Association of single nucleotide variants in the DRD3 and LINGO1 genes with the development of drug dyskinesias in Parkinson's disease: results of a pilot study

2021 ◽  
pp. 9-12
Author(s):  
A.A. Tappakhov ◽  
T.E. Popova ◽  
T.G. Govorova ◽  
N.A. Schneider ◽  
E.E. Vaiman ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Pilot Study ◽  
Single Nucleotide Variants ◽  
Single Nucleotide

scholarly journals Analysis of heterozygous PRKN variants and copy number variations in Parkinson’s disease

2020 ◽  
Author(s):  
Eric Yu ◽  
Uladzislau Rudakov ◽  
Lynne Krohn ◽  
Kheireddin Mufti ◽  
Jennifer A. Ruskey ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Movement Disorder ◽  
Copy Number ◽  
Copy Number Variations ◽  
Mendelian Disease ◽  
Single Nucleotide Variants ◽  
Single Nucleotide ◽  
Association Tests ◽  
Molecular Inversion Probes

AbstractImportanceBiallelic PRKN mutation carriers with Parkinson’s disease (PD) typically have an earlier disease onset, slow disease progression and, often, different neuropathology compared to sporadic patients. However, the role of heterozygous PRKN variants in the risk of PD remains unclear.ObjectiveTo examine the association between heterozygous PRKN variants, including single nucleotide variants and copy number variations (CNVs), and PD status.DesignThis case-control study was conducted in Canada using data from 4 centers in Canada, France, the United States and Israel, collected between 2013 and 2020.SettingMulticenter, population matched, unrelated participants.ParticipantsPD patients were compared with healthy controls. Participants were excluded if genetic data quality was poor, PRKN variants were biallelic, or relatedness was discovered. In total, 2,807 patients and 3,627 controls were recruited for the study. Data analyses were performed from January 2019 to March 2020.ExposureInheritance of heterozygous PRKN variants.Main Outcome(s) and Measure(s)PD was diagnosed by movement disorder specialists according to the UK Brain Bank Criteria or the Movement Disorder Society criteria. Targeted next-generation sequencing with molecular inversion probes and multiplex ligation-dependent probe amplification were used to detect rare variants and CNVs. These variants were examined with optimized sequence kernel association tests after accounting for potential pathogenicity. P values of optimized sequence kernel association tests between heterozygous PRKN variants and PD were measured.ResultsDNA of all participants were sequenced, including 1,903 late onset (mean [SD], 64.02±7.81 years, 1,196 men [63%]) and 542 early onset patients (mean [SD], 43.30±6.60, 368 men [68%]). Age at onset was not available for 349 patients. Carriers of two PRKN variants were excluded from the analysis. No associations were found between heterozygous variants and risk of PD. Pathogenic and likely pathogenic heterozygous variants and CNVs were less common among PD patients (1.0%) than among controls (1.3%).Conclusion and RelevanceThis study suggests that heterozygous variants and CNVs in PRKN are not associated with PD. Molecular inversion probes allow for rapid and cost-effective detection of all types of PRKN variants, which may be useful for pre-trial screening and for clinical and basic science studies specifically targeting PRKN patients.Key PointsQuestionAre rare heterozygous PRKN single nucleotide variants and copy number variations associated with Parkinson’s disease?FindingsIn this case-controls study including 2,807 patients and 3,627 controls, we found no significant association between rare heterozygous PRKN variants and risk of Parkinson’s disease.MeaningPRKN-associated parkinsonism is an autosomal recessive Mendelian disease, and based on our data, heterozygous carriers are not likely to be at increased risk of Parkinson’s disease.

scholarly journals Exploratory pilot study of exogenous sustained‐release Melatonin on nocturia in Parkinson’s Disease

2021 ◽  
Author(s):  
Amit Batla ◽  
Sara Simeoni ◽  
Tomoyuki Uchiyama ◽  
Lorenzo deMin ◽  
Joanne Baldwin ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Pilot Study ◽  
Sustained Release

scholarly journals Interactions of COMT and ALDH2 Genetic Polymorphisms on Symptoms of Parkinson’s Disease

2021 ◽  
Vol 11 (3) ◽  
pp. 361
Author(s):  
Rwei-Ling Yu ◽  
Shao-Ching Tu ◽  
Ruey-Meei Wu ◽  
Pei-An Lu ◽  
Chun-Hsiang Tan
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Detrimental Effect ◽  
Personal Hygiene ◽  
Nucleotide Polymorphisms ◽  
Monoamine Neurotransmitters ◽  
Single Nucleotide ◽  
Detrimental Impact ◽  
Reduced Activity ◽  
Insight Into

