The genetics and neuropathology of amyotrophic lateral sclerosis (original) (raw)
Al-Chalabi A, Andersen PM, Nilsson P et al (1999) Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis. Hum Mol Genet 8:157–164. doi:10.1093/hmg/8.2.157 ArticlePubMedCAS Google Scholar
Al-Chalabi A, Fang F, Hanby MF et al (2010) An estimate of amyotrophic lateral sclerosis heritability using twin data. J Neurol Neurosurg Psychiatry 81:1324–1326. doi:10.1136/jnnp.2010.207464 ArticlePubMedCAS Google Scholar
Al-Chalabi A, Lewis CM (2011) Modelling the effects of penetrance and family size on rates of sporadic and familial disease. Hum Hered 71:281–288. doi:10.1159/000330167 ArticlePubMed Google Scholar
Al-Saif A, Al-Mohanna F, Bohlega S (2011) A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis. Ann Neurol 70:913–919. doi:10.1002/ana.22534 ArticlePubMedCAS Google Scholar
Al-Sarraj S, King A, Troakes C et al (2011) p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS. Acta Neuropathol 122:691–702. doi:10.1007/s00401-011-0911-2 ArticlePubMedCAS Google Scholar
Andersen PM, Nilsson P, Ala-Hurula V et al (1995) Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. Nat Genet 10:61–66. doi:10.1038/ng0595-61 ArticlePubMedCAS Google Scholar
Boxer AL, Mackenzie IR, Boeve BF et al (2009) Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. J Neurol Neurosurg Psychiatry. doi:10.1136/jnnp.2009.204081
Boxer AL, Mackenzie IR, Boeve BF et al (2011) Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. J Neurol Neurosurg Psychiatr. doi:10.1136/jnnp.2009.204081 PubMed Google Scholar
Brotherton T, Polak M, Kelly C et al (2011) A novel ALS SOD1 C6S mutation with implications for aggregation related toxicity and genetic counseling. Amyotroph Later Scler Off Publ World Fed Neurol Res Group Motor Neuron Dis 12:215–219. doi:10.3109/17482968.2010.531279 CAS Google Scholar
Byrne S, Bede P, Elamin M et al (2011) Proposed criteria for familial amyotrophic lateral sclerosis. Amyotroph Later Scler Off Publ World Fed Neurol Res Group Motor Neuron Dis 12:157–159. doi:10.3109/17482968.2010.545420 Google Scholar
Byrne S, Walsh C, Lynch C et al (2011) Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatr 82:623–627. doi:10.1136/jnnp.2010.224501 ArticlePubMed Google Scholar
Byrne S, Elamin M, Bede P et al (2012) Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study. Lancet Neurol. doi:10.1016/S1474-4422(12)70014-5
Chen Y, Bennett C, Huynh H et al (2004) DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet 74:1128–1135 ArticlePubMedCAS Google Scholar
Chen Y, Huang R, Yang Y et al (2011) Ataxin-2 intermediate-length polyglutamine: a possible risk factor for Chinese patients with amyotrophic lateral sclerosis. Neurobiol Aging 32(1925):e1921–e1925. doi:10.1016/j.neurobiolaging.2011.05.015 Google Scholar
Chow CY, Landers JE, Bergren SK et al (2009) Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. Am J Hum Genet 84:85–88 ArticlePubMedCAS Google Scholar
Corrado L, Carlomagno Y, Falasco L et al (2011) A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient. Neurobiol Aging 32:552.e551–552.e556. doi:10.1016/j.neurobiolaging.2010.02.011
Couthouis J, Hart MP, Erion R et al (2012) Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis. Hum Mol Genet 21:2899–2911. doi:10.1093/hmg/dds116 ArticlePubMedCAS Google Scholar
Crow JP, Sampson JB, Zhuang Y, Thompson JA, Beckman JS (1997) Decreased zinc affinity of amyotrophic lateral sclerosis-associated superoxide dismutase mutants leads to enhanced catalysis of tyrosine nitration by peroxynitrite. J Neurochem 69:1936–1944. doi:10.1046/j.1471-4159.1997.69051936.x ArticlePubMedCAS Google Scholar
Daoud H, Belzil V, Martins S et al (2011) Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis. Arch Neurol 68:739–742. doi:10.1001/archneurol.2011.111 ArticlePubMed Google Scholar
