Acuna-Hidalgo R, Bo T, Kwint MP, van de Vorst M, Pinelli M, Veltman JA et al (2015) Post-zygotic point mutations are an underrecognized source of de novo genomic variation. Am J Hum Genet 97:67–74. https://doi.org/10.1016/j.ajhg.2015.05.008
CAS
PubMed
PubMed Central
Article
Google Scholar
Acuna-Hidalgo R, Sengul H, Steehouwer M, van de Vorst M, Vermeulen SH, Kiemeney L et al (2017) Ultra-sensitive sequencing identifies high prevalence of clonal hematopoiesis-associated mutations throughout adult life. Am J Hum Genet 101:50–64. https://doi.org/10.1016/j.ajhg.2017.05.013
CAS
PubMed
PubMed Central
Article
Google Scholar
Acuna-Hidalgo R, Veltman JA, Hoischen A (2016) New insights into the generation and role of de novo mutations in health and disease. Genome Biol 17:241. https://doi.org/10.1186/s13059-016-1110-1
CAS
PubMed
PubMed Central
Article
Google Scholar
Agarwal S, Potocki L, Collier TR, Woodbury SL, Adesina AM, Jones J et al (2016) Utility of whole exome sequencing in evaluation of juvenile motor neuron disease. Muscle Nerve 53:648–652. https://doi.org/10.1002/mus.25030
PubMed
Article
Google Scholar
Al-Chalabi A, Calvo A, Chio A, Colville S, Ellis CM, Hardiman O et al (2014) Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study. Lancet Neurol 13:1108–1113. https://doi.org/10.1016/S1474-4422(14)70219-4
PubMed
PubMed Central
Article
Google Scholar
Al-Chalabi A, Fang F, Hanby MF, Leigh PN, Shaw CE, Ye W et al (2010) An estimate of amyotrophic lateral sclerosis heritability using twin data. J Neurol Neurosurg Psychiatry 81:1324–1326. https://doi.org/10.1136/jnnp.2010.207464
CAS
PubMed
Article
Google Scholar
Alexander MD, Traynor BJ, Miller N, Corr B, Frost E, McQuaid S et al (2002) “True” sporadic ALS associated with a novel SOD-1 mutation. Ann Neurol 52:680–683. https://doi.org/10.1002/ana.10369
CAS
PubMed
Article
Google Scholar
Alzualde A, Moreno F, Martinez-Lage P, Ferrer I, Gorostidi A, Otaegui D et al (2010) Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178N mutation in the PRNP gene. Am J Med Genet B Neuropsychiatr Genet 153B:1283–1291. https://doi.org/10.1002/ajmg.b.31099
CAS
PubMed
Article
Google Scholar
Arendt T (2012) Cell cycle activation and aneuploid neurons in Alzheimer’s disease. Mol Neurobiol 46:125–135. https://doi.org/10.1007/s12035-012-8262-0
CAS
PubMed
Article
Google Scholar
Arendt T, Bruckner MK, Losche A (2015) Regional mosaic genomic heterogeneity in the elderly and in Alzheimer’s disease as a correlate of neuronal vulnerability. Acta Neuropathol 130:501–510. https://doi.org/10.1007/s00401-015-1465-5
CAS
PubMed
Article
Google Scholar
Arthur KC, Doyle C, Chio A, Traynor BJ (2017) Use of genetic testing in amyotrophic lateral sclerosis by neurologists. JAMA Neurology 74:125–126. https://doi.org/10.1001/jamaneurol.2016.4540
PubMed
Article
PubMed Central
Google Scholar
Asante EA, Smidak M, Grimshaw A, Houghton R, Tomlinson A, Jeelani A et al (2015) A naturally occurring variant of the human prion protein completely prevents prion disease. Nature 522:478–481. https://doi.org/10.1038/nature14510
CAS
PubMed
PubMed Central
Article
Google Scholar
Ayaki T, Ito H, Fukushima H, Inoue T, Kondo T, Ikemoto A et al (2014) Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant. Acta Neuropathol Commun 2:172. https://doi.org/10.1186/s40478-014-0172-0
PubMed
PubMed Central
Article
Google Scholar
Azevedo FA, Carvalho LR, Grinberg LT, Farfel JM, Ferretti RE, Leite RE et al (2009) Equal numbers of neuronal and nonneuronal cells make the human brain an isometrically scaled-up primate brain. J Comp Neurol 513:532–541. https://doi.org/10.1002/cne.21974
PubMed
Article
Google Scholar
Bae T, Tomasini L, Mariani J, Zhou B, Roychowdhury T, Franjic D et al (2018) Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. Science 359:550–555. https://doi.org/10.1126/science.aan8690
CAS
PubMed
Article
Google Scholar
Bagyinszky E, Park SA, Kim HJ, Choi SH, An SS, Kim SY (2016) PSEN1 L226F mutation in a patient with early-onset Alzheimer’s disease in Korea. Clin Interv Aging 11:1433–1440. https://doi.org/10.2147/CIA.S111821
PubMed
PubMed Central
Article
Google Scholar
Baumer D, Hilton D, Paine SM, Turner MR, Lowe J, Talbot K et al (2010) Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations. Neurology 75:611–618. https://doi.org/10.1212/WNL.0b013e3181ed9cde
CAS
PubMed
PubMed Central
Article
Google Scholar
Beck JA, Poulter M, Campbell TA, Uphill JB, Adamson G, Geddes JF et al (2004) Somatic and germline mosaicism in sporadic early-onset Alzheimer’s disease. Hum Mol Genet 13:1219–1224. https://doi.org/10.1093/hmg/ddh134
CAS
PubMed
Article
Google Scholar
Bellenguez C, Charbonnier C, Grenier-Boley B, Quenez O, Le Guennec K, Nicolas G et al (2017) Contribution to Alzheimer’s disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls. Neurobiol Aging 59:220.e221–220.e229. https://doi.org/10.1016/j.neurobiolaging.2017.07.001
CAS
Article
Google Scholar
Ben El Haj R, Salmi A, Regragui W, Moussa A, Bouslam N, Tibar H et al (2017) Evidence for prehistoric origins of the G2019S mutation in the North African Berber population. PLoS One 12:e0181335. https://doi.org/10.1371/journal.pone.0181335
CAS
PubMed
PubMed Central
Article
Google Scholar
Benzinger TL, Blazey T, Jack CR Jr, Koeppe RA, Su Y, Xiong C et al (2013) Regional variability of imaging biomarkers in autosomal dominant Alzheimer’s disease. Proc Natl Acad Sci USA 110:E4502–E4509. https://doi.org/10.1073/pnas.1317918110
CAS
PubMed
Article
PubMed Central
Google Scholar
Bianchin MM, Capella HM, Chaves DL, Steindel M, Grisard EC, Ganev GG et al (2004) Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy–PLOSL): a dementia associated with bone cystic lesions. From clinical to genetic and molecular aspects. Cell Mol Neurobiol 24:1–24
CAS
Article
PubMed
Google Scholar
