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.
“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]
The 88-variant PRS explained a minimum 16% of the genetic liability of PD assuming a global prevalence of 0.5%.
“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]
Using LDSC on a meta-analysis of all 11 clinically-ascertained datasets, the liability-scale heritability of PD was estimated as 0.22 (95% CI 0.18-0.26).
“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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“Wild-type SYN overexpression as well as point mutations within the human α-synuclein gene result in familial PD (Abbas et al., 1999; Kitada et al., 1998; Kruger et al., 1998; Polymeropoulos, 2000; Polymeropoulos et al., 1996; Polymeropoulos et al., 1997; Singleton et al., 2003; Sveinbjornsdottir et al., 2000).”
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“The only defined causes of the disease are A53T and A30P mutations in the a-synuclein gene (Polymeropoulos et al., 1997; Goedert et al., 1999; Papadimitriou et al., 1999), but there has been much circumstantial evidence implicating oxidative stress in the etiology of the disease (Jenner and Olanow,…”
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“In Parkinson’s disease, the first SNCA mutation to be described was A53T in a Greek-Italian family [62] and this was subsequently identified in families of Asian, Swedish and Polish origin [5, 12, 42, 49, 59, 61, 66, 77].”
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“Linkage to markers on chromosome 4q21-q23 was demonstrated and the locus was designated PARK1.(26) Further analysis identified a mutation in exon 4 of the”
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Autophagy in Parkinson's Disease
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“PD has long been considered a non-genetic disease until the initial discovery of large families with autosomal dominant forms of PD [33, 34].”
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“Moreover, point mutations (A53T, A30P, E46K) and gene multiplications of human wild-type (hWT) a-synuclein are related to rare familial autosomal dominant forms of early-onset PD (Polymeropoulos et al., 1996; Kruger et al., 1998; Singleton et al., 2003; Zarranz et al., 2004).”
BackgroundFate of Midbrain Dopaminergic Neurons Controlled by the Engrailed Genes
Simon, H. H., Saueressig, H., Wurst, W., Goulding, M., & O’Leary, D. D. M. (2001) · Journal of Neuroscience · doi:10.1523/jneurosci.21-09-03126.2001 · Cited by 347 · see citing works
“PD, which affects 1–2% of humans during their lifetime (Polymeropoulos et al., 1996), can be caused by genetic and epigenetic factors (Tomac et al.”
BackgroundSpira, P. J., Sharpe, D. M., Halliday, G. M., Cavanagh, J., & Nicholson, G. A. (2001) · PubMed · Cited by 343 · see citing works
Targeting Alpha-Synuclein as a Therapy for Parkinson’s Disease
Fields, C. R., Bengoa‐Vergniory, N., & Wade‐Martins, R. (2019) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2019.00299 · Cited by 336 · see citing works
“Several decades later, in 1996, the first link between α-syn and the PD phenotype was established with the identification of the A53T point mutation on chromosome 4q21-23 (Polymeropoulos et al., 1996).”
BackgroundThe genetics and neuropathology of Parkinson’s disease
Houlden, H., & Singleton, A. (2012) · Acta Neuropathologica · doi:10.1007/s00401-012-1013-5 · Cited by 320 · see citing works
“genetic lesion to a region on the long arm of chromosome four [101].”
BackgroundDaniele, S. G., Béraud, D., Davenport, C., Cheng, K., Yin, H., & Maguire-Zeiss, K. A. (2015) · Science Signaling · doi:10.1126/scisignal.2005965 · Cited by 303 · see citing works
Age at Onset in Two Common Neurodegenerative Diseases Is Genetically Controlled
Li, Y.-J., Scott, W. K., Hedges, D. J., Zhang, F., Gaskell, P. C., Nance, M. A., Watts, R. L., Hubble, J. P., Koller, W. C., Pahwa, R., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/339815 · Cited by 312 · see citing works
“Similarly, three genes have been identified to associate with risk in PD: a-synuclein (Polymeropoulos et al. 1996) for rare autosomal dominant early-onset PD, Parkin (Abbas et al.”
BackgroundSchapira, A. H. V. (1999) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/s0005-2728(98)00164-9 · Cited by 310 · see citing works
Laviola, G., Hannan, A. J., Macrì, S., Solinas, M., & Jaber, M. (2008) · Neurobiology of Disease · doi:10.1016/j.nbd.2008.05.001 · Cited by 300 · see citing works
“While genetic studies have identified mutations as rare causes for familial parkinsonism (Polymeropoulos et al., 1996), the effects of life experience on the incidence of Parkinson's disease is suggested only from epidemiological studies (Olanow and Tatton, 1999).”
