Skip to main content
SpringerLink
Log in

Update on Parkinson's Disease Genetics

  • Reference work entry
  • First Online:
Handbook of Neurochemistry and Molecular Neurobiology

Abstract:

Parkinson's disease (PD) is the most common neurodegenerative movement disorder with a multifactorial etiology, which includes environmental factors acting on genetically predisposed individuals. Although initially discounted, genetic factors causing PD become more and more important, allowing insight into molecular mechanisms leading to neuronal cell death. On the basis of families with Mendelian inheritance of PD, to date six genes could be identified that cause autosomal dominantly or autosomal recessively inherited forms of the disease. Interestingly, variants in some of these genes represent genetic risk factors also for the common sporadic form of PD. Therefore, the definition of novel disease‐causing genes and the elucidation of molecular signaling pathways involved in neurodegeneration in PD provide the rationale for new strategies for disease prevention and causative therapy in the future.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 249.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book
USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Abbreviations

LRRK2:

leucine‐rich repeat kinase 2

NFM:

neurofilament M

PD:

Parkinson's disease

PINK1:

PTEN‐induced putative kinase 1

UCH‐L1:

ubiquitin C‐terminal hydrolase L1

References

  • Abou-Sleiman PM, Healy DG, Quinn N, Lees AJ, Wood NW. 2003. The role of pathogenic DJ-1 mutations in Parkinson's disease. Ann Neurol 54: 283–286.

    Article  CAS  PubMed  Google Scholar 

  • Athanassiadou A, Voutsinas G, Psiouri L, et al. 1999. Genetic analysis of families with Parkinson disease that carry the Ala53Thr mutation in the gene encoding α‐synuclein. Am J Hum Genet 65: 555–558.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Bandopadhyay R, de Silva R, Khan N, Graham E, Vaughan J, et al. 2001. No pathogenic mutations in the synphilin‐1 gene in Parkinson's disease. Neurosci Lett 307: 125–127.

    Article  CAS  PubMed  Google Scholar 

  • Berg D, Niwar N, Maass S, Zimprich A, Moeller C, et al. 2005. Mutations in the α‐synuclein gene and Parkinson's disease–implications from the screening of more than 1900 patients. Mov Disord 20: 1191–1194.

    Article  PubMed  Google Scholar 

  • Bonifati V, Oostra BA, Heutink P. 2004. Unraveling the pathogenesis of Parkinson's disease–the contribution of monogenic forms. Cell Mol Life Sci 61: 1729–1750.

    Article  CAS  PubMed  Google Scholar 

  • Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, et al. 2003. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 299: 256–259.

    Article  CAS  PubMed  Google Scholar 

  • Burn DJ, Mark MH, Playford ED, Maraganore DM, Zimmerman TR Jr, et al. 1992. Parkinson's disease in twins studied with 18F-dopa and positron emission tomography. Neurology 42: 1894–1900.

    Article  CAS  PubMed  Google Scholar 

  • Canet-Aviles RM, Wilson MA, Miller DW, Ahmad R, McLendon C, et al. 2004. The Parkinson's disease protein DJ-1 is neuroprotective due to cysteine-sulfinic acid-driven mitochondrial localization. PNAS 101: 9103–9108.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Chartier-Harlin MC, Kachergus J, Roumier C, Mouroux V, Douay X, et al. 2004. Alpha-synuclein locus duplication as a cause of familial Parkinson's disease. Lancet 364: 1167–1169.

    Article  CAS  PubMed  Google Scholar 

  • Chiba-Falek O, Nussbaum RL. 2001. Effect of allelic variation at the NACP-Rep1 repeat upstream of the α-synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system. Hum Mol Genet 10: 3101–3109.

    Article  CAS  PubMed  Google Scholar 

  • Chung KK, Zhang Y, Lim KL, Tanaka Y, Huang H, et al. 2001. Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: Implications for Lewy-body formation in Parkinson disease. Nat Med 7: 1144–1150.

