title: Familial Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes
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 aGLRA1gene mutation.
authors.affiliation: Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Yoonju
authors.initials: Y
authors.lastname: Lee
authors.affiliation: Hallym Institute of Translational Genomics and Bioinformatics, Hallym University College of Medicine, Anyang, Korea.
authors.forename: Nan Young
authors.initials: NY
authors.lastname: Kim
authors.affiliation: Hallym Institute of Translational Genomics and Bioinformatics, Hallym University College of Medicine, Anyang, Korea.
authors.forename: Sangkyoon
authors.initials: S
authors.lastname: Hong
authors.affiliation: Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Su Jin
authors.initials: SJ
authors.lastname: Chung
authors.affiliation: Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Seong Ho
authors.initials: SH
authors.lastname: Jeong
authors.affiliation: Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Phil Hyu
authors.initials: PH
authors.lastname: Lee
authors.affiliation: Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Young H
authors.initials: YH
authors.lastname: Sohn
keywords: GLRA1; Hyperekplexia; deep phenotyping