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Chromosomal Deletion in 7q31.2-31.32 Involving Ca2+-Dependent Activator Protein for Secretion Gene in a Patient with Cerebellar Ataxia: a Case Report

Authors
 Seungbeen Hong  ;  Su Ji Lee  ;  Sung-Rae Cho 
Citation
 Brain & Neurorehabilitation, Vol.13(1) : e9, 2020-03 
Journal Title
 Brain & Neurorehabilitation 
ISSN
 1976-8753 
Issue Date
2020-03
Keywords
Cerebellar Ataxia ; Chromosome Disorders ; Ca2+-Dependent Activator Protein for Secretion, Human
Abstract
We present a 33-year-old male patient with cerebellar ataxia. He was first considered to have a psychiatric conversion disorder but finally found to have chromosomal deletion in 7q31.2-31.32 involving Ca2+-dependent activator protein for secretion (CADPS) gene. When a targeted gene sequencing using next-generation sequencing panel and chromosomal microarray analysis were performed, an 8.6 Mb deletion within chromosome 7q31.2-31.32 was discovered. Deletion of CADPS gene in the 7q31.2-31.32 was suggested as the causative factor of cerebellar ataxia. Functional levels evaluated by Berg balance scale and modified Barthel index were improved via comprehensive rehabilitation including balance training and a dopamine agonist medication. To the best of our knowledge, this is the first report of chromosomal deletion in 7q31.2-31.32 including CADPS gene detected in patients with cerebellar ataxia.
Files in This Item:
T202004775.pdf Download
DOI
10.12786/bn.2020.13.e9
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Rehabilitation Medicine (재활의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Urology (비뇨의학교실) > 1. Journal Papers
Yonsei Authors
Cho, Sung-Rae(조성래) ORCID logo https://orcid.org/0000-0003-1429-2684
Hong, Seungbeen(홍승빈)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/180450
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