    Article  CAS  PubMed  Google Scholar 

  • Clark LN, Afridi S, Mejia-Santana H, Harris J, Louis ED, et al. 2004. Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations. Mov Disord 19: 796–800.

    Article  PubMed  Google Scholar 

  • Conway KA, Harper JD, Lansbury PT. 1998. Accelerated in vitro fibril formation by a mutant alpha-synuclein linked to early-onset Parkinson disease. Nat Med 4: 1318–1320.

    Article  CAS  PubMed  Google Scholar 

  • Cookson MR, Lockhart PJ, McLendon C, O'Farrell C, Schlossmacher M, et al. 2003. RING finger 1 mutations in parkin produce altered localization of the protein. Hum Mol Genet 12: 2957–2965.

    Article  CAS  PubMed  Google Scholar 

  • Davidson WS, Jonas A, Clayton DF, George JM. 1998. Stabilization of alpha-synulein secondary structure upon binding to synthetic membranes. J Biol Chem 273: 9443–9449.

    Article  CAS  PubMed  Google Scholar 

  • De Stefano AL, Lew MF, Golbe LI, Mark MH, Lazzarini AM, et al. 2002. PARK3 influences age at onset in Parkinson disease: A genome scan in the GenePD study. Am J Hum Genet 70: 1089–1095.

    Article  CAS  Google Scholar 

  • Duda JE, Giasson BI, Mabon ME, Miller DC, et al. 2002. Concurrence of α‐synuclein and tau brain pathology in the Contursi kindred. Acta Neuropathol 104: 7–11.

    Article  CAS  PubMed  Google Scholar 

  • Duvoisin RC, Eldridge R, Williams A, Nutt J, Calne D. 1981. Twin study of Parkinson disease. Neurology 31: 77–80.

    Article  CAS  PubMed  Google Scholar 

  • Engelender S, Kaminsky Z, Guo X, Sharp AH, Amaravi RK, et al. 1999. Synphilin-1 associates with alpha-synuclein and promotes the formation of cytosolic inclusions. Nat Genet 22: 110–114.

    Article  CAS  PubMed  Google Scholar 

  • Farrer M, Gwinn-Hardy K, Muenter M, De Vrieze FW, Crook R, et al. 1999. A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor. Hum Mol Genet 8: 81–85.

    Article  CAS  PubMed  Google Scholar 

  • Farrer M, Destee T, Becquet E, Wavrant-De Vrieze F, et al. 2000. Linkage exclusion in French families with probable Parkinson's disease. Mov Disord 15: 1075–1083.

    Article  CAS  PubMed  Google Scholar 

  • Farrer M, Kachergus J, Forno L, Lincoln S, Wang DS, et al. 2004. Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications. Ann Neurol 55: 174–179.

    Article  CAS  PubMed  Google Scholar 

  • Farrer M, Maraganore DM, Lockhart P, et al. 2001. α-Synuclein gene haplotypes are associated with Parkinson's disease. Hum Mol Genet 10: 1847–1851.

    Article  CAS  PubMed  Google Scholar 

  • Foroud T, Uniacke SK, Liu L, Pankratz N, Rudolph A, et al. 2003. Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson's disease. Neurology 60: 796–801.

    Article  CAS  PubMed  Google Scholar 

  • Funayama M, Hasegawa K, et al. 2002. A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2‐q13.1. Ann Neurol 51: 296–301.

    Article  CAS  PubMed  Google Scholar 

  • Gasser T, Muller-Myhsok B, Wszolek ZK, Oehlmann R, Calne DB, et al. 1998. A susceptibility locus for Parkinson's disease maps to chromosome 2p13. Nat Genet 18: 262–265.

    Article  CAS  PubMed  Google Scholar 

  • Giasson BI, Uryu K, Trojanowski JQ, Lee VM. 1999. Mutant and wild type human alpha-synucleins assemble into elongated filaments with distinct morphologies in vitro. J Biol Chem 274: 7619–7622.

