The DOI matches its Crossref record; 26 of the 27 references it cites were found in a registry or an index.
Mapping of a Gene for Parkinson's Disease to Chromosome 4q21-q23
Open accessAbstract
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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“In a high-risk population with a prevalence of 2%, the 1805 variant PRS explained a maximum 36% of PD heritable risk (2,31) (Table S4).”
From Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies (2019) · cites this paper as [2]
In the citing paper
“Using equations from Wray et al. 2010 and our current heritability estimates, the 88 variant PRS explained a minimum 16% of the genetic liability of PD assuming a global prevalence of 0.5% (2,31).”
From Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies (2019) · cites this paper as [2]
In the citing paper
“Using LDSC on a meta-analysis of all 11 clinically-ascertained datasets from our GWAS and estimated the liability-scale heritability of PD as 0.22 (95% CI 0.18 – 0.26), only slightly lower than a previous estimate derived using GCTA (0.27, 95% CI 0.17 – 0.38) (2,16,30).”
From Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies (2019) · cites this paper as [2]
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“Key familial PD genes include SNCA (α-synuclein), which underlies autosomal-dominant forms of PD [30], and PARK2 (parkin), mutations in which cause autosomal-recessive juvenile parkinsonism [31]. α-Synuclein aggregation, a major component of Lewy body formation, is exacerbated by oxidative stress,…”
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“In 1996, Polymeropoulos and colleagues mapped the genetic defect responsible for disease in the Contursi kindred to chromosome 4q21-23 (PARK1) (38).”
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“Interest in a genetic cause of PD has been fueled by the discovery of a genetic marker (the PDl marker) on chromosome 4q21-q23 linked to the PD phenotype in a large kindred with autosomal-dominant PD.(15) This discovery is an exciting new step in our knowledge of the genetics of the familial form of PD, but it is unli…”
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“Almost two decades after the first mutation responsible for Parkinson’s disease (PD) was identified (Polymeropoulos et al., 1996), Dr Christine Klein (University of Lübeck, Germany) spoke on translation of genetic findings into pathways to therapy and prevention, as based on the Parkinson example.”
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“Linkage to chromosome 4 was reported in a large Italian kindred multiply affected by an early-onset form of PD (1).”
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Metadata
- 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.
- Venue
- Science
- Published
- 1996-11-15
- Volume
- 274
- Issue
- 5290
- Pages
- 1197-1199
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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