Cited by 788Parkinson's Disease Mechanisms and TreatmentsGenetic Associations and EpidemiologyDeep Brain Stimulation and Movement Disorders

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Mapping of a Gene for Parkinson's Disease to Chromosome 4q21-q23

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Polymeropoulos, Mihael H., Higgins, Joseph J., Golbe, Lawrence I., Johnson, William G., Ide, Susan E., Di Iorio, Giuseppe, Sanges, Giuseppe, Stenroos, Edward S., Pho, Lana T., Schaffer, Alejandro A., Lazzarini, Alice M., Nussbaum, Robert L., Duvoisin, Roger C.·1996·Science

DOI 10.1126/science.274.5290.1197

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Abstract

Parkinson's disease (PD) is the second most common neurodegenerative disorder after Alzheimer's disease, affecting approximately 1 percent of the population over age 50. Recent studies have confirmed significant familial aggregation of PD and a large number of large multicase families have been documented. Genetic markers on chromosome 4q21-q23 were found to be linked to the PD phenotype in a large kindred with autosomal dominant PD, with a Zmax = 6.00 for marker D4S2380. This finding will facilitate identification of the gene and research on the pathogenesis of PD.

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Chronic Parkinsonism in Humans Due to a Product of Meperidine-Analog Synthesis
Langston, J. W., Ballard, P., Tetrud, J. W., & Irwin, I. (1983) · Science · doi:10.1126/science.6823561 · Cited by 4,914
The relevance of the Lewy body to the pathogenesis of idiopathic Parkinson's disease.
Gibb, W. R., & Lees, A. J. (1988) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp.51.6.745 · Cited by 3,481
An Essay on the Shaking Palsy
Parkinson, J. (2002) · Journal of Neuropsychiatry · doi:10.1176/jnp.14.2.223 · Cited by 2,856
Chronic parkinsonism secondary to intravenous injection of meperidine analogues
Davis, G. C., Williams, A. C., Markey, S. P., Ebert, M. H., Caine, E. D., Reichert, C. M., & Kopin, I. J. (1979) · Psychiatry Research · doi:10.1016/0165-1781(79)90006-4 · Cited by 1,377
Characterization of the common genetic defect in humans deficient in debrisoquine metabolism
Gonzalez, F. J., Skodat, R. C., Kimura, S., Umeno, M., Zanger, U. M., Nebert, D. W., Gelboin, H. V., Hardwick, J. P., & Meyer, U. (1988) · Nature · doi:10.1038/331442a0 · Cited by 715
A Manual of Diseases of the Nervous System.
(1892) · JAMA · doi:10.1001/jama.1892.02420130030009 · Cited by 679
Parkinson's disease: the presence of Lewy bodies in Auerbach's and Meissner's plexuses
Wakabayashi, K., Takahashi, H., Takeda, S., Ohama, E., & Ikuta, F. (1988) · Acta Neuropathologica · doi:10.1007/bf00687767 · Cited by 528
A large kindred with autosomal dominant Parkinson's disease
Golbe, L., Iorio, G. D., Bonavita, V., Miller, D. C., & Duvoisin, R. (1990) · Annals of Neurology · doi:10.1002/ana.410270309 · Cited by 463
Debrisoquine hydroxylase gene polymorphism and susceptibility to Parkinson's disease
Smith, C., Wolf, C. R., Gough, A. C., Spurr, N. K., Leigh, P. N., Summers, B. A., Harding, A. E., Maranganore, D. M., Sturman, S., Williams, A. C., et al. (1992) · The Lancet · doi:10.1016/0140-6736(92)91196-f · Cited by 417
Increase of deleted mitochondrial DNA in the striatum in Parkinson's disease and senescence
Ikebe, S.-I., Tanaka, M., Ohno, K., Sato, W., Hattori, K., Kondo, T., Mizuno, Y., & Ozawa, T. (1990) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(90)90497-b · Cited by 341

Show all 27 references

Research works printed but not linked: 6

Forno L. S., Adv. Neurol. 45, 35 (1986);
Mjönes H., Acta. Psychiatr. Neurol. 54, 1 (1949);
Duvoisin R. C., Adv. Neurol. 69, 33 (1996).
Armstrong M., Daly A. K., Cholerton S., Bateman D. N., Idle J. R., ibid. 339, 1017 (1992);
Golbe L. I., Di Iorio G., Bonavita V., Duvoisin R. C., Mov. Dis. 7, 24 (1992);
Golbe L. I. et al. Ann. Neurol. in press