BackgroundGenetics of Parkinson's disease and parkinsonism
Hardy, J., Cai, H., Cookson, M., Gwinn, K. A., & Singleton, A. (2006) · Annals of Neurology · doi:10.1002/ana.21022 · Cited by 306 · see citing works
The Genetics of Parkinson Disease
Bekris, L. M., Mata, I. F., & Zabetian, C. P. (2010) · Journal of Geriatric Psychiatry and Neurology · doi:10.1177/0891988710383572 · Cited by 307 · see citing works
“The first gene unequivocally tied to PD (SNCA, PARK1 locus) was discovered through analysis of a large multigenerational Italian family (the Contursi Kindred) in which parkinsonism segregated in an autosomal dominant pattern.(12,13) Since then a total of 18 PD loci have been nominated through linkage analysis (PARK1-1…”
BackgroundHattori, N., Kitada, T., Matsumine, H., Asakawa, S., Yamamura, Y., Yoshino, H., Kobayashi, T., Yokochi, M., Wang, M., Yoritaka, A., et al. (1998) · Annals of Neurology · doi:10.1002/ana.410440612 · Cited by 295 · see citing works
Haines, J. L. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.8.1229 · Cited by 284 · see citing works
“Embedded in this complexity may be a small number of major, Mendelian genes that could account for a small proportion of disease, such as has been seen in Alzheimer disease (9) and Parkinson disease ( 10 ,11).”
BackgroundAlpha-synuclein and Parkinson's disease
Lücking, C. B., & Brice, A. (2000) · Cellular and Molecular Life Sciences · doi:10.1007/pl00000671 · Cited by 279 · see citing works
The genetic background of Parkinson's disease: current progress and future prospects
Kalinderi, K., Bostantjopoulou, S., & Fidani, L. (2016) · Acta Neurologica Scandinavica · doi:10.1111/ane.12563 · Cited by 280 · see citing works
“In 1996, by linkage mapping, the gene was located to the long arm of chromosome 4q21 (11) and a year later the finding of a chromosomal region linked to PD was confirmed by the identification of the missense mutation A53T in alpha synuclein in Italian and Greek families with autosomal dominant PD (6).”
BackgroundShimura, H., Hattori, N., Kubo, S., Yoshikawa, M., Kitada, T., Matsumine, H., Asakawa, S., Minoshima, S., Yamamura, Y., Shimizu, N., et al. (1999) · Annals of Neurology · doi:10.1002/1531-8249(199905)45:5 · Cited by 282 · see citing works
Familial Aggregation of Parkinson's Disease in Iceland
Sveinbjörnsdóttir, S., Hicks, A. A., Jónsson, T., Pétursson, H., Guðmundsson, G., Frigge, M. L., Kong, A., Gulcher, J. R., & Stefánsson, K. (2000) · New England Journal of Medicine · doi:10.1056/nejm200012143432404 · Cited by 275 · see citing works
Wagner, B. J., DeMaria, C. T., Sun, Y., Wilson, G. M., & Brewer, G. (1998) · Genomics · doi:10.1006/geno.1997.5142 · Cited by 274 · see citing works
Tyrosine Hydroxylase and Parkinson’s Disease
Haavik, J., & Toska, K. (1998) · Molecular Neurobiology · doi:10.1007/bf02741387 · Cited by 263 · see citing works
Zhang‐James, Y., James, M., Middleton, F. A., & Davis, R. L. (2005) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30195 · Cited by 261 · see citing works
“Interestingly, among the known genetic causes for PD are missense mutations in a-synuclein that make the protein more prone to aggregate [Polymeropoulos et al., 1996, 1997], as well as overexpression of wild-type asynuclein due to gene triplication [Singleton et al., 2003].”