Biesecker LG, Spinner NB (2013) A genomic view of mosaicism and human disease. Nat Rev Genet 14:307–320. https://doi.org/10.1038/nrg3424
CAS
PubMed
Article
Google Scholar
Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton-Nelson KL, Bush WS et al (2018) Whole exome sequencing study identifies novel rare and common Alzheimer’s-associated variants involved in immune response and transcriptional regulation. Molecular Psychiatry. https://doi.org/10.1038/s41380-018-0112-7
Article
PubMed
PubMed Central
Google Scholar
Boeve BF, Tremont-Lukats IW, Waclawik AJ, Murrell JR, Hermann B, Jack CR Jr et al (2005) Longitudinal characterization of two siblings with frontotemporal dementia and parkinsonism linked to chromosome 17 associated with the S305N tau mutation. Brain 128:752–772. https://doi.org/10.1093/brain/awh356
PubMed
Article
Google Scholar
Borroni B, Grassi M, Bianchi M, Bruni AC, Maletta RG, Anfossi M et al (2014) Estimating the inheritance of frontotemporal lobar degeneration in the Italian population. J Alzheimer’s Dis 41:371–376. https://doi.org/10.3233/JAD-130128
Article
Google Scholar
Bruder CE, Piotrowski A, Gijsbers AA, Andersson R, Erickson S, Diaz de Stahl T et al (2008) Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet 82:763–771. https://doi.org/10.1016/j.ajhg.2007.12.011
CAS
PubMed
PubMed Central
Article
Google Scholar
Bu XL, Xiang Y, Jin WS, Wang J, Shen LL, Huang ZL et al (2017) Blood-derived amyloid-beta protein induces Alzheimer’s disease pathologies. Mol Psychiatry. https://doi.org/10.1038/mp.2017.204
Article
PubMed
PubMed Central
Google Scholar
Bushman DM, Kaeser GE, Siddoway B, Westra JW, Rivera RR, Rehen SK et al (2015) Genomic mosaicism with increased amyloid precursor protein (APP) gene copy number in single neurons from sporadic Alzheimer’s disease brains. eLife. eLife 4:05116. https://doi.org/10.7554/elife.05116
Article
Google Scholar
Cai X, Evrony GD, Lehmann HS, Elhosary PC, Mehta BK, Poduri A et al (2014) Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain. Cell Rep 8:1280–1289. https://doi.org/10.1016/j.celrep.2014.07.043
CAS
PubMed
PubMed Central
Article
Google Scholar
Calvo A, Moglia C, Canosa A, Brunetti M, Barberis M, Traynor BJ et al (2014) De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case. Neurobiol Aging 35(1513):e1511–e1517. https://doi.org/10.1016/j.neurobiolaging.2013.12.028
CAS
Article
Google Scholar
Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, McEntagart ME et al (2014) Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Am J Hum Genet 95:173–182. https://doi.org/10.1016/j.ajhg.2014.07.003
CAS
PubMed
PubMed Central
Article
Google Scholar
Campion D, Pottier C, Nicolas G, Le Guennec K, Rovelet-Lecrux A (2016) Alzheimer disease: modeling an Abeta-centered biological network. Mol Psychiatry 21:861–871. https://doi.org/10.1038/mp.2016.38
CAS
PubMed
Article
Google Scholar
Cannella M, Martino T, Simonelli M, Ciammola A, Gradini R, Ciarmiello A et al (2009) De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia. BMJ Case Rep 78:1411–1413. https://doi.org/10.1136/bcr.08.2008.0711
Article
Google Scholar
Carecchio M, Picillo M, Valletta L, Elia AE, Haack TB, Cozzolino A et al (2017) Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation. Neurogenetics 18:175–178. https://doi.org/10.1007/s10048-017-0518-4
CAS
PubMed
Article
Google Scholar
Chartier-Harlin MC, Crawford F, Houlden H, Warren A, Hughes D, Fidani L et al (1991) Early-onset Alzheimer’s disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene. Nature 353:844–846. https://doi.org/10.1038/353844a0
CAS
PubMed
Article
Google Scholar
Chesi A, Staahl BT, Jovicic A, Couthouis J, Fasolino M, Raphael AR et al (2013) Exome sequencing to identify de novo mutations in sporadic ALS trios. Nat Neurosci 16:851–855. https://doi.org/10.1038/nn.3412
CAS
PubMed
PubMed Central
Article
Google Scholar
Chio A, Calvo A, Moglia C, Ossola I, Brunetti M, Sbaiz L et al (2011) A de novo missense mutation of the FUS gene in a “true” sporadic ALS case. Neurobiol Aging 32(553):e523–e556. https://doi.org/10.1016/j.neurobiolaging.2010.05.016
CAS
Article
Google Scholar
Conte A, Lattante S, Zollino M, Marangi G, Luigetti M, Del Grande A et al (2012) P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis. Neuromusc Disord 22:73–75. https://doi.org/10.1016/j.nmd.2011.08.003
PubMed
Article
Google Scholar
Cruts M, van Duijn CM, Backhovens H, Van den Broeck M, Wehnert A, Serneels S et al (1998) Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease. Hum Mol Genet 7:43–51
CAS
Article
PubMed
Google Scholar
Dagvadorj A, Petersen RB, Lee HS, Cervenakova L, Shatunov A, Budka H et al (2002) Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy. Ann Neurol 52:355–359. https://doi.org/10.1002/ana.10267
CAS
PubMed
Article
Google Scholar
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T et al (2012) Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J medicine 367:1921–1929. https://doi.org/10.1056/NEJMoa1206524
CAS
Article
Google Scholar
De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE et al (2014) Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 515:209–215. https://doi.org/10.1038/nature13772
CAS
PubMed
PubMed Central
Article
Google Scholar
Deciphering Developmental Disorders S (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature 542:433–438. https://doi.org/10.1038/nature21062
CAS
Article
Google Scholar
DeJesus-Hernandez M, Kocerha J, Finch N, Crook R, Baker M, Desaro P et al (2010) De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis. Hum Mutat 31:E1377–E1389. https://doi.org/10.1002/humu.21241
CAS
PubMed
PubMed Central
Article
Google Scholar
Depienne C, Fedirko E, Faucheux JM, Forlani S, Bricka B, Goizet C et al (2007) A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP. Neurogenetics 8:231–233. https://doi.org/10.1007/s10048-007-0090-4
PubMed
Article
Google Scholar
