Advertisement

Phenotype/genotype correlations in Parkinson's disease

  • Alexis Brice
  • Ebba Lohmann
  • Pablo Ibanez
  • Magali Periquet
  • Sophie Laine
  • Béatrice Debarges
  • Suzanne Lesage
  • Alexandra Dürr
Conference paper
Part of the Research and Perspectives in Alzheimer's Disease book series (ALZHEIMER)

Keywords

Dementia With Lewy Body Autosomal Recessive Parkin Gene Parkin Mutation Autosomal Recessive Juvenile Parkinsonism 
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. Abbas N, Lücking CB, Ricard S, Durr A, Bonifati V, De Michele G, Bouley S, Vaughan JR, Gasser T, Marconi R, Broussolle E, Brefel-Courbon C, Harhangi BS, Oostra BA, Fabrizio E, Bohme GA, Pradier L, Wood NW, Filla A, Meco G, Denefle P, Agid Y, Brice A (1999) A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. Human Mol Genet 8:567–574.CrossRefGoogle Scholar
  2. Athanassiadou A, Voutsinas G, Psiouri L, Leroy E, Polymeropoulos MH, Ilias A, Maniatis GM, Papapetropoulos T (1999) Genetic analysis of families with Parkinson disease that carry the Ala53Thr mutation in the gene encoding alpha-synuclein. Am J Human Genet 65:555–558.CrossRefGoogle Scholar
  3. Bonifati V, Rizzu P, Van Baren M.J, Cshaap O, Breedveld GJ, Krieger E, Dekker MCJ, 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 299:256–259.CrossRefPubMedGoogle Scholar
  4. Bostantjopoulou S, Katsarou Z, Papadimitriou A, Veletza V, Hatzigeorgiou G, Lees A (2001) Clinical features of parkinsonian patients with the alpha-synuclein (G209A) mutation. Mov Disord 16:1007–1013.CrossRefPubMedGoogle Scholar
  5. Chartier-Harlin MC, Kachergus J, Roumier C, Mouroux V, Douay X, Lincoln S, Levecque C, Larvor L, Andrieux J, Hulihan M, Waucquier N, Defebvre L, Amouyel P, Farrer M, Destée A (2004) Alpha-synuclein locus duplication causes familial Parkinson s disease. Lancet 364:1167–1169CrossRefPubMedGoogle Scholar
  6. Farrer M, Chan P, Chen R, Tan L, Lincoln S, Hernandez D, Forno L, Gwinn-Hardy K, Petrucelli L, Hussey J, Singleton A, Tanner C, Hardy J, Langston JW (2001) Lewy bodies and parkinsonism in families with parkin mutations. Ann Neurol 50:293–300.CrossRefPubMedGoogle Scholar
  7. Farrer M, Kachergus J, Forno L, Lincoln S, Wang DS, Hulihan M, Maraganore D, Gwinn-Hardy K, Wszolek Z, Dickson D, Langston JW (2004) Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications. Ann Neurol 55:174–179.CrossRefPubMedGoogle Scholar
  8. Foroud T, Uniacke SK, Liu L, Pankratz N, Rudolph A, Halter C, Shults C, Marder K, Conneally PM, Nichols WC; Parkinson Study Group (2003) Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease. Neurology 60:796–801.PubMedGoogle Scholar
  9. Funayama M, Hasegawa K, Kowa H, Saito M, Tsuji S, Obata F (2002) A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2–q13.1. Ann Neurol 51:296–301.CrossRefPubMedGoogle Scholar
  10. Gasser T, Muller-Myhsok B, Wszolek ZK, Oehlmann R, Calne DB, Bonifati V, Bereznai B, Fabrizio E, Vieregge P, Horstmann RD (1998) A susceptibility locus for Parkinson's disease maps to chromosome 2p13. Nature Genet 18:262–265.CrossRefPubMedGoogle Scholar
  11. Goedert M, Spillantini MG (1998) Lewy body diseases and multiple system atrophy as alphasynucleinopathies. Mol Psychiatr 3:462–465.CrossRefGoogle Scholar
