Advertisement

Towards a Molecular Classification of Neurodegenerative Disease

  • John Hardy
Conference paper
Part of the Research and Perspectives in Alzheimer's Disease book series (ALZHEIMER)

Keywords

Amyotrophic Lateral Sclerosis Prion Disease Motor Neuron Disease Familial Hemiplegic Migraine Lewy Body Dementia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Baker M, Litvan I, Houlden H, Adamson J, Dickson D, Perez-Tur J, Hardy J, Lynch T, Bigio E, Hutton M (1999) Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Human Mol Genet 8:711–715.CrossRefGoogle Scholar
  2. Bales KR, Verina T, Cummins DJ, Du Y, Dodel RC, Saura J, Fishman CE, DeLong CA, Piccardo P, Petegnief V, Ghetti B, Paul SM (1999) Apolipoprotein E is essential for amyloid deposition in the APP(V717F) transgenic mouse model of Alzheimer's disease. Proc Natl Acad Sci USA 96:15233–15238CrossRefPubMedGoogle Scholar
  3. Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, Dekker MC, Squitieri F, Ibanez P, Joosse M, van Dongen JW, Vanacore N, van Swieten JC, Brice A, Meco G, van Duijn CM, Oostra BA, Heutink P (2003) Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 299:256–259CrossRefPubMedGoogle Scholar
  4. Canet-Aviles RM, Wilson MA, Miller DW, Ahmad R, McLendon C, Bandyopadhyay S, Baptista MJ, Ringe D, Petsko GA, Cookson MR (2004) The Parkinson's disease protein DJ-1 is neuroprotective due to cysteine-sulfinic acid-driven mitochondrial localization. Proc Natl Acad Sci USA 101:9103–9108.CrossRefPubMedGoogle Scholar
  5. Chiba-Falek O, Nussbaum RL (2001) Effect of allelic variation at the NACP-Rep1 repeat upstream of the alpha-synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system. Human Mol Genet 10:3101–3109CrossRefGoogle Scholar
  6. Collinge J, Owen F, Poulter M, Leach M, Crow TJ, Rossor MN, Hardy J, Mullan MJ, Janota I, Lantos PL (1990) Prion dementia without characteristic pathology. Lancet 336:7–9.CrossRefPubMedGoogle Scholar
  7. Collinge J, Palmer MS, Dryden AJ (1991) Genetic predisposition to iatrogenic Creutzfeldt-Jakob disease. Lancet 337:1441–1442.CrossRefPubMedGoogle Scholar
  8. Corder EH, Saunders AM, Strittmatter WJ, Schmechel DE, Gaskell PC, Small GW, Roses AD, Haines JL, Pericak-Vance MA (1993) Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 261:921–923.PubMedGoogle Scholar
  9. Crook R, Verkkoniemi A, Perez-Tur J, Mehta N, Baker M, Houlden H, Farrer M, Hutton M, Lincoln S, Hardy J, Gwinn K, Somer M, Paetau A, Kalimo H, Ylikoski R, Poyhonen M, Kucera S, Haltia M (1998) A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1. Nature Med 4:452–455.CrossRefPubMedGoogle Scholar
  10. Davies SW, Sathasivam K, Hobbs C, Doherty P, Mangiarini L, Scherzinger E, Wanker EE, Bates GP (1999) Detection of polyglutamine aggregation in mouse models. Methods Enzymol 309:687–701.PubMedGoogle Scholar
  11. De Jonghe P, Auer-Grumbach M, Irobi J, Wagner K, Plecko B, Kennerson M, Zhu D, De Vriendt E, Van Gerwen V, Nicholson G, Hartung HP, Timmerman V (2002) Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder? Brain 125:1320–1325.CrossRefPubMedGoogle Scholar
  12. Dermaut B, Kumar-Singh S, Engelborghs S, Theuns J, Rademakers R, Saerens J, Pickut BA, Peeters K, van den Broeck M, Vennekens K, Claes S, Cruts M, Cras P, Martin JJ, VanBroeckhoven C, De Deyn PP (2004) A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. Ann Neurol 55:617–626.CrossRefPubMedGoogle Scholar