(1) Background: Monoamine neurotransmitters play essential roles in the normal functioning of our nervous system. However, the metabolism of monoamine neurotransmitters is accompanied by the production of neurotoxic metabolites, and inefficient removal of the metabolites has been suggested to cause neurodegeneration. (2) Methods: To examine the effect of reduced activity of catechol-O-methyltransferase (COMT) and aldehyde dehydrogenase 2 (ALDH2) conferred by single nucleotide polymorphisms COMT rs4680(A) and ALDH2 rs671(A) on the symptoms of patients with Parkinson’s disease (PD), a total of 114 PD patients were recruited cross-sectionally and received genotyping for rs4680 and rs671 along with MDS-UPDRS evaluation. (3) Results: We found that patients carrying rs4680(A) had more severe bradykinesia in the upper extremity and rest tremor. Besides, patients carrying rs671(A) had more difficulty maintaining personal hygiene, while patients with genotype rs671(GG) had higher scores in the item “depressed mood.” More importantly, we found the effect of rs4680 to be moderated by rs671 SNP for the symptom of “hand movements.” The detrimental impact of rs4680(A) is more pronounced in the presence of genotype rs671(GG). (4) Conclusions: This study facilitates a deeper understanding of the detrimental effect of reduced activity of COMT and ALDH2 conferred by genetic variation and provides novel insight into the interactions between enzymes metabolizing monoamine neurotransmitters in the pathogenesis of PD.

Distinguishing Between Parkinson’s Disease and Essential Tremor Through Video Analytics Using Machine Learning: a Pilot Study

2020 ◽  
pp. 1-1
Author(s):  
Ekaterina Kovalenko ◽  
Aleksandr Talitckii ◽  
Anna Anikina ◽  
Aleksei Shcherbak ◽  
Olga Zimniakova ◽  
...  
Keyword(s):  
Machine Learning ◽  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Pilot Study ◽  
Essential Tremor ◽  
Video Analytics

P143 An objective 3D-transcranial sonography method for detecting Parkinson’s disease – A pilot study

Basal Ganglia ◽  
2011 ◽  
Vol 1 (1) ◽  
pp. 33
Author(s):  
A. Plate ◽  
A. Ahmadi ◽  
T. Klein ◽  
O. Paulyp ◽  
N. Navab ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Pilot Study ◽  
Transcranial Sonography

Rapid assessment of postural instability in Parkinson’s disease (RAPID): a pilot study

2011 ◽  
Vol 18 (2) ◽  
pp. 260-265 ◽  
Author(s):  
R. K. Y. Chong ◽  
J. Morgan ◽  
S. H. Mehta ◽  
I. Pawlikowska ◽  
P. Hall ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Pilot Study ◽  
Rapid Assessment ◽  
Postural Instability

scholarly journals Serum Metabolomics of Slow vs. Rapid Motor Progression Parkinson’s Disease: a Pilot Study

PLoS ONE ◽  
2013 ◽  
Vol 8 (10) ◽  
pp. e77629 ◽  
Author(s):  
James R. Roede ◽  
Karan Uppal ◽  
Youngja Park ◽  
Kichun Lee ◽  
Vilinh Tran ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Pilot Study ◽  
Serum Metabolomics

Carnisone Increases Efficiency of DOPA Therapy of Parkinson's Disease: A Pilot Study

2008 ◽  
Vol 11 (4) ◽  
pp. 821-827 ◽  
Author(s):  
Alexander Boldyrev ◽  
Tatiana Fedorova ◽  
Maria Stepanova ◽  
Irina Dobrotvorskaya ◽  
Eugenia Kozlova ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Pilot Study

The metric properties of a novel non-motor symptoms scale for Parkinson's disease: Results from an international pilot study

2007 ◽  
Vol 22 (13) ◽  
pp. 1901-1911 ◽  
Author(s):  
Kallol Ray Chaudhuri ◽  
Pablo Martinez-Martin ◽  
Richard G. Brown ◽  
Kapil Sethi ◽  
Fabrizio Stocchi ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Pilot Study ◽  
Motor Symptoms ◽  
Metric Properties ◽  
Non Motor Symptoms
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