  12. Golbe LI, Di Iorio G, Sanges G, Lazzarini AM, La Sala S, Bonavita V, Duvoisin RC (1996) Clinical genetic analysis of Parkinson's disease in the Contursi kindred. Ann Neurol 40:767–775.CrossRefPubMedGoogle Scholar
  13. Gouider-Khouja N, Larnaout A, Amouri R, Sfar S, Belal S, Ben Hamida C, Ben Hamida M, Hattori N, Mizuno Y, Hentati F (2003) Autosomal recessive parkinsonism linked to parkin gene in a Tunisian family. Clinical, genetic and pathological study. Parkinsonism Relat Disord 9:247–251.CrossRefPubMedGoogle Scholar
  14. Hardy J, Cookson MR, Singleton A (2003) Genes and parkinsonism. Lancet Neurol 2:221–228.CrossRefPubMedGoogle Scholar
  15. Hattori N, Kitada T, Matsumine H, Asakawa S, Yamamura Y, Yoshino H, Kobayashi T, Yokochi M, Wang M, Yoritaka A, Kondo T, Kuzuhara S, Nakamura S, Shimizu N, Mizuno Y (1998) Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: evidence for variable homozygous deletions in the Parkin gene in affected individuals. Ann Neurol 44:935–941.CrossRefPubMedGoogle Scholar
  16. Hayashi S, Wakabayashi K, Ishikawa A, Nagai H, Saito M, Maruyama M, Takahashi T, Ozawa T, Tsuji S, Takahashi H (2000) An autopsy case of autosomal-recessive juvenile parkinsonism with a homozygous exon 4 deletion in the parkin gene. Mov Disord 15:884–888.CrossRefPubMedGoogle Scholar
  17. Hedrich K, Kann M, Lanthaler AJ, Dalski A, Eskelson C, Landt O, Schwinger E, Vieregge P, Lang AE, Breakefield XO, Ozelius LJ, Pramstaller PP, Klein C (2001) The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. Human Mol Genet 10:1649–1656.CrossRefGoogle Scholar
  18. Hedrich K, Marder K, Harris J, Kann M, Lynch T, Meija-Santana H, Pramstaller PP, Schwinger E, Bressman SB, Fahn S, Klein C (2002) Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations. Neurology 58:1239–1246PubMedGoogle Scholar
  19. Hicks AA, Petursson H, Jonsson T, Stefansson H, Johannsdottir HS, Sainz J, Frigge ML, Kong A, Gulcher JR, Stefansson K, Sveinbjornsdottir S (2002) A susceptibility gene for late-onset idiopathic Parkinson's disease. Ann Neurol 52:549–555.CrossRefPubMedGoogle Scholar
  20. Ibáñez P, Bonnet AM, Debarges B, Lohmann E, Tison F, Pollak P, Agid Y, Dürr A, Brice A, and the French Parkinson's Disease Genetics Study Group (2004) Alpha-synuclein gene duplication is responsible for Parkinson's disease. Lancet 364:1169–1171CrossRefPubMedGoogle Scholar
  21. Jones AC, Yamamura Y, Almasy L, Bohlega S, Elibol B, Hubble J, Kuzuhara S, Uchida M, Yanagi T, Weeks DE, Nygaard TG. Autosomal recessive juvenile parkinsonism maps to 6q25.2–q27 in four ethnic groups: detailed genetic mapping of the linked region. Am J Human Genet 1998; 63:80–87.CrossRefGoogle Scholar
  22. Kann M, Jacobs H, Mohrmann K, Schumacher K, Hedrich K, Garrels J, Wiegers K, Schwinger E, Pramstaller PP, Breakefield XO, Ozelius LJ, Vieregge P, Klein C (2002) Role of parkin mutations in 111 community-based patients with early-onset parkinsonism. Ann Neurol 51:621–625.CrossRefPubMedGoogle Scholar
  23. Khan NL, Graham E, Critchley P, Schrag AE, Wood NW, Lees AJ, Bhatia KP, Quinn N (2003) Parkin disease: a phenotypic study of a large case series. Brain 126:1279–1292.CrossRefPubMedGoogle Scholar
  24. 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
  25. 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
