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Identification of VPS35 p.D620N mutation-related Parkinson’s disease in a Taiwanese family with successful bilateral subthalamic nucleus deep brain stimulation: a case report and literature review

Overview of attention for article published in BMC Neurology, October 2017
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Title
Identification of VPS35 p.D620N mutation-related Parkinson’s disease in a Taiwanese family with successful bilateral subthalamic nucleus deep brain stimulation: a case report and literature review
Published in
BMC Neurology, October 2017
DOI 10.1186/s12883-017-0972-5
Pubmed ID
Authors

Ying-Fa Chen, Yung-Yee Chang, Min-Yu Lan, Pei-Lung Chen, Chin-Hsien Lin

Abstract

Vacuolar protein sorting 35 (VPS35) was recently reported to be a genetic cause for late-onset autosomal dominant Parkinson's disease (PD). However, VPS35 mutations are rarely reported in Asian populations. Herein, we report the first Taiwanese family with the pathogenic VPS35 p.D620N mutation, including one patient treated successfully with subthalamic nucleus deep brain stimulation (STN-DBS). A 61-year-old woman presented with progressive left hand resting tremor at the age of 42. Neurological examinations revealed mask face and akinetic-rigidity over left extremities. She showed a good response to levodopa treatment, and her unified Parkinson's disease rating scale (UPDRS) motor scores improved from 42 to 15 under the levodopa equivalent dose of 1435 mg/day. She developed peak-dose dyskinesia and motor fluctuation seven years after the onset of symptoms, and received bilateral STN-DBS at the age of 55. Stimulation led to a marked improvement in her motor symptoms with a 37% improvement in the UPDRS motor score during the OFF period five years after surgery. The patient's mother and three siblings were also diagnosed with PD in their forties, following an autosomal-dominant inheritance pattern. We performed genetic analysis of the proband using a targeted next generation sequencing (NGS) panel covering 17 known PD-causative genes. We identified a pathogenic missense mutation in VPS35 gene, c.1858G > A (p.D620N), in this patient. This is the first report of the VPS35 p.D620N mutation in a Taiwanese family. Additionally, our report contributes to the current understanding of genetically defined PD patients treated successfully with STN-DBS.

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Mendeley readers

The data shown below were compiled from readership statistics for 39 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 39 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 11 28%
Student > Bachelor 6 15%
Researcher 5 13%
Other 3 8%
Librarian 2 5%
Other 5 13%
Unknown 7 18%
Readers by discipline Count As %
Neuroscience 9 23%
Biochemistry, Genetics and Molecular Biology 6 15%
Medicine and Dentistry 5 13%
Agricultural and Biological Sciences 3 8%
Computer Science 1 3%
Other 6 15%
Unknown 9 23%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 08 October 2017.
All research outputs
#10,534,348
of 11,888,244 outputs
Outputs from BMC Neurology
#1,233
of 1,360 outputs
Outputs of similar age
#230,997
of 274,215 outputs
Outputs of similar age from BMC Neurology
#8
of 9 outputs
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