Journal of Movement Disorders

Case Report

Familial Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes: Yoonju Lee, Nan Young Kim, Sangkyoon Hong, Su Jin Chung, Seong Ho Jeong, Phil Hyu Lee, Young H. Sohn; J Mov Disord. 2017;10(1):53-58. Published online December 27, 2016; DOI: https://doi.org/10.14802/jmd.16044

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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.

Citations

Citations to this article as recorded by

Hereditary hyperekplexia: a new family and a systematic review of GLRA1 gene-related phenotypes
Elisabetta Ferraroli, Marco Perulli, Chiara Veredice, Ilaria Contaldo, Michela Quintiliani, Martina Ricci, Ilaria Venezia, Luigi Citrigno, Antonio Qualtieri, Patrizia Spadafora, Francesca Cavalcanti, Domenica Immacolata Battaglia
Pediatric Neurology.2022;[Epub] CrossRef
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Ilaria Lagorio, Lorenzo Brunelli, Pasquale Striano
Neurology Clinical Practice.2022; 12(4): 320. CrossRef
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Yan Zhang, Ling-Ling Wu, Xiao-Lan Zheng, Cai-Mei Lin
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Journal of the Neurological Sciences.2020; 416: 117051. CrossRef
Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report
Teresa Sprovieri, Carmine Ungaro, Serena Sivo, Michela Quintiliani, Ilaria Contaldo, Chiara Veredice, Luigi Citrigno, Maria Muglia, Francesca Cavalcanti, Sebastiano Cavallaro, Eugenio Mercuri, Domenica Battaglia
BMC Medical Genetics.2019;[Epub] CrossRef
Weird Laughing in Hyperekplexia: A new phenotype associated with a novel mutation in the GLRA1 gene?
Zhi Huang, Yajun Lian, Hongliang Xu, Haifeng Zhang
Seizure.2018; 58: 6. CrossRef
A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature
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BMC Medical Genetics.2017;[Epub] CrossRef

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