  13. Ertekin-Taner N, Graff-Radford N, Younkin LH, Eckman C, Baker M, Adamson J, Ronald J, Blangero J, Hutton M, Younkin SG (2000) Linkage of plasma Abeta42 to a quantitative locus on chromosome 10 in late-onset Alzheimer's disease pedigrees. Science 290:2303–2304.CrossRefPubMedGoogle Scholar
  14. Farrer M, Maraganore DM, Lockhart P, Singleton A, Lesnick TG, de Andrade M, West A, de Silva R, Hardy J, Hernandez D (2001) alpha-Synuclein gene haplotypes are associated with Parkinson's disease. Human Mol Genet 10:1847–1851CrossRefGoogle Scholar
  15. Foster NL, Wilhelmsen K, Sima AA, Jones MZ, D'Amato CJ, Gilman S (1997) Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Conference Participants. Ann Neurol 41:706–715.CrossRefPubMedGoogle Scholar
  16. Furtado S, Payami H, Lockhart PJ, Hanson M, Nutt JG, Singleton AA, Singleton A, Bower J, Utti RJ, Bird TD, de la Fuente-Fernandez R, Tsuboi Y, Klimek ML, Suchowersky O, Hardy J, Calne DB, Wszolek ZK, Farrer M, Gwinn-Hardy K, Stoessl AJ (2004) Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2). Mov Disord 19:622–629.CrossRefPubMedGoogle Scholar
  17. Gibb WR (1989) Dementia and Parkinson's disease. Br J Psychiat 154:596–614.Google Scholar
  18. Goate A, Chartier-Harlin MC, Mullan M, Brown J, Crawford F, Fidani L, Giuffra L, Haynes A, Irving N, James L, Mant R, Newton P, Rooke K, Roques P, Talbot C, Pericak-Vance M, Roses A, Williamson R, Rossor M, Owen M, Hardy J (1991) Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 349:704–706.CrossRefPubMedGoogle Scholar
  19. Golbe LI, Di Iorio G, Lazzarini A, Vieregge P, Gershanik OS, Bonavita V, Duvoisin RC (1999) The Contursi kindred, a large family with autosomal dominant Parkinson's disease: implications of clinical and molecular studies. Adv Neurol 80:165–170.PubMedGoogle Scholar
  20. Goldfarb LG, Petersen RB, Tabaton M, Brown P, LeBlanc AC, Montagna P, Cortelli P, Julien J, Vital C, Pendelbury WW, Haltia M; Willis PR; Hauw JJ; McKeever PE; Monari L; Schrank B; Swergold GD; Autilio-Gambetti L; Carleton Gajdusek D; Lugaresi E; Gambetti P (1992) Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. Science 258:806–808.PubMedGoogle Scholar
  21. Groeneveld GJ, Veldink JH, van der Tweel I, Kalmijn S, Beijer C, de Visser M, Wokke JH, Franssen H, van den Berg LH (2003) A randomized sequential trial of creatine in amyotrophic lateral sclerosis. Ann Neurol 53:437–445.CrossRefPubMedGoogle Scholar
  22. Gwinn-Hardy K, Chen JY, Liu HC, Liu TY, Boss M, Seltzer W, Adam A, Singleton A, Koroshetz W, Waters C, Hardy J, Farrer M (2000a) Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese. Neurology 55:800–805.PubMedGoogle Scholar
  23. Gwinn-Hardy K, Mehta ND, Farrer M, Maraganore D, Muenter M, Yen SH, Hardy J, Dickson DW (2000b) Distinctive neuropathology revealed by alpha-synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4p. Acta Neuropathol (Berl) 99:663–672.CrossRefPubMedGoogle Scholar
  24. Gwinn-Hardy K, Singleton A, O'Suilleabhain P, Boss M, Nicholl D, Adam A, Hussey J, Critchley P, Hardy J, Farrer M (2001) Spinocerebellar ataxia type 3 phenotypically resembling parkinson disease in a black family. Arch Neurol 58:296–299.CrossRefPubMedGoogle Scholar
  25. Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, Figlewicz DA, Kwiatkowski T, Hosler BA, Sagie T, Skaug J, Nasir J, Brown RH Jr, Scherer SW, Rouleau GA, Hayden MR, Ikeda JE (2001) A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nature Genet 29:166–173.CrossRefPubMedGoogle Scholar