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“[59] Polymeropoulos MH, Higgins JJ, Golbe LI, Johnson WG, Ide SE, Di Iorio G, Sanges G, Stenroos ES, Pho LT, Schaffer AA, Lazzarini AM, Nussbaum RL, Duvoisin RC.”
Background
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Background
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“(Polymeropoulos et al., 1996).”
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Belin, A. C., & Ran, C. (2014) · Journal of Parkinsonism and Restless Legs Syndrome · doi:10.2147/jprls.s38954 · Cited by 6
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Background
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“substantia nigra, cerebral cortex) [20].”
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Ross, O. A., Braithwaite, A. T., & Farrer, M. J. (2008) · Elsevier eBooks · doi:10.1016/b978-0-12-374028-1.00002-6 · Cited by 5
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Puschmann, A., & Wszołek, Z. K. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-405195-9.00016-0 · Cited by 5
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Background
Initial results of a genome survey for novel alzheimer's disease risk genes: Association with a locus on the X chromosome
Zubenko, G. S., Stiffler, J. S., Hughes, H. B., Hurtt, M. R., & Kaplan, B. B. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19980328)81:2 · Cited by 18
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Perl, D. P. (2007) · Handbook of clinical neurology · doi:10.1016/s0072-9752(07)83008-9 · Cited by 4
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Ben-David, E., & Tu, R. (2014) · American Journal of Neuroradiology · doi:10.3174/ajnr.a4092 · Cited by 4
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Background
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Singh, S. L., & Bhat, R. (2024) · ACS Chemical Neuroscience · doi:10.1021/acschemneuro.3c00793 · Cited by 4
[Longitudinal study of three families with familial Parkinson's disease].
Baltazar-Rodríguez, L. M., Millán-Guerrero, R. O., Aceves-Themsel, R., Isáis‐Millán, S., & Delgado‐Enciso, I. (2006) · PubMed · Cited by 4
Are neuropsychological tests useful in screening for the genetic risk of Parkinson's disease?
Vieregge, P., Heberlein, I., & Kömpf, D. (1997) · Parkinsonism & Related Disorders · doi:10.1016/s1353-8020(97)00012-6 · Cited by 4
Génétique de la maladie de Parkinson
Brassat, D., Dürr, A., Agid, Y., & Brice, A. (1999) · La Revue de Médecine Interne · doi:10.1016/s0248-8663(99)80493-7 · Cited by 4
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McNaught, K. S. P. (2007) · Wiley eBooks · doi:10.1002/9783527620234.ch8 · Cited by 4
Parkinson's disease genetics: a complex disease comes to the clinic
Pérez‐Tur, J. (2006) · The Lancet Neurology · doi:10.1016/s1474-4422(06)70580-4 · Cited by 4
Genetic Factors in Parkinsons Disease and Potential Therapeutic Targets
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“mapped a gene for PD to a locus at chromosome 4q21-23 (PARK1 locus) [94].”
Background
Exome sequencing in Asian populations identifies rare deficient SMPD1 alleles that increase risk of Parkinson’s diseasePreprint
Chew, E. G. Y., Liu, Z., Li, Z., Chung, S. J., Lian, M. M., Tandiono, M., Ng, E., Tan, L., Chng, W. L., Tan, T. J., et al. (2023) · medRxiv · doi:10.1101/2023.08.03.23293387 · Cited by 4
Neurobiology of Disorders with Lewy Bodies
Hansen, L. A., & Masliah, E. (2001) · Elsevier eBooks · doi:10.1016/b978-012351830-9/50016-0 · Cited by 4
Bridging the gap in Parkinson’s disease research: from general pathophysiology to advanced 3d cell culture models
Keleş, B. S., Rumman, B., Samarie, M. A. J. A., Özdemir, Y., Çakmak, Ö. Ö., Akyoldaş, G., Ertan, S., & Sokullu, E. (2025) · Cell Communication and Signaling · doi:10.1186/s12964-025-02461-z · Cited by 3
“It was discovered in an Italian family that developed the autosomal-dominant form of PD [64].”
Neurodegenerative Disorders: The Role of Genetic Factors in Their Origin and the Efficiency of Treatment
Sukhanov, V. A., Ionov, I. D., & Piruzyan, L. A. (2005) · Human Physiology · doi:10.1007/s10747-005-0080-6 · Cited by 3
“Epidemiological studies in Sweden and Italy showed that the risk of PD in first-degree relatives of PD patients is two- to threefold higher than in the general population [ 30 ].”
Genetics of Parkinson’s Disease: The Role of Copy Number Variations
Cognata, V. L., D’Agata, V., Cavalcanti, F., & Cavallaro, S. (2016) · InTech eBooks · doi:10.5772/62881 · Cited by 3
