Parkinson disease

Definition:

Parkinson disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Both environmental factors and mutations in familial PD-linked genes such as SNCA, Parkin, DJ-1, PINK1 and LRRK2 are associated with PD pathogenesis. These pathogenic mutations and environmental factors are known to cause disease due to oxidative stress, intracellular Ca2+ homeostasis impairment, mitochondrial dysfunctions and altered protein handling compromising key roles of DA neuronal function and survival. The demise of DA neurons located in the SNc leads to a drop in the dopaminergic input to the striatum, which is hypothesized to impede movement by inducing hypo and hyper activity in striatal spiny projection neurons (SPNs) of the direct (dSPNs) and indirect (iSPNs) pathways in the basal ganglia, respectively.

References:

[1]. Aaron D Gitler, et al. Alpha-synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity. Nat Genet. 2009 Mar;41(3):308-15. [Content Brief]

[2]. Christine Klein, et al. Deciphering the role of heterozygous mutations in genes associated with parkinsonism. Lancet Neurol. 2007 Jul;6(7):652-62. [Content Brief]

[3]. Dena G Hernandez, et al. Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance. J Neurochem. 2016 Oct;139 Suppl 1(Suppl 1):59-74. [Content Brief]

[4]. E R Martin, et al. Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease. JAMA. 2001 Nov 14;286(18):2245-50. [Content Brief]

[5]. John Hardy, et al. The genetics of Parkinson's syndromes: a critical review. Curr Opin Genet Dev. 2009 Jun;19(3):254-65. [Content Brief]

[6]. Manabu Funayama, et al. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol. 2015 Mar;14(3):274-82. [Content Brief]

[7]. Mark W Dodson, et al. Pink1, Parkin, DJ-1 and mitochondrial dysfunction in Parkinson's disease. Curr Opin Neurobiol. 2007 Jun;17(3):331-7. [Content Brief]

[8]. Patrick M Abou-Sleiman, et al. The role of pathogenic DJ-1 mutations in Parkinson's disease. Ann Neurol. 2003 Sep;54(3):283-6. [Content Brief]

[9]. Suzanne Lesage, et al. Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. Am J Hum Genet. 2016 Mar 3;98(3):500-513. [Content Brief]

[10]. Suzanne Lesage, et al. Parkinson's disease: from monogenic forms to genetic susceptibility factors. Hum Mol Genet. 2009 Apr 15;18(R1):R48-59. [Content Brief]

[11]. Wei-Dong Le, et al. Mutations in NR4A2 associated with familial Parkinson disease. Nat Genet. 2003 Jan;33(1):85-9. [Content Brief]

[12]. Yutaka Oji, et al. Variants in saposin D domain of prosaposin gene linked to Parkinson's disease. Brain. 2020 Apr 1;143(4):1190-1205. [Content Brief]

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