BackgroundJunn, E., & Mouradian, M. M. (2002) · Neuroscience Letters · doi:10.1016/s0304-3940(02)00016-2 · Cited by 257 · see citing works
Residual Structure and Dynamics in Parkinson's Disease-associated Mutants of α-Synuclein
Bussell, R., & Eliezer, D. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m106777200 · Cited by 253 · see citing works
Aggregation of Neurofilament and α-Synuclein Proteins in Lewy Bodies
Trojanowski, J. Q., & Lee, V. M. (1998) · Archives of Neurology · doi:10.1001/archneur.55.2.151 · Cited by 255 · see citing works
The Role of Stable α-Synuclein Oligomers in the Molecular Events Underlying Amyloid Formation
Lorenzen, N., Nielsen, S. B., Buell, A. K., Kaspersen, J. D., Arosio, P., Vad, B. S., Pasławski, W., Christiansen, G., Valnickova-Hansen, Z., Andreasen, M., et al. (2014) · Journal of the American Chemical Society · doi:10.1021/ja411577t · Cited by 255 · see citing works
Alpha‐synuclein in Lewy Body Disease and Alzheimer's Disease
Hashimoto, M., & Masliah, E. (1999) · Brain Pathology · doi:10.1111/j.1750-3639.1999.tb00552.x · Cited by 251 · see citing works
“As mentioned previously, -synuclein has been shown to be mutated in some families with early onset PD (98, 99, 59).”
BackgroundThe foxa2 gene controls the birth and spontaneous degeneration of dopamine neurons in old age
Kittappa, R., Chang, W. W., Awatramani, R. B., & McKay, R. D. G. (2007) · PLoS Biology · doi:10.1371/journal.pbio.0050325 · Cited by 251 · see citing works
“These genes include a-synuclein [37], parkin [38], DJ-1 [39], PINK1 [40], and most recently, LRRK2 [41,42].”
A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor
Farrer, M. J. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.1.81 · Cited by 249 · see citing works
Inflammation and Adaptive Immunity in Parkinson's DiseasePreprint
Mosley, R. L., Hutter-Saunders, J. A. L., Stone, D. K., & Gendelman, H. E. (2011) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a009381 · Cited by 246 · see citing works
“…of disease, point mutations in the gene encoding a-syn (SNCA; OMIM 163890) are linked to autosomal-dominant parkinsonism (PARK1, OMIM 168601) (Polymeropoulos et al. 1996, 1997; Kruger et al. 1998; Zarranz et al. 2004), as are duplications and triplications of the SNCA gene (PARK4, OMIM…”
BackgroundRare genetic mutations shed light on the pathogenesis of Parkinson disease
Dawson, T. M., & Dawson, V. L. (2003) · Journal of Clinical Investigation · doi:10.1172/jci17575 · Cited by 239 · see citing works
The Genetics of Parkinson’s Disease and Implications for Clinical Practice
Day, J. O., & Mullin, S. (2021) · Genes · doi:10.3390/genes12071006 · Cited by 236 · see citing works
“Linkage studies identified an area of chromosome 4q that segregated with the disease [24].”
BackgroundZimprich, A. A., Müller-Myhsok, B., Farrer, M. J., Leitner, P., Sharma, M., Hulihan, M., Lockhart, P. J., Strongosky, A. J., Kachergus, J. M., Calne, D. B., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/380647 · Cited by 220 · see citing works
“A similar case of a phenocopy was found in the Contursi kindred (Polymeropoulos et al. 1996), the family in which a-synuclein was identified as the disease gene.”
BackgroundA gene (ETM) for essential tremor maps to chromosome 2p22‐p25
Higgins, J. J., Pho, L. T., & Nee, L. E. (1997) · Movement Disorders · doi:10.1002/mds.870120605 · Cited by 216 · see citing works
“X-linked spino-bulbar muscular atrophy (SBMA) (1 9), and familial Parkinson’s disease on chromosome 4q21q23 (20) have a tremor similar to that of patients with ET.”