“The SNCA (alpha-synuclein) gene, localized in the PARK1 locus, was the first to be associated to this pattern of transmission and was identified in an Italian American family with more than 60 affected individuals distributed on five generations [7].”
Background
Polyphenols as Potential Therapeutic Drugs in Neurodegeneration
de Laureto, P. P., Palazzi, L., & Acquasaliente, L. (2019) · IntechOpen eBooks · doi:10.5772/intechopen.89575 · Cited by 3
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Zhu, C., Zhu, J., Xiang, Y., Bu, X., Jin, W., & Wang, Y. (2022) · Journal of Alzheimer s Disease · doi:10.3233/jad-220742 · Cited by 3
Genetic aspects of Parkinson's disease
Mizuno, Y., Hattori, N., & Mochizuki, H. (2007) · Handbook of clinical neurology · doi:10.1016/s0072-9752(07)83009-0 · Cited by 3
An association study between genetic variants at mu-opioid receptor, dopamine transporter, catechol- O-methyltransferase, and dopamine genes and risk of Parkinson's disease
施邦英, 余志強, 張建國, Shih, P., Er, T., & Chang, J. (2013) · Cited by 3
Expressive Probability Models in Science
Russell, S. (1999) · Lecture notes in computer science · doi:10.1007/3-540-46846-3_2 · Cited by 3
“Research on phylogenetic trees [1] and genetic linkage analysis [ 8 ] uses models with repeating parameter patterns and dierent tree structures for each data set; again, only special-purpose algorithms are used.”
Method
Monogenic Parkinsonisms and the genetics of Parkinson's disease.
Bonifati (2001) · PubMed · Cited by 3
Sleep in Neurodegenerative Diseases
Chokroverty, S. (1999) · CRC Press eBooks · doi:10.1201/9780824741914.ch10 · Cited by 3
Microglial activation in a mouse model of α-synuclein overexpression
Maguire‐Zeiss, K. A., Su, X., & Federoff, H. J. (2008) · Elsevier eBooks · doi:10.1016/b978-0-12-374028-1.00040-3 · Cited by 3
Mechanisms of Neuron Death in Neurodegenerative Diseases of the Elderly
Trojanowski, J. Q., Galvin, J. E., Schmidt, M. L., Tu, P., Iwatsubo, T., & Lee, V. M. ‐. (1998) · Elsevier eBooks · doi:10.1016/b978-012734610-6/50011-7 · Cited by 3
Two large Polish kindreds with levodopa-responsive Parkinsonism not linked to known Parkinsonian genes and loci
Krygowska‐Wajs, A., Hussey, J., Hulihan, M., Farrer, M. J., Tsuboi, Y., Uitti, R. J., & Wszołek, Z. K. (2003) · Parkinsonism & Related Disorders · doi:10.1016/s1353-8020(02)00036-6 · Cited by 3
“Studies to date have implicated eight chromosomal loci and identified mutations in four genes for different forms of familial Parkinsonism [1–11].”
Background
Identification of a risk haplotype of the α‐synuclein gene in Japanese with sporadic Parkinson's disease
Kobayashi, H., Ujike, H., Hasegawa, J., Yamamoto, M., Kanzaki, A., & Sora, I. (2006) · Movement Disorders · doi:10.1002/mds.21142 · Cited by 3
The role of anatomical pathology in understanding human movement disorders
Robinson, C. A. (2002) · Parkinsonism & Related Disorders · doi:10.1016/s1353-8020(02)00031-7 · Cited by 3
“Defects in the a-synuclein gene, found on chromosome 4q, are responsible for some Parkinson’s disease cases that are familial [7].”
Background
Molecular Etiology of Parkinson Disease: Recent Progress
Shastry, B. S. (2000) · The Neuroscientist · doi:10.1177/107385840000600406 · Cited by 3
A gene for Parkinson's disease?
Hawkes, C. H. (1996) · BMJ · doi:10.1136/bmj.313.7068.1278 · Cited by 3
“Last week the discovery of a highly penetrant genetic locus linked to Parkinson's disease came as a welcome breath of fresh air in the current sea of confusion. Polymeropoulos and colleagues performed a genome scan of the large Italian kindred with autosomal dominant inheritance mentioned above.”
Partnership for Parkinson’s Disease Research: Patient–Researcher–Clinician–Sponsor
Olden, K., Guthrie, J., & Lawler, C. P. (2002) · NeuroToxicology · doi:10.1016/s0161-813x(02)00030-x · Cited by 3
Exclusion of dominant mutations within the FTDP-17 locus on chromosome 17 for Parkinson's disease
Zareparsi, S., Wirdefeldt, K., Burgess, C. E., Nutt, J., Kramer, P. L., Schalling, M., & Payami, H. (1999) · Neuroscience Letters · doi:10.1016/s0304-3940(99)00581-9 · Cited by 3
Genetics of Parkinson's Disease
Sinha, K. (2005) · Jaypee Brothers Medical Publishers (P) Ltd. eBooks · doi:10.5005/jp/books/10587_5 · Cited by 3
Mapping of Nervous System Diseases via MicroRNAs
(2016) · CRC Press eBooks · doi:10.1201/b19229 · Cited by 3
The Effect of Intracellular Calcium Buffer Bapta on Epileptiform Activity of Hippocampal Neurons
Зинченко, В. П., Teplov, I. Y., Tyurin, F. V., Malibayeva, A. E., Kairat, B. K., & Tuleukhanov, S. T. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26157596 · Cited by 2