DeJesus-Hernandez M, Desaro P, Johnston A et al (2011) Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS. Neurology 77:1102–1103. doi:10.1212/WNL.0b013e31822e563c ArticlePubMedCAS Google Scholar
DeJesus-Hernandez M, Mackenzie IR, Boeve BF et al (2011) Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72:245–256. doi:10.1016/j.neuron.2011.09.011 ArticlePubMedCAS Google Scholar
Deng HX, Zhai H, Bigio EH et al (2010) FUS-immunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosis. Ann Neurol 67:739–748. doi:10.1002/ana.22051 ArticlePubMedCAS Google Scholar
Deng HX, Chen W, Hong ST et al (2011) Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature 477:211–215. doi:10.1038/nature10353 ArticlePubMedCAS Google Scholar
Devon RS, Helm JR, Rouleau GA et al (2003) The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings. Clin Genet 64:210–215 ArticlePubMedCAS Google Scholar
Diekstra FP, van Vught PW, van Rheenen W et al (2012) UNC13A is a modifier of survival in amyotrophic lateral sclerosis. Neurobiol Aging 33(630):e633–e638. doi:10.1016/j.neurobiolaging.2011.10.029 Google Scholar
Eymard-Pierre E, Lesca G, Dollet S et al (2002) Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am J Hum Genet 71:518–527. doi:10.1086/342359 ArticlePubMedCAS Google Scholar
Fecto F, Siddique T (2012) UBQLN2/P62 cellular recycling pathways in amyotrophic lateral sclerosis and frontotemporal dementia. Muscle Nerve 45:157–162. doi:10.1002/mus.23278 ArticlePubMedCAS Google Scholar
Figlewicz DA, Krizus A, Martinoli MG et al (1994) Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. Hum Mol Genet 3:1757–1761 ArticlePubMedCAS Google Scholar
Garcia ML, Singleton AB, Hernandez D et al (2006) Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis. Neurobiol Dis 21:102–109. doi:10.1016/j.nbd.2005.06.016 ArticlePubMedCAS Google Scholar
Gijselinck I, Van Langenhove T, van der Zee J 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. doi:10.1016/S1474-4422(11)70261-7 ArticlePubMedCAS Google Scholar
Gispert S, Kurz A, Waibel S et al (2012) The modulation of amyotrophic lateral sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect. Neurobiol Dis 45:356–361. doi:10.1016/j.nbd.2011.08.021 ArticlePubMedCAS Google Scholar
Greenway MJ, Andersen PM, Russ C et al (2006) ANG mutations segregate with familial and ‘sporadic’ amyotrophic lateral sclerosis. Nat Genet 38:411–413. doi:10.1038/ng1742 ArticlePubMedCAS Google Scholar
Gros-Louis F, Larivière R, Gowing G et al (2004) A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis. J Biol Chem 279:45951–45956. doi:10.1074/jbc.M408139200 ArticlePubMedCAS Google Scholar
Gunnarsson LG, Dahlbom K, Strandman E (1991) Motor neuron disease and dementia reported among 13 members of a single family. Acta Neurol Scand 84:429–433 ArticlePubMedCAS Google Scholar
Hadano S, Hand C, Osuga H et al (2001) A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet 29:166–173 ArticlePubMedCAS Google Scholar
Hanby MF, Scott KM, Scotton W et al (2011) The risk to relatives of patients with sporadic amyotrophic lateral sclerosis. Brain J Neurol 134:3454–3457. doi:10.1093/brain/awr248 Article Google Scholar
Hayward C, Colville S, Swingler RJ, Brock DJ (1999) Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis. Neurology 52:1899–1901 ArticlePubMedCAS Google Scholar
Higgins CMJ, Jung C, Ding H, Xu Z (2002) Mutant Cu, Zn Superoxide dismutase that causes motoneuron degeneration is present in mitochondria in the CNS. J Neurosci 22:RC215 Google Scholar
Hortobagyi T, Troakes C, Nishimura AL et al (2011) Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders. Acta Neuropathol 121:519–527. doi:10.1007/s00401-011-0813-3 ArticlePubMedCAS Google Scholar
Johnson JO, Mandrioli J, Benatar M et al (2010) Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 68:857–864 ArticlePubMedCAS Google Scholar
Johnston CA, Stanton BR, Turner MR et al (2006) Amyotrophic lateral sclerosis in an urban setting: a population based study of inner city London. J Neurol 253:1642–1643. doi:10.1007/s00415-006-0195-y ArticlePubMed Google Scholar