BackgroundUbiquitin–proteasome system and Parkinson's disease
Olanow, C. W., & McNaught, K. S. P. (2006) · Movement Disorders · doi:10.1002/mds.21013 · Cited by 213 · see citing works
Rapid Anionic Micelle-mediated α-Synuclein Fibrillization in Vitro
Necula, M., Chirita, C. N., & Kuret, J. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m308231200 · Cited by 211 · see citing works
Neurotrophins and neurodegeneration
Dawbarn, D., & Allen, S. J. (2003) · Neuropathology and Applied Neurobiology · doi:10.1046/j.1365-2990.2003.00487.x · Cited by 210 · see citing works
Inheritance of Frontotemporal Dementia
Chow, T. W., Miller, B. L., Hayashi, V. N., & Geschwind, D. H. (1999) · Archives of Neurology · doi:10.1001/archneur.56.7.817 · Cited by 208 · see citing works
“Other relatively common heritable but more rare early-onset dementias include earlyonset familial Alzheimer disease, Creutzfeldt-Jakob disease, progressive supranuclear palsy, Parkinson disease with dementia, and pure Lewy body disease.(28-30) No autopsyderived prevalence estimates for the other heritable earlyonset d…”
BackgroundMitochondrial dysfunction in Parkinson’s disease
Hu, Q., & Wang, G. (2016) · Translational Neurodegeneration · doi:10.1186/s40035-016-0060-6 · Cited by 203 · see citing works
“SNCA (PARK1) that encodes α-syn was the first gene identified to be associated with familial PD [34, 35].”
BackgroundM1 and M2 immune activation in Parkinson’s Disease: Foe and ally?
Moehle, M. S., & West, A. B. (2014) · Neuroscience · doi:10.1016/j.neuroscience.2014.11.018 · Cited by 198 · see citing works
“Interestingly, the genes most strongly associated with PD (a-synuclein and tau) were already identified in neurodegeneration genetic linkage or GWAS (Golbe et al., 1996; Polymeropoulos et al., 1996; Polymeropoulos et al., 1997; Martin et al., 2001; Zhang et al., 2005a).”
BackgroundInfluentialα-Synuclein Alters Toll-Like Receptor Expression
Béraud, D., Twomey, M. A., Bloom, B., Mittereder, A., Ton, V., Neitzke, K., Chasovskikh, S., Mhyre, T. R., & Maguire‐Zeiss, K. A. (2011) · Frontiers in Neuroscience · doi:10.3389/fnins.2011.00080 · Cited by 199 · see citing works
Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese
Gwinn, K. A., Chen, J. Y., Liu, H.-C., Liu, T., Boss, M., Seltzer, W. K., Adam, A., Singleton, A., Koroshetz, W. J., Waters, C., et al. (2000) · Neurology · doi:10.1212/wnl.55.6.800 · Cited by 197 · see citing works
Implications of gene copy-number variation in health and diseases
Almal, S. H., & Padh, H. (2011) · Journal of Human Genetics · doi:10.1038/jhg.2011.108 · Cited by 188 · see citing works
Point Mutations (Thr240Arg and Ala311Stop) in theParkinGene
Hattori, N., Matsumine, H., Asakawa, S., Kitada, T., Yoshino, H., Elibol, B., Brookes, A. J., Yamamura, Y., Kobayashi, T., Wang, M., et al. (1998) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1998.9134 · Cited by 181 · see citing works
Genes, proteins, and neurotoxins involved in Parkinson’s disease
Halbach, O. V. B. U., Schober, A., & KRIEGLSTEIN, K. G. (2004) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2004.05.002 · Cited by 178 · see citing works
Mutations in the GIGYF2 (TNRC15) Gene at the PARK11 Locus in Familial Parkinson Disease
Lautier, C., Goldwurm, S., Dürr, A., Giovannone, B., Tsiaras, W. G., Pezzoli, G., Brice, A., & Smith, R. J. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.01.015 · Cited by 177 · see citing works
Aluminum-containing antacids as a cause of idiopathic Parkinson's disease
Altschuler, E. (1999) · Medical Hypotheses · doi:10.1054/mehy.1997.0701 · Cited by 173 · see citing works
Rotenone-Induced Model of Parkinson’s Disease: Beyond Mitochondrial Complex I Inhibition
Ibarra-Gutiérrez, M. T., Serrano‐García, N., & Orozco‐Ibarra, M. (2023) · Molecular Neurobiology · doi:10.1007/s12035-022-03193-8 · Cited by 173 · see citing works
“Mutations were identified for the first time in an Italian family and unrelated Greek family trees [22, 23] and, later, in a German [24] and a Spanish [25] family with juvenile PD.”