Di Fede G, Catania M, Morbin M, Rossi G, Suardi S, Mazzoleni G et al (2009) A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis. Science 323:1473–1477. https://doi.org/10.1126/science.1168979
CAS
PubMed
PubMed Central
Article
Google Scholar
Dumanchin C, Brice A, Campion D, Hannequin D, Martin C, Moreau V et al (1998) De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer’s disease cases. French Alzheimer’s Disease Study Group. J Med Genet 35:672–673
CAS
Article
PubMed
PubMed Central
Google Scholar
Eichler FS, Li J, Guo Y, Caruso PA, Bjonnes AC, Pan J et al (2016) CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids. Brain 139:1666–1672. https://doi.org/10.1093/brain/aww066
PubMed
PubMed Central
Article
Google Scholar
Evrony GD, Lee E, Park PJ, Walsh CA (2016) Resolving rates of mutation in the brain using single-neuron genomics. ELife 5:e12966. https://doi.org/10.7554/elife.12966
PubMed
PubMed Central
Article
Google Scholar
Farg MA, Konopka A, Soo KY, Ito D, Atkin JD (2017) The DNA damage response (DDR) is induced by the C9orf72 repeat expansion in amyotrophic lateral sclerosis. Hum Mol Genet 26:2882–2896. https://doi.org/10.1093/hmg/ddx170
CAS
PubMed
Article
Google Scholar
Gatz M, Reynolds CA, Fratiglioni L, Johansson B, Mortimer JA, Berg S et al (2006) Role of genes and environments for explaining Alzheimer disease. Arch Gen Psychiatry 63:168–174. https://doi.org/10.1001/archpsyc.63.2.168
PubMed
Article
Google Scholar
Gijselinck I, Van Mossevelde S, van der Zee J, Sieben A, Engelborghs S, De Bleecker J et al (2016) The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter. Mol Psychiatry 21:1112–1124. https://doi.org/10.1038/mp.2015.159
CAS
PubMed
Article
Google Scholar
Gilissen C, Hehir-Kwa JY, Thung DT, van de Vorst M, van Bon BW, Willemsen MH et al (2014) Genome sequencing identifies major causes of severe intellectual disability. Nature 511:344–347. https://doi.org/10.1038/nature13394
CAS
Article
PubMed
Google Scholar
Glenner GG, Wong CW (1984) Alzheimer’s disease and Down’s syndrome: sharing of a unique cerebrovascular amyloid fibril protein. Biochem Biophys Res Commun 122:1131–1135
CAS
Article
PubMed
Google Scholar
Golan MP, Styczynska M, Jozwiak K, Walecki J, Maruszak A, Pniewski J et al (2007) Early-onset Alzheimer’s disease with a de novo mutation in the presenilin 1 gene. Exp Neurol 208:264–268. https://doi.org/10.1016/j.expneurol.2007.08.016
CAS
PubMed
Article
Google Scholar
Gomez-Ramos A, Picher AJ, Garcia E, Garrido P, Hernandez F, Soriano E et al (2017) Validation of suspected somatic single nucleotide variations in the brain of Alzheimer’s disease patients. J Alzheimer’s Dis 56:977–990. https://doi.org/10.3233/JAD-161053
CAS
Article
Google Scholar
Guo JF, Zhang L, Li K, Mei JP, Xue J, Chen J et al (2018) Coding mutations in NUS1 contribute to Parkinson’s disease. In: Proceedings of the National Academy of Sciences of the United States of America. https://doi.org/10.1073/pnas.1809969115
Guyant-Marechal I, Berger E, Laquerriere A, Rovelet-Lecrux A, Viennet G, Frebourg T (2008) Intrafamilial diversity of phenotype associated with app duplication. Neurology 71:1925–1926. https://doi.org/10.1212/01.wnl.0000339400.64213.56
CAS
PubMed
Article
Google Scholar
Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD et al (2017) High rate of recurrent de novo mutations in developmental and epileptic encephalopathies. Am J Hum Genet 101:664–685. https://doi.org/10.1016/j.ajhg.2017.09.008
CAS
PubMed
PubMed Central
Article
Google Scholar
Hedjoudje A, Nicolas G, Goldenberg A, Vanhulle C, Dumant-Forrest C, Deverriere G et al (2018) Morphological features in juvenile Huntington disease associated with cerebellar atrophy—magnetic resonance imaging morphometric analysis. Pediatr Radiol. https://doi.org/10.1007/s00247-018-4167-z
Article
PubMed
Google Scholar
Hernandez DG, Reed X, Singleton AB (2016) Genetics in Parkinson disease: mendelian versus non-Mendelian inheritance. J Neurochem 139(Suppl 1):59–74. https://doi.org/10.1111/jnc.13593
CAS
PubMed
PubMed Central
Article
Google Scholar
Hinnell C, Coulthart MB, Jansen GH, Cashman NR, Lauzon J, Clark A et al (2011) Gerstmann-Straussler-Scheinker disease due to a novel prion protein gene mutation. Neurology 76:485–487. https://doi.org/10.1212/WNL.0b013e31820a0ab2
CAS
PubMed
Article
Google Scholar
Hoang ML, Kinde I, Tomasetti C, McMahon KW, Rosenquist TA, Grollman AP et al (2016) Genome-wide quantification of rare somatic mutations in normal human tissues using massively parallel sequencing. Proc Natl Acad Sci USA 113:9846–9851. https://doi.org/10.1073/pnas.1607794113
CAS
PubMed
Article
PubMed Central
Google Scholar
Hooli BV, Kovacs-Vajna ZM, Mullin K, Blumenthal MA, Mattheisen M, Zhang C et al (2014) Rare autosomal copy number variations in early-onset familial Alzheimer’s disease. Mol Psychiatry 19:676–681. https://doi.org/10.1038/mp.2013.77
CAS
PubMed
Article
Google Scholar
Huang EJ, Zhang J, Geser F, Trojanowski JQ, Strober JB, Dickson DW et al (2010) Extensive FUS-immunoreactive pathology in juvenile amyotrophic lateral sclerosis with basophilic inclusions. Brain Pathol 20:1069–1076. https://doi.org/10.1111/j.1750-3639.2010.00413.x
CAS
PubMed
PubMed Central
Article
Google Scholar
Hubers A, Just W, Rosenbohm A, Muller K, Marroquin N, Goebel I et al (2015) De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients. Neurobiol Aging 36:3111–3116. https://doi.org/10.1016/j.neurobiolaging.2015.08.005
CAS
Article
Google Scholar
Hughes CD, Choi ML, Ryten M, Hopkins L, Drews A, Botia JA et al (2018) Picomolar concentrations of oligomeric alpha-synuclein sensitizes TLR4 to play an initiating role in Parkinson’s disease pathogenesis. Acta Neuropathol. https://doi.org/10.1007/s00401-018-1907-y
Article
PubMed
PubMed Central
Google Scholar
Iossifov I, O’Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D et al (2014) The contribution of de novo coding mutations to autism spectrum disorder. Nature 515:216–221. https://doi.org/10.1038/nature13908
