Adib-Samii P, Brice G, Martin RJ, Markus HS (2010) Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype: study in 200 consecutively recruited individuals. Stroke. 41:630–634
Article
PubMed
Google Scholar
Amberger J, Bocchini CA, Scott AF, Hamosh A (2009) McKusick’s Online Mendelian Inheritance in Man (OMIM®). Nucleic Acids Res 37:D793–D796
Article
CAS
PubMed
Google Scholar
Anderson CA, Pettersson FH, Clarke GM, Cardon LR, Morris AP, Zondervan KT (2010) Data quality control in genetic case-control association studies. Nat Protoc. 5:1564–1573
Article
CAS
PubMed
PubMed Central
Google Scholar
Arai T, Mackenzie IRA, Hasegawa M, Nonoka T, Niizato K, Tsuchiya K et al (2009) Phosphorylated TDP-43 in Alzheimer’s disease and dementia with Lewy bodies. Acta Neuropathol. 117:125–136
Article
CAS
PubMed
Google Scholar
Arosio B, Abbate C, Galimberti D, Rossi PD, Inglese S, Fenoglio C et al (2013) GRN Thr272fs clinical heterogeneity: a case with atypical late onset presenting with a dementia with Lewy bodies phenotype. J Alzheimers Dis. 35:669–674
Article
PubMed
Google Scholar
Attems J (2017) The multi-morbid old brain. Acta Neuropathol. 134:169–170
Article
PubMed
Google Scholar
Baker M, Mackenzie IR, Pickering-Brown SM, Gass J, Rademakers R, Lindholm C et al (2006) Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature. 442:916–919
Article
CAS
PubMed
Google Scholar
Beck J, Collinge J, Mead S (2012) Prion protein gene M232R variation is probably an uncommon polymorphism rather than a pathogenic mutation. Brain 135(Pt 2):e209 author reply e210
Article
PubMed
Google Scholar
Benussi A, Padovani A, Borroni B (2015) Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia. Front Aging Neurosci. 7:171
Article
PubMed
PubMed Central
CAS
Google Scholar
Blauwendraat C, Kia DA, Pihlstrøm L, Gan-Or Z, Lesage S, Gibbs JR et al (2018) Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson’s disease. Neurobiol Aging 64:159.e5–159.e8
Article
CAS
Google Scholar
Bonner LT, Tsuang DW, Cherrier MM, Eugenio CJ, Du Jennifer Q, Steinbart EJ et al (2003) Familial dementia with Lewy bodies with an atypical clinical presentation. J Geriatr Psychiatry Neurol. 16:59–64
Article
PubMed
PubMed Central
Google Scholar
Borghero G, Pugliatti M, Marrosu F, Marrosu MG, Murru MR, Floris G et al (2016) TBK1 is associated with ALS and ALS-FTD in Sardinian patients. Neurobiol Aging 43:180.e1–180.e5
Article
CAS
Google Scholar
Bras J, Guerreiro R, Darwent L, Parkkinen L, Ansorge O, Escott-Price V et al (2014) Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum Mol Genet 23:6139–6146
Article
CAS
PubMed
PubMed Central
Google Scholar
Choi JC, Kang S-Y, Kang J-H, Park J-K (2006) Intracerebral hemorrhages in CADASIL. Neurology. 67:2042–2044
Article
PubMed
Google Scholar
Cingolani P, Platts A, Wang LL, Coon M, Nguyen T, Wang L et al (2012) A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly 6:80–92
Article
CAS
PubMed
PubMed Central
Google Scholar
Claassen DO, Parisi JE, Giannini C, Boeve BF, Dickson DW, Josephs KA (2008) Frontotemporal dementia mimicking dementia with Lewy bodies. Cogn Behav Neurol. 21:157–163
Article
PubMed
Google Scholar
Colom-Cadena M, Gelpi E, Charif S, Belbin O, Blesa R, Martí MJ et al (2013) Confluence of α-synuclein, tau, and β-amyloid pathologies in dementia with Lewy bodies. J Neuropathol Exp Neurol. 72:1203–1212
Article
CAS
PubMed
Google Scholar
Cruchaga C, Haller G, Chakraverty S, Mayo K, Vallania FLM, Mitra RD et al (2012) Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer’s disease families. PLoS One. 7:e31039
Article
CAS
PubMed
PubMed Central
Google Scholar
Cruts M, Gijselinck I, van der Zee J, Engelborghs S, Wils H, Pirici D et al (2006) Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature. 442:920–924
Article
CAS
PubMed
Google Scholar