King A, Maekawa S, Bodi I, Troakes C, Al-Sarraj S (2011) Ubiquitinated, p62 immunopositive cerebellar cortical neuronal inclusions are evident across the spectrum of TDP-43 proteinopathies but are only rarely additionally immunopositive for phosphorylation-dependent TDP-43. Neuropathol Off J Jpn Soc Neuropathol 31:239–249. doi:10.1111/j.1440-1789.2010.01171.x Article Google Scholar
Koppers M, van Blitterswijk MM, Vlam L et al (2011) VCP mutations in familial and sporadic amyotrophic lateral sclerosis. Neurobiol Aging. doi:10.1016/j.neurobiolaging.2011.10.006
Kwiatkowski TJ Jr, Bosco DA, LeClerc AL et al (2009) Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 323:1205–1208. doi:10.1126/science.1166066 ArticlePubMedCAS Google Scholar
Lambrechts D, Storkebaum E, Morimoto M et al (2003) VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death. Nat Genet 34:383–394. doi:10.1038/ng1211ng1211 ArticlePubMedCAS Google Scholar
Landers JE, Melki J, Meininger V et al (2009) Reduced expression of the kinesin-associated protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. Proc Natl Acad Sci USA 106:9004–9009. doi:10.1073/pnas.0812937106 ArticlePubMedCAS Google Scholar
Lansbury PT, Lashuel HA (2006) A century-old debate on protein aggregation and neurodegeneration enters the clinic. Nature 443:774–779 ArticlePubMedCAS Google Scholar
Leigh P, Whitwell H, Garofalo O et al (1991) Ubiquitin-immunoreactive intraneuronal inclusions in amyotrophic lateral sclerosis. Morphology, distribution, and specificity. Brain J Neurol 114:775–788 Article Google Scholar
Leigh PN, Dodson A, Swash M, Brion JP, Anderton BH (1989) Cytoskeletal abnormalities in motor neuron disease. An immunocytochemical study. Brain J Neurol 112(Pt 2):521–535 Google Scholar
Lesca G, Eymard-Pierre E, Santorelli FM et al (2003) Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families. Neurology 60:674–682 ArticlePubMedCAS Google Scholar
Ligon LA, LaMonte BH, Wallace KE, Weber N, Kalb RG, Holzbaur ELFCA (2005) Mutant superoxide dismutase disrupts cytoplasmic dynein in motor neurons. NeuroReport 16:533–536 ArticlePubMedCAS Google Scholar
Lill CM, Abel O, Bertram L, Al-Chalabi A (2011) Keeping up with genetic discoveries in amyotrophic lateral sclerosis: the ALSoD and ALSGene databases. Amyotroph Later Scler Off Publ World Feder Neurol Res Group Motor Neuron Dis 12:238–249. doi:10.3109/17482968.2011.584629 Google Scholar
Mackenzie I, Bigio E, Ince P et al (2007) Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. Ann Neurol 61:427–434 ArticlePubMedCAS Google Scholar
Martinaud O, Laquerrière A, Guyant-Maréchal L et al (2005) Frontotemporal dementia, motor neuron disease and tauopathy: clinical and neuropathological study in a family. Acta Neuropathol 110:84–92. doi:10.1007/s00401-005-1028-2 ArticlePubMedCAS Google Scholar
Mitchell J, Paul P, Chen H-J et al (2010) Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase. Proc Nat Acad Sci USA 107:7556–7561. doi:10.1073/pnas.0914128107 ArticlePubMedCAS Google Scholar
Murray ME, DeJesus-Hernandez M, Rutherford NJ et al (2011) Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neuropathol 122:673–690. doi:10.1007/s00401-011-0907-y ArticlePubMedCAS Google Scholar
Neumann M, Sampathu DM, Kwong LK et al (2006) Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314:130–133. doi:10.1126/science.1134108 ArticlePubMedCAS Google Scholar
Neumann M, Rademakers R, Roeber S, Baker M, Kretzschmar HA, Mackenzie IRA (2009) A new subtype of frontotemporal lobar degeneration with FUS pathology. Brain J Neurol 132:2922–2931. doi:10.1093/brain/awp214 Article Google Scholar
Neumann M, Bentmann E, Dormann D et al (2011) FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations. Brain J Neurol 134:2595–2609. doi:10.1093/brain/awr201 Article Google Scholar
