pages 466-472

  Van Damme, Philip ^a   Robberecht, Wim ^a  

^a Vesalius Research Center   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ANGIOGENIN; ANTISENSE OLIGONUCLEOTIDE; ARIMOCLOMOL; ATAXIN 2; BRAIN DERIVED NEUROTROPHIC FACTOR; COPPER ZINC SUPEROXIDE DISMUTASE; DEXTRO AMINO ACID OXIDASE; FUSED IN SARCOMA PROTEIN; MUTANT PROTEIN; NUCLEIC ACID BINDING PROTEIN; OPTINEURIN; PROFILIN; PROFILIN I; PROGRANULIN; SENATAXIN; SYNAPTOBREVIN; TAR DNA BINDING PROTEIN; UBIQUILIN 2 PROTEIN; UNCLASSIFIED DRUG; VALOSIN CONTAINING PROTEIN; VASCULOTROPIN;

AMYOTROPHIC LATERAL SCLEROSIS; ANTISENSE THERAPY; CHROMOSOME 9; CLINICAL TRIAL (TOPIC); DRUG SAFETY; DRUG TOLERABILITY; FAMILY HISTORY; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; HUMAN; NEUROPATHOLOGY; ONSET AGE; OPEN READING FRAME; PHENOTYPE; REVIEW; SURVIVAL;

AMYOTROPHIC LATERAL SCLEROSIS; ANIMALS; FRONTOTEMPORAL LOBAR DEGENERATION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MOTOR NEURONS; MUTATION;

EID: 84883830243     PISSN: 13507540     EISSN: 14736551     Source Type: Journal    
DOI: 10.1097/WCO.0b013e328364c063     Document Type: Review

References (63)