  26. Hafezparast M, Klocke R, Ruhrberg C, Marquardt A, Ahmad-Annuar A, Bowen S, Lalli G, Witherden AS, Hummerich H, Nicholson S, Morgan PJ, Oozageer R, Priestley JV, Averill S, King VR, Ball S, Peters J, Toda T, Yamamoto A, Hiraoka Y, Augustin M, Korthaus D, Wattler S, Wabnitz P, Dickneite C, Lampel S, Boehme F, Peraus G, Popp A, Rudelius M, Schlegel J, Fuchs H, Hrabe de Angelis M, Schiavo G, Shima DT, Russ AP, Stumm G, Martin JE, Fisher EM (2003) Mutations in dynein link motor neuron degeneration to defects in retrograde transport. Science 300:808–812.CrossRefPubMedGoogle Scholar
  27. Hardy J (1994) Lewy bodies in Alzheimer's disease in which the primary lesion is a mutation in the amyloid precursor protein. Neurosci Lett 180:290–291CrossRefPubMedGoogle Scholar
  28. Hardy J (1997) Amyloid, the presenilins and Alzheimer's disease. Trends Neurosci 20:154–159.CrossRefPubMedGoogle Scholar
  29. Hardy J (2004) Toward Alzheimer therapies based on genetic knowledge. Annu Rev Med 55:15–25CrossRefPubMedGoogle Scholar
  30. Hardy J, Gwinn-Hardy K (1999) Neurodegenerative disease: a different view of diagnosis. Mol Med Today 5:514–517.CrossRefPubMedGoogle Scholar
  31. Hardy J, Duff K, Hardy KG, Perez-Tur J, Hutton M. Genetic dissection of Alzheimer's disease and related dementias: amyloid and its relationship to tau. Nature Neurosci 1:355–358.Google Scholar
  32. Hardy J, Singleton A, Gwinn-Hardy K (2003) Ethnic differences and disease phenotypes. Science 300:739–740.CrossRefPubMedGoogle Scholar
  33. Hattori N, Mizuno Y (2004) Pathogenetic mechanisms of parkin in Parkinson's disease. Lancet 364:722–724.CrossRefPubMedGoogle Scholar
  34. Heckmann JM, Low WC, de Villiers C, Rutherfoord S, Vorster A, Rao H, Morris CM, Ramesar RS, Kalaria RN (2004) Novel presenilin 1 mutation with profound neurofibrillary pathology in an indigenous Southern African family with early-onset Alzheimer's disease. Brain 127(Pt 1):133–142.CrossRefPubMedGoogle Scholar
  35. Houlden H, Baker M, McGowan E, Lewis P, Hutton M, Crook R, Wood NW, Kumar-Singh S, Geddes J, Swash M, Scaravilli F, Holton JL, Lashley T, Tomita T, Hashimoto T, Verkkoniemi A, Kalimo H, Somer M, Paetau A, Martin JJ, Van Broeckhoven C, Golde T, Hardy J, Haltia M, Revesz T (2000) Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations. Ann Neurol 48:806–808.CrossRefPubMedGoogle Scholar
  36. Houlden H, Collinge J, Kennedy A (1993) ApoE genotype and Alzheimer's disease. Lancet 342:737–738.CrossRefGoogle Scholar
  37. Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies P, Petersen RC, Stevens M, de Graaff E, Wauters E, van Baren J, Hillebrand M, Joosse M, Kwon JM, Nowotny P, Kueiche L, Norton J, Morris JC, Reed LA, Trojanowski J, Basun H, Lannfelt L, Neystat M, Fahn S, Dark F, Tannenberg T, Dodd PR, Hayward N, Kwok JBJ, Schofield PR, Andreadis A, Snowden J, Craufurd D, Neary D, Owen F, Oostra BA, Hardy B, Goate A, Van Swieten J, Mann D, Lynch T, Heutink P (1998) Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393:702–705CrossRefPubMedGoogle Scholar
  38. Kitada T, Asakawa S, Hattori N, Matsumine H, Yamamura Y, Minoshima S, Yokochi M, Mizuno Y, Shimizu N (1998) Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 392:605–608.CrossRefPubMedGoogle Scholar
