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Genetics of Parkinson's disease.
Cherian A, Divya KP. Cherian A, et al. Acta Neurol Belg. 2020 Dec;120(6):1297-1305. doi: 10.1007/s13760-020-01473-5. Epub 2020 Aug 19. Acta Neurol Belg. 2020. PMID: 32813147 Review.
Less than a quarter century after the discovery of SNCA as the first attributable gene in Parkinson's disease (PD), our knowledge of the genetic architecture underlying this disease has improved by leaps and bounds. About 5-10% of all patients suffer f …
Less than a quarter century after the discovery of SNCA as the first attributable gene in Parkinson's disease (PD), our knowle …
Genetics of Parkinson's disease.
Lill CM. Lill CM. Mol Cell Probes. 2016 Dec;30(6):386-396. doi: 10.1016/j.mcp.2016.11.001. Epub 2016 Nov 4. Mol Cell Probes. 2016. PMID: 27818248 Review.
Almost two decades after the identification of SNCA as the first causative gene in Parkinson's disease (PD) and the subsequent understanding that genetic factors play a substantial role in PD development, our knowledge of the genetic architecture underlying this …
Almost two decades after the identification of SNCA as the first causative gene in Parkinson's disease (PD) and the subsequent …
The VPS35 gene and Parkinson's disease.
Deng H, Gao K, Jankovic J. Deng H, et al. Mov Disord. 2013 May;28(5):569-75. doi: 10.1002/mds.25430. Epub 2013 Mar 27. Mov Disord. 2013. PMID: 23536430 Review.
Parkinson's disease (PD), the second most common age-related neurodegenerative disease, is characterized by loss of dopaminergic and nondopaminergic neurons, leading to a variety of motor and nonmotor symptoms. ...Recently, the identification of the vacuolar …
Parkinson's disease (PD), the second most common age-related neurodegenerative disease, is characterized by loss of dop …
Genetics of Parkinson disease.
Pankratz N, Foroud T. Pankratz N, et al. Genet Med. 2007 Dec;9(12):801-11. doi: 10.1097/gim.0b013e31815bf97c. Genet Med. 2007. PMID: 18091429 Free article. Review.
During the past decade five genes have been identified that are important in autosomal dominant and autosomal recessive forms of Parkinson disease. ...Thus, researchers have continued to search for genes that may influence disease susc …
During the past decade five genes have been identified that are important in autosomal dominant and autosomal recessive …
Genetics of Parkinson's disease--state of the art, 2013.
Bonifati V. Bonifati V. Parkinsonism Relat Disord. 2014 Jan;20 Suppl 1:S23-8. doi: 10.1016/S1353-8020(13)70009-9. Parkinsonism Relat Disord. 2014. PMID: 24262182 Review.
In the past 15 years there has been substantial progress in our understanding of the genetics of Parkinson's disease (PD). Highly-penetrant mutations in different genes (SNCA, LRRK2, VPS35, Parkin, PINK1, and DJ-1) are known to cause rare monogenic forms of the d …
In the past 15 years there has been substantial progress in our understanding of the genetics of Parkinson's disease (PD). Hig …
The role of monogenic genes in idiopathic Parkinson's disease.
Reed X, Bandrés-Ciga S, Blauwendraat C, Cookson MR. Reed X, et al. Neurobiol Dis. 2019 Apr;124:230-239. doi: 10.1016/j.nbd.2018.11.012. Epub 2018 Nov 15. Neurobiol Dis. 2019. PMID: 30448284 Free PMC article. Review.
In the past two decades, mutations in multiple genes have been linked to autosomal dominant or recessive forms of monogenic Parkinson's disease (PD). ...Importantly, there is overlap between monogenic and sporadic PD genes, particularly for the loci th …
In the past two decades, mutations in multiple genes have been linked to autosomal dominant or recessive forms of monogenic …
Parkinson's disease: a genetic perspective.
Belin AC, Westerlund M. Belin AC, et al. FEBS J. 2008 Apr;275(7):1377-1383. doi: 10.1111/j.1742-4658.2008.06301.x. Epub 2008 Feb 12. FEBS J. 2008. PMID: 18279377 Free article. Review.
Parkinson's disease (PD) is a common neurodegenerative disorder in the aging population, affecting more than 1% over the age of 65 years. ...To date, 13 genetic loci, PARK1-13, have been suggested for rare forms of PD such as autosomal dominant and …
Parkinson's disease (PD) is a common neurodegenerative disorder in the aging population, affecting more than 1% over the age o …
Molecular genetics of dopa-responsive dystonia.
Ichinose H, Suzuki T, Inagaki H, Ohye T, Nagatsu T. Ichinose H, et al. Biol Chem. 1999 Dec;380(12):1355-64. doi: 10.1515/BC.1999.175. Biol Chem. 1999. PMID: 10661862 Review.
The causative genes of two types of hereditary dopa-responsive dystonia (DRD) due to dopamine (DA) deficiency in the nigrostriatum DA neurons have been elucidated. Autosomal dominant DRD (AD-DRD) was originally described by Segawa as hereditary progressive dystonia …
The causative genes of two types of hereditary dopa-responsive dystonia (DRD) due to dopamine (DA) deficiency in the nigrostriatum DA neuron …
A53T in a parkinsonian family: a clinical update of the SNCA phenotypes.
Tambasco N, Nigro P, Romoli M, Prontera P, Simoni S, Calabresi P. Tambasco N, et al. J Neural Transm (Vienna). 2016 Nov;123(11):1301-1307. doi: 10.1007/s00702-016-1578-6. Epub 2016 Jun 1. J Neural Transm (Vienna). 2016. PMID: 27250986 Review.
Approximately 15 % of PD patients with Parkinson Disease (PD) have the familial type and 5-10 % of these are known to have monogenic forms with either an autosomal dominant or a recessive inheritance pattern. ...
Approximately 15 % of PD patients with Parkinson Disease (PD) have the familial type and 5-10 % of these are known to h …