    Article  CAS  PubMed  Google Scholar 

  • Giasson BI, Forman MS, Higuchi M, Golbe LI, Graves CL, et al. 2003. Initiation and synergistic fibrillization of tau and alpha-synuclein. Science 300: 636–640.

    Article  CAS  PubMed  Google Scholar 

  • Grünblatt E, Mandel S, Jacob-Hirsch J, Zeligson S, Amariglo N, et al. 2004. J Neural Transm 111: 1543–1573.

    Article  PubMed  CAS  Google Scholar 

  • Gwinn-Hardy K, Mehta ND, Farrer M, Maraganore D, Muenter M, et al. 2000. Distinctive neuropathology revealed by alpha-synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4p. Acta Neuropathol 99: 663–672.

    Article  CAS  PubMed  Google Scholar 

  • Hampshire DJ, Roberts E, Crow Y, Bond J, Mubaidin A, et al. 2001. Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36. J Med Genet 38: 680–682.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Hatano Y, Li Y, Sato K, et al. 2004. Novel PINK1 mutations in early‐onset parkinsonism. Ann Neurol 56: 424–427.

    Article  CAS  PubMed  Google Scholar 

  • Healy DG, Abou-Sleiman PM, Lees AJ, Casas JP, Quinn N, et al. 2004. Tau gene and Parkinson's disease: A case-control study and meta-analysis. J Neurol Neurosurg Psychiatry 75: 962–965.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Hering R, Strauss K, Tao X, Bauer A, Mietz EM, et al. 2004a. Novel E64D mutation in DJ-1 gene is causative of early onset Parkinson's Disease. Hum Mutat 24: 321–329.

    Article  CAS  PubMed  Google Scholar 

  • Hering R, Petrovic S, Mietz EM, Holzmann C, Berg D, et al. 2004b. Extended mutation analysis and association studies of Nurr1 (NR4A2) in Parkinson's Disease. Neurology 62: 1231–1232.

    Article  CAS  PubMed  Google Scholar 

  • Hicks A, Petursson H, Jonsson T, Stefansson H, Johannsdottir H, et al. 2002. A susceptibility gene for late-onset idiopathic Parkinson's disease successfully mapped. Ann Neurol 52: 549–555.

    Article  CAS  PubMed  Google Scholar 

  • Hill WD, Lee VM, Hurtig HI, Murray JM, Trojanowski JQ. 1991. Epitopes located in spatially separate domains of each neurofilament subunit are present in Parkinson's disease Lewy bodies. J Comp Neurol 309: 150–160.

    Article  CAS  PubMed  Google Scholar 

  • Holthoff VA, Vieregge P, Kessler J, Pietrzyk U, Herholz K, et al. 1994. Discordant twins with Parkinson's disease: Positron emission tomography and early signs of impaired cognitive circuits. Ann Neurol 36: 176–182.

    Article  CAS  PubMed  Google Scholar 

  • Holzmann C, Krüger R, Saecker AMM, Schmitt I, Schöls L, et al. 2003. Characterization of α-synuclein promoter polymorphisms in Parkinson's disease. J Neural Transm 110: 67–76.

    Article  CAS  PubMed  Google Scholar 

  • Karamohamed S, De Stefano AL, Wilk JB, Shoemaker CM, Golbe LI, et al. 2003. A haplotype at the PARK3 locus influences onset age for Parkinson's disease: The GenePD study. Neurology 61: 1557–1561.

    Article  CAS  PubMed  Google Scholar 

  • Khan NL, Valente EM, Bentivoglio AR, Wood NW, Albanese A, et al. 2002. Clinical and subclinical dopaminergic dysfunction in PARK6–linked parkinsonism: An 18F-dopa PET study. Ann Neurol 52: 849–853.

    Article  PubMed  Google Scholar 

  • Kotzbauer PT, Giasson BI, Kravitz AV, Golbe LI, Mark MH, et al. 2004. Fibrillization of alpha-synuclein and tau in familial Parkinson's disease caused by the A53T alpha-synuclein mutation. Exp Neurol 187: 279–288.