  39. Klein C, Pramstaller PP, Kis B, Page CC, Kann M, Leung J, Woodward H, Castellan CC, Scherer M, Vieregge P, Breakefield XO, Kramer PL, Ozelius LJ (2000) Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype. Ann Neurol 48:65–71.CrossRefPubMedGoogle Scholar
  40. Klivenyi P, Ferrante RJ, Matthews RT, Bogdanov MB, Klein AM, Andreassen OA, Mueller G, Wermer M, Kaddurah-Daouk R, Beal MF (1999) Neuroprotective effects of creatine in a transgenic animal model of amyotrophic lateral sclerosis. Nature Med 5:347–350.CrossRefPubMedGoogle Scholar
  41. Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell WH, Yu CE, Jondro PD, Schmidt SD, Wang K, Crowley A, Fu YH, Guenette YS, Galas D, Nemens E, Wijsman EM, Bird TD, Schellenberg GD, Tanzi RE (1995) Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 269:973–977.PubMedGoogle Scholar
  42. Lewis J, Dickson DW, Lin WL, Chisholm L, Corral A, Jones G, Yen SH, Sahara N, Skipper L, Yager D, Eckman C, Hardy J, Hutton M, McGowan E (2001) Enhanced neurofibrillary degeneration in transgenic mice expressing mutant tau and APP. Science 293:1487–1491.CrossRefPubMedGoogle Scholar
  43. Lewis J, McGowan E, Rockwood J, Melrose H, Nacharaju P, Van Slegtenhorst M, Gwinn-Hardy K, Paul Murphy M, Baker M, Yu X, Duff K, Hardy J, Corral A, Lin WL, Yen SH, Dickson DW, Davies P, Hutton M (2000) Neurofibrillary tangles, amyotrophy and progressive motor disturbance in mice expressing mutant (P301L) tau protein. Nature Genet 25:402–405. Erratum in: Nature Genet (2000) 26:127CrossRefPubMedGoogle Scholar
  44. Lippa CF, Schmidt ML, Lee VM, Trojanowski JQ (2001) Alpha-synuclein in familial Alzheimer disease: epitope mapping parallels dementia with Lewy bodies and Parkinson disease. Arch Neurol 58:1817–1820.CrossRefPubMedGoogle Scholar
  45. Lippa CF, Smith TW, Saunders AM, Crook R, Pulaski-Salo D, Davies P, Hardy J, Roses AD, Dickson D (1995) Apolipoprotein E genotype and Lewy body disease. Neurology 45:97–103PubMedGoogle Scholar
  46. Lloyd SE, Onwuazor ON, Beck JA, Mallinson G, Farrall M, Targonski P, Collinge J, Fisher EM (2001) Identification of multiple quantitative trait loci linked to prion disease incubation period in mice. Proc Natl Acad Sci USA 98:6279–6283CrossRefPubMedGoogle Scholar
  47. Lucking CB, Durr A, Bonifati V, Vaughan J, De Michele G, Gasser T, Harhangi BS, Meco G, Denefle P, Wood NW, Agid Y, Brice A (2000) Association between early-onset Parkinson's disease and mutations in the parkin gene. French Parkinson's Disease Genetics Study Group. N Engl J Med 342:1560–1567.CrossRefPubMedGoogle Scholar
  48. Masliah E, Rockenstein E, Veinbergs I, Mallory M, Hashimoto M, Takeda A, Sagara Y, Sisk A, Mucke L (2000) Dopaminergic loss and inclusion body formation in alpha-synuclein mice: implications for neurodegenerative disorders. Science 287:1265–129.CrossRefPubMedGoogle Scholar
  49. Masliah E, Rockenstein E, Veinbergs I, Sagara Y, Mallory M, Hashimoto M, Mucke L (2001)-amyloid peptides enhance alpha-synuclein accumulation and neuronal deficits in a transgenic mouse model linking Alzheimer's disease and Parkinson's disease. Proc Natl Acad Sci USA 98:12245–12250CrossRefPubMedGoogle Scholar
  50. McKeith IG, Galasko D, Kosaka K, Perry EK, Dickson DW, Hansen LA, Salmon DP, Lowe J, Mirra SS, Byrne EJ, Lennox G, Quinn NP, Edwardson JA, Ince PG, Bergeron C, Burns A, Miller BL, Lovestone S, Collerton D, Jansen EN, Ballard C, de Vos RA, Wilcock GK, Jellinger KA, Perry RH (1996) Consensus guidelines for the clinical and pathologic diagnosis of dementia with Lewy bodies (DLB): report of the consortium on DLB international workshop. Neurology 47:1113–1124PubMedGoogle Scholar
