Giménez C, Zafra F, López-Corcuera B, Aragón C
Centro de Biología Molecular Severo Ochoa, Universidad Autónoma de Madrid, Madrid, España.
Rev Neurol. 2008;47(12):648-52.
Hereditary hyperekplexia is a rare clinical syndrome typically characterized by sudden and generalized startle in response to trivial but unexpected tactile or acoustic stimulations. Typically it is accompanied by a temporally but complete muscular rigidly, and usually it manifests shortly after birth. Some affected infants die suddenly from lapses in cardiorespiratory function. Mental development usually is normal.
To summarize and update the molecular bases underlying the hereditary hyperekplexia syndrome.
Approximately 30% of the individuals suffering hereditary hyperekplexia show mutations on a gene located on chromosome 5q32 with a dominant or recessive trait. This gene encodes the alpha subunit of the strychnine-sensitive glycine receptor, which plays a crucial role in inhibitory glycinergic neurotransmission that process sensory and motor information. About 70% of the patients with hyperekplexia do not show genetic defects in the glycine receptor gene; this suggested that additional genes might be affected in this disease. Recent studies have reveals that mutations in the neuronal glycine transporter GLYT2 are a second major cause of hyperekplexia.
Hereditary hyperekplexia is a complex genetic disease in which several genes can be implicated, all of them directly or indirectly involved in inhibitory glycinergic neurotransmission. Two major proteins involved in hyperekplexia are the strychnine-sensitive glycine receptor (GlyR) and the neuronal glycine transporter GLYT2. Implication of secondary additional accompanying or interacting proteins in glycinergic terminals are not ruled out.
遗传性易惊症是一种罕见的临床综合征，其典型特征是对轻微但意外的触觉或听觉刺激产生突然的全身性惊吓反应。通常伴有短暂但完全的肌肉僵硬，通常在出生后不久就会出现。一些受影响的婴儿会因心肺功能衰竭而突然死亡。智力发育通常正常。
总结和更新遗传性易惊症综合征的分子基础。
约30%的遗传性易惊症患者在位于5号染色体q32上的一个基因上表现出具有显性或隐性特征的突变。该基因编码士的宁敏感型甘氨酸受体的α亚基，其在处理感觉和运动信息的抑制性甘氨酸能神经传递中起关键作用。约70%的易惊症患者在甘氨酸受体基因中未表现出遗传缺陷；这表明该疾病可能涉及其他基因。最近的研究表明，神经元甘氨酸转运体GLYT2的突变是易惊症的第二个主要病因。
遗传性易惊症是一种复杂的遗传疾病，可能涉及多个基因，所有这些基因都直接或间接参与抑制性甘氨酸能神经传递。与易惊症相关的两种主要蛋白质是士的宁敏感型甘氨酸受体（GlyR）和神经元甘氨酸转运体GLYT2。不排除甘氨酸能终末中次要的额外伴随或相互作用蛋白质的影响。
