Hyperekplexia is a neurological disorder characterized by an exaggerated startle response
with generalized stiffening and frequent falls. Generalized stiffness is present at
birth. The disorder is hereditary and mutations in at least five genes have been described
to date. Most often, mutations are found in the GLRA1 gene, encoding the alpha 1 subunit of the glycine receptor, and less frequently in
the glycine transporter type 2 gene (GLYT2) (20% of cases), or the glycine receptor beta (GLRB) gene. The involved genes encode
subunits of glycine receptors, which are ligand-gated chloride channels with an inhibitory
function in brainstem and spinal cord [
[1]
]. The glycine receptors are highly expressed in certain brainstem nuclei and diffusely
in the grey matter of the spinal cord, also involving sensory pathways [
2
,
3
].Keywords
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Article info
Publication history
Published online: May 11, 2017
Accepted:
May 10,
2017
Received in revised form:
May 9,
2017
Received:
February 28,
2017
Identification
Copyright
© 2017 Elsevier B.V. All rights reserved.