  51. Mead S, Mahal SP, Beck J, Campbell T, Farrall M, Fisher E, Collinge J (2001) Sporadic—but not variant-Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1. Am J Human Genet 69:1225–1235CrossRefGoogle Scholar
  52. Medori R, Tritschler HJ, LeBlanc A, Villare F, Manetto V, Chen HY, Xue R, Leal S, Montagna P, Cortelli P, Tinuper P, Avoni P, Mochi M, Baruzzi A, Hauw JJ, Ott J, Lugaresi E, Autilio-Gambetti L, Gambetti P (1992) Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene. N Engl J Med 326:444–449PubMedGoogle Scholar
  53. Muenter MD, Forno LS, Hornykiewicz O, Kish SJ, Maraganore DM, Caselli RJ, Okazaki H, Howard FM Jr, Snow BJ, Calne DB (1998) Hereditary form of parkinsonism-dementia. Ann Neurol 43:768–781.CrossRefPubMedGoogle Scholar
  54. Murayama O, Tomita T, Nihonmatsu N, Murayama M, Sun X, Honda T, Iwatsubo T, Takashima A (1999) Enhancement of amyloid beta 42 secretion by 28 different presenilin 1 mutations of familial Alzheimer's disease. Neurosci Lett 265:61–63CrossRefPubMedGoogle Scholar
  55. Myers A, Holmans P, Marshall H, Kwon J, Meyer D, Ramic D, Shears S, Booth J, DeVrieze FW, Crook R, Hamshere M, Abraham R, Tunstall N, Rice F, Carty S, Lillystone S, Kehoe P, Rudrasingham V, Jones L, Lovestone S, Perez-Tur J, Williams J, Owen MJ, Hardy J, Goate AM (2000) Susceptibility locus for Alzheimer's disease on chromosome 10. Science 290:2304–2305.CrossRefPubMedGoogle Scholar
  56. Olson MI, Shaw CM (1969) Presenile dementia and Alzheimer's disease in mongolism. Brain 92:147–156.PubMedGoogle Scholar
  57. Ophoff RA, Terwindt GM, Vergouwe MN, van Eijk R, Oefner PJ, Hoffman SM, Lamerdin JE, Mohrenweiser HW, Bulman DE, Ferrari M, Haan J, Lindhout D, van Ommen GJ, Hofker MH, Ferrari MD, Frants RR (1996) Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 87:543–552.CrossRefPubMedGoogle Scholar
  58. Owen F, Poulter M, Lofthouse R, Collinge J, Crow TJ, Risby D, Baker HF, Ridley RM, Hsiao K, Prusiner SB (1989) Insertion in prion protein gene in familial Creutzfeldt-Jakob disease. Lancet 1:51–52.CrossRefGoogle Scholar
  59. Owen F, Poulter M, Shah T, Collinge J, Lofthouse R, Baker H, Ridley R, McVey J, Crow TJ (1990) An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease. Brain Res Mol Brain Res 7:273–276.CrossRefPubMedGoogle Scholar
  60. Palmer MS, Dryden AJ, Hughes JT, Collinge J (1991) Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease. Nature 352:340–342.CrossRefPubMedGoogle Scholar
  61. Pastor P, Roe CM, Villegas A, Bedoya G, Chakraverty S, Garcia G, Tirado V, Norton J, Rios S, Martinez M, Kosik KS, Lopera F, Goate AM (2003) Apolipoprotein Eepsilon4 modifies Alzheimer's disease onset in an E280A PS1 kindred. Ann Neurol 54:163–169.CrossRefPubMedGoogle Scholar
  62. Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL (1997) Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 276:2045–2047.CrossRefPubMedGoogle Scholar
  63. Poorkaj P, Bird TD, Wijsman E, Nemens E, Garruto RM, Anderson L, Andreadis A, Wiederholt WC, Raskind M, Schellenberg GD (1998) Tau is a candidate gene for chromosome 17 fronto-temporal dementia. Ann Neurol 43:815–825.CrossRefPubMedGoogle Scholar