    Article  CAS  PubMed  Google Scholar 

  • Krüger R, Kuhn W, Muller T, Woitalla D, Graeber M, et al. 1998. Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. Nat Genet 18: 106–108.

    Article  PubMed  Google Scholar 

  • Krüger R, Kuhn W, Müller T, Kühnl N, Fuchs GA, et al. 1999. Increased susceptibility to sporadic Parkinson's disease by a certain combined alpha-synuclein/apolipoprotein E genotype. Ann Neurol 45: 611–617.

    Article  PubMed  Google Scholar 

  • Krüger R, Kuhn W, Leenders KL, Sprengelmeyer R, Müller T, et al. 2001. Familial parkinsonism with synuclein pathology: Clinical and PET studies of A30P mutation carriers. Neurology 56: 1355–1362.

    Article  PubMed  Google Scholar 

  • Krüger R, Fischer C, Strauss K, Schulte T, Riess O, et al. 2003. Mutations in the neurofilament M gene in Parkinson's disease. Neurosci Lett 351: 125–129.

    Article  PubMed  CAS  Google Scholar 

  • Kwok JB, Teber ET, Loy C, Hallupp M, Nicholson G, et al. 2004. Tau haplotypes regulate transcription and are associated with Parkinson's disease. Ann Neurol 55: 329–334.

    Article  CAS  PubMed  Google Scholar 

  • Laihinen A, Ruottinen H, Rinne JO, Haaparanta M, Bergman J, et al. 2000. Risk for Parkinson's disease: Twin studies for the detection of asymptomatic subjects using [18F]6–fluorodopa PET. Neurology 247 (Suppl. 2): II110–II113.

    Google Scholar 

  • Lavedan C, Buchholtz S, Nussbaum RL, Albin RL, Polymeropoulos MH. 2002. A mutation in the human neurofilament M gene in Parkinson's disease that suggests a role for the cytoskeleton in neuronal degeneration. Neurosci Lett 322: 57–61.

    Article  CAS  PubMed  Google Scholar 

  • Le WD, Xu P, Jankovic J, Jiang H, Appel SH, et al. 2003. Mutations in NR4A2 associated with familial Parkinson disease. Nat Genet 33: 85–89.

    Article  CAS  PubMed  Google Scholar 

  • Leroy E, Boyer R, Auburger G, Leube B, Ulm G, et al. 1998. The ubiquitin pathway in parkinson's disease. Nature 395: 451–452.

    Article  CAS  PubMed  Google Scholar 

  • Liu Y, Fallon L, Lashuel HA, Liu Z, Lansbury PT. 2002. The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility. Cell 111: 209–218.

    Article  CAS  PubMed  Google Scholar 

  • Lücking CB, Dürr A, Bonifati V, Vaughan J, De Michele G, et al. 2000. Association between early-onset Parkinson's disease and mutations in the Parkin gene. N Engl J Med 342: 1560–1567.

    Article  PubMed  Google Scholar 

  • Maraganore DM, Lesnick TG, Elbaz A, Chartier-Harlin MC, Gasser T, et al. 2004. Collaborative reanalysis of the ubiquitin carboxy-terminal hydrolase L1 (UCHL-1) gene S18 variant and its association with Parkinson's disease (PD). Ann Neurol 55: 512–521.

    Article  PubMed  CAS  Google Scholar 

  • Marttila RJ, Kaprio J, Koskenvuo MD, Rinne UK. 1988. Parkinson's disease in a nationwide twin cohort. Neurology 38: 1217–1219.

    Article  CAS  PubMed  Google Scholar 

  • Marx FP, Holzmann C, Strauss KM, Li L, Eberhardt O, et al. 2003. Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease. Hum Mol Gen 12: 1223–1231.