  26. Klein C, Hedrich K, Wellenbrock C, Kann M, Harris J, Marder K, Lang AE, Schwinger E, Ozelius LJ, Vieregge P, Pramstaller PP, Kramer PL (2003) Frequency of parkin mutations in late-onset Parkinson's disease. Ann Neurol 54:415–416CrossRefGoogle Scholar
  27. Kruger R, Kuhn W, Leenders KL, Sprengelmeyer R, Muller T, Woitalla D, Portman AT, Maguire RP, Veenma L, Schroder U, Schols L, Epplen JT, Riess O, Przuntek H (2001) Familial parkinsonism with synuclein pathology: clinical and PET studies of A30P mutation carriers. Neurology 56:1355–1362.PubMedGoogle Scholar
  28. Kuroda Y, Mitsui T, Akaike M, Azuma H, Matsumoto T (2001) Homozygous deletion mutation of the parkin gene in patients with atypical parkinsonism. J Neurol Neurosurg Psychiatr 71:231–234CrossRefPubMedGoogle Scholar
  29. Lansbury, PT Jr, Brice A (2002) Genetics of Parkinson's disease and biochemical studies of implicated gene products. Cur Opin Genet Dev 12: 299–306.CrossRefGoogle Scholar
  30. Le WD, Xu P, Jankovic J, Jiang H, Appel SH, Smith RG, Vassilatis DK (2003) Mutations in NR4A2 associated with familial Parkinson disease. Nature Genet; 33:85–89.CrossRefPubMedGoogle Scholar
  31. Leroy E, Boyer R, Auburger G, Leube B, Ulm G, Mezey E, Harta G, Brownstein MJ, Jonnalagada S, Chernova T, Dehejia A, Lavedan C, Gasser T, Steinbach PJ, Wilkinson KD, Polymeropoulos MH (1998) The ubiquitin pathway in Parkinson's disease. Nature 395:451–452.CrossRefPubMedGoogle Scholar
  32. Lincoln SJ, Maraganore DM, Lesnick TG, Bounds R, de Andrade M, Bower JH, Hardy JA, Farrer MJ (2003) Parkin variants in North American Parkinson's disease: cases and controls. Mov Disord 18:1306–1311.CrossRefPubMedGoogle Scholar
  33. Lohmann E, Periquet M, Bonifati V, Wood N, De Michele G, Bonnet AM, Fraix V, Broussolle E, Horstink MWIM, Vidailhet M, Verpillat P, Gasser T, Nicholl D, Teive H, Raskin S, Rascol O, Destée A, Ruberg M, Gasparini F, Meco G, Agid Y, Dürr A, Brice A (2003) Phenotypic variation of Parkin. Ann Neurol 54:176–185.CrossRefPubMedGoogle Scholar
  34. Lücking CB, Abbas N, Durr A, Bonifati V, Bonnet AM, de Broucker T, De Michele G, Wood NW, Agid Y, Brice A (1998) Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism. The European Consortium on Genetic Susceptibility in Parkinson's Disease and the French Parkinson's Disease Genetics Study Group. Lancet 352:1355–1356.CrossRefPubMedGoogle Scholar
  35. Lücking CB, Dürr A, Bonifati V, Vaughan J, De Michele G, Gasser T, Harhangi BS, Meco G, Denefle P, Wood NW, Agid Y, Brice A, the European Consortium on Genetic Susceptibility in Parkinson's Disease and the French Parkinson's Disease Genetics Study Group. (2000) Early onset parkinsonism and parkin gene mutations. New Engl J Med 342:1560–1567.CrossRefPubMedGoogle Scholar
  36. Lücking CB, Brice A (2003) Semiquantitative PCR for the detection of exon rearrangements in the Parkin gene. Meth Mol Biol 217:13–26.Google Scholar
  37. Martinez M, Brice A, Vaughan J, Zimprich A, Breteler MMB, Meco G, Filla A, Farrer M, Bétard C, hardy J, De Michele G, Bonifati V, Oostra B, Gasser T, Wood NW, Durr A (2004) Genome-wide scan linkage analysis for Parkinson's disease: the European Genetic Study of Parkinson's Disease. J Med Genet 41:900–907CrossRefPubMedGoogle Scholar