  64. Prasher VP, Farrer MJ, Kessling AM, Fisher EM, West RJ, Barber PC, Butler AC (1998) Molecular mapping of Alzheimer-type dementia in Down's syndrome. Ann Neurol 43:380–383.CrossRefPubMedGoogle Scholar
  65. Prusiner SB (1998) Prions. Proc Natl Acad Sci USA 95:13363–13383.CrossRefPubMedGoogle Scholar
  66. Puls I, Jonnakuty C, LaMonte BH, Holzbaur EL, Tokito M, Mann E, Floeter MK, Bidus K, Drayna D, Oh SJ, Brown RH Jr, Ludlow CL, Fischbeck KH (2003) Mutant dynactin in motor neuron disease. Nature Genet 33:455–456.CrossRefPubMedGoogle Scholar
  67. Pulst SM (2003) Neurogenetics: single gene disorders. J Neurol Neurosurg Psychiat 74:1608–1614CrossRefPubMedGoogle Scholar
  68. Rippon GA, Crook R, Baker M, Halvorsen E, Chin S, Hutton M, Houlden H, Hardy J, Lynch T (2003) Presenilin 1 mutation in an african american family presenting with atypical Alzheimer dementia. Arch Neurol 60:884–888.CrossRefPubMedGoogle Scholar
  69. Rogaev EI, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, Liang Y, Chi H, Lin C, Holman K, Tsuda T, Mar L, Sorbi S, Nacmias B, Placentini S, Amaducci L, Chumakov I, Cohen D, Lannfelt L, Fraser PE, Rommens JM, St George-Hyslop PH. (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.CrossRefPubMedGoogle Scholar
  70. Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O'Regan JP, Deng HX, Rahmani Z, Krizus A, McKenna-Yasek D, Cayabyab A, Gaston SM, Berger R, Tanzi RE, Halperin JJ, Herzfeldt B, Van den Bergh R, Hung WY, Bird T, Deng G, Mulder DW, Smyth C, Laing NG, Soriano E, Pericak-Vance MA, Haines J, Rouleau GA, Gusella JS, Horvitz HR, Brown RH (1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362:59–62.CrossRefPubMedGoogle Scholar
  71. Scheuner D, Eckman C, Jensen M, Song X, Citron M, Suzuki N, Bird TD, Hardy J, Hutton M, Kukull W, Larson E, Levy-Lahad E, Viitanen M, Peskind E, Poorkaj P, Schellenberg G, Tanzi R, Wasco W, Lannfelt L, Selkoe D, Younkin S (1996) Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease. Nature Med 2:864–870.CrossRefPubMedGoogle Scholar
  72. Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, Chi H, Lin C, Li G, Holman K, Tsuda T, Mar L, Foncin JF, Bruni AC, Montesi MP, Sorbi S, Rainero I, Pinessi L, Nee L, Chumakov I, Pollen D, Brookes A, Sanseau P, Polinsky RJ, Wasco W, Da Silva HAR, Haines JL, Pericak-Vance MA, Tanzi RE, Roses AD, Fraser PE, Rommens JM, St George-Hyslop PH (1995) Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 375:754–760.CrossRefPubMedGoogle Scholar
  73. Shimura H, Hattori N, Kubo S, Mizuno Y, Asakawa S, Minoshima S, Shimizu N, Iwai K, Chiba T, Tanaka K, Suzuki T (2000) Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. Nature Genet 25:302–305.CrossRefPubMedGoogle Scholar
  74. Shimura H, Schlossmacher MG, Hattori N, Frosch MP, Trockenbacher A, Schneider R, Mizuno Y, Kosik KS, Selkoe DJ (2001) Ubiquitination of a new form of alpha-synuclein by parkin from human brain: implications for Parkinson's disease. Science 293:263–269.CrossRefPubMedGoogle Scholar
  75. Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R, Lincoln S, Crawley A, Hanson M, Maraganore D, Adler C, Cookson MR, Muenter M, Baptista M, Miller D, Blancato J, Hardy J, Gwinn-Hardy K (2003) α-Synuclein locus triplication causes Parkinson's disease. Science 302:841CrossRefPubMedGoogle Scholar
  76. Singleton A, Myers A, Hardy J (2004) The law of mass action applied to neurodegenerative disease: a hypothesis concerning the etiology and pathogenesis of complex diseases. Human Mol Genet 13 Spec No 1:R123–126.CrossRefGoogle Scholar
