Tijssen M A, Voorkamp L M, Padberg G W, van Dijk J G
Department of Neurology and Clinical Neurophysiology, Leiden University Hospital, the Netherlands.
Arch Neurol. 1997 Apr;54(4):388-93. doi: 10.1001/archneur.1997.00550160034012.
Patients with hereditary hyperekplexia have excessive startle responses that are accompanied by transient stiffness and also continuous stiffness in infancy. A point of mutation has been identified for the major form of hereditary hyperekplexia in the gene encoding the alpha 1 subunit of the glycine receptor.
To measure startle reflexes and autonomic responses in the major form of hereditary hyperekplexia in the original Dutch pedigree.
Startle reflexes and autonomic responses were examined by administering 3 series of 20 auditory stimuli at intervals of 10 seconds (90 and 113 dB) and 60 seconds (113 dB).
The Department of Neurology and Clinical Neurophysiology at the Leiden University Hospital, Leiden, the Netherlands.
Nine patients with the major form of hyperekplexia and 20 healthy controls. Of the 9 patients, 5 took medication. The patients are part of the Dutch hyperekplexia pedigree.
Startle responses were quantified with latency periods and areas of electromyographic bursts of the orbicular muscle of the eye, sternocleidomastoid and biceps muscles, and the thenar muscles. Autonomic reactions were measured with psychogalvanic responses and beat to beat changes of blood pressure and heart rate.
The electromyographic bursts of the 4 muscles occurred in similar order in both patients and controls. The onset of the latency periods in the patient group was significantly (P < .001) prolonged in patients who took medication. Without medication, patients had shorter latency periods of the sternocleidomastoid muscle (P = .003) than controls. The electromyographic burst occurred significantly more often in patients than in controls (P < .001). The areas of the bursts were significantly larger in patients than in controls (P < .001); the degree of habituation was significantly stronger in patients than in controls (P < .001). The amplitude of the psychogalvanic response was increased in hyperekplexia, and the degree of habituation was significantly weaker in patients than in controls. Blood pressure and heart rate did not clearly react in either group.
Motor startle responses are stronger and show more habituation in patients with hereditary hyperekplexia than in controls. The excessive responses include the psychogalvanic response. Increased responses do not necessarily indicate decreased habituation in hyperekplexia.
遗传性惊吓症患者存在过度惊吓反应，伴有短暂性僵硬，且在婴儿期还伴有持续性僵硬。已在编码甘氨酸受体α1亚基的基因中确定了遗传性惊吓症主要形式的一个突变位点。
测量荷兰原发病例家系中遗传性惊吓症主要形式患者的惊吓反射和自主反应。
通过每隔10秒（90分贝和113分贝）和60秒（113分贝）给予3组每组20次听觉刺激来检查惊吓反射和自主反应。
荷兰莱顿大学医院神经内科和临床神经生理学系。
9例遗传性惊吓症主要形式患者和20名健康对照者。9例患者中，5例正在服药。这些患者是荷兰遗传性惊吓症家系的一部分。
通过眼轮匝肌、胸锁乳突肌、二头肌和大鱼际肌肌电图爆发的潜伏期和面积对惊吓反应进行量化。通过皮肤电反应以及血压和心率的逐搏变化来测量自主反应。
患者和对照者4块肌肉的肌电图爆发顺序相似。服药患者组的潜伏期起始明显延长（P <.001）。未服药时，患者胸锁乳突肌的潜伏期比对照者短（P =.003）。患者的肌电图爆发比对照者更频繁（P <.001）。爆发面积患者比对照者显著更大（P <.001）；患者的习惯化程度比对照者显著更强（P <.001）。遗传性惊吓症患者的皮肤电反应幅度增加，且患者的习惯化程度比对照者显著更弱。两组中血压和心率均无明显反应。
遗传性惊吓症患者的运动惊吓反应比对照者更强且习惯化程度更高。过度反应包括皮肤电反应。遗传性惊吓症中反应增强不一定表明习惯化降低。
