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Research papers


Mechanisms research papers

  • JAMA Neurology Volume 70 Issue 7 Association of GBA Mutations and the E326K Polymorphism With Motor and Cognitive Progression in Parkinson DiseaseConclusions and Relevance GBA variants predict a more rapid progression of cognitive dysfunction and motor symptoms in patients with PD, with a greater effect on PIGD than tremor. Thus, GBA variants influence the heterogeneity in symptom progression observed in PD. 01 October 2016
  • Annals of Clinical and Translational Neurology Alpha-synuclein RT-QuIC in the CSF of patients with alpha-synucleinopathiesAuthors have developed a novel real-time quaking-induced conversion RT-QuIC-based assay to detect alpha-synuclein aggregation in brain and cerebrospinal fluid from dementia with Lewy bodies and Parkinson's disease patients. This assay can detect alpha-synuclein aggregation in Dementia with Lewy bodies and Parkinson's disease cerebrospinal fluid with sensitivities of 92% and 95%, respectively, and with an overall specificity of 100% when compared to Alzheimer and control cerebrospinal fluid. 01 October 2016
  • Journal of Experimental Medicine Volume 209 Issue 5 Widespread transneuronal propagation of α-synucleinopathy triggered in olfactory bulb mimics prodromal Parkinson's diseaseAuthors demonstrate that injected α-syn fibrils recruit endogenous α-syn into pathological aggregates that spread transneuronally over several months, initially in the olfactory network and later in distant brain regions. The seeded inclusions contain posttranslationally modified α-syn that is Thioflavin S positive, indicative of amyloid fibrils. 01 September 2016
  • Biochemistry Volume 55 Issue 7 Regulation of DJ-1 by glutaredoxin 1 in vivo implications for Parkinson's diseaseHere, with Grx-/- mice authors provide evidence that Grx1 regulates protein levels of DJ-1 in vivo. Furthermore, with model neuronal cells (SH-SY5Y) they observed decreased DJ-1 protein content in response to treatment with known glutathionylating agents; and with isolated DJ-1 we identified two distinct sites of glutathionylation. Finally, authors found that overexpression of DJ-1 in the dopaminergic neurons partly compensates for the loss of the Grx1 homolog in a C. elegans in vivo model of PD. 16 August 2016
  • Movement Disorders Volume 31 Issue 8 Motor and nonmotor heterogeneity of LRRK2-related and idiopathic Parkinson's diseaseConclusions: G2385R and G2019S PD appear to have motor differences that may be explained by contrasting local treatment or measurement practices or differences in the biology of the disease. Longitudinal studies should evaluate whether progression is faster in G2385R mutation carriers compared with G2019S PD or idiopathic PD. 15 August 2016
  • Neuroscience & Behavioural Reviews Neuroactive gonadal drugs for neuroprotection in male and female models of Parkinson's diseaseUsing the 1-methyl 4-phenyl-1,2,3,6 tetrahydropyridine (MPTP) mouse model, authors showed that several compounds are neuroprotective on dopaminergic neurons including estrogen, the selective estrogen receptor modulator raloxifene, progesterone, dehydroepiandrosterone, the estrogen receptor alpha (ERα) agonist PPT as well as the G protein-coupled membrane estrogen receptor (GPER1) specific agonist G1. 01 August 2016
  • European Journal of Neurology Mitochondrial DNA variants as genetic risk factors for Parkinson diseaseConclusions: Studies, offering positive results from clinical investigations and cybrid experiments, provide data supporting the role of variant mtDNA in the risk of PD. 01 August 2016
  • Parkinsonism & Related Disorders Volume 29 Low frequency of GCH1 and TH mutations in Parkinson's diseaseThis study indicates that mutations in GCH1 are rare in late-onset PD. Several patients carried heterozygous variants in the TH gene that may affect protein function. Our study was not designed to determine with certainty if any of these variants play a role as risk factors for late-onset PD. 01 August 2016
  • Parkinsonism & Related Disorders Volume 29 Genetic risk of Parkinson's disease in the general populationConclusion: Genetic variants for PD are associated with the risk of incident PD in the general population and with impairment in daily functioning in individuals without clinical parkinsonism, but do not improve the clinical prediction of PD. However, we were probably underpowered to detect a small improvement in PD prediction. 01 August 2016
  • Brain Volume 139 Issue 4 Basal ganglia dysfunction in idiopathic REM sleep behaviour disorder parallels that in early Parkinson's diseaseRapid eye movement sleep behaviour disorder was indistinguishable from Parkinson's disease on resting state functional magnetic resonance imaging despite obvious differences on dopamine transported single photon emission computerized tomography. Basal ganglia connectivity is a promising biomarker for the detection of early basal ganglia network dysfunction, and may help to identify patients at risk of developing Parkinson's disease in the future. 01 August 2016
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