CAS
PubMed
PubMed Central
Article
Google Scholar
Jamuar SS, Lam AT, Kircher M, D’Gama AM, Wang J, Barry BJ et al (2014) Somatic mutations in cerebral cortical malformations. N Engl J Med 371:733–743. https://doi.org/10.1056/NEJMoa1314432
CAS
PubMed
PubMed Central
Article
Google Scholar
Jansen IE, Ye H, Heetveld S, Lechler MC, Michels H, Seinstra RI et al (2017) Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing. Genome Biol 18:22. https://doi.org/10.1186/s13059-017-1147-9
CAS
PubMed
PubMed Central
Article
Google Scholar
Jeon BS, Farrer MJ, Bortnick SF, Korean Canadian Alliance on Parkinson’s D, Related D (2014) Mutant COQ2 in multiple-system atrophy. N Engl J Med 371:80. https://doi.org/10.1056/NEJMc1311763
PubMed
Article
Google Scholar
Jonsson T, Stefansson H, Steinberg S, Jonsdottir I, Jonsson PV, Snaedal J et al (2013) Variant of TREM2 associated with the risk of Alzheimer’s disease. N Engl J Med 368:107–116. https://doi.org/10.1056/NEJMoa1211103
CAS
PubMed
Article
Google Scholar
Keogh MJ, Kurzawa-Akanbi M, Griffin H, Douroudis K, Ayers KL, Hussein RI et al (2016) Exome sequencing in dementia with Lewy bodies. Transl Psychiatry 6:e728. https://doi.org/10.1038/tp.2015.220
CAS
PubMed
PubMed Central
Article
Google Scholar
Keogh MJ, Wei W, Aryaman J, Walker L, van den Ameele J, Coxhead J et al (2018) High prevalence of focal and multi-focal somatic genetic variants in the human brain. Nat Commun 9:4257. https://doi.org/10.1038/s41467-018-06331-w
CAS
PubMed
PubMed Central
Article
Google Scholar
Keogh MJ, Wei W, Wilson I, Coxhead J, Ryan S, Rollinson S et al (2017) Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource. Genome Res 27:165–173. https://doi.org/10.1101/gr.210609.116
CAS
PubMed
PubMed Central
Article
Google Scholar
Ki CS, Stavrou EF, Davanos N, Lee WY, Chung EJ, Kim JY et al (2007) The Ala53Thr mutation in the alpha-synuclein gene in a Korean family with Parkinson disease. Clin Genet 71:471–473. https://doi.org/10.1111/j.1399-0004.2007.00781.x
PubMed
Article
Google Scholar
Kim YE, Oh KW, Kwon MJ, Choi WJ, Oh SI, Ki CS et al (2015) De novo FUS mutations in 2 Korean patients with sporadic amyotrophic lateral sclerosis. Neurobiol Aging 36(1604):e1609–e1617. https://doi.org/10.1016/j.neurobiolaging.2014.10.002
CAS
Article
Google Scholar
Kinnunen KM, Cash DM, Poole T, Frost C, Benzinger TLS, Ahsan RL et al (2018) Presymptomatic atrophy in autosomal dominant Alzheimer’s disease: a serial magnetic resonance imaging study. Alzheimer’s Dement 14:43–53. https://doi.org/10.1016/j.jalz.2017.06.2268
Article
Google Scholar
Knouse KA, Wu J, Whittaker CA, Amon A (2014) Single cell sequencing reveals low levels of aneuploidy across mammalian tissues. Proc Natl Acad Sci USA 111:13409–13414. https://doi.org/10.1073/pnas.1415287111
CAS
PubMed
Article
PubMed Central
Google Scholar
Kojovic M, Glavac D, Ozek B, Zupan A, Popovic M (2011) De novo P102L mutation in a patient with Gerstmann-Straussler-Scheinker disease. Eur J Neurol 18:e152–e153. https://doi.org/10.1111/j.1468-1331.2011.03531.x
CAS
PubMed
Article
Google Scholar
Kujala P, Raymond CR, Romeijn M, Godsave SF, van Kasteren SI, Wille H et al (2011) Prion uptake in the gut: identification of the first uptake and replication sites. PLoS Pathog 7:e1002449. https://doi.org/10.1371/journal.ppat.1002449
CAS
PubMed
PubMed Central
Article
Google Scholar
Kumar KR, Djarmati-Westenberger A, Grunewald A (2011) Genetics of Parkinson’s disease. Semin Neurol 31:433–440. https://doi.org/10.1055/s-0031-1299782
PubMed
Article
Google Scholar
Kun-Rodrigues C, Ganos C, Guerreiro R, Schneider SA, Schulte C, Lesage S et al (2015) A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease. Hum Mol Genet 24:6711–6720. https://doi.org/10.1093/hmg/ddv376
CAS
PubMed
PubMed Central
Article
Google Scholar
La Bella V, Liguori M, Cittadella R, Settipani N, Piccoli T, Manna I et al (2004) A novel mutation (Thr116Ile) in the presenilin 1 gene in a patient with early-onset Alzheimer’s disease. Eur J Neurol 11:521–524. https://doi.org/10.1111/j.1468-1331.2004.00828.x
PubMed
Article
Google Scholar
Laffita-Mesa JM, Velazquez-Perez LC, Santos Falcon N, Cruz-Marino T, Gonzalez Zaldivar Y, Vazquez Mojena Y et al (2012) Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles. Eur J Neurol 20:41–49. https://doi.org/10.1038/ejhg.2011.154
CAS
Article
Google Scholar
Lalli MA, Cox HC, Arcila ML, Cadavid L, Moreno S, Garcia G et al (2014) Origin of the PSEN1 E280A mutation causing early-onset Alzheimer’s disease. Alzheimer’s Dement 10: S277–S283:e210. https://doi.org/10.1016/j.jalz.2013.09.005
Article
Google Scholar
Lanoiselee HM, Nicolas G, Wallon D, Rovelet-Lecrux A, Lacour M, Rousseau S et al (2017) APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: a genetic screening study of familial and sporadic cases. PLoS Med 14:e1002270. https://doi.org/10.1371/journal.pmed.1002270
CAS
PubMed
PubMed Central
Article
Google Scholar
Laurens B, Vergnet S, Lopez MC, Foubert-Samier A, Tison F, Fernagut PO et al (2017) Multiple system atrophy—state of the art. Curr Neurol Neurosci Rep 17:41. https://doi.org/10.1007/s11910-017-0751-0
PubMed
Article
Google Scholar
Le Ber I, van der Zee J, Hannequin D, Gijselinck I, Campion D, Puel M et al (2007) Progranulin null mutations in both sporadic and familial frontotemporal dementia. Hum Mutat 28:846–855. https://doi.org/10.1002/humu.20520
CAS
PubMed
Article
Google Scholar
Le Guennec K, Nicolas G, Quenez O, Charbonnier C, Wallon D, Bellenguez C et al (2016) ABCA7 rare variants and Alzheimer disease risk. Neurology 86:2134–2137. https://doi.org/10.1212/WNL.0000000000002627
CAS
PubMed
PubMed Central
Article
Google Scholar
Le Guennec K, Quenez O, Nicolas G, Wallon D, Rousseau S, Richard AC et al (2017) 17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression. Mol Psychiatry 22:1119–1125. https://doi.org/10.1038/mp.2016.226
