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Familiar Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes

Authors
 Yoonju Lee  ;  Nan Young Kim  ;  Sangkyoon Hong  ;  Su Jin Chung  ;  Seong Ho Jeong  ;  Phil Hyu Lee  ;  Young H. Sohn 
Citation
 Journal of Movement Disorders, Vol.10(1) : 53-58, 2017 
Journal Title
 Journal of Movement Disorders 
ISSN
 2093-4939 
Issue Date
2017
Keywords
GLRA1 ; Hyperekplexia ; deep phenotyping
Abstract
Familial hyperekplexia, also called startle disease, is a rare neurological disorder characterized by excessive startle responses to noise or touch. It can be associated with serious injury from frequent falls, apnea spells, and aspiration pneumonia. Familial hyperekplexia has a heterogeneous genetic background with several identified causative genes; it demonstrates both dominant and recessive inheritance in the α1 subunit of the glycine receptor (GLRA1), the β subunit of the glycine receptor and the presynaptic sodium and chloride-dependent glycine transporter 2 genes. Clonazepam is an effective medical treatment for hyperekplexia. Here, we report genetically confirmed familial hyperekplexia patients presenting early adult cautious gait. Additionally, we review clinical features, mode of inheritance, ethnicity and the types and locations of mutations of previously reported hyperekplexia cases with a GLRA1 gene mutation.
URI
http://ir.ymlib.yonsei.ac.kr/handle/22282913/160956
DOI
10.14802/jmd.16044
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실)
Yonsei Authors
손영호(Sohn, Young Ho) ; 이윤주(Lee, Yoon Ju) ; 이필휴(Lee, Phil Hyu) ; 정수진(Chung, Su Jin)
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