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KMID : 1197720170100010053
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대한파킨슨병 및 이상운동질환 학회지
2017 Volume.10 No. 1 p.53 ~ p.58
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Familiar Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes
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Lee Yoon-Ju
Kim Nan-Young
Hong Sang-Kyoon
Chung Su-Jin
Jeong Seong-Ho
Lee Phil-Hyu
Sohn Young-H.
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Abstract
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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.
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KEYWORD
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Hyperekplexia, GLRA1, deep phenotyping
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Listed journal information
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