    Article  CAS  PubMed  Google Scholar 

  • Masliah E, Rockenstein E, Veinbergs I, Mallory M, Hashimoto M, et al. 2000. Dopaminergic loss and inclusion body formation in alpha-synuclein mice: Implications for neurodegenerative disorders. Science 287: 1265–1269.

    Article  CAS  PubMed  Google Scholar 

  • Miller DW, Ahmad R, Hague S, Baptista MJ, Canet-Aviles R, et al. 2003. L166P mutant DJ-1, causative for recessive Parkinson's disease, is degraded through the ubiquitin-proteasome system. J Biol Chem 278: 36588–36595.

    Article  CAS  PubMed  Google Scholar 

  • Miller DW, Hague SM, Clarimon J, Baptista M, Gwinn-Hardy K, et al. 2004. Alpha-synuclein in blood and brain from familial Parkinson disease with SNCA locus triplication. Neurology 62: 1835–1838.

    Article  CAS  PubMed  Google Scholar 

  • Moore DJ, Zhang L, Dawson TM, Dawson VL. 2003. A missense mutation (L166P) in DJ-1, linked to familial Parkinson's disease, confers reduced protein stability and impairs homo-oligomerization. J Neurochem 87: 1558–1567.

    Article  CAS  PubMed  Google Scholar 

  • O'Farrell C, Murphy DD, Petrucelli L, Singleton AB, Hussey J, et al. 2001. Transfected synphilin-1 forms cytoplasmic inclusions in HEK293 cells. Brain Res Mol Brain Res 97: P94–P102.

    Article  Google Scholar 

  • Oliveira SA, Scott WK, Martin ER, Nance MA, Watts RL, et al. 2003. Parkin mutations and susceptibility alleles in late-onset Parkinson's disease. Ann Neurol 53: 624–629.

    Article  CAS  PubMed  Google Scholar 

  • Paisan-Ruiz C, Hain S, Evans EW, Gilks WP, Simon J, et al. 2004. Cloning the gene containing mutations that cause PARK8–linked Parkinson's disease. Neuron 44: 595–600.

    Article  CAS  PubMed  Google Scholar 

  • Pankratz N, Nichols WC, Uniacke SK, Halter C, Rudolph A, et al. 2003. Significant linkage of Parkinson disease to chromosome 2q36–37. Am J Hum Genet 72: 1053–1057.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Pankratz N, Uniacke SK, Halter CA, Rudolph A, Shults CW, et al. 2004. Genes influencing Parkinson disease onset: Replication of PARK3 and identification of novel loci. Neurology 62: 1616–1618.

    Article  CAS  PubMed  Google Scholar 

  • Parsian A, Racette B, Zhang ZH, et al. 1998. Mutation, sequence analysis, and association studies of α-synuclein in Parkinson's disease. Neurology 51: 1757–1759.

    Article  CAS  PubMed  Google Scholar 

  • Perez‐Olle R, Lopez‐Toledano MA, Liem RKH. 2004. The G336S variant in the human neurofilament‐M gene does not affect its assembly or distribution: Importance of the functional analysis of neurofilament variants. J Neuropathol Exp Neurol 63: 759–774.

    Article  PubMed  Google Scholar 

  • Piccini P, Burn DJ, Ceravolo R, Maraganore D, Brooks. 1999. The role of inheritance in sporadic Parkinson's disease: Evidence from a longitudinal study of dopaminergic function in twins. Ann Neurol 45: 577–582.

    Article  CAS  PubMed  Google Scholar 

  • Polymeropoulos MH, Lavedan C, Leroy E, Die SE, Dehejia A, et al. 1997. Mutation in the α-synuclein gene identified in families with Parkinson's disease. Science 276: 2045–2047.

    Article  CAS  PubMed  Google Scholar 

  • Rohe CF, Montagna P, Breedveld G, Cortelli P, Oostra BA, et al. 2004. Homozygous PINK1 C‐terminus mutation causing early‐onset parkinsonism. Ann Neurol 56: 427–431.

