1,693
Views
3
CrossRef citations to date
0
Altmetric
Basic Research

Genetics of Parkinson's disease

Genética de la enfermedad de Parkinson

Génétique de la maladie de Parkinson

Pages 295-301 | Published online: 01 Apr 2022

REFERENCES

  • GowersWR.Diseases of the Nervous System. Philadelphia, Pa: P. Blakiston, Son & Co;1888
  • WardCD.DuvoisinRC.InceSE.NuttJD.EldridgeR.CalneDB.Parkinson's disease in 65 pairs of twins and in a set of quadruplets.Neurology.1983338158246683366
  • TannerCM.OttmanR.GoldmanSM.et al.Parkinson disease in twins: an etiologic study.JAMA.19992813413469929087
  • PolymeropoulosMH.LavedanC.LeroyE.et al.Mutation in the a-synuclein gene identified in families with Parkinson's disease.Science.1997276204520479197268
  • KitadaT.AsakawaS.HattoriN.et al.Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism.Nature.19983926056089560156
  • GasserT.Müller-MyhsokB.WszolekZK.et al.A susceptibility locus for Parkinson's disease maps to chromosome 2p13.Nat Genet.1998182622659500549
  • SingletonAB.FarrerM.JohnsonJ.et al.α-Synuclein locus triplication causes Parkinson's disease.Science.200330284114593171
  • LeroyE.BoyerR.ÀuburgerG.et al.The ubiquitin pathway in Parkinson's disease [letter].Nature.19983954514529774100
  • ValenteEM.Abou-SleimanPM.CaputoV.et al.Hereditary early-onset Parkinson's disease caused by mutations in PINK1.Science.20043041158116015087508
  • BonifatiV.RizzuP.Van BarenMJ.et al.Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.Science.200229925625912446870
  • FunayamaM.HasegawaK.KowaH.SaitoM.TsujiS.ObataF.A new locus for Parkinson's disease (PARKS) maps to chromosome 12p11.2-q13.1.Ann Neurol.20025129630111891824
  • HicksAA.PeturssonH.JonssonT.et al.A susceptibility gene for lateonset idiopathic Parkinson's disease.Ann Neurol.20025254955512402251
  • PankratzN.NicholsWC.UniackeSK.et al.Significant linkage of Parkinson disease to chromosome 2q36-37.Am J Hum Genet.2003721053105712638082
  • KrügerR.KuhnW.MûllerT.et al.Ala39Pro mutation in the gene encoding (α-synuclein in Parkinson's disease.Nat Genet.1998181061089462735
  • ZarranzJJ.AlegreJ.Gomez-EstebanJC.et al.The new mutation, E46K, of α-synuclein causes Parkinson and Lewy body dementia.Ann Neurol.20045516417314755719
  • VaughanJR.DurrA.GasserT.et al.The α-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: a study of 230 European cases.Ann Neurol.1998442702739708553
  • GasserT.Müller-MyhsokB.WszolekZ.et al.Genetic complexity and Parkinson's disease.Science.19972773883899518367
  • SpiraPJ.SharpeDM.HallidayG.CavanaghJ.NicholsonGA.Clinical and pathological features of a Parkinsonian syndrome in a family with an Ala53Thr a-synuclein mutation.Ann Neurol.20014931331911261505
  • HolzmannC.KrugerR.SaeckerAM.et al.Polymorphisms of the a-synuclein promoter: expression analyses and association studies in Parkinson's disease.J Neural Transm.2003110677612541013
  • Chiba-FalekO.NussbaumRL.Effect of allelic variation at the NACP-Rep1 repeat upstream of the a-synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system.Hum Mol Genet.2001103101310911751692
  • DeStefanoLewMF.GolbeLI.et al.PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study.Am J Hum Genet.2002701089109511920285
  • PankratzN.NicholsWC.UniackeSK.et al.PARKS and PARK7 linked to age of onset of Parkinson disease.Neurology.200360P02076
  • MaraganoreDM.LesnickTG.ElbazA.et al.UCHL1 is a Parkinson's disease susceptibility gene.Ann Neurol.20045551252115048890
  • ZimprichA.Mûller-MyhsokB.FarrerM.et al.The PARKS locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval.Am J Hum Genet.200474111914691730
  • MatsumineH.SaitoM.Shimoda-MatsubayashiS.et al.Localization of a gene for an autosomal recessive form of juvenile parkinsonism to chromosome 6q25. 2-27.Am J Hum Genet.1997605885969042918
  • LückingCB.DurrA.BonifatiV.et al.Association between early-onset Parkinson's disease and mutations in the parkin gene.N Engl J Med.20003421560156710824074
  • KannM.JacobsH.MohrmannK.et al.Role of parkin mutations in 111 community-based patients with early-onset parkinsonism.Ann Neurol.20025162162512112109