Nishimura AL, Mitne-Neto M, Silva HC 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. doi:10.1086/425287S0002-9297(07)63787-2 ArticlePubMedCAS Google Scholar
Nishimura AL, Al-Chalabi A, Zatz M (2005) A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population. Hum Genet 118:499–500. doi:10.1007/s00439-005-0031-y ArticlePubMed Google Scholar
Niwa J-I, Yamada S-I, Ishigaki S et al (2007) Disulfide bond mediates aggregation, toxicity, and ubiquitylation of familial amyotrophic lateral sclerosis-linked mutant SOD1. J Biol Chem 282:28087–28095. doi:10.1074/jbc.M704465200 ArticlePubMedCAS Google Scholar
Orlacchio A, Babalini C, Borreca A et al (2010) SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis. Brain J Neurol 133:591–598. doi:10.1093/brain/awp325 Article Google Scholar
Orsetti V, Pegoraro E, Cima V et al (2011) Genetic variation in KIFAP3 is associated with an upper motor neuron-predominant phenotype in amyotrophic lateral sclerosis. Neurodegener Dis 8:491–495. doi:10.1159/000327755 ArticlePubMedCAS Google Scholar
Osawa T, Mizuno Y, Fujita Y, Takatama M, Nakazato Y, Okamoto K (2011) Optineurin in neurodegenerative diseases. Neuropathol Off J Jpn Soc Neuropathol 31:569–574. doi:10.1111/j.1440-1789.2011.01199.x Article Google Scholar
Page T, Gitcho M, Mosaheb S et al (2011) FUS immunogold labeling TEM analysis of the neuronal cytoplasmic inclusions of neuronal intermediate filament inclusion disease: a frontotemporal lobar degeneration with FUS proteinopathy. J Mol Neurosci 45:409–421. doi:10.1007/s12031-011-9549-8 ArticlePubMedCAS Google Scholar
Pearson JP, Williams NM, Majounie E et al (2011) Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. J Neurol 258:647–655. doi:10.1007/s00415-010-5815-x ArticlePubMed Google Scholar
Praline J, Blasco H, Vourc’h P et al (2012) Study of the HFE gene common polymorphisms in French patients with sporadic amyotrophic lateral sclerosis. J Neurol Sci 317:58–61. doi:10.1016/j.jns.2012.02.029 ArticlePubMedCAS Google Scholar
Puls I, Jonnakuty C, LaMonte B et al (2003) Mutant dynactin in motor neuron disease. Nat Genet 33:455–456 ArticlePubMedCAS Google Scholar
Rooke K, Figlewicz DA, Han FY, Rouleau GA (1996) Analysis of the KSP repeat of the neurofilament heavy subunit in familiar amyotrophic lateral sclerosis. Neurology 46:789–790 ArticlePubMedCAS Google Scholar
Rosen DR, Siddique T, Patterson D et al (1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362:59–62. doi:10.1038/362059a0 ArticlePubMedCAS Google Scholar
Rouleau GA, Clark AW, Rooke K et al (1996) SOD1 mutation is assosiated with accumulation of neurofilaments in amyotrophic lateral scelaries. Ann Neurol 39:128–131. doi:10.1002/ana.410390119 ArticlePubMedCAS Google Scholar
Shatunov A, Mok K, Newhouse S 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. doi:10.1016/S1474-4422(10)70197-6 ArticlePubMedCAS Google Scholar
Shibata N, Hirano A, Kobayashi M et al (1996) Intense superoxide dismutase-1 immunoreactivity in intracytoplasmic hyaline inclusions of familial amyotrophic lateral sclerosis with posterior column involvement. J Neuropathol Exp Neurol 55:481–490 ArticlePubMedCAS Google Scholar
Simpson CL, Lemmens R, Miskiewicz K et al (2009) Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration. Hum Mol Genet 18:472–481. doi:10.1093/hmg/ddn375 ArticlePubMedCAS Google Scholar
Spreux-Varoquaux O, Gilbert B, Lucette L et al (2002) Glutamate levels in cerebrospinal fluid in amyotrophic lateral sclerosis: a reappraisal using a new HPLC method with coulometric detection in a large cohort of patients. J Neurol Sci 193:73–78 ArticlePubMedCAS Google Scholar
Sutedja NA, Sinke RJ, Van Vught PW et al (2007) The association between H63D mutations in HFE and amyotrophic lateral sclerosis in a Dutch population. Arch Neurol 64:63–67. doi:10.1001/archneur.64.1.63 ArticlePubMed Google Scholar