    Article  CAS  PubMed  Google Scholar 

  • Scott WK, Nance MA, Watts RL, Hubble JP, Koller WC, et al. 2001. Complete genomic screen in Parkinson disease: Evidence for multiple genes. JAMA 286: 2239–2244.

    Article  CAS  PubMed  Google Scholar 

  • Shimura H, Hattori N, Kubo S-I, Mizuno Y, Asakawa S, et al. 2000. Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. Nat Genet 25: 302–305.

    Article  CAS  PubMed  Google Scholar 

  • Spadafora P, Annesi G, Pasqua AA, et al. 2003. NACP-REP1 polymorphism is not involved in Parkinson's disease: A case-control study in a population sample from southern italy. Neurosci Lett 351: 375–378.

    Article  CAS  Google Scholar 

  • Tan EK, Matsuura T, Nagamitsu S, Khajavi M, Jankovic J, et al. 2000. Polymorphism of NACP-Rep1 in Parkinson's disease: An etiologic link with essential tremor? Neurology 54: 1195–1198.

    Article  CAS  PubMed  Google Scholar 

  • Tan EK, Chai A, Teo YY, Zhao Y, Tan C, et al. 2004. Alpha-synuclein haplotypes implicated in risk of Parkinson's disease. Neurology 62: 128–131.

    Article  CAS  PubMed  Google Scholar 

  • Tanaka M, Kim YM, Lee G, Junn E, Iwatsubo T, et al. 2003. Aggresomes formed by alpha-synuclein and synphilin-1 are cytoprotective. J Biol Chem 279: 4625–4631.

    Article  PubMed  Google Scholar 

  • Tanner CM, Ottman R, Goldman SM, Ellenberg J, Chan P, et al. 1999. Parkinson's disease in twins: An etiologic study. JAMA 281: 341–246.

    Article  CAS  PubMed  Google Scholar 

  • Valente EM, Bentivoglio AR, Dixon PH, Ferraris A, Ialongo T, et al. 2001. Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35–p36. Am J Hum Genet 68: 895–900.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Valente EM, Abou-Sleiman PM, Caputo V, Muqit MMK, Harvey K, et al. 2004a. Hereditary early-onset Parkinson's disease is caused by mutations in PINK1. Science 304: 1158–1160.

    Article  CAS  PubMed  Google Scholar 

  • Valente EM, Salvi S, Ialongo T, Marongiu R, Elia AE, et al. 2004b. PINK1 mutations are associated with sporadic early-onset parkinsonism. Ann Neurol 56: 336–341.

    Article  CAS  PubMed  Google Scholar 

  • Van Duijn CM, Deker MCJ, Bonifati V, Galjaard RJ, Houwing-Duistermaat JJ, et al. 2001. PARK7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36. Am J Hum Genet 69: 629–634.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Vaughan JR, Farrer MJ, Wszolek ZK, Gasser T, Durr A, et al. 1998. Sequencing of the a-synuclein gene in a large series of familial Parkinson's disease fails to reveal any further mutations. Hum Mol Genet 7: 751–753.

    Article  CAS  PubMed  Google Scholar 

  • Wang C, Tan JMM, Ho MWL, Zaiden N, Wong SH, et al. 2004. The solubility and intracellular localization of parkin are altered by several familial Parkinson's disease point mutations. Progr No. 558.4 Abstract Viewer/Itinerary Planner. Washington, DC: Society for Neuroscience.

    Google Scholar 

  • West AB, Zimprich A, Lockhart PJ, Farrer M, Singleton A, et al. 2001. Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes. Eur J Hum Genet 9: 659–666.

    Article  CAS  PubMed  Google Scholar 

  • Wintermeyer P, Krüger R, Kuhn W, Müller T, Woitalla D, et al. 2000. Mutation analysis and association studies of the UCHL1 gene in German Parkinson's disease patients. Neuroreport 11: 2079–2082.