CAS
PubMed
Article
Google Scholar
Leblond CS, Webber A, Gan-Or Z, Moore F, Dagher A, Dion PA et al (2016) De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia. Neurol Genet 2:e63. https://doi.org/10.1212/NXG.0000000000000063
PubMed
PubMed Central
Article
Google Scholar
Leija-Salazar M, Piette C, Proukakis C (2018) Review: somatic mutations in neurodegeneration. Neuropathol Appl Neurobiol 44:267–285. https://doi.org/10.1111/nan.12465
CAS
PubMed
Article
Google Scholar
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T et al (2016) Analysis of protein-coding genetic variation in 60,706 humans. Nature 536:285–291. https://doi.org/10.1038/nature19057
CAS
PubMed
PubMed Central
Article
Google Scholar
Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X et al (2017) Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat Neurosci 20:1217–1224. https://doi.org/10.1038/nn.4598
CAS
PubMed
PubMed Central
Article
Google Scholar
Lodato MA, Rodin RE, Bohrson CL, Coulter ME, Barton AR, Kwon M et al (2018) Aging and neurodegeneration are associated with increased mutations in single human neurons. Science 359:555–559. https://doi.org/10.1126/science.aao4426
CAS
PubMed
Article
Google Scholar
Lodato MA, Woodworth MB, Lee S, Evrony GD, Mehta BK, Karger A et al (2015) Somatic mutation in single human neurons tracks developmental and transcriptional history. Science 350:94–98. https://doi.org/10.1126/science.aab1785
CAS
PubMed
PubMed Central
Article
Google Scholar
Lou F, Luo X, Li M, Ren Y, He Z (2017) Very early-onset sporadic Alzheimer’s disease with a de novo mutation in the PSEN1 gene. Neurobiol Aging 53:191–193. https://doi.org/10.1016/j.neurobiolaging.2016.12.026
CAS
Article
Google Scholar
Lubbe SJ, Escott-Price V, Gibbs JR, Nalls MA, Bras J, Price TR et al (2016) Additional rare variant analysis in Parkinson’s disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance. Hum Mol Genet 25:5483–5489. https://doi.org/10.1093/hmg/ddw348
CAS
Article
PubMed
PubMed Central
Google Scholar
Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ et al (2009) Finding the missing heritability of complex diseases. Nature 461:747–753. https://doi.org/10.1038/nature08494
CAS
PubMed
PubMed Central
Article
Google Scholar
McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, Ioannidis JP et al (2008) Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 9:356–369. https://doi.org/10.1038/nrg2344
CAS
Article
PubMed
Google Scholar
McConnell MJ, Lindberg MR, Brennand KJ, Piper JC, Voet T, Cowing-Zitron C et al (2013) Mosaic copy number variation in human neurons. Science 342:632–637. https://doi.org/10.1126/science.1243472
CAS
PubMed
PubMed Central
Article
Google Scholar
Mitsui J, Tsuji S (2014) Mutant COQ2 in multiple-system atrophy. N Engl J Med 371:82–83. https://doi.org/10.1056/NEJMc1311763
Article
PubMed
Google Scholar
Mokretar K, Pease D, Taanman JW, Soenmez A, Ejaz A, Lashley T et al (2018) Somatic copy number gains of alpha-synuclein (SNCA) in Parkinson’s disease and multiple system atrophy brains. Brain. https://doi.org/10.1093/brain/awy157
Article
PubMed
Google Scholar
Mosch B, Morawski M, Mittag A, Lenz D, Tarnok A, Arendt T (2007) Aneuploidy and DNA replication in the normal human brain and Alzheimer’s disease. J Neurosci 27:6859–6867. https://doi.org/10.1523/JNEUROSCI.0379-07.2007
CAS
PubMed
Article
PubMed Central
Google Scholar
Multiple-System Atrophy Research C (2013) Mutations in COQ2 in familial and sporadic multiple-system atrophy. N Engl J Med 369:233–244. https://doi.org/10.1056/NEJMoa1212115
CAS
Article
Google Scholar
Murphy NA, Arthur KC, Tienari PJ, Houlden H, Chio A, Traynor BJ (2017) Age-related penetrance of the C9orf72 repeat expansion. Sci Rep 7:2116. https://doi.org/10.1038/s41598-017-02364-1
CAS
PubMed
PubMed Central
Article
Google Scholar
Nacheva E, Mokretar K, Soenmez A, Pittman AM, Grace C, Valli R et al (2017) DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation. PLoS One 12:e0180467. https://doi.org/10.1371/journal.pone.0180467
CAS
PubMed
PubMed Central
Article
Google Scholar
Naumann M, Pal A, Goswami A, Lojewski X, Japtok J, Vehlow A, Naujock M, Gunther R, Jin M, Stanslowsky N et al (2018) Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation. Nat Commun 9:335. https://doi.org/10.1038/s41467-017-02299-1
CAS
PubMed
PubMed Central
Article
Google Scholar
Neuenschwander AG, Thai KK, Figueroa KP, Pulst SM (2014) Amyotrophic lateral sclerosis risk for spinocerebellar ataxia type 2 ATXN2 CAG repeat alleles: a meta-analysis. JAMA Neurol 71:1529–1534. https://doi.org/10.1001/jamaneurol.2014.2082
PubMed
PubMed Central
Article
Google Scholar
Nicolas G, Acuna-Hidalgo R, Keogh MJ, Quenez O, Steehouwer M, Lelieveld S et al (2018) Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer’s disease. Alzheimer’s Dement. https://doi.org/10.1016/j.jalz.2018.06.3056
Article
Google Scholar
Nicolas G, Charbonnier C, Campion D (2016) From common to rare variants: the genetic component of Alzheimer disease. Hum Hered 81:129–141. https://doi.org/10.1159/000452256
CAS
PubMed
Article
Google Scholar
Nicolas G, Charbonnier C, Wallon D, Quenez O, Bellenguez C, Grenier-Boley B et al (2016) SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease. Mol Psychiatry 21:831–836. https://doi.org/10.1038/mp.2015.121
CAS
PubMed
Article
Google Scholar
Nicolas G, Jacquin A, Thauvin-Robinet C, Rovelet-Lecrux A, Rouaud O, Pottier C et al (2014) A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia. Eur J Hum Genet 22:1236–1238. https://doi.org/10.1038/ejhg.2014.9
CAS
PubMed
PubMed Central
Article
Google Scholar
Nicolas G, Wallon D, Charbonnier C, Quenez O, Rousseau S, Richard AC et al (2016) Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons. Eur J Hum Genet 24:710–716. https://doi.org/10.1038/ejhg.2015.173
