<scp>ATXN</scp>8 −62 <scp>G/A</scp> promoter polymorphism and risk of <scp>T</scp>aiwanese <scp>P</scp>arkinson's disease

Chen, I.-C.; Wu, Yih‐Ru; Yang, Sang-In; Kao, Shih-Huan; Chen, Y.-C.; Chang, Kuo‐Hsuan; Lee, Chi-Ming AngelLee; Lee-Chen, Guey Jen; Chen, Chien-Ming

doi:10.1111/j.1468-1331.2012.03749.x

Cited by 4 publications

(4 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Neuronal loss was observed in the cerebral cortex, basal ganglia, thalamus, midbrain, pons, medulla oblongata, cerebellum, and even spinal cord [ 55 , 69 , 70 ]. Chen et al [ 71 ] reported that the degeneration of the subthalamopallidal system was the main neuropathologic features of SCA3. The MSA-C phenotype, which was confirmed by numerous alpha-synuclein-containing glial cytoplasmic inclusions in autopsies, was also reported with 72 repeats for the SCA3 mutation [ 72 ].…”

Section: Sca3mentioning

confidence: 99%

“…The range of the SCA8 repeat size was analyzed in a Taiwanese PD cohort, and large SCA8 alleles (66–120 repeats) and a novel ATXN8 −62 G/A promoter SNP were found [ 78 ]. The same group also performed a structural analysis in a cohort of 569 PD cases and 547 ethnically matched controls, and they found that individuals carrying the AA genotype exhibited a decreased risk of developing PD than those with the GG + GA phenotypes [ 71 ]. A Japanese group analyzed the SCA8 CTA/CTG repeat for 2806 people including 448 PD patients, and 0.4% had expanded alleles (85–399) while there were no individuals with expansion among the 654 normal controls [ 79 ].…”

Section: Sca8mentioning

confidence: 99%

See 1 more Smart Citation

Parkinsonism in Spinocerebellar Ataxia

Park

Kim

Jeon

2015

BioMed Research International

View full text Add to dashboard Cite

Spinocerebellar ataxia (SCA) presents heterogeneous clinical phenotypes, and parkinsonism is reported in diverse SCA subtypes. Both levodopa responsive Parkinson disease (PD) like phenotype and atypical parkinsonism have been described especially in SCA2, SCA3, and SCA17 with geographic differences in prevalence. SCA2 is the most frequently reported subtype of SCA related to parkinsonism worldwide. Parkinsonism in SCA2 has unique genetic characteristics, such as low number of expansions and interrupted structures, which may explain the sporadic cases with low penetrance. Parkinsonism in SCA17 is more remarkable in Asian populations especially in Korea. In addition, an unclear cutoff of the pathologic range is the key issue in SCA17 related parkinsonism. SCA3 is more common in western cohorts. SCA6 and SCA8 have also been reported with a PD-like phenotype. Herein, we reviewed the epidemiologic, clinical, genetic, and pathologic features of parkinsonism in SCAs.

show abstract

Section: Sca3mentioning

confidence: 99%

Section: Sca8mentioning

confidence: 99%

Parkinsonism in Spinocerebellar Ataxia

Park

Kim

Jeon

2015

BioMed Research International

View full text Add to dashboard Cite

show abstract

“…Specifically, motif A, which involves the TF CEBPB , the miRNA hsa-mir-130 and various target genes, is an example of how co-regulatory network motifs may help to better understand the pathogenicity of PD. Intriguingly, the CEBPB gene is involved in PD-related regulatory interactions via binding to the proximal promoter of the ATXN gene (which is the spinocerebellar Ataxia protein associated with the phenotypic variability of neurodegenerative diseases 53 ) and thereby up-regulating its expression in neuroblastoma cells 54 . The ATXN transcript did not show dysregulation.…”

Section: Resultsmentioning

confidence: 99%

A workflow for the integrative transcriptomic description of molecular pathology and the suggestion of normalizing compounds, exemplified by Parkinson’s disease

Hamed

Gladbach

Möller

et al. 2018

Sci Rep

View full text Add to dashboard Cite

The volume of molecular observations on human diseases in public databases is continuously increasing at accelerating rates. A bottleneck is their computational integration into a coherent description, from which researchers may derive new well-founded hypotheses. Also, the need to integrate data from different technologies (genetics, coding and regulatory RNA, proteomics) emerged in order to identify biomarkers for early diagnosis and prognosis of complex diseases and therefore facilitating the development of novel treatment approaches. We propose here a workflow for the integrative transcriptomic description of the molecular pathology in Parkinsons’s Disease (PD), including suggestions of compounds normalizing disease-induced transcriptional changes as a paradigmatic example. We integrated gene expression profiles, miRNA signatures, and publicly available regulatory databases to specify a partial model of the molecular pathophysiology of PD. Six genetic driver elements (2 genes and 4 miRNAs) and several functional network modules that are associated with PD were identified. Functional modules were assessed for their statistical significance, cellular functional homogeneity, literature evidence, and normalizing small molecules. In summary, our workflow for the joint regulatory analysis of coding and non-coding RNA, has the potential to yield clinically as well as biologically relevant information, as demonstrated here on PD data.

show abstract

“…As experience with these agents improves, their use in different patient groups becomes more refined and their potential long‐term side effects better understood. Parkinson's disease has likewise benefitted from significant advances in understanding pathogenesis, but has yet to develop any treatments that can slow the progression of neurodegeneration . Developments in symptomatic therapies continue, including modifications in the delivery of current drugs to improve either adherence or motor control.…”

mentioning

confidence: 99%