Tan CF, Eguchi H, Tagawa A et al (2007) TDP-43 immunoreactivity in neuronal inclusions in familial amyotrophic lateral sclerosis with or without SOD1 gene mutation. Acta Neuropathol 113:535–542. doi:10.1007/s00401-007-0206-9 ArticlePubMedCAS Google Scholar
Ticozzi N, Vance C, LeClerc AL et al (2011) Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis. Am J Med Genet Part B Neuropsychiat Genet 156:285–290. doi:10.1002/ajmg.b.31158 ArticleCAS Google Scholar
Tiloca C, Ratti A, Pensato V et al (2012) Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis. Neurobiol Aging 33(630):e631–e632. doi:10.1016/j.neurobiolaging.2011.10.025 Google Scholar
Tomkins J, Usher P, Slade JY et al (1998) Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS). NeuroReport 9:3967–3970 ArticlePubMedCAS Google Scholar
Traynor BJ, Nalls M, Lai SL et al (2010) Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients. Proc Natl Acad Sci USA 107:12335–12338. doi:10.1073/pnas.0914079107 ArticlePubMedCAS Google Scholar
Troakes C, Maekawa S, Wijesekera L et al (2011) An MND/ALS phenotype associated with C9orf72 repeat expansion: Abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline. Neuropathol Offl J Jpn Soc Neuropathol. doi:10.1111/j.1440-1789.2011.01286.x Google Scholar
Valdmanis PNB, Rouleau GAMDP (2008) Genetics of familial amyotrophic lateral sclerosis. Neurology 70:144–152 ArticlePubMed Google Scholar
Van Deerlin VM, Leverenz JB, Bekris LM et al (2008) TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. Lancet Neurol 7:409–416. doi:10.1016/s1474-4422(08)70071-1 ArticlePubMedCAS Google Scholar
Van Deerlin VM, Sleiman PM, Martinez-Lage M et al (2010) Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet 42:234–239. doi:10.1038/ng.536 ArticlePubMedCAS Google Scholar
van Es MA, Veldink JH, Saris CG 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. doi:10.1038/ng.442 ArticlePubMedCAS Google Scholar
van Es MA, Schelhaas HJ, van Vught PW et al (2011) Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis. Ann Neurol 70:964–973. doi:10.1002/ana.22611 ArticlePubMedCAS Google Scholar
Van Langenhove T, van der Zee J, Engelborghs S et al (2011) Ataxin-2 polyQ expansions in FTLD-ALS spectrum disorders in Flanders-Belgian cohorts. Neurobiol Aging. doi:10.1016/j.neurobiolaging.2011.09.025
Vance C, Al-Chalabi A, Ruddy D et al (2006) Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. Brain J Neurol 129:868–876. doi:10.1093/brain/awl030 Article Google Scholar
Vance C, Rogelj B, Hortobagyi T et al (2009) Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323:1208–1211. doi:10.1126/science.1165942 ArticlePubMedCAS Google Scholar
Wang XS, Lee S, Simmons Z et al (2004) Increased incidence of the Hfe mutation in amyotrophic lateral sclerosis and related cellular consequences. J Neurol Sci 227:27–33. doi:10.1016/j.jns.2004.08.003 ArticlePubMedCAS Google Scholar
Wiedau-Pazos M, Goto JJ, Rabizadeh S et al (1996) Altered reactivity of superoxide dismutase in familial amyotrophic lateral sclerosis. Science 271:515–518 ArticlePubMedCAS Google Scholar
Williams KL, Solski JA, Nicholson GA, Blair IP (2011) Mutation analysis of VCP in familial and sporadic amyotrophic lateral sclerosis. Neurobiol Aging. doi:10.1016/j.neurobiolaging.2011.11.022
Williams KL, Warraich ST, Yang S et al (2012) UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis. Neurobiol Aging. doi:10.1016/j.neurobiolaging.2012.05.008
Yang Y, Hentati A, Deng HX 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. doi:10.1038/ng1001-160 ArticlePubMedCAS Google Scholar
Yen AA, Simpson EP, Henkel JS, Beers DR, Appel SH (2004) HFE mutations are not strongly associated with sporadic ALS. Neurology 62:1611–1612 ArticlePubMedCAS Google Scholar
Zetterberg H, Jacobsson J, Rosengren L, Blennow K, Andersen PM (2008) Association of APOE with age at onset of sporadic amyotrophic lateral sclerosis. J Neurol Sci 273:67–69. doi:10.1016/j.jns.2008.06.025 ArticlePubMedCAS Google Scholar