“Parkinson’s disease affects approximately 1% of the population over the age of 60 years, and grows to 4% at the age of 80 years [7,8].”
Link between Parkinson’s disease and melanoma: insights into the influence of the PARK gene family
Wu, J., Xiong, H., Chen, J.-H., Yang, D., Li, Y., Wang, J., Chen, J., Zhang, R., Zhang, R., Li, X., et al. (2025) · Frontiers in Oncology · doi:10.3389/fonc.2025.1506744 · Cited by 2
The development and emerging trends in Parkinson’s disease from the perspective of mitochondrial dysfunction: a bibliometric analysis using CiteSpace
Lu, Y., Chen, X., & Lai, Y. (2025) · Journal of Neurology · doi:10.1007/s00415-025-13472-8 · Cited by 2
Transient Interactions of α-Synuclein N- and C-Termini
Ortigosa-Pascual, L., Carrante, N. F., Bernfur, K., Makasewicz, K., Sparr, E., & Linse, S. S. (2026) · ACS Chemical Neuroscience · doi:10.1021/acschemneuro.6c00108 · Cited by 3
Tracking Genetic Parkinson's Disease with Molecular Imaging: A Systematic Review
Meneghini, C., Gallo, L., Sala, A., Valente, E. M., Avenali, M., & Caminiti, S. P. (2026) · Movement Disorders Clinical Practice · doi:10.1002/mdc3.70687 · Cited by 2
Eukaryotic translation initiation factor EIF4G1 p.Ser637Cys mutation in a family with Parkinson's disease with antecedent essential tremor
Liu, R.-H., Xiao, X.-Y., Yao, L., Jia, Y.-Y., Guo, J., Wang, X.-C., Kong, Y., & Kong, Q.-X. (2024) · Experimental and Therapeutic Medicine · doi:10.3892/etm.2024.12494 · Cited by 2
“Genome‑wide association studies and candidate gene association studies have collectively identified ≥90 common variants of independent loci that modify disease risk (56).”
Background
Alpha-synuclein modulates the positioning of endolysosomes in melanoma cells
Aloy, N. M., Ericsson, M., Hartman, B., & Witt, S. N. (2025) · Human Molecular Genetics · doi:10.1093/hmg/ddaf096 · Cited by 2
“Several genes may be involved in the co-occurrence of these two diseases [7–9] and one of them is SNCA , which is the gene that codes for the neuronal protein alpha-synuclein ( α -syn) [10].”
Symptomatic vs. Disease-Modifying Therapies
Espay, A. J., & Stecher, B. (2020) · Cambridge University Press eBooks · doi:10.1017/9781108888202.011 · Cited by 2
STUDIES OF THE EFFECTS OF DOPAMINE NEURON STIMULATING PEPTIDES IN RODENT MODELS OF NORMAL AND DYSFUNCTIONAL DOPAMINERGIC SYSTEMS
Fuqua, J. L. (2010) · UKnowledge (University of Kentucky) · Cited by 2
Effects of Progressive Neurological Disease on Interpersonal Relations Between Patients and Family Members
Sprinzeles, L. L. (1998) · Advances in behavioral biology · doi:10.1007/978-1-4615-5337-3_52 · Cited by 2
Biomarkers of Parkinson’s disease
Jin, H., Kanthasamy, A., Anantharam, V., & Kanthasamy, A. G. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-404630-6.00049-x · Cited by 2
Genetics of Parkinson Disease and Related Diseases
Goldman, J. S., & Fahn, S. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-410529-4.00068-1 · Cited by 2
Progress in the genetics of progressive supranuclear palsy: Tau gene and beyond
Bonifati, V. (2005) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-005-0027-y · Cited by 2
“Perhaps the stage is set for a major breakthrough in the field, similar to the one determined by the mapping of the first locus for PD, about 10 years ago [ 13 ].”
Method
α-Synuclein rs356219 polymorphisms in patients with Gaucher disease and Parkinson disease
Altarescu, G., Ioscovich, D., Alcalay, R. N., Zimran, A., & Elstein, D. (2014) · Neuroscience Letters · doi:10.1016/j.neulet.2014.07.051 · Cited by 2
History of Modern Genetics in Germany
Hammar, F. (2002) · Advances in biochemical engineering, biotechnology · doi:10.1007/3-540-44604-4_1 · Cited by 2
Gene Therapy From Theoretical Potential to Clinical Implementation
Sauderson, N. S. R., Castro, M. G., & Lowenstein, P. R. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.05502-1 · Cited by 2
Innate and Adaptive Immune-Mediated Neuroinflammation and Neurodegeneration in Parkinson’s Disease
Wilshusen, R. A., & Mosley, R. L. (2014) · Springer eBooks · doi:10.1007/978-1-4939-1071-7_7 · Cited by 2
“While most cases of PD have no family history of disease, point mutations in the gene encoding α-syn (SNCA; OMIM 163890) are linked to autosomal dominant parkinsonism (PARK1, OMIM 168601) [ 17 – 20 ] as are duplications and triplications of the SNCA gene (PARK4, OMIM 605543) [ 21 , 22 ], all of which increase the aber…”
Background
α-Synuclein and Parkinson's Disease
Gasser, T. (2009) · Blue books of neurology · doi:10.1016/b978-1-4160-6641-5.00003-9 · Cited by 2