  77. Spillantini MG, Bird TD, Ghetti B (1998) Frontotemporal dementia and Parkinsonism linked to chromosome 17: a new group of tauopathies. Brain Pathol 8:387–402.PubMedGoogle Scholar
  78. Subramony SH, Hernandez D, Adam A, Smith-Jefferson S, Hussey J, Gwinn-Hardy K, Lynch T, McDaniel O, Hardy J, Farrer M, Singleton A (2002) Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians. Mov Disord 17:1068–1071CrossRefPubMedGoogle Scholar
  79. Tang-Wai D, Lewis P, Boeve B, Hutton M, Golde T, Baker M, Hardy J, Michels V, Ivnik R, Jack C, Petersen R (2002) Familial frontotemporal dementia associated with a novel presenilin-1 mutation. Dement Geriatr Cogn Disord 14:13–21.CrossRefPubMedGoogle Scholar
  80. Togo T, Sahara N, Yen SH, Cookson N, Ishizawa T, Hutton M, de Silva R, Lees A, Dickson DW (2002) Argyrophilic grain disease is a sporadic 4-repeat tauopathy. J Neuropathol Exp Neurol 61:547–556.PubMedGoogle Scholar
  81. Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, Gonzalez-Maldonado R, Deller T, Salvi S, Cortelli P, Gilks WP, Latchman DS, Harvey RJ, Dallapiccola B, Auburger G, Wood NW (2004) Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 304:1158–1160.CrossRefPubMedGoogle Scholar
  82. Walker RH, Friedman J, Wiener J, Hobler R, Gwinn-Hardy K, Adam A, DeWolfe J, Gibbs R, Baker M, Farrer M, Hutton M, Hardy J (2002) A family with a tau P301L mutation presenting with parkinsonism. Parkinsonism Relat Disord 9:121–123.CrossRefPubMedGoogle Scholar
  83. Wavrant-De Vrieze F, Crook R, Holmans P, Kehoe P, Owen MJ, Williams J, Roehl K, Laliiri DK, Shears S, Booth J, Wu W, Goate A, Chartier-Harlin MC, Hardy J, Perez-Tur J (1999) Genetic variability at the amyloid-beta precursor protein locus may contribute to the risk of late-onset Alzheimer's disease. Neurosci Lett 269:67–70.CrossRefPubMedGoogle Scholar
  84. Wolfe MS, Xia W, Ostaszewski BL, Diehl TS, Kimberly WT, Selkoe DJ (1999) Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and gamma-secretase activity. Nature 398:513–517CrossRefPubMedGoogle Scholar
  85. Woodruff BK, Baba Y, Hutton ML, Wszolek ZK, Tsuboi Y, Kobayashi T, Ghetti B, Arima K, Yasuda M, Rascol O (2004) Haplotype-phenotype correlations in kindreds with the N279K mutation in the tau gene. Arch Neurol 61:1327CrossRefPubMedGoogle Scholar
  86. Yang Y, Hentati A, Deng HX, Dabbagh O, Sasaki T, Hirano M, Hung WY, Ouahchi K, Yan J, Azim AC, Cole N, Gascon G, Yagmour A, Ben-Hamida M, Pericak-Vance M, Hentati F, Siddique T (2001) The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nature Genet 29:160–165.CrossRefPubMedGoogle Scholar
  87. Zarranz JJ, Alegre J, Gomez-Esteban JC, Lezcano E, Ros R, Ampuero I, Vidal L, Hoenicka J, Rodriguez O, Atares B, Llorens V, Gomez Tortosa E, del Ser T, Munoz DG, de Yebenes JG (2004) The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia. Ann Neurol 55:164–173.CrossRefPubMedGoogle Scholar
  88. Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC (1997) Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha(1A)-voltage-dependent calcium channel. Nature Genet 15:62–69CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2005

Authors and Affiliations

  • John Hardy
    • 1
  1. 1.Laboratory of Neurogenetics, National Institute on AgingNational Institutes of HealthBethesdaUSA

Personalised recommendations