1. Rosen DR, Siddique T, Patterson D, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993; 362:59-62.
2. Sreedharan J, Blair IP, Tripathi VB, et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 2008; 319:1668-1672.
3. Kabashi E, Valdmanis PN, Dion P, et al. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet 2008; 40:572-574.
4. Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 2009; 323:1205-1208.
5. Vance C, Rogelj B, Hortobagyi T, et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 2009; 323:1208-1211.
6. DeJesus-Hernandez M, Mackenzie IR, Boeve BF, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011; 72:245-256.
7. Renton AE, Majounie E, Waite A, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011; 72:257-268.
8. Brooks BR, Miller RG, Swash M, Munsat TL. El Escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 2000; 1:293-299.
9. de Carvalho M, Dengler R, Eisen A, et al. Electrodiagnostic criteria for diagnosis of ALS. Clin Neurophysiol 2008; 119:497-503.
10. Schrooten M, Smetcoren C, Robberecht W, Van Damme P. Benefit of the Awaji diagnostic algorithm for amyotrophic lateral sclerosis A prospective study. Ann Neurol 2011; 70:79-83.
11. Chio A, Calvo A, Moglia C, et al. Phenotypic heterogeneity of amyotrophic lateral sclerosis a population based study. J Neurol Neurosurg Psychiatry 2011; 82:740-746.
12. Al-Chalabi A, Jones A, Troakes C, et al. The genetics and neuropathology of amyotrophic lateral sclerosis. Acta Neuropathol 2012; 124:339-352.
13. Sieben A, Van Langenhove T, Engelborghs S, et al. The genetics and neuropathology of frontotemporal lobar degeneration. Acta Neuropathol 2012; 124:353-372.
14. Rademakers R, Neumann M, Mackenzie IR. Advances in understanding the molecular basis of frontotemporal dementia. Nat Rev Neurol 2012; 8:423-434.
15. van Langenhove T, van der Zee J, van Broeckhoven C. The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum. Ann Med 2012. [Epub ahead of print]
16. Robberecht W, Philips T. The changing scene of amyotrophic lateral sclerosis. Nat Rev Neurosci 2013; 14:248-264.
17. Rutherford NJ, Zhang YJ, Baker M, et al. Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. PLoS Genet 2008; 4:e1000193.
18. Hadano S, Hand CK, Osuga H, et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet 2001; 29:166-173.
19. Yang Y, Hentati A, Deng HX, et al. 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 2001; 29:160-165.
20. Greenway MJ, Andersen PM, Russ C, et al. ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis. Nat Genet 2006; 38:411-413.
21. Elden AC, Kim HJ, Hart MP, et al. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature 2010; 466:1069-1075.
22. Van Damme P, Veldink JH, van Blitterswijk M, et al. Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2.
23. Mitchell J, Paul P, Chen HJ, et al. Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase. Proc Natl Acad Sci U S A 2010; 107:7556-7561.
24. Maruyama H, Morino H, Ito H, et al. Mutations of optineurin in amyotrophic lateral sclerosis. Nature 2010; 465:223-226.
25. Benussi L, Ghidoni R, Pegoiani E, et al. Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide. Neurobiol Dis 2009; 33:379-385.
26. WuCH, Fallini C, Ticozzi N, et al. Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. Nature 2012; 488:499-503.
27. Chen YZ, Bennett CL, Huynh HM, et al. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet 2004; 74:1128-1135.
28. Deng HX, Chen W, Hong ST, et al. Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature 2011; 477:211-215.
29. Nishimura AL, Mitne-Neto M, Silva HC, et al. A mutation in the vesicletrafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet 2004; 75:822-831.
30. Johnson JO, Mandrioli J, Benatar M, et al. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 2010; 68:857-864.
31. Kim HJ, Kim NC, Wang YD, et al. Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature 2013; 495:467-473.
32. Gijselinck I, Van Langenhove T, van der Zee J, et al. 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 2012; 11:54-65.
33. Majounie E, Renton AE, Mok K, et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study. Lancet Neurol 2012; 11:323-330.
34. van Rheenen W, van Blitterswijk M, Huisman MH, et al. Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases. Neurology 2012; 79:878-882.
35. Chio A, Borghero G, Restagno G, et al. Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. Brain 2012; 135:784-793.
36. Byrne S, Elamin M, Bede P, et al. Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: A population-based cohort study. Lancet Neurol 2012; 11:232-240.
37. Cooper-Knock J, Hewitt C, Highley JR, et al. Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain 2012; 135:751-764.
38. Polymenidou M, Lagier-Tourenne C, Hutt KR, et al. Long premRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43.
39. Lagier-Tourenne C, Polymenidou M, Hutt KR, et al. Divergent roles of ALSlinked proteins FUS/TLS and TDP-43 intersect in processing long premRNAs. Nat Neurosci 2012; 15:1488-1497.
40. Mori K, Weng SM, Arzberger T, et al. The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science 2013; 339:1335-1338.
41. Ash PE, Bieniek KF, Gendron TF, et al. Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron 2013; 77:639-646.
42. Neary D, Snowden J, Mann D. Frontotemporal dementia. Lancet Neurol 2005; 4:771-780.
43. Lomen-Hoerth C, Murphy J, Langmore S, et al. Are amyotrophic lateral sclerosis patients cognitively normal?. Neurology 2003; 60:1094-1097.
44. Lipton AM, White CL 3rd, Bigio EH. Frontotemporal lobar degeneration with motor neuron disease-type inclusions predominates in 76 cases of frontotemporal degeneration. Acta Neuropathol (Berl) 2004; 108:379-385.
45. Lomen-Hoerth C. Characterization of amyotrophic lateral sclerosis and frontotemporal dementia. Dement Geriatr Cogn Disord 2004; 17:337-341.
46. Neumann M, Sampathu DM, Kwong LK, et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006; 314:130-133.
47. Shibata N, Hirano A, Kobayashi M, et al. Intense superoxide dismutase-1 immunoreactivity in intracytoplasmic hyaline inclusions of familial amyotrophic lateral sclerosis with posterior column involvement. J Neuropathol Exp Neurol 1996; 55:481-490.
48. Mackenzie IR, Bigio EH, Ince PG, et al. Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. Ann Neurol 2007; 61:427-434.
49. Benajiba L, Le Ber I, Camuzat A, et al. TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. Ann Neurol 2009; 65:470-473.
50. Cannon A, Fujioka S, Rutherford NJ, et al. Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosis. Neurology 2013; 80:1771-1777.
51. van Blitterswijk M, DeJesus-Hernandez M, Rademakers R. How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: Can we learn from other noncoding repeat expansion disorders?. Curr Opin Neurol 2012; 25:689-700.
52. Smith BN, Newhouse S, Shatunov A, et al. The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. Eur J Hum Genet 2013; 21:102-108.
53. Chio A, Calvo A, Mazzini L, et al. Extensive genetics of ALS: A populationbased study in Italy. Neurology 2012; 79:1983-1989.
54. Regal L, Vanopdenbosch L, Tilkin P, et al. The G93C mutation in superoxide dismutase 1: Clinicopathologic phenotype and prognosis. Arch Neurol 2006; 63:262-267.
55. Snowden JS, Rollinson S, Thompson JC, et al. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain 2012; 135:693-708.
56. Cudkowicz M, Bozik ME, Ingersoll EW, et al. The effects of dexpramipexole (KNS-760704) in individuals with amyotrophic lateral sclerosis. Nat Med 2011; 17:1652-1656.
57. Miller TM, Pestronk A, David W, et al. An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: A phase 1, randomised, first-in-man study. Lancet Neurol 2013; 12:435-442.
58. Ochs G, Penn RD, York M, et al. A phase I/II trial of recombinant methionyl human brain derived neurotrophic factor administered by intrathecal infusion to patients with amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 2000; 1:201-206.
59. Storkebaum E, Lambrechts D, Dewerchin M, et al. Treatment of motoneuron degeneration by intracerebroventricular delivery of VEGF in a rat model of ALS. Nat Neurosci 2005; 8:85-92.
60. Ilieva H, Polymenidou M, Cleveland DW. Noncell autonomous toxicity in neurodegenerative disorders: ALS and beyond. J Cell Biol 2009; 187: 761-772.
61. Lee Y, Morrison BM, Li Y, et al. Oligodendroglia metabolically support axons and contribute to neurodegeneration. Nature 2012; 487:443-448. 482.
62. Kang SH, Li Y, Fukaya M, et al. Degeneration and impaired regeneration of gray matter oligodendrocytes in amyotrophic lateral sclerosis. Nat Neurosci 2013; 16:571-579.
63. Van Hoecke A, Schoonaert L, Lemmens R, et al. EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans. Nat Med 2012; 18:1418-1422.