CAS
PubMed
Article
Google Scholar
Ogaki K, Li Y, Takanashi M, Ishikawa K, Kobayashi T, Nonaka T et al (2013) Analyses of the MAPT, PGRN, and C9orf72 mutations in Japanese patients with FTLD, PSP, and CBS. Parkinson Relat Disord 19:15–20. https://doi.org/10.1016/j.parkreldis.2012.06.019
Article
Google Scholar
Onyike CU, Diehl-Schmid J (2013) The epidemiology of frontotemporal dementia. Int Rev Psychiatry 25(2):130–137
Article
PubMed
PubMed Central
Google Scholar
Ozawa T (2014) The COQ2 mutations in Japanese multiple system atrophy: impact on the pathogenesis and phenotypic variation. Mov Disord 29:184. https://doi.org/10.1002/mds.25685
CAS
PubMed
Article
Google Scholar
Pamphlett R, Cheong PL, Trent RJ, Yu B (2013) Can ALS-associated C9orf72 repeat expansions be diagnosed on a blood DNA test alone? PLoS One 8:e70007. https://doi.org/10.1371/journal.pone.0070007
CAS
PubMed
PubMed Central
Article
Google Scholar
Pamphlett R, Heath PR, Holden H, Ince PG, Shaw PJ (2005) Detection of mutations in whole genome-amplified DNA from laser-microdissected neurons. J Neurosci Methods 147:65–67. https://doi.org/10.1016/j.jneumeth.2005.03.005
CAS
PubMed
Article
Google Scholar
Parcerisas A, Rubio SE, Muhaisen A, Gomez-Ramos A, Pujadas L, Puiggros M et al (2014) Somatic signature of brain-specific single nucleotide variations in sporadic Alzheimer’s disease. J Alzheimer’s Dis 42:1357–1382. https://doi.org/10.3233/JAD-140891
CAS
Article
Google Scholar
Park EJ, Grabinska KA, Guan Z, Stranecky V, Hartmannova H, Hodanova K et al (2014) Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation. Cell Metab 20:448–457. https://doi.org/10.1016/j.cmet.2014.06.016
CAS
PubMed
PubMed Central
Article
Google Scholar
Pasmooij AM, Pas HH, Bolling MC, Jonkman MF (2007) Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. J Clin Investig 117:1240–1248. https://doi.org/10.1172/JCI30465
CAS
PubMed
Article
PubMed Central
Google Scholar
Pasmooij AM, Pas HH, Deviaene FC, Nijenhuis M, Jonkman MF (2005) Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa. Am J Hum Genet 77:727–740. https://doi.org/10.1086/497344
CAS
PubMed
PubMed Central
Article
Google Scholar
Pearce MM (2017) Prion-like transmission of pathogenic protein aggregates in genetic models of neurodegenerative disease. Curr Opin Genet Dev 44:149–155. https://doi.org/10.1016/j.gde.2017.03.011
CAS
PubMed
Article
Google Scholar
Perandones C, Araoz Olivos N, Raina GB, Pellene LA, Giugni JC, Calvo DS et al (2015) Successful GPi stimulation in genetic Parkinson’s disease caused by mosaicism of alpha-synuclein gene duplication: first description. J Neurol 262:222–223. https://doi.org/10.1007/s00415-014-7576-4
CAS
PubMed
Article
Google Scholar
Perandones C, Giugni JC, Calvo DS, Raina GB, De Jorge Lopez L, Volpini V et al (2014) Mosaicism of alpha-synuclein gene rearrangements: report of two unrelated cases of early-onset parkinsonism. Parkinson Relat Disord 20:558–561. https://doi.org/10.1016/j.parkreldis.2013.11.014
CAS
Article
Google Scholar
Poduri A, Evrony GD, Cai X, Walsh CA (2013) Somatic mutation, genomic variation, and neurological disease. Science 341:1237758. https://doi.org/10.1126/science.1237758
CAS
PubMed
PubMed Central
Article
Google Scholar
Portet F, Dauvilliers Y, Campion D, Raux G, Hauw JJ, Lyon-Caen O et al (2003) Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu). Neurology 61:1136–1137
CAS
Article
PubMed
Google Scholar
Potter H, Granic A, Caneus J (2016) Role of trisomy 21 mosaicism in sporadic and familial Alzheimer’s disease. Curr Alzheimer Res 13:7–17
CAS
Article
PubMed
PubMed Central
Google Scholar
Pottier C, Bieniek KF, Finch N, van de Vorst M, Baker M, Perkersen R 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. https://doi.org/10.1007/s00401-015-1436-x
CAS
PubMed
PubMed Central
Article
Google Scholar
Pottier C, Ravenscroft TA, Sanchez-Contreras M, Rademakers R (2016) Genetics of FTLD: overview and what else we can expect from genetic studies. J Neurochem 138(Suppl 1):32–53. https://doi.org/10.1111/jnc.13622
CAS
PubMed
Article
Google Scholar
Proukakis C (2014) Genetics of Parkinson’s disease: alpha-synuclein and other insights from Greece. Eur J Neurol 21:946–947. https://doi.org/10.1111/ene.12357
CAS
PubMed
Article
Google Scholar
Proukakis C, Shoaee M, Morris J, Brier T, Kara E, Sheerin UM et al (2014) Analysis of Parkinson’s disease brain-derived DNA for alpha-synuclein coding somatic mutations. Mov Disord 29:1060–1064. https://doi.org/10.1002/mds.25883
CAS
PubMed
PubMed Central
Article
Google Scholar
Puschmann A, Ross OA, Vilarino-Guell C, Lincoln SJ, Kachergus JM, Cobb SA et al (2009) A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction. Parkinson Relat Disord 15:627–632. https://doi.org/10.1016/j.parkreldis.2009.06.007
Article
Google Scholar
Quinzii CM, Hirano M, DiMauro S (2014) Mutant COQ2 in multiple-system atrophy. N Engl J Med 371:81–82. https://doi.org/10.1056/NEJMc1311763
Article
PubMed
PubMed Central
Google Scholar
Rascovsky K, Hodges JR, Knopman D, Mendez MF, Kramer JH, Neuhaus J et al (2011) Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain 134:2456–2477. https://doi.org/10.1093/brain/awr179
PubMed
PubMed Central
Article
Google Scholar
Reznik-Wolf H, Machado J, Haroutunian V, DeMarco L, Walter GF, Goldman B et al (1998) Somatic mutation analysis of the APP and Presenilin 1 and 2 genes in Alzheimer’s disease brains. J Neurogenet 12:55–65
CAS
Article
PubMed
Google Scholar
Ribierre T, Deleuze C, Bacq A, Baldassari S, Marsan E, Chipaux M et al (2018) Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy. J Clin Investig 128:2452–2458. https://doi.org/10.1172/JCI99384
PubMed
Article
PubMed Central
Google Scholar
Riviere JB, Mirzaa GM, O’Roak BJ, Beddaoui M, Alcantara D, Conway RL et al (2012) De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet 44:934–940. https://doi.org/10.1038/ng.2331
