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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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“suggests that there may also be a genetic contribution to its aetiology. Such a hypothesis is supported by the detection on chromosome 4 q21-q23 of genetic markers linked with the Parkinson’s disease phenotype in a large kindred with autosomal dominant disease, in whom the mutation of the α-synucleine gene was discove…”
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Hu, C., Sung, S., Liu, H., Lee, C.-C., Tsai, C., & Chang, J. (2000) · European Neurology · doi:10.1159/000008203 · Cited by 36
“However, no mutation or polymorphism in these genes has been conclusively identified in familial and sporadic PD patients.A point mutation in the α-synuclein gene was linked to autosomal dominant familial PD [”
BackgroundLeucine-rich repeat kinase 2 inhibitors: a patent review (2014-present)
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“identified disease-causing gene for PD in 1996 [12].”
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“Different types of mutations (nonsense and missense point mutations, deletions, multiplications) have been found in both genes, suggesting a loss-offunction mechanism.”
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Mohan, M., & Mellick, G. D. (2016) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2016.12.001 · Cited by 36
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“Parkinson’s disease (PD) was the second most common progressive neurodegenerative disease after Alzheimer’s disease [15].”
BackgroundCloning and Mapping of theUNC5CGene to Human Chromosome 4q21–q23
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“Autosomal dominant families that have suf®cient power to detect linkage have been demonstrated in Parkinson's disease, Alzheimer's disease and breast cancer among others (St. George-Hyslop et al., 1987; Hall et al., 1990; Polymeropoulos et al., 1996).”
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Genetic dissection of familial Parkinson's disease
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“The a-synuclein protein is encoded by the SNCA gene on the long arm of chromosome 4.([219]) A study showed that genetic variability has a significant effect on SNCAmRNA levels in the substantia nigra and the cerebellum.”
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“of a heritable component is derived from observations in PD, which can rarely present in a familial, autosomal dominant fashion due to mutations in SNCA (duplication, multiplication or missense mutations) [28,30,68–72,124].”
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“Ala53Thr (21) None Protein domain Protein kinase N-terminal region RING1 POLYPHEN prediction Probably damaging Benign Benign SIFT prediction Tolerated Affect protein function Affect protein function Amino acid conservation Highly conserved Poorly conserved Highly conserved Normal allele frequency 2/342 (0.”
BackgroundGenetics of neurological disorders
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A genome scan in a single pedigree with a high prevalence of multiple sclerosis
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Further evidence for an association between a mutation in the APP gene and Lewy body formation.
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“On the other hand, genetic factors for PD identi fi ed in the past decade range from rare mutations underpinning familial disease 10 – 12 to large-scale genome-wide association studies (GWAS) unmasking the polygenic in fl uencesonidiopathicPD 1,13 .”
BackgroundDefects of Nutrient Signaling and Autophagy in Neurodegeneration
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“The genetic study of PD started in 1997 with the discovery of a missense variant (A53T) in SNCA in a large Italian family with PD (Polymeropoulos et al., 1996).”
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Phenotypic Commonalities in Familial and Sporadic Parkinson Disease
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“Initial motor symptom Tremor 15 (54)* 613 (48) 94 (49) 519 (48) Bradykinesia 7 (25)* 364 (28) 55 (29) 309 (28) Rigidity 6 (21)* 67 (5) 11 (6) 56 (5) Postural instability or gait disturbance 0 138 (11) 17 (9) 121 (11) Other† 0 95 (8) 13 (7) 82 (8) Missing 12 (3) 0 0 0 Location of initial motor symptom Right upper extre…”
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“Affecteds-only analysis was applied due to the wide range of disease onset and because penetrance may be uncertain, as has been observed in other loci predisposing to familial Parkinson's disease (Polymeropoulos et al., 1996).”
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“GENETIC VERSUS ENVIRONMENTAL INFLUENCES IN PARKINSONISM In recent years, a number of reports have investigated the genetic defects in familial Parkinsonism (e.g. Golbe et al., 1996; Ishikawa and Tsuji, 1996; Morrison et al., 1996; Polymeropoulos et al., 1996; 1998).”
BackgroundGenetics of Parkinson’s Disease - A Clinical Perspective
Cheon, S., Chan, L., Chan, D. K. Y., & Kim, J. W. (2012) · Journal of Movement Disorders · doi:10.14802/jmd.12009 · Cited by 27
Disrupted myelination network in the cingulate cortex of Parkinson's disease
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“recent work (5) and that of others (1, 2, 6) have demonstrated”
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“The steps included in this analysis were (1) Despiking: the shrinking of any large spikes in the fMRI time series, (2) time shifting: the correction of slice timing differences, (3) Aligning: determining the alignment between the fMRI time series and anatomical T1, (4) Spatial normalization: determining the alignment…”
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Genomic organization and expression of parkin in Drosophila melanogaster
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Vertebrate food products as a potential source of prion-like α-synuclein
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Genetic Evidence for Endolysosomal Dysfunction in Parkinson’s Disease: A Critical Overview
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“233 Most of the motor manifestations of this disease are an avenue of loss of dopaminergic innervations, 234 and PD also shows nonmotor features, including depression, disorders related to sleep, anxiety, hyposmia, constipation, psychosis, cognitive dysfunction, and depression.”
