Genetic variants and animal models in SNCA and Parkinson disease.
Genetic variants and animal models in SNCA and Parkinson disease. Ageing Res Rev. 2014 Apr 21; Authors: Deng H, Yuan L Abstract Parkinson disease (PD; MIM 168600) is the second most common progressive neurodegenerative disorder characterized by a variety of motor and non-motor features. To date, at least 20 loci and 15 disease-causing genes for parkinsonism have been identified. Among them, the α-synuclein (SNCA) gene was associated with PARK1/PARK4. Point mutations, duplications and triplications in the SNCA gene cause a rare dominant form of PD in familial and sporadic PD cases. The α-synuclein protein, a member of the synuclein family, is abundantly expressed in the brain. The protein is the major component of Lewy bodies and Lewy neurites in dopaminergic neurons in PD. Further understanding of its role in the pathogenesis of PD through various genetic techniques and animal models will likely provide new insights into our understanding, therapy and prevention of PD. PMID: 24768741 [PubMed - as supplied by publisher]
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Condition: Parkinson Disease Intervention: Diagnostic Test: MRI Sponsor: University of Plymouth Not yet recruiting
Conditions: Parkinson Disease; Parkinsonian Disorders; Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Movement Disorders; Neurodegenerative Diseases Intervention: Device: Verily Study Watch Sponsors: Radboud University; UCB Pharma; Verily Life Sciences LLC Recruiting
CONCLUSIONS: Among patients with PD, the number of daily medications is associated with increased risk of hospitalization; an increasing number of drugs is associated with increasing number of hospitalizations.PMID:34337730 | DOI:10.26355/eurrev_202107_26394
ScientificWorldJournal. 2021 Jul 14;2021:6076828. doi: 10.1155/2021/6076828. eCollection 2021.ABSTRACTThis paper investigated the performance of a number of acoustic measures, both individually and in combination, in predicting the perceived quality of sustained vowels produced by people impaired with Parkinson's disease (PD). Sustained vowel recordings were collected from 51 PD patients before and after the administration of the Levodopa medication. Subjective ratings of the overall vowel quality were garnered using a visual analog scale. These ratings served to benchmark the effectiveness of the acoustic measures. Acoust...
CONCLUSIONS: The results indicate that a larger RCT is warranted, and the findings also have broader relevance for the feasibility and development of AO + MI interventions for PD and other conditions.PMID:34336183 | PMC:PMC8324342 | DOI:10.1155/2021/4559519
Contributors : Samantha L Schaffner ; Zinah Wassouf ; Diana F Lazaro ; Mary Xylaki ; Nicole Gladish ; David T Lin ; Julia MacIsaac ; Katia Ramadori ; Julia M Schulze-Hentrich ; Tiago F Outeiro ; Michael S KoborSeries Type : Methylation profiling by genome tiling arrayOrganism : Homo sapiensAlthough Parkinson ’s disease (PD) is one of the most rapidly growing neurological disorders, interindividual differences in PD etiology related to genetics are not fully understood. Here, we demonstrate genome-wide DNA methylation and hydroxymethylation alterations associated with overexpression of two PD-linked al pha-synuclein v...
CONCLUSION: PARIS displays adverse effects on modulation of PPARγ associated gene clusters. Our work revealed a pivotal role of PPARγ in PARIS-driven neurodegeneration.
CONCLUSION: PPARγ plays a crucial regulatory role in PARIS phenotype. Drosophila models of PARIS-induced neurodegeneration used in this work to represent PD phenotype and our TRAP-seq protocol serve as a paradigm for future studies to unravel mechanistic underpinnings of PARIS biology.
The need for imaging-guided optimization of Deep Brain Stimulation (DBS) parameters is increasing with recent developments of sophisticated lead designs offering highly individualized, but time-consuming and complex programming.