BackgroundAn updated review of Parkinson's disease genetics and clinicopathological correlations
Ferreira, M., & Massano, J. (2017) · Acta Neurologica Scandinavica · doi:10.1111/ane.12616 · Cited by 167 · see citing works
Gasser, T., Hardy, J., & Mizuno, Y. (2011) · Movement Disorders · doi:10.1002/mds.23637 · Cited by 166 · see citing works
“By classic linkage analysis, Polymeropoulos et al mapped the disease locus in a large Italian family with autosomal-dominant PD(5) to the long arm of chromosome 4.(6) Only a year later, the same group identified a putative disease-causing mutation in a known gene in the region called a-synuclein (the gene is abbreviat…”
BackgroundProtein aggregation in the pathogenesis of familial and sporadic Parkinson's disease
McNaught, K. S. P., & Olanow, C. W. (2005) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2005.08.012 · Cited by 165 · see citing works
Perfeito, R., Cunha‐Oliveira, T., & Rego, A. C. (2013) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2013.05.042 · Cited by 165 · see citing works
“SNCA (also known as PARK1) was the first gene identified in a large Italian family (Contursi kindred) segregating a pathogenic missense mutation—A53T—causing dominantly inherited PD and LB pathology [38,39].”
BackgroundMendelian forms of Parkinson's disease
Gasser, T. (2009) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2008.12.007 · Cited by 161 · see citing works
“By linkage mapping, the gene was located to the long arm of chromosome 4 [21] and a missense mutation (Ala53Thr) in the gene for α-synuclein (SNCA) was found to segregate with the disease in all but one affected (this”
BackgroundLEWITT, M. S., & Boyd, G. W. (2019) · Biochemistry Insights · doi:10.1177/1178626419842176 · Cited by 160 · see citing works
The cell biology of Parkinson’s disease
Panicker, N., Ge, P., Dawson, V. L., & Dawson, T. M. (2021) · The Journal of Cell Biology · doi:10.1083/jcb.202012095 · Cited by 164 · see citing works
“However, in the 1990s, observations of Mendelian PD inheritance patterns within certain families led to the identification of SNCA, which codes for the α-synuclein (α-syn) protein, as the causal gene (Polymeropoulos et al., 1996; Polymeropoulos et al., 1997).”
BackgroundLeroy, E., Anastasopoulos, D., Konitsiotis, S., Lavedan, C. N., & Polymeropoulos, M. H. (1998) · Human Genetics · doi:10.1007/s004390050845 · Cited by 159 · see citing works
“Two loci are known for the autosomal dominant familial Parkinson’s disease (ADFPD), one on chromosome 4q22 (Polymeropoulos et al. 1996) and one on chromosome 2p13 (Gasser et al. 1998).”
Genetic basis of Parkinson's disease: inheritance, penetrance, and expression
Gasser, T. (2011) · The Application of Clinical Genetics · doi:10.2147/tacg.s11639 · Cited by 158 · see citing works
Magalhães, P., & Lashuel, H. A. (2022) · npj Parkinson s Disease · doi:10.1038/s41531-022-00357-0 · Cited by 157 · see citing works
Genetics of Parkinson's disease
Nussbaum, R. L. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.10.1687 · Cited by 155 · see citing works
“In one such family, from the town of Contursi near Salerno in Italy (56), linkage analysis has allowed the gene for PD with autopsy-proven diffuse Lewy body disease to be mapped to the long arm of chromosome 4 at 4q21–q23 (59).”
BackgroundFamilial parkinsonism with synuclein pathology
Krüger, R., Kuhn, W., Leenders, K. L., Sprengelmeyer, R., Müller, T., Woitalla, D., Portman, A. T., Maguire, R. P., Veenma, L., Schröder, U., et al. (2001) · Neurology · doi:10.1212/wnl.56.10.1355 · Cited by 154 · see citing works
Schildknecht, S., Gerding, H. R., Karreman, C., Drescher, M., Lashuel, H. A., Outeiro, T. F., Di Monte, D. A., & Leist, M. (2013) · Journal of Neurochemistry · doi:10.1111/jnc.12226 · Cited by 148 · see citing works
Parkinson’s disease and enhanced inflammatory response
Stojkovska, I., Wagner, B. M., & Morrison, B. E. (2015) · Experimental Biology and Medicine · doi:10.1177/1535370215576313 · Cited by 146 · see citing works
“The first gene attributed to familial PD was alpha-synuclein (SNCA).(80) The function of alpha-synuclein is still unknown but evidence indicates it localizes to presynaptic terminals suggesting a possible role in neurotransmitter release.”
Background
- 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 › Neurology › Parkinson's Disease Mechanisms and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Neurology › Neurological disorders and treatments
- 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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