    Article  CAS  PubMed  Google Scholar 

  • Wszolek ZK, Pfeiffer RF, Tsuboi Y, Uitti RJ, McComb RD, et al. 2004. Autosomal dominant parkinsonism associated with variable synuclein and tau pathology. Neurology 62: 1619–1622.

    Article  CAS  PubMed  Google Scholar 

  • Xu P-Y, Liang R, Jankovic J, Hunter C, Zeng Y-X, et al. 2002. Association of homozygous 7048G7049 variant in the intron six of Nurr1 gene with Parkinson's disease. Neurology 58: 881–884.

    Article  CAS  PubMed  Google Scholar 

  • Zarranz JJ, Alegre J, Gomez-Estaban JC, Lezcano E, Ros R, et al. 2004. The new mutation, E64K, of alpha-synuclein causes Parkinson and Lewy body dementia. Ann Neurol 55: 164–173.

    Article  CAS  PubMed  Google Scholar 

  • Zetterstrom RH, Solomin L, Jansson L, Hoffer BJ, Olson L, et al. 1997. Dopamine neuron agenesis in Nurr1–deficient mice. Science 276: 248–250.

    Article  CAS  PubMed  Google Scholar 

  • Zheng K, Heydari B, Simon DK. 2003. A common NURR1 polymorphism associated with Parkinson disease and diffuse Lewy body disease. Arch Neurol 60: 722–725.

    Article  PubMed  Google Scholar 

  • Zimprich A, Müller-Myhsok B, Farrer M, Leitner P, Sharma M, et al. 2004a. The PARK8 locus in autosomal dominant parkinsonism: Confirmation of linkage and further delineation of the disease-containing interval. Am J Hum Genet 74: 11–19.

    Article  CAS  PubMed  Google Scholar 

  • Zimprich A, Biskup S, Leitner P, Lichtner P, Farrer M, et al. 2004b. Mutations in a large multifunctional protein cause autosomal dominant parkinsonism with pleiomorphic α-synuclein and tau pathology (PARK8). Neuron 44: 601–607.

    Article  CAS  PubMed  Google Scholar 

Download references

Authors
  1. R. Krüger
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. D. Berg
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. O. Riess
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. P. Riederer
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Center for Neurochemistry, Nathan S. Kline Institute for Psychiatric Research, 140 Old Orangeburg Road, New York, 10962, Orangeburg, USA

    Abel Lajtha (Director) (Director)

  2. Technion‐Rappaport Family Faculty of Medicine, Efron St., POBox 9697, 31096, Haifa, Israel

    Moussa B. H. Youdim (Professor of Pharmacology Professor of Life Sciences Director of Eve Topf and NPF Centers of Excellence for Neurodegenerative Diseases Research) (Professor of Pharmacology Professor of Life Sciences Director of Eve Topf and NPF Centers of Excellence for Neurodegenerative Diseases Research)

  3. Clinic and Policlinic of Psychiatry and Psychotherapy Dept. Clinical Neurochemistry, University of Würzburg, Füchsleinstr. 15, 97080, Würzburg, Germany

    Peter Riederer

  4. Eve Topf Center for Neurodegenerative Diseases Research and Dept. of Pharmacology, Faculty of Medicine Technion, Efron St., P.O.B. 9697, 31096, Haifa, Israel

    Sylvia A. Mandel

  5. Department of Neurosciences, University of Padova Medical School, Via Giustiniani 5, 35128, Padova, Italy

    Leontino Battistin

Rights and permissions

Reprints and permissions

Copyright information

© 2007 Springer Science+Business Media, LLC

About this entry

Cite this entry

Krüger, R., Berg, D., Riess, O., Riederer, P. (2007). Update on Parkinson's Disease Genetics. In: Lajtha, A., Youdim, M.B.H., Riederer, P., Mandel, S.A., Battistin, L. (eds) Handbook of Neurochemistry and Molecular Neurobiology. Springer, New York, NY. https://doi.org/10.1007/978-0-387-30377-2_3

Download citation

Publish with us

Policies and ethics

Search

Navigation