  • PeriquetM.LatoucheM.LohmannE.et al.Parkin mutations are frequent in patients with isolated early-onset parkinsonism.Brain.2003126(Pt 6)1271127812764050
  • LohmannE.PeriquetM.BonifatiV.et al.How much phenotypic variation can be attributed to parkin genotype?.Ann Neurol.20035417618512891670
  • PortmanAT.GiladiN.LeendersKL.et al.The nigrostriatal dopaminergic system in familial early onset parkinsonism with parkin mutations.Neurology.2001561759176211425950
  • LeendersKL.OertelWH.Parkinson's disease: clinical signs and symptoms, neural mechanisms, positron emission tomography, and therapeutic interventions.Neural Plast.200189911011530892
  • YamamuraY.HattoriN.MatsumineH.KuzuharaS.MizunoY.Autosomal recessive early-onset parkinsonism with diurnal fluctuation: clinicopathologic characteristics and molecular genetic identification.Brain Dev.200022{suppl 1)8791
  • KleinC.HedrichK.WellenbrockC.et al.Frequency of parkin mutations in late-onset Parkinson's disease.Ann Neurol.200354415416
  • LincolnSJ.MaraganoreDM.LesnickTG.et al.Parkin variants in North American Parkinson's disease: cases and controls.Mov Disord.2003181306131114639672
  • HilkerR.KleinC.GhaemiM.et al.Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene.Ann Neurol.20014936737611261512
  • ShimuraH.HattoriN.KuboS.et al.Familial parkinson disease gene product, parkin, is a ubiquitin-protein ligase. Wat.Genet.200025302305
  • ZhangY.GaoJ.ChungKK.HuangH.DawsonVL.DawsonTM.Parkin functions as an E2-dependent ubiquitin-protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1.Proc Natl AcadSci USA.2000971335413359
  • GasserT.Parkin and its role in Parkinson's disease. In: Ebadi M, Pfeiffer R, eds.Parkinson's Disease. Boca Raton, Fia: CRC Press LLC;2004
  • ShimuraH.SchlossmacherMG.HattoriN.et al.Ubiquitination of a new form of a-synuclein by parkin from human brain: implications for Parkinson's disease.Science.200129326326911431533
  • YangY.NishimuraI.ImaiY.TakahashiR.LuB.Parkin suppresses dopaminergic neuron-selective neurotoxicity induced by Pael-R in Drosophila.Neuron.20033791192412670421
  • ChungKK.ZhangY.LimKL.et al.Parkin ubiquitinates the a-synucleininteracting protein, synphilin-1: implications for Lewy body formation in Parkinson disease.Nat Med.200171144115011590439
  • PalacinoJJ.SagiD.GoldbergMS.et al.Mitochondrial dysfunction and oxidative damage in parkin-deficient mice.J Biol Chem.2004279186141862214985362
  • ValenteEM.BentivoglioAR.DixonPH.et al.Localization of a novel locus for autosomal recessive early-onset parkinsonism, park6, on human chromosome 1p35-p36.Am J Hum Genet.20016889590011254447
  • van DuijnCM.DekkerMC.BonifatiV.et al.PARK7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36.Am J Hum Genet.20016962963411462174
  • MooreDJ.ZhangL.DawsonTM.DawsonVL.A missense mutation (L166P) in DJ-1, linked to familial Parkinson's disease, confers reduced protein stability and impairs homo-oligomerization.7,.Neurochem.20038715581567
  • TaoX.TongL.Crystal structure of human DJ-1, a protein associated with early-onset Parkinson's disease.J Biol Chem.2003278313723137912761214
  • TairaT.SaitoY.NikiT.Iguchi-ArigaSM.TakahashiK.ArigaH.DJ-1 has a role in antioxidative stress to prevent cell death.EMBO Rep.20045430
  • HodY.PentyalaSN.WhyardTC.El-MaghrabiMR.Identification and characterization of a novel protein that regulates RNA-protein interaction.J Cell Biochem.19997243544410022524
  • Abou-SleimanPM.HealyDG.QuinnN.LeesAJ.WoodNW.The role of pathogenic DJ-1 mutations in Parkinson's disease.Ann Neurol.20035428328612953260
  • HealyDG.Abou-SleimanPM.ValenteEM.et al.DJ-1 mutations in Parkinson's disease.J Neurol Neurosurg Psychiatry.20047514414514707326
  • MarderK.TangMX.MejiaH.et al.Risk of Parkinson's disease among firstdegree relatives: a community-based study.Neurology.1996471551608710070
  • ScottWK.NanceMA.WattsRL.et al.Complete genomic screen in Parkinson disease: evidence for multiple.genes. JAMA.200128622392244
  • PankratzN.NicholsWC.UniackeSK.et al.Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations.Am J Hum Genet.20027112413512058349
  • DeStefanoGolbeLI.MarkMH.et al.Genome-wide scan for Parkinson's disease: the GenePD study.Neurology.2001571124112611571351