CAS
PubMed
PubMed Central
Article
Google Scholar
Rizzu P, Van Swieten JC, Joosse M, Hasegawa M, Stevens M, Tibben A et al (1999) High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands. Am J Hum Genet 64:414–421. https://doi.org/10.1086/302256
CAS
PubMed
PubMed Central
Article
Google Scholar
Rogaev EI, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, Liang Y et al (1995) Familial Alzheimer’s disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer’s disease type 3 gene. Nature 376:775–778. https://doi.org/10.1038/376775a0
CAS
PubMed
Article
Google Scholar
Rohrback S, April C, Kaper F, Rivera RR, Liu CS, Siddoway B et al (2018) Submegabase copy number variations arise during cerebral cortical neurogenesis as revealed by single-cell whole-genome sequencing. Proc Natl Acad Sci USA 115:10804–10809. https://doi.org/10.1073/pnas.1812702115
CAS
PubMed
Article
PubMed Central
Google Scholar
Rohrback S, Siddoway B, Liu CS, Chun J (2018) Genomic mosaicism in the developing and adult brain. Dev Neurobiol. https://doi.org/10.1002/dneu.22626
Article
PubMed
PubMed Central
Google Scholar
Rosenkrantz JL, Carbone L (2017) Investigating somatic aneuploidy in the brain: why we need a new model. Chromosoma 126:337–350. https://doi.org/10.1007/s00412-016-0615-4
PubMed
Article
Google Scholar
Ross OA, Braithwaite AT, Skipper LM, Kachergus J, Hulihan MM, Middleton FA et al (2008) Genomic investigation of alpha-synuclein multiplication and parkinsonism. Ann Neurol 63:743–750. https://doi.org/10.1002/ana.21380
CAS
PubMed
Article
Google Scholar
Rovelet-Lecrux A, Charbonnier C, Wallon D, Nicolas G, Seaman MN, Pottier C et al (2015) De novo deleterious genetic variations target a biological network centered on Abeta peptide in early-onset Alzheimer disease. Mol Psychiatry 20:1046–1056. https://doi.org/10.1038/mp.2015.100
CAS
PubMed
Article
Google Scholar
Rovelet-Lecrux A, Hannequin D, Raux G, Le Meur N, Laquerriere A, Vital A et al (2006) APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet 38:24–26. https://doi.org/10.1038/ng1718
CAS
PubMed
Article
Google Scholar
Rovelet-Lecrux A, Legallic S, Wallon D, Flaman JM, Martinaud O, Bombois S et al (2012) A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease. Eur J Hum Genet 20:613–617. https://doi.org/10.1038/ejhg.2011.225
CAS
PubMed
Article
Google Scholar
Sala Frigerio C, Fiers M, Voet T, De Strooper B (2017) Identification of low allele frequency mosaic mutations in Alzheimer disease. Genom Mosaicism Neurons Cell Types: 361–378
Sala Frigerio C, Lau P, Troakes C, Deramecourt V, Gele P, Van Loo P et al (2015) On the identification of low allele frequency mosaic mutations in the brains of Alzheimer’s disease patients. Alzheimer’s Dement 11:1265–1276. https://doi.org/10.1016/j.jalz.2015.02.007
Article
Google Scholar
Samocha KE, Robinson EB, Sanders SJ, Stevens C, Sabo A, McGrath LM et al (2014) A framework for the interpretation of de novo mutation in human disease. Nat Genet 46:944–950. https://doi.org/10.1038/ng.3050
CAS
PubMed
PubMed Central
Article
Google Scholar
Sanchez-Valle R, Arostegui JI, Yague J, Rami L, Llado A, Molinuevo JL (2008) First demonstrated de novo insertion in the prion protein gene in a young patient with dementia. J Neurol Neurosurg Psychiatry 79:845–846. https://doi.org/10.1136/jnnp.2007.137463
PubMed
Article
Google Scholar
Schellenberg GD, Anderson L, O’Dahl S, Wisjman EM, Sadovnick AD, Ball MJ et al (1991) APP717, APP693, and PRIP gene mutations are rare in Alzheimer disease. Am J Hum Genet 49:511–517
CAS
PubMed
PubMed Central
Google Scholar
Schottlaender LV, Houlden H (2014) Mutant COQ2 in multiple-system atrophy. N Engl J Med 371:81. https://doi.org/10.1056/NEJMc1311763
Article
PubMed
Google Scholar
Serra E, Puig S, Otero D, Gaona A, Kruyer H, Ars E et al (1997) Confirmation of a double-hit model for the NF1 gene in benign neurofibromas. Am J Hum Genet 61:512–519. https://doi.org/10.1086/515504
CAS
PubMed
PubMed Central
Article
Google Scholar
Sharma M, Wenning G, Kruger R (2014) Mutant COQ2 in multiple-system atrophy. N Engl J Med 371:80–81. https://doi.org/10.1056/NEJMc1311763
PubMed
Article
Google Scholar
Shatunov A, Fridman EA, Pagan FI, Leib J, Singleton A, Hallett M et al (2004) Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease. Clin Genet 66:496–501. https://doi.org/10.1111/j.1399-0004.2004.00356.x
CAS
PubMed
Article
Google Scholar
Sherrington R, Froelich S, Sorbi S, Campion D, Chi H, Rogaeva EA et al (1996) Alzheimer’s disease associated with mutations in presenilin 2 is rare and variably penetrant. Hum Mol Genet 5:985–988
CAS
Article
PubMed
Google Scholar
Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M et al (1995) Cloning of a gene bearing missense mutations in early-onset familial Alzheimer’s disease. Nature 375:754–760. https://doi.org/10.1038/375754a0
CAS
PubMed
Article
Google Scholar
Steinberg KM, Yu B, Koboldt DC, Mardis ER, Pamphlett R (2015) Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS. Sci Rep 5:9124. https://doi.org/10.1038/srep09124
CAS
PubMed
PubMed Central
Article
Google Scholar
Steinberg S, Stefansson H, Jonsson T, Johannsdottir H, Ingason A, Helgason H et al (2015) Loss-of-function variants in ABCA7 confer risk of Alzheimer’s disease. Nat Genet 47:445–447. https://doi.org/10.1038/ng.3246
CAS
Article
PubMed
Google Scholar
Suh E, Lee EB, Neal D, Wood EM, Toledo JB, Rennert L et al (2015) Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration. Acta Neuropathol 130:363–372. https://doi.org/10.1007/s00401-015-1445-9
CAS
PubMed
PubMed Central
Article
Google Scholar
Szafranski P, Von Allmen GK, Graham BH, Wilfong AA, Kang SH, Ferreira JA et al (2015) 6q22.1 microdeletion and susceptibility to pediatric epilepsy. Eur J Hum Genet 23:173–179. https://doi.org/10.1038/ejhg.2014.75
CAS
PubMed
Article
Google Scholar