Cruts M, Theuns J, Van Broeckhoven C (2012) Locus-specific mutation databases for neurodegenerative brain diseases. Hum Mutat. 33:1340–1344
Article
CAS
PubMed
PubMed Central
Google Scholar
DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C et al (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet. 43:491–498
Article
CAS
PubMed
PubMed Central
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
Article
PubMed
PubMed Central
CAS
Google Scholar
Falchetti A, Di Stefano M, Marini F, Del Monte F, Gozzini A, Masi L et al (2005) Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget’s disease of bone in an Italian family. Arthritis Res Ther. 7:R1289–R1295
Article
CAS
PubMed
PubMed Central
Google Scholar
Fernández MV, Kim JH, Budde JP, Black K, Medvedeva A, Saef B et al (2017) Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease. PLoS Genet. 13:e1007045
Article
PubMed
PubMed Central
CAS
Google Scholar
Forrest SL, Crockford DR, Sizemova A, McCann H, Shepherd CE, McGeachie AB et al (2019) Coexisting Lewy body disease and clinical parkinsonism in frontotemporal lobar degeneration. Neurology Available from: https://doi.org/10.1212/WNL.0000000000007530
Article
CAS
PubMed
Google Scholar
Guerreiro R, Escott-Price V, Darwent L, Parkkinen L, Ansorge O, Hernandez DG et al (2016) Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson’s and Alzheimer’s diseases. Neurobiol Aging 38:214.e7–214.e10
Article
CAS
Google Scholar
Guerreiro R, Ross OA, Kun-Rodrigues C, Hernandez DG, Orme T, Eicher JD et al (2018) Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study. Lancet Neurol. 17:64–74
Article
PubMed
Google Scholar
Guerreiro R, Sassi C, Gibbs JR, Edsall C, Hernandez D, Brown K, et al. A comprehensive assessment of benign genetic variability for neurodegenerative disorders. bioRxiv, 2018.
Hixson JE, Vernier DT (1990) Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J Lipid Res. 31:545–548
CAS
PubMed
Google Scholar
Hocking LJ, Lucas GJA, Daroszewska A, Cundy T, Nicholson GC, Donath J et al (2004) Novel UBA domain mutations of SQSTM1 in Paget’s disease of bone: genotype phenotype correlation, functional analysis, and structural consequences. J Bone Miner Res. 19:1122–1127
Article
CAS
PubMed
Google Scholar
Ikeuchi T, Kakita A, Shiga A, Kasuga K, Kaneko H, Tan C-F et al (2008) Patients homozygous and heterozygous for SNCA duplication in a family with parkinsonism and dementia. Arch Neurol. 65:514–519
Article
PubMed
Google Scholar
Jonsson T, Atwal JK, Steinberg S, Snaedal J, Jonsson PV, Bjornsson S et al (2012) A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline. Nature. 488:96–99
Article
CAS
PubMed
Google Scholar
Joutel A, Vahedi K, Corpechot C, Troesch A, Chabriat H, Vayssière C et al (1997) Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet. 350:1511–1515
Article
CAS
PubMed
Google Scholar
Karczewski KJ, Francioli LC, Tiao G, Cummings BB (2019) Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes. BioRxiv Available from: https://www.biorxiv.org/content/10.1101/531210v2.abstract
Kenna KP, McLaughlin RL, Byrne S, Elamin M, Heverin M, Kenny EM et al (2013) Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing. J Med Genet. 50:776–783
Article
CAS
PubMed
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
Article
CAS
PubMed
PubMed Central
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
Article
CAS
PubMed
PubMed Central
Google Scholar
Koide T, Ohtake H, Nakajima T, Furukawa H, Sakai K, Kamei H et al (2002) A patient with dementia with Lewy bodies and codon 232 mutation of PRNP. Neurology. 59:1619–1621
Article
CAS
PubMed
Google Scholar
Landrum MJ, Lee JM, Benson M, Brown G, Chao C, Chitipiralla S et al (2016) ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Res. 44:D862–D868
Article
CAS
PubMed
Google Scholar
Le Ber I, Camuzat A, Hannequin D, Pasquier F, Guedj E, Rovelet-Lecrux A et al (2008) Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. Brain. 131:732–746