Authors: Polymeropoulos, M. H., Higgins, J. J., Golbe, L. I., Johnson, W. G., Ide, S. E., Di Iorio, G., Sanges, G., Stenroos, E. S., Pho, L. T., Schaffer, A. A., Lazzarini, A. M., Nussbaum, R. L., & Duvoisin, R. C.
Affiliations: National Institutes of Health (US)
University of Medicine and Dentistry of New Jersey (US)
G. Di Iorio and G. Sanges, Istituto di Scienze Neurologiche, Facoltá di Medicina, Seconda Universitá degli Studi di Napoli, Naples, Italy.
University of Campania "Luigi Vanvitelli" (IT)
M. H. Polymeropoulos, S. E. Ide, A. A. Schaffer, R. L. Nussbaum, Laboratory of Genetic Disease Research, National Center for Human Genome Research, National Institutes of Health, Bethesda, MD 20892-1430, USA.
ORCID: Polymeropoulos, Mihael H.
Higgins, Joseph J.
Golbe, Lawrence I.
Nussbaum, Robert L.
Venue: Science
Publisher: American Association for the Advancement of Science (AAAS)
Published: 1996-11-15
Volume: 274
Issue: 5290
Pages: 1197-1199
ISSN: 0036-8075 (ISSN-L)
1095-9203
DOI: 10.1126/science.274.5290.1197
OpenAlex: W1999893655
Cited by: 788
References: 27
Citations by year: 2026: 9 · 2025: 29 · 2024: 21 · 2023: 27 · 2022: 26 · 2021: 18 · 2020: 41 · 2019: 20 · 2018: 21 · 2017: 26 · 2016: 18 · 2015: 23 · 2014: 27 · 2013: 23 · 2012: 17
FWCI: 38.08
Type: journal article
Language: en
Open access: green
zenodo.org
Licence: public-domain
Locations: Science (publishedVersion)
PubMed (publishedVersion)
Zenodo (CERN European Organization for Nuclear Research) (submittedVersion, public-domain)
Topics: Health Sciences › Medicine › Clinical Neurology › Parkinson's Disease Mechanisms and Treatments
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Health Sciences › Medicine › Clinical Neurology › Deep Brain Stimulation and Movement Disorders
Keywords: Parkinson's disease, genetic linkage, autosomal dominant inheritance, familial aggregation, gene mapping, neurodegenerative diseases
MeSH terms: Chromosome Mapping, Chromosomes, Human, Pair 4, Female, Genetic Markers, Humans, Genetic Linkage, Lod Score, Male, Parkinson Disease, Pedigree, Phenotype

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Mapping of a Gene for Parkinson's Disease to Chromosome 4q21-q23

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