  38. Matsumine H, Saito M, Shimoda-Matsubayashi S, Tanaka H, Ishikawa A, Nakagawa-Hattori Y, Yokochi M, Kobayashi T, Igarashi S, Takano H, Sanpei K, Koike R, Mori H, Kondo T, Mizutani Y, Schaffer AA, Yamamura Y, Nakamura S, Kuzuhara S, Tsuji S, Mizuno Y. (1997) Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2–27. Am J Human Genet 60:588–596.Google Scholar
  39. Miller DW, Hague SM, Clarimon J, Baptista M, Gwinn-Hardy K, Cookson MR, Singleton AB (2004) Alpha-synuclein in blood and brain from familial Parkinson disease with SNCA locus triplication. Neurology 62:1835–1838.PubMedGoogle Scholar
  40. Morales B, Martinez A, Gonzalo I, Vidal L, Ros R, Gomez-Tortosa E, Rabano A, Ampuero I, Sanchez M, Hoenicka J, Garcia De Yebenes J (2002) Steele-Richardson-Olszewski syndrome in a patient with a single C212Y mutation in the parkin protein. Mov Disord 17:1374–1380.CrossRefPubMedGoogle Scholar
  41. Mori H, Kondo T, Yokochi M, Matsumine H, Nakagawa-Hattori Y, Miyake T, Suda K, Mizuno Y (1998) Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q. Neurology 51:890–892PubMedGoogle Scholar
  42. 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
  43. Nichols WC, Pankratz N, Uniacke SK, Pauciulo MW, Halter C, Rudolph A, Conneally PM, Foroud T (2002) Linkage stratification and mutation analysis at the parkin locus identifies mutation positive Parkinson's disease families. J Med Genet 39:489–492CrossRefPubMedGoogle Scholar
  44. Oliveira SA, Scott WK, Martin ER, Nance MA, Watts RL, Hubble JP, Koller WC, Pahwa R, Stern MB, Hiner BC, Ondo WG, Allen FH Jr, Scott BL, Goetz CG, Small GW, Mastaglia F, Stajich JM, Zhang F, Booze MW, Winn MP, Middleton LT, Haines JL, Pericak-Vance MA, Vance JM (2003) Parkin mutations and susceptibility alleles in late-onset Parkinson's disease. Ann Neurol 53:624–629.CrossRefPubMedGoogle Scholar
  45. Oliveri RL, Zappia M, Annesi G, Bosco D, Annesi F, Spadafora P, Pasqua AA, Tomaino C, Nicoletti G, Pirritano D, Labate A, Gambardella A, Logroscino G, Manobianca G, Epifanio A, Morgante L, Savettieri G, Quattrone A (2001) The parkin gene is not involved in late-onset Parkinson's disease. Neurology 57:359–362.CrossRefPubMedGoogle Scholar
  46. Papapetropoulos S, Paschalis C, Athanassiadou A, Papadimitriou A, Ellul J, Polymeropoulos MH, Papapetropoulos T (2001) Clinical phenotype in patients with alpha-synuclein Parkinson's disease living in Greece in comparison with patients with sporadic Parkinson's disease. J Neurol Neurosurg Psychiat 70:662–665.CrossRefPubMedGoogle Scholar
  47. Periquet M, Lücking CB, Vaughan JR, Bonifati V, Dürr A, De Michele G, Horstink NW, Farrer M, Illarioshkin S, Pollak P, Borg M, Brefel-Courbon C, Denefle P, Meco G, Gasser T, Breteler MMB, Wood NW, Agid Y, Brice A, the French Parkinson s disease Genetic Study Group and the European Consortium on Genetic Susceptibility in Parkinson s disease. (2001) Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events whereas point mutations may result from founder effects. Am J Human Genet 68: 617–626.CrossRefGoogle Scholar
  48. Periquet M, Latouche M, Lohmann E, Rawal N, De Michele G, Ricard S, Teive H, Fraix V, Vidailhet M, Nicholl D, Wood NW, Raskin S, Deleuze JF, Agid Y, Dürr A, Brice A, for the French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. (2003) Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain 126:1271–1278.CrossRefPubMedGoogle Scholar