Article
PubMed
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
Article
CAS
PubMed
PubMed Central
Google Scholar
Leverenz JB, Yu CE, Montine TJ, Steinbart E, Bekris LM, Zabetian C et al (2007) A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology. Brain. 130:1360–1374
Article
CAS
PubMed
Google Scholar
Liem MK, Lesnik SA, Vollebregt MJ, Middelkoop HAM, van der Grond J, den Enden ATJMH (2008) Homozygosity for a NOTCH3 mutation in a 65-year-old CADASIL patient with mild symptoms. J Neurol. Steinkopff-Verlag 255:1978–1980
Article
Google Scholar
Liu X, Jian X, Boerwinkle E (2013) dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations. Hum Mutat. 34:E2393–E2402
Article
CAS
PubMed
PubMed Central
Google Scholar
Mackenzie IR, Nicholson AM, Sarkar M, Messing J, Purice MD, Pottier C et al (2017) TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics. Neuron 95:808–16.e9
Article
CAS
PubMed
PubMed Central
Google Scholar
Maksemous N, Smith RA, Haupt LM, Griffiths LR (2016) Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients. Hum Genomics. 10:38
Article
PubMed
PubMed Central
CAS
Google Scholar
Marui W, Iseki E, Kato M, Akatsu H, Kosaka K (2004) Pathological entity of dementia with Lewy bodies and its differentiation from Alzheimer’s disease. Acta Neuropathol. 108:121–128
Article
PubMed
Google Scholar
McAleese KE, Walker L, Erskine D, Thomas AJ, McKeith IG, Attems J (2017) TDP-43 pathology in Alzheimer’s disease, dementia with Lewy bodies and ageing. Brain Pathol. 27:472–479
Article
CAS
PubMed
Google Scholar
McKeith IG, Dickson DW, Lowe J, Emre M, O’Brien JT, Feldman H et al (2005) Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium. Neurology. 65:1863–1872
Article
CAS
PubMed
Google Scholar
McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A et al (2010) The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20:1297–1303
Article
CAS
PubMed
PubMed Central
Google Scholar
Meeus B, Verstraeten A, Crosiers D, Engelborghs S, Van den Broeck M, Mattheijssens M et al (2012) DLB and PDD: a role for mutations in dementia and Parkinson disease genes? Neurobiol Aging 33:629.e5–629.e18
Article
CAS
Google Scholar
Nagahama Y, Fukui T (2019) Dementia with Lewy bodies presenting as frontotemporal dementia phenotype. Psychogeriatrics. Available from: https://doi.org/10.1111/psyg.12405
Article
PubMed
Google Scholar
Nalls MA, Duran R, Lopez G, Kurzawa-Akanbi M, McKeith IG, Chinnery PF et al (2013) A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol. 70:727–735
Article
PubMed
Google Scholar
Ogaki K, Koga S, Heckman MG, Fiesel FC, Ando M, Labbé C et al (2015) Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders. Neurology. 85:2016–2025
Article
CAS
PubMed
PubMed Central
Google Scholar
Ohtake H, Limprasert P, Fan Y, Onodera O, Kakita A, Takahashi H et al (2004) Beta-synuclein gene alterations in dementia with Lewy bodies. Neurology. 63:805–811
Article
CAS
PubMed
Google Scholar
Peacock ML, Warren JT Jr, Roses AD, Fink JK (1993) Novel polymorphism in the A4 region of the amyloid precursor protein gene in a patient without Alzheimer’s disease. Neurology. 43:1254–1256
Article
CAS
PubMed
Google Scholar
Pickering-Brown SM, Mann DM, Bourke JP, Roberts DA, Balderson D, Burns A et al (1994) Apolipoprotein E4 and Alzheimer’s disease pathology in Lewy body disease and in other beta-amyloid-forming diseases. Lancet. 343:1155
Article
CAS
PubMed
Google Scholar
Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MAR, Bender D et al (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 81:559–575
Article
CAS
PubMed
PubMed Central
Google Scholar
Rademakers R, Baker M, Gass J, Adamson J, Huey ED, Momeni P et al (2007) Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C→T (Arg493X) mutation: an international initiative. Lancet Neurol. 6:857–868
Article
CAS
PubMed
