MDS Abstracts

Abstracts from the International Congress of Parkinson’s and Movement Disorders.

MENU 
  • Home
  • Meetings Archive
    • 2024 International Congress
    • 2023 International Congress
    • 2022 International Congress
    • MDS Virtual Congress 2021
    • MDS Virtual Congress 2020
    • 2019 International Congress
    • 2018 International Congress
    • 2017 International Congress
    • 2016 International Congress
  • Keyword Index
  • Resources
  • Advanced Search

Association analysis of single nucleotide polymorphisms near the DYT3 locus to dystonic symptoms in X-linked dystonia-parkinsonism

G. Saranza, D. Sumalapao, A. Domingo, P. Pasco, R.D. Jamora, L. Lee, A. Westenberger, C. Klein (Manila, Philippines)

Meeting: 2017 International Congress

Abstract Number: 437

Keywords: Dystonia: Genetics

Session Information

Date: Tuesday, June 6, 2017

Session Title: Genetics (Non-PD)

Session Time: 1:45pm-3:15pm

Location: Exhibit Hall C

Objective: We aimed to elucidatewhether single nucleotide polymorphisms within the XDP locus affect the phenotypic expression of XDP.

 

Background: X-linked Dystonia-Parkinsonism (XDP, DYT3, Lubag Disease, OMIM # 314250) exhibits variability with respect to age at onset and with symptoms that range from very mild signs to severe forms of the disease. The considerable phenotypic variability seen in XDP suggests the presence of disease modifiers, such as genetic factors influencing disease expression.

Methods: 280 genetically confirmed XDP patients were included in the study. Logistic regression analysis was done to evaluate the association between phenotypes and four SNPs of interest: ChrX:71102421C>G, rs41484056, rs41438158 and ChrX:71653235C>T. Student’s t-tests were used to compare continuous quantitative outcome measures while Z-test was used to compare proportions of patients.

Results: The ChrX:71102421C>Gpolymorphism had a significant effect on the presence of neck/shoulder dystonia (p=0.0026) while rs41484056was associated with the presence of arm dystonia (p=0.0222).Logistic regression analysis showed that none of the SNPs influence age at onset of illness. Likewise, there was also no association seen between any of the SNPs and the initial symptom (whether dystonia or parkinsonism) and the region of initial dystonic manifestation.

Conclusions: Significant association was seen betweenChrX:71102421C>G and rs41484056 and the dystonic symptoms neck/shoulder dystonia and arm dystonia, respectively. This findingmayindicate that genetic factors influence disease expression in XDPand hence, the phenotypic variability.   

To cite this abstract in AMA style:

G. Saranza, D. Sumalapao, A. Domingo, P. Pasco, R.D. Jamora, L. Lee, A. Westenberger, C. Klein. Association analysis of single nucleotide polymorphisms near the DYT3 locus to dystonic symptoms in X-linked dystonia-parkinsonism [abstract]. Mov Disord. 2017; 32 (suppl 2). https://www.mdsabstracts.org/abstract/association-analysis-of-single-nucleotide-polymorphisms-near-the-dyt3-locus-to-dystonic-symptoms-in-x-linked-dystonia-parkinsonism/. Accessed May 13, 2025.
  • Tweet
  • Email
  • Print

« Back to 2017 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/association-analysis-of-single-nucleotide-polymorphisms-near-the-dyt3-locus-to-dystonic-symptoms-in-x-linked-dystonia-parkinsonism/

Most Viewed Abstracts

  • This Week
  • This Month
  • All Time
  • Covid vaccine induced parkinsonism and cognitive dysfunction
  • What is the appropriate sleep position for Parkinson's disease patients with orthostatic hypotension in the morning?
  • An Apparent Cluster of Parkinson's Disease (PD) in a Golf Community
  • The hardest symptoms that bother patients with Parkinson's disease
  • Life expectancy with and without Parkinson’s disease in the general population
  • Patients with Essential Tremor Live Longer than their Relatives
  • #23624 (not found)
  • The hardest symptoms that bother patients with Parkinson's disease
  • Three cases of early tremor in the course of Guillain-Barré Syndrome
  • The impact of gastric acid suppressants and antacids on levodopa plasma concentration in patients with Parkinson’s disease
  • To be or not to bupropion: a drug-induced parkinsonism?
  • The Role of MRI and DaTscan in Vascular Parkinsonism: A Case Report
  • Help & Support
  • About Us
  • Cookies & Privacy
  • Wiley Job Network
  • Terms & Conditions
  • Advertisers & Agents
Copyright © 2025 International Parkinson and Movement Disorder Society. All Rights Reserved.
Wiley