  49. 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
  50. Pramstaller PP, Kunig G, Leenders K, Kann M, Hedrich K, Vieregge P, Goetz CG, Klein C (2002) Parkin mutations in a patient with hemiparkinsonism-hemiatrophy: a clinical-genetic and PET study. Neurology 58:808–810.PubMedGoogle Scholar
  51. Rawal N, Periquet M, Lohmann E, Lücking CB, Teive HA, Ambrosio G, Raskin S, Lincoln S, Hattori N, Guimaraes J, Horstink MWIM, Dos Santos Bele W, Broussolle E, Destee A, Mizuno Y, Farrer M, Deleuze JF, De Michele G, Agid Y, Dürr A, Brice A, the French Parkinson s Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's disease. (2003) New Parkin gene mutations and atypical phenotypes in families with autosomal recessive parkinsonism. Neurology 60: 1378–1381.PubMedGoogle Scholar
  52. 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) alpha-Synuclein locus triplication causes Parkinson's disease. Science 302:841.CrossRefPubMedGoogle Scholar
  53. Spira PJ, Sharpe DM, Halliday G, Cavanagh J, Nicholson GA (2001) Clinical and pathological features of a Parkinsonian syndrome in a family with an Ala53Thr alpha-synuclein mutation. Ann Neurol 49:313–319.CrossRefPubMedGoogle Scholar
  54. Takahashi H, Ohama E, Suzuki S, Horikawa Y, Ishikawa A, Morita T, Tsuji S, Ikuta F (1994) Familial juvenile parkinsonism: clinical and pathologic study in a family. Neurology 44:437–441.PubMedGoogle Scholar
  55. Tassin J, Durr A, de Broucker T, Abbas N, Bonifati V, De Michele G, Bonnet AM, Broussolle E, Pollak P, Vidailhet M, De Mari M, Marconi R, Medjbeur S, Filla A, Meco G, Agid Y, Brice A (1998) Chromosome 6-linked autosomal recessive early-onset Parkinsonism: linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family. The French Parkinson's Disease Genetics Study Group, and the European Consortium on Genetic Susceptibility in Parkinson's Disease. Am J Human Genet 63:88–94.CrossRefGoogle Scholar
  56. 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
  57. Van De Warrenburg BPC, Lammens M, Lücking CB, Denefle P, Wesseling P, Booij J, Praamstra P, Quinn N, Brice A, Horstink MWIM (2001) Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations. Neurology 56: 555–557.PubMedGoogle Scholar
  58. West A, Periquet M, Lincoln S, Lucking CB, Nicholl D, Bonifati V, Rawal N, Gasser T, Lohmann E, Deleuze JF, Maraganore D, Levey A, Wood N, Durr A, Hardy J, Brice A, Farrer M (2002) Complex relationship between Parkin mutations and Parkinson disease. Am J Med Genet 114:584–591CrossRefPubMedGoogle Scholar
  59. Yamamura Y, Sobue I, Ando K, Iida M, Yanagi T (1973) Paralysis agitans of early onset with marked diurnal fluctuation of symptoms. Neurology 23:239–244.PubMedGoogle Scholar
  60. 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

Copyright information

© Springer-Verlag Berlin Heidelberg 2005

Authors and Affiliations

  • Alexis Brice
    • 1
    • 2
  • Ebba Lohmann
    • 1
  • Pablo Ibanez
    • 1
  • Magali Periquet
    • 1
  • Sophie Laine
    • 1
  • Béatrice Debarges
    • 1
  • Suzanne Lesage
    • 1
  • Alexandra Dürr
    • 1
    • 2
  1. 1.INSERM Unit 679Paris cedex 13France
  2. 2.Département de Génétique, Cytogénétique et EmbryologieHôpital de la Pitié-Salpêtrière, AP-HPParis cedex 13France

Personalised recommendations