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Research papers


Mechanisms research papers

  • Movement Disorders Vol 30 Iss 10 Appendectomy may delay Parkinson's disease OnsetThirty-four patients (11.5%) had appendectomy before PD onset. There was no significant effect of appendectomy on age at PD onset for the entire cohort (P = 0.153). However, among patients with late onset (55 years), we found evidence that those with past appendectomy had more years of life without PD symptoms than patients without appendectomy (P = 0.040). No association was found for the young-onset group (P = 0.663). 15 September 2015
  • Journal of Parkinson's Disease Color Discrimination in Patients with Gaucher Disease and Parkinson DiseaseThere was a significant difference because of PD in groups with GD and GBA carriers. GD+PD means were between GD only and PD only mean scores. Conclusions: These findings confirm that PD impacts color discrimination, more in males with GD+PD but nonetheless, GD+PD patients (but not GBA carriers) had better scores than PD only patients. 14 September 2015
  • Journal of Parkinson's Disease Alcohol Consumption and Parkinson's Disease Risk: A Review of Recent FindingsConclusion: The weak association between alcohol drinking and PD risk was found in studies at greater risk of selection and recall bias. 14 September 2015
  • eLife Network structure of brain atrophy in de novo Parkinson's DiseaseThese results support a network-spread mechanism in PD. Finally, the atrophy pattern in PD was also seen in healthy aging, where it also correlated with the loss of striatal dopaminergic innervation. 07 September 2015
  • Parkinsonism & Related Disorders Volume 21 Issue 9 The contribution of Niemann-Pick SMPD1 mutations to Parkinson disease in Ashkenazi JewsNine (3.1%) PD patients compared to two (0.5%) individuals from the control group were found to carry one of the three Ashkenazi SMPD1 founder mutations (p=0.007). The overall clinical characteristics of PD patients carrying SMPD1 mutations were similar to those of PD patients with no mutations in SMPD1, GBA and LRRK2 (n=189). 01 September 2015
  • Brain Volume 138 Glucocerebrosidase activity in Parkinson's disease with and without GBA mutationsAuthors conclude that lower glucocerebrosidase enzymatic activity is strongly associated with GBA mutations, and modestly with idiopathic Parkinson's disease. The association of lower glucocerebrosidase activity in both GBA mutation carriers and Parkinson's patients without GBA mutations suggests that loss of glucocerebrosidase function contributes to the pathogenesis of Parkinson's disease. 01 September 2015
  • Brain Volume 138 Association between α-synuclein blood transcripts and early, neuroimaging-supported Parkinson's diseaseThis study reveals a consistent association of reduced SNCA transcripts in accessible peripheral blood and early-stage Parkinson's disease in 863 participants and suggests a clinical role as potential predictor of cognitive decline. 01 September 2015
  • Journal of Neurodevelopmental Disorders High rates of parkinsonism in adults with autismIf high rates of parkinsonism and potentially Parkinson's disease are confirmed in subsequent studies of ASD, this observation has important implications for understanding the neurobiology of autism and treatment of manifestations in older adults. Given the prevalence of autism in school-age children, the recognition of its life-long natural history, and the recognition of the aging of western societies, these findings also support the importance of further systematic study of other aspects of older adults 30 August 2015
  • Parkinsonism & Related Disorders Volume 21 Issue 10 The emerging role of SMPD1 mutations in Parkinson's disease; implications for future studiesAuthors conclude that similar to the GBA gene where different mutations have differential effects, SMPD1 mutations also have a differential effects on the risk for PD. Future studies should therefore examine the association by mutation and not by accumulative risk of all mutations. 19 August 2015
  • Parkinson's Disease Effect of GBA Mutations on Phenotype of Parkinson's Disease: A Study on Chinese Population and a Meta-AnalysisStudy results suggested that the phenotypes of PD patients with GBA mutations are different from GBA noncarriers. 03 August 2015
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