Takahashi Y, Fukuda Y, Yoshimura J, Toyoda A, Kurppa K, Moritoyo H et al (2013) ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19. Am J Hum Genet 93:900-905. https://doi.org/10.1016/j.ajhg.2013.09.008
CAS
PubMed Central
Article
Google Scholar
Tarlarini C, Lunetta C, Mosca L, Avemaria F, Riva N, Mantero V et al (2015) Novel FUS mutations identified through molecular screening in a large cohort of familial and sporadic amyotrophic lateral sclerosis. Eur J Neurol 22:1474–1481. https://doi.org/10.1111/ene.12772
CAS
PubMed
Article
Google Scholar
Taylor JP, Brown RH Jr, Cleveland DW (2016) Decoding ALS: from genes to mechanism. Nature 539:197–206. https://doi.org/10.1038/nature20413
PubMed
PubMed Central
Article
Google Scholar
Teyssou E, Vandenberghe N, Moigneu C, Boillee S, Couratier P, Meininger V et al (2014) Genetic analysis of SS18L1 in French amyotrophic lateral sclerosis. Neurobiol Aging 35:1231 e1212–1213 e1219. https://doi.org/10.1016/j.neurobiolaging.2013.11.023
CAS
Article
Google Scholar
Turner MR, Al-Chalabi A, Chio A, Hardiman O, Kiernan MC, Rohrer JD et al (2017) Genetic screening in sporadic ALS and FTD. J Neurol Neurosurg Psychiatry 88:1042–1044. https://doi.org/10.1136/jnnp-2017-315995
PubMed
Article
Google Scholar
Upton KR, Gerhardt DJ, Jesuadian JS, Richardson SR, Sanchez-Luque FJ, Bodea GO et al (2015) Ubiquitous L1 mosaicism in hippocampal neurons. Cell 161:228–239. https://doi.org/10.1016/j.cell.2015.03.026
CAS
PubMed
PubMed Central
Article
Google Scholar
van den Bos H, Spierings DC, Taudt AS, Bakker B, Porubsky D, Falconer E et al (2016) Single-cell whole genome sequencing reveals no evidence for common aneuploidy in normal and Alzheimer’s disease neurons. Genome Biol 17:116. https://doi.org/10.1186/s13059-016-0976-2
CAS
PubMed
PubMed Central
Article
Google Scholar
van Doormaal PTC, Ticozzi N, Weishaupt JH, Kenna K, Diekstra FP, Verde F et al (2017) The role of de novo mutations in the development of amyotrophic lateral sclerosis. Hum Mutat 38:1534–1541. https://doi.org/10.1002/humu.23295
CAS
PubMed
Article
PubMed Central
Google Scholar
Van Langenhove T, van der Zee J, Engelborghs S, Vandenberghe R, Santens P, Van den Broeck M et al (2012) Ataxin-2 polyQ expansions in FTLD-ALS spectrum disorders in Flanders-Belgian cohorts. Neurobiol Aging 33(1004):e1017–e1020. https://doi.org/10.1016/j.neurobiolaging.2011.09.025
CAS
Article
Google Scholar
Veltman JA, Brunner HG (2012) De novo mutations in human genetic disease. Nat Rev Genet 13:565–575. https://doi.org/10.1038/nrg3241
CAS
PubMed
Article
Google Scholar
Vergouw LJM, van Steenoven I, van de Berg WDJ, Teunissen CE, van Swieten JC, Bonifati V et al (2017) An update on the genetics of dementia with Lewy bodies. Parkinsonism Relat Disord 43:1–8. https://doi.org/10.1016/j.parkreldis.2017.07.009
PubMed
Article
Google Scholar
Verheijen BM, Vermulst M, van Leeuwen FW (2018) Somatic mutations in neurons during aging and neurodegeneration. Acta Neuropathol 135:811–826. https://doi.org/10.1007/s00401-018-1850-y
CAS
PubMed
PubMed Central
Article
Google Scholar
Vilarino-Guell C, Wider C, Ross OA, Dachsel JC, Kachergus JM, Lincoln SJ et al (2011) VPS35 mutations in Parkinson disease. Am J Hum Genet 89:162–167. https://doi.org/10.1016/j.ajhg.2011.06.001
CAS
PubMed
PubMed Central
Article
Google Scholar
Vissers LE, de Ligt J, Gilissen C, Janssen I, Steehouwer M, de Vries P et al (2010) A de novo paradigm for mental retardation. Nat Genet 42:1109–1112. https://doi.org/10.1038/ng.712
CAS
PubMed
Article
Google Scholar
Vitek MP, Rasool CG, de Sauvage F, Vitek SM, Bartus RT, Beer B et al (1988) Absence of mutation in the beta-amyloid cDNAs cloned from the brains of three patients with sporadic Alzheimer’s disease. Brain Res 464:121–131
CAS
PubMed
Google Scholar
Wallon D, Rousseau S, Rovelet-Lecrux A, Quillard-Muraine M, Guyant-Marechal L, Martinaud O et al (2012) The French series of autosomal dominant early onset Alzheimer’s disease cases: mutation spectrum and cerebrospinal fluid biomarkers. J Alzheimer’s Dis 30:847–856. https://doi.org/10.3233/JAD-2012-120172
CAS
Article
Google Scholar
Webb TE, Poulter M, Beck J, Uphill J, Adamson G, Campbell T et al (2008) Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series. Brain 131:2632–2646. https://doi.org/10.1093/brain/awn202
CAS
PubMed
PubMed Central
Article
Google Scholar
Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, Spiegel AM (1991) Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med 325:1688–1695. https://doi.org/10.1056/NEJM199112123252403
CAS
PubMed
Article
Google Scholar
Wirdefeldt K, Gatz M, Reynolds CA, Prescott CA, Pedersen NL (2011) Heritability of Parkinson disease in Swedish twins: a longitudinal study. Neurobiol Aging 32(1923):e1921–e1928. https://doi.org/10.1016/j.neurobiolaging.2011.02.017
Article
Google Scholar
Yoshioka K, Miki T, Katsuya T, Ogihara T, Sakaki Y (1991) The 717Val—Ile substitution in amyloid precursor protein is associated with familial Alzheimer’s disease regardless of ethnic groups. Biochem Biophys Res Commun 178:1141–1146
CAS
Article
PubMed
Google Scholar
Zafar F, Valappil RA, Kim S, Johansen KK, Chang ALS, Tetrud JW et al (2018) Genetic fine-mapping of the Iowan SNCA gene triplication in a patient with Parkinson’s disease. NPJ PARKINSON’S Dis 4:18. https://doi.org/10.1038/s41531-018-0054-4
Article
Google Scholar
Zimprich A, Benet-Pages A, Struhal W, Graf E, Eck SH, Offman MN et al (2011) A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am J Hum Genet 89:168–175. https://doi.org/10.1016/j.ajhg.2011.06.008
CAS
PubMed
PubMed Central
Article
Google Scholar
Zou ZY, Cui LY, Sun Q, Li XG, Liu MS, Xu Y et al (2013) De novo FUS gene mutations are associated with juvenile-onset sporadic amyotrophic lateral sclerosis in China. Neurobiol Aging 34(1312):e1311–e1318. https://doi.org/10.1016/j.neurobiolaging.2012.09.005
CAS
Article
Google Scholar