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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Parkin immunoreactivity in the brain of human and non‐human primates: An immunohistochemical analysis in normal conditions and in Parkinsonian syndromes
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“In 1996, the first locus for autosomal dominantly inherited parkinsonismwasmapped to chromosome 4q21-q23 in theContursi kindred, a large kindred of Italian descent [96].”
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Chasing genes in Alzheimer?s and Parkinson?s disease
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Parkinson's disease: Exit toxins, enter genetics
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“The first finding strengthening the involvement of genetic risk factors in Parkinson’s disease was the identification of the PARK1 locus on chromosome 4q21, linking to familial forms of the disease (Polymeropoulos et al., 1996).”
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“Two mutations (G209A and G88C) in the a-synuclein gene were discovered in several large unrelated PD families of Italy, Germany and Spain [18].”
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GSTM1 and mEPHX Polymorphisms in Parkinson's Disease and Age of Onset
Ahmadi, A., Fredrikson, M. G., Jerregård, H., Åkerbäck, A., Fall, P., Rannug, A., Axelson, O., & Söderkvist, P. (2000) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.2000.2338 · Cited by 48
Curcumin's Neuroprotective Efficacy in Drosophila Model of Idiopathic Parkinson's Disease Is Phase Specific: Implication of its Therapeutic Effectiveness
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“Parkinson’s disease (PD) is the second most common neurodegenerative disorder after Alzheimer’s disease and affects approximately 1% of the population over age 50.(1) Selective degeneration of dopaminergic (DA) neurons in the substantia nigra (SN) underlies the basic motor impairments of PD.”
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Genetic analysis of the RAB39B gene in Chinese Han patients with Parkinson's disease
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Molecular Determinants of α-Synuclein Mutants’ Oligomerization and Membrane Interactions
Tsigelny, I. F., Sharikov, Y., Kouznetsova, V. L., Greenberg, J. P., Wrasidlo, W., Overk, C., Gonzalez, T., Trejo, M., Spencer, B. J., Kosberg, K. A., et al. (2015) · ACS Chemical Neuroscience · doi:10.1021/cn500332w · Cited by 45
The Etiopathogenesis of Parkinson Disease and Suggestions for Future Research. Part II
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“In 1996, Polymeropoulos et al (47) identified the first gene associated with familial parkinsonism that encodes for the protein >-synuclein.”
Background
Future directions for immune modulation in neurodegenerative disorders: focus on Parkinson’s disease
Maguire‐Zeiss, K. A., & Federoff, H. J. (2010) · Journal of Neural Transmission · doi:10.1007/s00702-010-0431-6 · Cited by 46
“The first gene associated with PD was a-synuclein (SCNA) wherein both mutations and gene multiplication lead to early onset disease (Polymeropoulos et al. 1996; Kruger et al. 1998; Polymeropoulos 2000; Singleton et al. 2003, 2004; Ahn et al. 2008).”
Background
Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22–23
Dahdaleh, F., Carr, J. C., Calva, D., & Howe, J. R. (2011) · Clinical Genetics · doi:10.1111/j.1399-0004.2011.01763.x · Cited by 44
“Cytogenetic analysis of Giemsa/Trypsin/Leishman-banded chromosomes revealed a karyotype of 46,XY,del(10)(q23.”
BackgroundMethodInfluential
Analysis of the α-synuclein G209A mutation in familial Parkinson's disease
Zareparsi, S., Kay, J., Camicioli, R. M., Kramer, P., Nutt, J. G., Bird, T. D., Litt, M. J., & Payami, H. (1998) · The Lancet · doi:10.1016/s0140-6736(05)78089-2 · Cited by 44
α-Synuclein Conformational Strains as Drivers of Phenotypic Heterogeneity in Neurodegenerative Diseases
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Future of neuroprotection in Parkinson's disease
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Structures and Free Energy Landscapes of the Wild-Type and A30P Mutant-Type α-Synuclein Proteins with Dynamics
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Association between the gene encoding the E2 subunit of the α‐ketoglutarate dehydrogenase complex and Parkinson's disease
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“In 1996, Polymeropoulos and colleagues identified genetic linkage to Lewy body parkinsonism in the Contursi kindred (15, 20 ).”
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Haploinsufficiency at the -synuclein gene underlies phenotypic severity in familial Parkinson's disease
Kobayashi, H., Krüger, R., Markopoulou, K., Wszołek, Z. K., Chase, B. A., Taka, H., Mineki, R., Murayama, K., Rieß, O., Mizuno, Y., et al. (2002) · Brain · doi:10.1093/brain/awg010 · Cited by 43
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α-Synuclein: A therapeutic target for Parkinson’s disease?
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“The PD phenotype in the Contursi kindred was later mapped to chromosome 4q21-23 by linkage analysis [21].”
Method
Genetics and Phenotyping of Urological Chronic Pelvic Pain Syndrome
Dimitrakov, J. D., & Guthrie, D. (2009) · The Journal of Urology · doi:10.1016/j.juro.2008.11.119 · Cited by 42
No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population
Fachal, L., Mosquera‐Miguel, A., Pástor, P., Ortega‐Cubero, S., Lorenzo, E., Durán, A. O., Toriello, M., Quintáns, B., Camiña-Tato, M., Sesar, Á., et al. (2014) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32276 · Cited by 43
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Background
In vivo gene delivery for development of mammalian models for Parkinson's disease
Ulusoy, A., Björklund, T., Hermening, S., & Kirik, D. (2007) · Experimental Neurology · doi:10.1016/j.expneurol.2007.09.011 · Cited by 42
Familial Occurrence of Dementia With Lewy Bodies
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DNA methylation as a mediator of genetic and environmental influences on Parkinson’s disease susceptibility: Impacts of alpha-Synuclein, physical activity, and pesticide exposure on the epigenome
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Influence of Different Promoters on the Expression Pattern of Mutated Human α-Synuclein in Transgenic Mice
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Identification and developmental analysis of genes expressed by dopaminergic neurons of the substantia nigra pars compacta.
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“The disease affects approximately 1– 2% of the human population after the age of 65 ( Polymeropoulos et al., 1996 ).”
Background
Progress in the clinical and molecular genetics of familial parkinsonism
Kitada, T., Asakawa, S., Matsumine, H., Hattori, N., Shimura, H., Minoshima, S., Shimizu, N., & Mizuno, Y. (2000) · Neurogenetics · doi:10.1007/s100489900083 · Cited by 41
“Polymeropoulos et al. [ 17 ] performed linkage analysis on a large PD family of Italian origin (Contursi kindred) and mapped the disease locus to 4q21-q23.”
Background
Kynurenines in Parkinson’s disease: therapeutic perspectives
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“…functioning of several genes and gene products has been identified (reviewed by Bekris et al. 2010), e.g. that of a-synuclein (PARK1/PARK4; Polymeropoulos et al. 1996, Farrer et al. 1999), parkin (PARK2; Matsumine et al. 1997), phosphatase and tensin homologue [PTEN]-induced putative…”

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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