Google Scholar
Revuelta GJ, Rosso A, Lippa CF (2008) Association Between Progranulin and β-Amyloid in Dementia With Lewy Bodies. Am J Alzheimers Dis Other Demen 23:488–493
Article
PubMed
Google Scholar
Sekiguchi H, Moriwaki M, Iritani S, Habuchi C, Torii Y, Umeda K et al (2017) An autopsy case of dementia with Lewy bodies clinically diagnosed to have a behavioral variant of frontotemporal dementia. Clin Neuropathol. 2017(36):23–30
Article
Google Scholar
Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J et al (2017) Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer’s disease. Nat Genet. 49:1373–1384
Article
CAS
PubMed
PubMed Central
Google Scholar
Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J et al (2003) alpha-Synuclein locus triplication causes Parkinson’s disease. Science 302:841
Article
CAS
PubMed
Google Scholar
Singleton AB, Wharton A, O’Brien KK, Walker MP, McKeith IG, Ballard CG et al (2002) Clinical and neuropathological correlates of apolipoprotein E genotype in dementia with Lewy bodies. Dement Geriatr Cogn Disord. 14:167–175
Article
CAS
PubMed
Google Scholar
Stanford PM, Brooks WS, Teber ET, Hallupp M, McLean C, Halliday GM et al (2004) Frequency of tau mutations in familial and sporadic frontotemporal dementia and other tauopathies. J Neurol. 251:1098–1104
Article
CAS
PubMed
Google Scholar
Stenson PD, Mort M, Ball EV, Howells K, Phillips AD, Thomas NS et al (2009) The Human Gene Mutation Database: 2008 update. Genome Med. 1:13
Article
PubMed
PubMed Central
CAS
Google Scholar
Testi S, Malerba G, Ferrarini M, Ragno M, Pradotto L, Mauro A et al (2012) Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). J Neurol Sci. 319:37–41
Article
CAS
PubMed
Google Scholar
Tikka S, Mykkänen K, Ruchoux M-M, Bergholm R, Junna M, Pöyhönen M et al (2009) Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients. Brain. 132:933–939
Article
PubMed
PubMed Central
Google Scholar
Tsuang D, Leverenz JB, Lopez OL, Hamilton RL, Bennett DA, Schneider JA et al (2013) APOE ϵ4 Increases Risk for Dementia in Pure Synucleinopathies. JAMA Neurol 70:223–228
Article
PubMed
PubMed Central
Google Scholar
Van der Auwera GA, Carneiro MO, Hartl C, Poplin R, Del Angel G, Levy-Moonshine A et al (2013) From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline. Curr Protoc Bioinformatics. 43:11.10.1–11.1033
Article
Google Scholar
van der Lee SJ, Conway OJ, Jansen I, Carrasquillo MM, Kleineidam L, van den Akker E et al (2019) A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity. Acta Neuropathol. 138:237–250
Article
PubMed
PubMed Central
Google Scholar
Van Mossevelde S, Engelborghs S, van der Zee J, Van Broeckhoven C. Genotype–phenotype links in frontotemporal lobar degeneration. Nat Rev Neurol. 2018;14:363–378. Available from: doi: https://doi.org/10.1038/s41582-018-0009-8
Article
CAS
PubMed
Google Scholar
van Swieten JC, Heutink P (2008) Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia. Lancet Neurol. 7:965–974
Article
PubMed
CAS
Google Scholar
Whiffin N, Minikel E, Walsh R, O’Donnell-Luria AH, Karczewski K, Ing AY et al (2017) Using high-resolution variant frequencies to empower clinical genome interpretation. Genet Med. 19:1151–1158
Article
PubMed
PubMed Central
Google Scholar
Wu Q, Chen M, Buchwald M, Phillips RA (1995) A simple, rapid method for isolation of high quality genomic DNA from animal tissues. Nucleic Acids Res. 23:5087–5088
Article
CAS
PubMed
PubMed Central
Google Scholar
Yu C-E, Bird TD, Bekris LM, Montine TJ, Leverenz JB, Steinbart E et al (2010) The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration. Arch Neurol. 67:161–170
PubMed
PubMed Central
Google Scholar
Zarranz JJ, Alegre J, Gómez-Esteban JC, Lezcano E, Ros R, Ampuero I et al (2004) The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia. Ann Neurol. 55:164–173
Article
CAS
PubMed
Google Scholar