BackgroundHuman gene therapy and imaging in neurological diseases
Jacobs, A. H., Winkler, A., Castro, M. G., & Lowenstein, P. R. (2005) · European Journal of Nuclear Medicine and Molecular Imaging · doi:10.1007/s00259-005-1960-3 · Cited by 23
“Genetic factors include mutations in the alpha-synuclein (PARK1) and parkin (PARK2) genes [131, 132].”
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Potential Tear Biomarkers for the Diagnosis of Parkinson’s Disease—A Pilot Study
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“These studies attempted to determine if the toxic species correspond to the insoluble fibrillary proteins found mainly in the LBs or, conversely, to the pre-fibrillary protein oligomers or protofibrils.”
BackgroundInfluentialProteolytic Dysfunction in Neurodegenerative Disorders
McNaught, K. S. P. (2004) · International review of neurobiology · doi:10.1016/s0074-7742(04)62003-4 · Cited by 24
Lahut, S., Gispert, S., Ömür, Ö., Depboylu, C., Seidel, K., Domínguez-Bautista, J. A., Brehm, N., Tireli, H., Hackmann, K., Cetinkaya, C. P., et al. (2017) · Disease Models & Mechanisms · doi:10.1242/dmm.028035 · Cited by 23
“Twenty-five years ago, the characterization of the large Italian Contursi PARK1 kindred triggered research into PD genetics (Golbe et al., 1990; Polymeropoulos et al., 1996, 1997).”
BackgroundPolymyositis and pregnancy: report of a case with three pregnancies
Papapetropoulos, T., KANELLAKOPOULOU, N., Tsibri, E., & Paschalis, C. (1998) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.64.3.406 · Cited by 22
Hattori, N., Shimura, H., Kubo, S., Wang, M., Shimizu, N., Tanaka, K., & Mizuno, Y. (2000) · Springer eBooks · doi:10.1007/978-3-7091-6301-6_6 · Cited by 22
Towards a Biological Definition of Parkinson’s DiseasePreprint
Höglinger, G. U., Adler, C. H., Berg, D., Klein, C., Outeiro, T. F., Poewe, W. H., Postuma, R. B., Stoessl, A. J., & Lang, A. E. (2023) · Preprints.org · doi:10.20944/preprints202304.0108.v1 · Cited by 22
Sex and Age Differences in a Progressive Synucleinopathy Mouse Model
Lamontagne‐Proulx, J., Coulombe, K., Morissette, M., Rieux, M., Calon, F., Paolo, T. D., & Soulet, D. (2023) · Biomolecules · doi:10.3390/biom13060977 · Cited by 21
Sultana, Z., Paleologou, K. E., Al-Mansoori, K. M., Ardah, M. T., Singh, N., Usmani, S., Jiao, H., Martin, F. L., Bharath, M. M. S., Vali, S., et al. (2011) · Neuroscience · doi:10.1016/j.neuroscience.2011.10.018 · Cited by 21
History of Parkinson's disease
Goldman, J. G., & Goetz, C. G. (2007) · Handbook of clinical neurology · doi:10.1016/s0072-9752(07)83005-3 · Cited by 21
Ubiquitin-protein ligase parkin and its role in the development of Parkinson’s disease
Бунеева, О. А., & Medvedev, A. E. (2006) · Biochemistry (Moscow) · doi:10.1134/s0006297906080050 · Cited by 21
Familial occurrence of Parkinson's disease in a community-based case-control study
Kuopio, A., Marttila, R. J., Helenius, H. Y. M., & Rinne, U. K. (2001) · Parkinsonism & Related Disorders · doi:10.1016/s1353-8020(00)00051-1 · Cited by 21
Parkinson’s Genetics: Molecular Insights for the New Millennium
Skipper, L. M., & Farrer, M. J. (2002) · NeuroToxicology · doi:10.1016/s0161-813x(02)00038-4 · Cited by 21
Parkinson's Disease: Genetics and Pathogenesis
Testa, C. M. (2007) · Wiley eBooks · doi:10.1002/9780470101001.hcn063 · Cited by 21
Genetics of Parkinson’s Disease: state-of-the-art and role in clinical settings
Dulski, J., Ross, O. A., & Wszołek, Z. K. (2024) · Neurologia i Neurochirurgia Polska · doi:10.5603/pjnns.97806 · Cited by 20
Son, S. M., Siddiqi, F. H., López, A., Ansari, R. A., Tyrkalska, S. D., Park, S. J., Kunath, T., Metzakopian, E., Fleming, A., & Rubinsztein, D. C. (2025) · Neuron · doi:10.1016/j.neuron.2025.03.028 · Cited by 24
“4 The penetrance of these missense mutations appears to be high and is suggested to be as high as 85% for p.A53T. 5,6 The mechanisms by which a -Syn induces neurodegeneration in PD remain poorly understood.”
Identifying PD-causing genes and genetic susceptibility factors
Gasser, T. (2010) · Progress in brain research · doi:10.1016/s0079-6123(10)83001-8 · Cited by 20
Saravi, S. S. S., Saravi, S. S. S., Khoshbin, K., & Dehpour, A. R. (2017) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2017.04.038 · Cited by 20
Vareed, S. K., Bhat, V. B., Thompson, C., Vasu, V. T., Fermin, D., Choi, H., Creighton, C. J., Gayatri, S., Lan, L., Putluri, N., et al. (2011) · PLoS ONE · doi:10.1371/journal.pone.0017177 · Cited by 20
“Similarly, elevated levels of an additional Parkinson’s disease associated protein PARK7 (DJ1) [34], in pancreatic ductal juice of adenocarcinomas corroborate an earlier report [31].”
BackgroundInfluentialMarzban, H., Kong, J., Mehr, S. E., Vriend, J. P., Li, J., Guan, T., Chung, S., Mirzaei, N., Marzban, A., Shojaei, S., et al. (2016) · Current Molecular Pharmacology · doi:10.2174/1874467209666160112125446 · Cited by 20
Hu, C., Sung, S., Liu, H., & Chang, J. (1999) · European Neurology · doi:10.1159/000008008 · Cited by 20
“However, no single gene mutation or polymorphism has definitely been identified in familial and sporadic PD patients.Mapping of a gene for familial PD to chromosome 4q21–q23 was reported in 1996 by Polymeropoulos et al. [”
BackgroundIn vivo basal ganglia volumetry through application of NURBS models to MR images
Anastasi, G., Cutroneo, G., Tomasello, F. F., Lucerna, S., Vitetta, A., Bramanti, P., Bella, P. D., Parenti, A. R., Porzionato, A., Macchi, V., et al. (2006) · Neuroradiology · doi:10.1007/s00234-005-0041-4 · Cited by 20
“BG disorders show high prevalence in the population, and Parkinson’s disease affects approximately 1% of the population over the age of 50 years [3].”
BackgroundThe genetics of Parkinsonʼs disease
Spacey, S. D., & Wood, N. W. (1999) · Current Opinion in Neurology · doi:10.1097/00019052-199908000-00009 · Cited by 20
Chew, E. G. Y., Liu, Z., Li, Z., Chung, S. J., Lian, M. M., Tandiono, M., Heng, Y. J., Ng, E., Tan, L. C. S., Chng, W. L., et al. (2024) · Nature Aging · doi:10.1038/s43587-024-00760-7 · Cited by 23
Genotype–phenotype correlation: Familial Parkinson disease
Mori, H., Hattori, N., & Mizuno, Y. (2003) · Neuropathology · doi:10.1046/j.1440-1789.2003.00476.x · Cited by 19
Point of view: Dementia in Parkinson's disease
LIEBERMAN, A. N. (1997) · Parkinsonism & Related Disorders · doi:10.1016/s1353-8020(97)00017-5 · Cited by 19
Clinical, diagnostic, genetic and management issues in dementia with Lewy bodies
Boeve, B. F. (2005) · Clinical Science · doi:10.1042/cs20050098 · Cited by 19
The Role of Astrocytes and Alpha-Synuclein in Parkinson’s Disease: A Review
Brash-Arias, D., García, L. I., Pérez-Estudillo, C. A., Rojas-Durán, F., Aranda-Abreu, G. E., Herrera‐Covarrubias, D., & Chi-Castañeda, D. (2024) · NeuroSci · doi:10.3390/neurosci5010005 · Cited by 20
“Although families with such mutations are uncommon, this discovery revealed that alpha-synuclein ( α -syn) is an important component of LBs, even in sporadic PD patients [10,11].”
Parkin as a Molecular Bridge Linking Alzheimer’s and Parkinson’s Diseases?
Checler, F., & da Costa, C. A. (2022) · Biomolecules · doi:10.3390/biom12040559 · Cited by 19
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
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